========================================================================= Date: Mon, 6 Jan 1997 00:07:46 EST Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: "Amy H. Irvin" <76121.202@COMPUSERVE.COM> Subject: Let me introduce myself!

Hi! My name is Amy Irvin. My husband (Dudley) of 9 years and I have 2 children, Alex and Eric. I was 30 years old, andhad been working as a Registered Nurse on an infectious disease unit when Alex was born(1/23/90) with Apert . My husband was 28. We had no indication during my pregnancy that there was anything wrong, so when Alex was born it was a shock of sorts. Fortunately we knew within an hour or so what the diagnosis was because our city has a top-notch children's hospital with a Regional Genetics Center and a geneticist with a particular ongoing interest in craniofacial anomalies. The greatest gift I received the day Alex was born was the name and phone number of an adult with Apert who was at the time 23 years old and in school becoming an Occupational Therapist. She was the light at the end of the tunnel for me and continues to be, because she represents what is possible for our children. We are good friends now and 3 years ago founded a local chapter of AboutFace. Alex's skull was completely fused at birth (all sutures) so his craniectomy was performed at 6 days of age. I did't have the chance to bring him home first. As I look back at that time it is amazing that we lived through it. The day after Alex's surgery, my father began bleeding rectally and had to be rushed to his home hospital to have polyps removed. Luckily, my parents were able to come back up from 2 hours away to be with us after that, because I was readmitted to the hospital (a different one from where ALex was) 3 days after the surgery with a 103 degree temp and abdominal pain. They thought I had a clot of some sort and put me on IV heparin and told me that I would have to stay in the hospital for 10 days. All I could do was cry and continue pumping breatmilk for my husband to run over to Alex. Unfortunately I didn't make enough due to all the stress and they supplemented him so much with bottles that he figures out which way he got more to eat! Anyway, they let me out of the hospital after 2 days and gave up the clot diagnosis for lack of clinical evidence. Alex came home from the hospital 2 weeks later to a WELCOME HOME ALEX banner my parents had made hanging on the garage. They are wonderful. Alex was an only child for a mere 15 months. Just as we were getting settled into our lives as new parents, a surprise conception happened. At first I cried, out of exhaustion at the thought of caring for 2 babies at the same time ( I didn't think about the fact thatt Alex would be almost 15 months old when the baby came!) and I was afraid that Apert might happen again despite the geneticist's explanation of a spontaneous mutation. After a few days I decided that I could handle another baby with Apert because I knew about it- it was everything else that can go wrong that scared me. But soon I settled into the idea of being a Mom again and enjoyed it. When Eric was born 5/8/91 Alex was not yet walking so I had my hands very full. Alex loved the big brother role from the start and the two of tham continue to be the best thing that happened to each other. Alex started walking at 18 months. He had his two hand surgeries at 1 1/2 years(both little fingers) and 2 1/2 years( index fingers). He still has the middle two fingers fused and it is unclear when or if we will have those separated. Alex uses his hands very well but has thet typical Apert fine motor difficulties. Alex also had eye muscle problems in his left eye and has had 2 surgeries in an attempt to correct the alignment. This eye is also "lazy" (Amblyopia) and has not responded to the standard patching treatment or anything else. He has very little useable vision in that eye (20/600). His other eye is more normal, little farsighted, and he wears glasses to help him focus better during up close activities.During the last eye surgery they found that Alex is missing the superior rectus eye muscles bilaterally( the ones that allow for looking up). Another surgery he has had at age 4 was on his foot. He began to complain of foot pain several years ago and I found a bump on the bottom of his left foot. When he stepped down, the bump hit hte ground first, putting pressure on his foot. The orthopedic surgeon found nothing on the x-rays but went in to explore and found a sixth toe bone wedged between hte others. they started cutting at his toes on the top of his foot and continued cutting on up almost to his ankle before it was all removed. Unfortunately this didn't fix the bump problem completely and now it bothers him again sometimes. Now we just keep him in comfortable athletic shoes and it seems to help. He has no trouble running fast and keeps up with his brother just fine. He even played on a soccer team last Fall. We were so proud of him, and the other kids didn't treat him any different than anyone else. That's not always that case. I'll elaborate on that another time. Alex went to two years of early intervention in a count program starting at age 2 1/2, then 2 years of preschool and than 1 year of pre-Kindergarten. He and his brother are now both in Kindergarten and love it. They are in adjacent classrooms and think it is very cool to go to school together. Alex is in a regular classroom with supports from the special ed department. He receives speech therapy twice a week at school and Occupational therapy once a week at school. Outside of school, he had been receiving speech therapy 1-2 times /week privately and just started OT once per week privately. When tested, he comes out about a year behind his age group, but I don't see it. He is having some trouble with writing and reading, but as of yet , he doesn't stand out from his peers as being behind that far. Time will tell, I guess. Gosh am I being wordy! Our latest challenge is orthodontics. Alex just received a palate expander a month ago and it rather difficult at the moment because he is supposed to wear a chin cup contraption that connects to the expander for 14 hours a day. We haven't made it for that long yet. I would appreciate any advice on this experience. His gums are sore around the metal bands and he is showing signs of sleep deprivation when we manage to have the chin cup on for several nights in a row. This may sound strange, but this seems to be the hardest (long term) thing we have had to endure so far. I hear that this will last a long time and that it still might not work. Oh, by the way, Alex had never had a mid-face advancement. He hasn't had the breathing problems of some kids, and his craniofacial surgeon is against doing it early otherwise because of the need to do it again later. He feels that considering Alex's outgoing personality ot is unnecessary to do it at this time just for self-esteem reasons. Our orthodontist believes that the orthodontics might save us from ever having to have it unless Alex chooses it later. I don't know the right answer any more than any one else and who know when Alex is grown whether we'll wish we had or hadn't done something or other. For the person who asked about having a child after having a child with Apert I will say this: I have no doubt that if we had not had our second child that we would be so wrapped up in Alex and his special needs that we wouldn't be focused on the bigger picture of letting him just be a kid leading a relatively normal life. His brother's existence gives Alex a normalcy that he wouldn't have other wise. It also gives him a peer to interact with when other kids aren't around, and someone to plot with against us, the parents.We were at McDonalds the other day and I overheard another child ask Eric "What's wrong with him-is he sick?" while pointing at Alex from a distance. Eric matter-of-factly replied,"No he's not sick. That's my bother. It's OK. He was just born that way. Let's go play!" I was so proud of him . Alex and Eric are brothers to the end. They fight and they play. They play pranks and they ride bikes. I can't give Alex or Eric the things they give each other. I am thankful that the forces of nature took over and created Eric, because if I had had to make the choice back then I'm sure that I would have agonized over the thought of another child. So much for my introduction! Unfortunately, when I get started on something I have to do it all at once. I hope that everyone is having a good start to the New Year. I have enjoyed all the messages people have been sending, and am grateful to Cathy and Don for creating Teeter's Page and this means of communication for all of us! Until next time......... Amy Irvin

========================================================================= Date: Tue, 7 Jan 1997 05:08:42 -0600 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Chad & Denise Graham <cgraham@INFOAVE.NET> Mime-Version: 1.0 Content-Type: text/plain; charset="us-ascii"

It's me again. I just wanted to clear up some things I wrote earlier. I do not think of any of you as older people. I am just anxious to meet someone who is around 23 or 24 that has an aperts, crouzons, or phieffers as a first born. I have meet one mother who is 25 and has a phieffers child. We have become good friends, but they live 12 hours away and the phone bill can get enormous. I will have another child. I do have some fears as all have, but don't think that is what will stop me. I just wanted to talk to someone who had and aperts child as their first child. I know about the genetic testing and other procedures that are out there. Knowing what to expect is not my main concern about having another child. Just your basic fears, but I thought it would be nice to see how many out there had aperts as their first born. I guess that is crazy. It probably seems that it doesn't make any difference, but it does to me. You see, I have a wonderful step-daughter who lives with me and my husband. I consider her my own. My feelings are like this: I know chad has a healthy child from a previous marriage, but for me, all I have had is a misscariage and then Daryl. I love both my kids with all my heart and wouldn't trade them for nothing, but I can't say to my self: "You have had one healthy child, so you can again." I don't have that to rationalize with myself. This probably doesn't make any sense but in my mind that is what I was thinking when I wrote last time. In the end it really doesn't matter. I love my kids and I will have another someday in the future, but I just thought it wouldn't hurt to see how many have had the same or simular experience. Thanks for the ones who have responded. I Take to heart everything you tell me. I try to put myself in your shoes, because every experience is unique and has a lesson to be taught. Amy Irvin, thanks for writing me. Also, thanks for the picture. I have some to send to you soon! Your experience helped me to read about it. You are the first person I have talked to who has had an aperts baby as a first born. I hope to call you or you call me sometime when we get time!Ha,Ha! Well, I'll go for know. If I have offended any of you I am very sorry. That was not my intentions. I hold all of you very precious to me and I would never want to hurt anyones feelings. I am just not good at writing what I am thinking. So if I have, please forgive me!

Denise Graham ========================================================================= Date: Tue, 7 Jan 1997 07:32:54 -0800 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Jim Younkin <jim@PHILLYDINE.COM> Subject: Sara's Surgery Yesterday MIME-Version: 1.0 Content-Type: text/plain; charset=us-ascii Content-Transfer-Encoding: 7bit

Well it finally came, the day Kelly and I unwillingly anticipated; Sara's orbital advancement surgery. She came through fine (better then us I suppose) but she looks very "beat up". Thank you all for your prayers and thoughts.

We had the unexpected suprise of being in the waiting lounge with anoth couple who's Aperts child was undergoing the exact same surgery. Mark & Paula's child Michael just turned two last week. We were able to pass some time together discussing "war stories", it was really very helpful. Paula showed us pictures of some other Aperts kids too, maybe some of yours!

I also wanted to tell George (if you're listening) that I asked our craniofacial team your question about rotating the forehead bone 180 degrees, and their reply was somewhat chilling to me. They said that when they are reconstructing the bones they sometimees find that a rotation of 180 degrees is sometimes a better fit. Then yesterday following the surgery Dr. Bartlett described the cutting he did to fit the bones just right, plus the affect the skin has when it is stretched back over the skull and sewed up. He said to expect the once high head to be lower and more forward now (I didn't realize it would be lower too). He said they try to bring the orbital area (and forehead) as far forward as possible to allow for future growth of the rest of her head. It sounds to me like a real piece of artwork, they take the skull apart then piece it back together by cutting other pieces to help form it smoothely and with the right shape. She still doesn't have a bridge on he nose, which looks wierd because with her "new" forehead, plus the swelling, the upper area is very exaggerated. We were told to expect more swelling, plus "black and blue" skin today.

It's so hard to put your baby (Sara is 9 months) through such things. Kelly said she didn't want to do this anymore and I don't blame her, but it's not over yet. Not even close, so please pray for us. And pray for Mark and Paula, they've had a rough time of it as well.

Thank you all so much, may God bless all you special parents and children; he chose us to care for them.

Jim Younkin =========================================================================

Date: Tue, 7 Jan 1997 07:02:50 -0600 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Bob Horning <Bob.Horning@CORP.HONEYWELL.COM> Subject: Siblings and bumps on the feet

This is in response to two other posts.

First, to the Grahams:

Krista was our first child too. I was 27, Mary was 28 at the time. When Mary was 4-5 weeks pregnant, I caught a 1-day fever (the only time I've ever called in sick) and she caught it a day later. I've always had a suspicion that the Apert's might have something to do with that bug, but will never really know. It was 4 years before we had the nerve to have another child. I know Mary agonized over it more than I did.

When Elisa was born she didn't have Aperts. But she did have extra wide sutures (just the opposite of Aperts), although they grew together normally. She also had a tumor on the inside of her scalp that required surgical removal at age 1 1/2 (by the same doctor who did Krista's craniofacial). Fortunately, that was a one time thing. It's kind of interesting, but that sometimes draws the two girls together. They both have had surgery, and they both have a scar on their head.

We now have three kids, but only Krista has Aperts. It doesn't seem like the probability of having another baby with Aperts is any higher in the other kids. That doesn't mean there can't be other problems, but that's true every time you have a baby.

You CAN have other children, and they WILL bring you plenty of joy (and pain).

Next to Amy Irving.

Krista has a bump on the bottom of one of her feet too. There isn't much besides a bump on the x-rays. No sixth toe or anything like that. So far, our orthoped. hasn't thought it bad enough to need surgery. Krista has to have inserts in her shoes to help with ankle and foot alignment, so they just put a hole in the insert to accomodate the bump for now. Is there any other advice your doctor(s) gave you about Alex's bump?

Bob Horning Savage, Minnesota horning_bob@htc.honeywell.com ========================================================================= Date: Tue, 7 Jan 1997 11:31:11 -0500 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: George Starr <daystar@IGLOU.COM> Subject: Re: Sara's Surgery Yesterday MIME-Version: 1.0 Content-Type: text/plain; charset=ISO-8859-1 Content-Transfer-Encoding: 7bit

Jim, Thanks for sharing with us, I wish you the best luck in the world with everything. It all sounds so scary, and the midface sounds even scarier than this part of it. I don't know if Rosemarie will have it or not, she goes this friday to talk to the craniofacial team. I'll be sure to let everyone know the outcome. It's scary to me and I know Rosemarie is scared to death of it, but the benifits could out weight the risks (that is to be found out). She has bad dreams about the sugury almost every night, I can only imagine what all the parents on here goes through.

Thanks George

> I also wanted to tell George (if you're listening) that I asked our craniofacial > team your question about rotating the forehead bone 180 degrees, and their reply > was somewhat chilling to me. They said that when they are reconstructing the > bones they sometimees find that a rotation of 180 degrees is sometimes a better > fit. Then yesterday following the surgery Dr. Bartlett described the cutting he > did to fit the bones just right, plus the affect the skin has when it is > stretched back over the skull and sewed up. He said to expect the once high head > to be lower and more forward now (I didn't realize it would be lower too). He > said they try to bring the orbital area (and forehead) as far forward as > possible to allow for future growth of the rest of her head. It sounds to me > like a real piece of artwork, they take the skull apart then piece it back > together by cutting other pieces to help form it smoothely and with the right > shape. She still doesn't have a bridge on he nose, which looks wierd because > with her "new" forehead, plus the swelling, the upper area is very exaggerated. > We were told to expect more swelling, plus "black and blue" skin today. > > It's so hard to put your baby (Sara is 9 months) through such things. Kelly said > she didn't want to do this anymore and I don't blame her, but it's not over yet. > Not even close, so please pray for us. And pray for Mark and Paula, they've had > a rough time of it as well. > > Thank you all so much, may God bless all you special parents and children; he > chose us to care for them. > > Jim Younkin ========================================================================= Date: Tue, 7 Jan 1997 09:50:15 EST Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: "Amy H. Irvin" <76121.202@COMPUSERVE.COM> Subject: Foot bump

Dear Bob Horning, The only advice we were given after we went through that first surgery and then Alex experienced discomfort from the bump again was to do just as you said-put a hole in an orthotic pad to take the pressure of the bump. So far that has prevented any more trips to the orthopedic surgeon. He also said that whatever is causing the "bump" probably didn't show up on the x-ray because it hasn't calcified yet. Another thought to keep in mind, he said, is that every time you do surgery scar tissue is formed that can, in some cases, end up causing more problems/pain than the original problem. Oh well. We'll just have to figure it out as time passes and we see if it causes any more problems. Take care. Amy Irvin ========================================================================= Date: Tue, 7 Jan 1997 17:32:04 GMT Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Qing Gong <qing@ASRC.ALBANY.EDU> Subject: Re: Let me introduce myself! Mime-Version: 1.0 Content-Type: text/plain; charset=us-ascii Content-Transfer-Encoding: 7bit

A thanks to Simon. I enjoyed your post. Your kids have hard-to-pronounce names, but I think they are beautiful names.

Thanks, Amy Irvin, for sharing your story. I just wanted to tell you that I also got to talk to Kathy, the OT with Aperts, right after Vivi was born. It's the best thing happened to me during that time...She was such an inspiration. Later I saw her picture in one of Christine Clark's news letters... she is a beautiful person inside and out. I was hoping she could get on the listserv and share her stories with all of us.

Now I have a question for you parents with older kids w/ Aperts: Speech seems to be an area that most of these kids have difficulties in when they are ready to enter school. But when I spoke with adults w/ Aperts (I spoke w/ two so far on the phone), their speech was perfect. I was wondering when the changes happen and what role the speech therapy plays in all this. Vivi is 16 months and only making some sounds like mama and baba. She's had speech therapy since she was 5 months old, but it's been the area that she's made the least progress, compared to PT/OT. They say that her speech is equivalent to 7/8 months old. It appears to be the only area that she is far behind (except her teeth and weight).

Qing ========================================================================= Date: Tue, 7 Jan 1997 18:26:24 -0700 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Patricia Bacon <baconptf@TELUSPLANET.NET> Subject: Re: Sara's Surgery Yesterday Mime-Version: 1.0 Content-Type: text/plain; charset="us-ascii"

Dear Jim Thanks for your update on Sara's surgery. My daughter will be having some orbital reconstruction this summer coming up. I too am anticipating the day with more dread than excitement. Would you mind telling me how long was the surgery? Was it done by a team of surgeons, or just one surgeon? Did she require any transfusions? (Our PS says there's an 80% chance that my daughter (EvaJessie) will need additional blood.) How long until the bruising and swelling disappears and you will see the results, or can you already notice a difference? Thanks.

You and your wife must be exhausted from the emotional drain. Although my little girl (she'll be 4 in May) has had five surgeries, none of them comes close to the one she will endure next summer.

Sending gentle hugs to your little Sara. Speedy recovery, sweet girl.

Pat and the Peach (Calgary) >Well it finally came, the day Kelly and I unwillingly anticipated; Sara's >orbital advancement surgery. She came through fine (better then us I suppose) >but she looks very "beat up". Thank you all for your prayers and thoughts. > >We had the unexpected suprise of being in the waiting lounge with anoth couple >who's Aperts child was undergoing the exact same surgery. Mark & Paula's child >Michael just turned two last week. We were able to pass some time together >discussing "war stories", it was really very helpful. Paula showed us pictures >of some other Aperts kids too, maybe some of yours! > >I also wanted to tell George (if you're listening) that I asked our craniofacial >team your question about rotating the forehead bone 180 degrees, and their reply >was somewhat chilling to me. They said that when they are reconstructing the >bones they sometimees find that a rotation of 180 degrees is sometimes a better >fit. Then yesterday following the surgery Dr. Bartlett described the cutting he >did to fit the bones just right, plus the affect the skin has when it is >stretched back over the skull and sewed up. He said to expect the once high head >to be lower and more forward now (I didn't realize it would be lower too). He >said they try to bring the orbital area (and forehead) as far forward as >possible to allow for future growth of the rest of her head. It sounds to me >like a real piece of artwork, they take the skull apart then piece it back >together by cutting other pieces to help form it smoothely and with the right >shape. She still doesn't have a bridge on he nose, which looks wierd because >with her "new" forehead, plus the swelling, the upper area is very exaggerated. >We were told to expect more swelling, plus "black and blue" skin today. > >It's so hard to put your baby (Sara is 9 months) through such things. Kelly said >she didn't want to do this anymore and I don't blame her, but it's not over yet. >Not even close, so please pray for us. And pray for Mark and Paula, they've had >a rough time of it as well. > >Thank you all so much, may God bless all you special parents and children; he >chose us to care for them. > >Jim Younkin > > ========================================================================= Date: Tue, 7 Jan 1997 23:11:19 EST Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: "Amy H. Irvin" <76121.202@COMPUSERVE.COM> Subject: Re: Let me introduce myself!

To Qing, Kathy is just now getting hooked into the internet but she has been having some problems getting connected. She just subscribed to Compuserve a week ago so hopefully I will be able to convince her to get on here soon. Alex will be 7 in a few weeks. He did not say more that 3 or 4 words until he was 2 1/2 years old. He started speech therapy at that time and now speaks fairly well. His vocabularly is good, but his tonality is still very nasal . His articulation has improved greatly in the last 2 years. It is a rare occurrence now to have someone who cannot understand him. Sometimes he has to repeat something a few times, but usually is understood. We have had few complaints from peers or teachers. This is not to say that he doesn't have a long way to go. When tested by the school system, they say he has a mild to moderate speech delay, but his school speech therapist feels that in a year or two he will not need speech at school any more. I don't know if this had helped much. All I know is that in the past two years there has been tremendous growth in this and other areas. Alex loves to talk and sing, and his confidence in speaking is good. That's as much as I can ask for at the moment! Amy Irvin ========================================================================= Date: Wed, 8 Jan 1997 06:01:59 EST Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Steve Moody <100130.1636@COMPUSERVE.COM> Subject: The Craniofacial Support Group Resources List DI a!? ayyyyyRyyyyyyyyyyNDack aimed at teachers at the key Stages 1 and 2 level, exploring appearance and the effects of disfigurement, by Changing Faces (charity No. 1011222). 2 copies available.

A2: 'Reach Out', a self help video package for people who have a facial disfigurement, by Changing Faces.

A3: 'More than meets the eye', a BBC TV Open University documentary which examines the social and psychological consequences of facial disfigurement.

A4: 'Face Value', a Channel 4 TV documentary from the People First series which explores facial disfigurement through the eyes of the individuals affected.

A5: Edition of 'Great Ormond Street Hospital' , BBC1 TV documentary (broadcast 14th May 1996) featuring a mid face advancement operation on a teenager with Crouzon's Syndrome.

A6: 'Your Shout', a short TV programe made by CFSG member Atarra Preston for LWT in 1996 about Crouzon's Syndrome and facial appearance.

Abbreviations used in the following list: AJOMG = American Journal of Medical Genetics. JOCMFS = Journal of Cranial-Maxillo-Facial Surgery. PRS = Plastic and Reconstructive Surgery. JCGDB = Journal of Craniofacial Genetics and Developmental Biology. HMG = Human Molecular Genetics. NCNA = Neurosurgery Clinics of North America. BJHM = British Journal of Hospital Medicine. JOMG = Journal of Medical Genetics

B. Medical and Surgical Articles:

B1: 'Hands and feet in the Apert Syndrome', Cohen et al, AJOMG 57:82-96 (1995).

B2: 'Craniosynostoses: Phenotypic/Molecular Correlations', Cohen, AJOMG 56:334-339 (1995).

B3: 'Craniosynostosis Update 1987', Cohen, AJOMG Supplement 4:99-148 (1988).

B4: 'Pfeiffer Syndrome Update, Clinical subtypes, and guidelines for differential diagnosis', Cohen, AJOMG 45:300-307 (1993).

B5: 'Visceral Anomalies in the Apert Syndrome', Cohen et al, AJOMG 45:758-760 (1993).

B6: 'Growth Pattern in the Apert Syndrome', Cohen et al, AJOMG 47:617-623 (1993).

B7: 'Skeletal abnormalities in the Apert Syndrome', Cohen et al, AJOMG 47:624-632 (1993).

B8: 'Comparative three dimensional analysis of CT scans of the calvaria and cranial base in Apert and Crouzon syndromes', Kreiborg et al, JOCMFS 21:181-188 (1993).

B9: 'The Clover Leaf anomaly: managing extreme Cranio-Orbitofaciostenosis', Lodge et al, PRS vol. 91: 10-14 1993).

B10: 'Sutural Biology and the correlates of Craniosynostosis', Cohen, AJOMG 47:581-616 (1993).

B11: 'Cutaneous manifestations of Apert Syndrome', Cohen et al, AJOMG 58:94-96 (1995).

B12: 'Cranial size and configuration in the Apert Syndrome', Cohen et al, JCGDB 14:153-162 (1994).

B13: 'Unusual cranial aspects of the Apert Syndrome', Cohen et al, JCGDB 14: 48-56 (1994).

B14: 'Mutations in FGFG1 and FGFR2 cause familial and sporadic Pfeiffer Syndrome', Schell et al, HMG vol. 4 no. 3 323-328 (1995).

B15: 'Genetic Heterogeneity among Craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome locii from 7p', Lewanda et al, Genomics 19:115-119 (1994).

B16: 'Beare-Stevenson Cutis Gyrata Syndrome', Hall et al, AJOMG 44:82-89 (1992).

B17: 'Upper and lower airway compromise in the Apert Syndrome', Cohen et al, AJOMG 44:90-93 (1992).

B18: 'The oral manifestations of Apert Syndrome', Kreiborg et al, Munksgaard 41-48 (1992).

B19: 'Cervical Spine in the Apert Syndrome', Kreiborg et al, AJOMG 43:704-708 (1992).

B20: 'Characteristics of the infant Apert skull and its subsequent development', Kreiborg et al, JCGDB 10:399-410 (1990).

B21: 'The Central Nervous System in the Apert Syndrome', Cohen et al, AJOMG 35:36-45 (1990).

B22: 'Frontal Plagiocephaly: Synostotic, Compensational, or Deformational?', Bruneteau et al, PRS (1992).

B23: 'Birth prevalence studies of the Crouzon Syndrome: comparison of direct and indirect methods', Cohen et al, Clinical Genetics 41:12-15 (1992).

B24: 'Birth prevalence study of the Apert Syndrome', Cohen et al, AJOMG 42:655-659 (1992).

B25: 'Etiopathogenisis of Craniosynostosis', Cohen, NCNA vol. 2 no. 3 July 1991.

B26: 'Germinal mosaicism in Crouzon Syndrome', Kreiborg et al, Human Genetics 84:487-488 (1990).

B27: 'Craniofacial Surgery', Hockley et al, BJHM June 1986:368-373.

B28: 'Saethre-Chotzen Syndrome', Reardon et al, Medical Genetics 31:393-396 (1994).

B29: 'Fingering fibroblast growth factor receptors' and 'Mutations in the FGFR2 gene causes Crouzon Syndrome', Reardon et al, Nature Genetics vol. 8, Sept. 1994.

B30: 'Intellectual development in Apert's Syndrome: a long term follow up of 29 patients', Patton et al, Medical Genetics 25:164-167 (1988).

B31: 'Assessment and treatment of Craniosynostosis', Thompson et al, BJHM 1994:52:1.

B32: 'Saethre-Chotzen Syndrome: Brachycephaly with Maxillary Hypoplasia, Prominent Ear Crus, Syndactyly', journal unknown, author unknown.

B33: 'Saethre-Chotzen Syndrome', Reardon and Winter, JOMG 1994:31:393-396.

B34: 'Evidence that the Saethre-Chotzen Syndrome Locus lies between D7S664 and D7S507, by genetic analysis and detection of a Microdelation in a Patient', Lewanda, Green, Weissenbach et al, AJOMG 55:1195-1201, 1994.

B35: 'Evidence for Locus Heterogeneity in Acrocephalosyndactyly: A refined localization for the Saethre-Chotzen Syndrome Locus on Distal Chromosome 7p - and exclusion of Jackson-Weiss Syndrome from Craniosynostosis Loci on 7p and 5q', van Herwerden, Rose, Reardon et al, AJOMG 54: 669-674, 1994.

B36: 'Disturbances of Ossification: Craniosynostosis', a single sheet from a reference book entitled Disorders of the Skeletal System, author unknown.

C. Other Articles (some of which are photocopies of photocopies and so may be of poor quality):

C1: 'Check list and Guidelines for Parents', a summary of a talk given by Leonie Holgate at the Hydrocephalus Study Day, ASBAH, Sept. 1990.

C2: 'Learning Issues', notes about learning problems for children with Hydrocephalus from ASBAH.

C3: 'Crouzon's Syndrome and related conditions', a compilation of (older) medical and surgical articles, and reprints of 'A parents perspective', Anne Drew, on craniosynostosis, and 'Cranio-facial Surgery', Naomi MacKenzie, on nursing care of children following cranio-facial surgery, from Paedriatric Nursing, July 1990.

C4: 'Apert's Syndrome', a parents guide by CFSG Vicechair Pam Walker.

C5: 'I risked our baby's life for the sake of her looks', a copy of an article CFSG member Halina Kierkuc wrote in February 1996 for The Times about her experiences with cranial surgery for her baby daughter. (Halina did not write the headline, and feels that it misrepresents the thrust of her article, which is very positive in tone). Also published in Headlines no. 8.

C6: 'Unkind Cut, some surgeons do unnecessary surgery on heads of infants', Bob Ortega, staff reporter on The Wall Street Journal, Feb. 1996.

C7: 'A report to the North Yorkshire Health Authority concerning the incidence and management of Lamboid Synostosis', Prof. D David, December 1995. This is the report Prof. David wrote after his investigations into the apparent 'cluster' of craniosynostosis in the North Yorks. and Selby areas. (Please note that the report we have is incomplete, having been censored before we received it).

C8: 'New windpipes can save child lives', Chris Mihill, medical correspondent of The Guardian, April 1996.

D. CFSG Publications:

D1: 'The Craniofacial Support Group Handbook, Volume 1', a compilation of all the articles in 'Headlines', the CFSG newsletter, nos. 1 to 6. (We plan to continue the series with compilations of subsequent sets of newsletters).

D2: CFSG Information Leaflets (none yet published, planned to be available 1997):

D2a: 'Apert's Syndrome' D2b: 'The Genetic background to Craniosynostosis' D2c: 'Craniosynostosis' D2d: 'Craniofacial Surgery' D2e: 'Hand Surgery' D2f: 'Crouzon's Syndrome' D2g: 'Pfeiffer's/Cloverleaf Syndrome' D2h: 'Saethre-Chotzen Syndrome' D2i: 'Parental aspects of children with craniosynostosis' D2j: 'Your child in hospital'

E. Commercial publications (photocopy):

E1: 'Obstructive sleep apnea today', ResCare (UK) Ltd., a leaflet describing sleep apnea and advertising their Continuous Positive Airway Pressure (CPAP) equipment.

F. Reading List:

F1: 'The Changing Faces reading list', containing in part 1 books that Changing Faces have read and recommend, and in part 2 books recommended by other people, but not yet read by Changing Faces.

G. Books (loan only):

G1: 'Children in hospital, a guide for Family and Carers', Richard Lansdown, Oxford University Press 1996. (ISBN 0-19-262357-5).

G2: 'A Special Child in the Family, living with your sick or disabled child', Diana Kimpton, Sheldon Press 1990. (ISBN 0-85969-607-3).

G3: 'Changing Faces, the challenge of facial disfigurement', James Partridge, Director of Changing Faces, published by Changing Faces in conjunction with the British Burns Association. (ISBN 0-14-011597-8).

G4: 'Counselling People with Disfigurement', Eileen Bradbury, BPS Books 1996. (ISBN 1-85433-176-0).

G5: 'Glossary of Syndromes associated with Learning Difficulty', Ann Worthington, In Touch Trust, (ISBN 0-9510245-1-5).

G6: 'Useful addresses for Special Needs', Ann Worthington, In Touch Trust, no known ISBN, available direct from In Touch, address below.

Please note: We have no specific permission under copyright laws to reprint or copy much of the above material, and supply it to individuals on the basis that it is for personal use and in the expectation that the author(s) will not object as the purpose is to help individuals or their families. If you are a professional, or plan to use any of the material for other than private purposes, please obtain the author's permission before copying.

This list is being updated regularly. If you wish to receive subsequent copies, please either contact me again in 6 to 12 months, or send me an SAE with Publications List and the date 6 months hence marked in the top left hand corner. I will then use the envelope to send you the list current on that date. Send (for later copies only) to: Steve Moody, 44 Helmsdale Rd., Leamington Spa, CV32 7DW.

Useful addresses:

Association for Spina Bifida and Hydrocephalus (ASBAH) ASBAH House 42 Park Rd. Peterborough PE1 2UQ Tel: 01733 555988

Changing Faces 1-2 Junction Mews Paddington London W2 1PN Tel: 0171 706 4232 An organisation specialising in help for those with a facial disfigurment.

Cleft Lip and Palate Association (CLAPA) 1 Eastwood Gardens Kenton Newcastle-upon-Tyne Tyne and Wear NE3 3DQ Tel: 0191 285 9396

Contact a Family 170 Tottenham Court Rd. London W1P 0HA Tel: 0171 383 3555 A Charity specialising in putting families and individuals in touch with others in a similar position, and in the setting up and running of support Groups. In Touch Ann Worthington MBE 10 Norman Rd. Sale Cheshire M33 3DF Tel: 0161 905 2440 A Charity established in the late 1960's specialising in contact between people with a rare condition or syndrome.

Let's Face It Christine Piff 10 Wood End Crowthorne Berks. RG11 6DQ Tel: 01344 774405 An organisation for the facially disfigured.

Professor M M Cohen Jr. Dalhousie University Halifax Nova Scotia Canada B3H 3J5 Professor of Oral & Maxillofacial Pathology, Paediatrics, Community Health & Epidemiology, and Health Services Administration (!)

SJM 070197 v2.3

CFSG Publications order form:

Send to: Jackie Budd, 'Trem Hafren', Earlswood, Chepstow, Gwent, NP6 6AN. Please enclose a large SAE with 31p stamp for copies of 1 to 4 articles, 38p for 5 to 10 copies, or 45p for 11 or more. Book or video orders will require 64p in stamps (these are for second class postage).

Please enclose a contribution towards photocopying costs, amount at your discretion.

Article/Book/Video ref. Title (eg.) B31 Assessment and treatment of craniosynostosis ............. ...................................................................... ............. ...................................................................... ............. ...................................................................... ............. ...................................................................... ............. ...................................................................... ............. ...................................................................... ............. ...................................................................... ............. ...................................................................... ............. ...................................................................... ............. ...................................................................... ............. ......................................................................

Please continue below if necessary.

Your name:......................................................... Address:............................................................. ............................................................. ............................................................. Postcode:.........................................

SJM 110796 v2.1

r s ========================================================================= Date: Wed, 8 Jan 1997 06:42:09 EST Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Steve Moody <100130.1636@COMPUSERVE.COM> Subject: 'Orbital Advancement' and 'more children'.

Deal All,

ORBITAL ADVANCEMENT

My son Michael, who is now 6 and has Crouzon's Syndrome, had the surgery (called a 'mid face advancement' here in the UK) together with a forehead advancement at age 3.

The procedure is lengthy, taking in his case just under 10 hours in the Theatre, though this included more time than was expected by having problems with the Tracheostomy done after the main facial surgery. It was done by a team of surgeons led by a Neuro surgeon and a Facio-Maxillary surgeon, with help and further work done by an Ear, Nose and Throat surgeon.

The procedure did require blood transfusion. I understand that due to the nature of the incision there is considerable blood loss during the operation, and we were told that he actually received the equivalent of 2 1/2 times his blood volume during the operation.............I've been trying to replace that blood by doner sessions ever since!

Michael had a very large bandage, similar to a Turban but coming down over his ears then up over the bridge of his nose when he came out of the Theatre. This was removed after a week, during which time he was kept unconcious in Intensive Care due to the Tracheostomy failing at 2.00am the morning after the operation. The bandage was explained as being necessary to reduce the bruising post op, and was very successful as when removed he had very little bruising or swelling, though they may have been present under the bandage before it was taken off. We have since met another boy with the same condition who had the same operation at Oxford, but without the bandage, who was apparanly very bruised post op, and gets marked 'blotching' of the skin around his eyes when he is upset, something Michael does not suffer from (the blotching that is, he is quite capable of getting upset, especially when his little sister pulls his hair!).

This was his second forehead advancement, and will all need to be repeated in his early teens. He has had 9 operations of various forms so far, and I can assure you that post op in none of them did he have any pain, as the drug therapy used by the Doctors and Nurses was excellent. We have seen the same result in many other cases we've come across in the Group.

MORE CHILDREN

We have a number of family Group members with children younger than a child with Apert's Syndrome and Crouzon's Syndrome. My wife and I have a daughter born 3 years after our son with Crouzon's (and both are 'IVF' or 'test tube' babies) and both our Group Treasurer and Newsletter Editor have children younger than their Apert's children. There are about 6 families in the Group with 2 children affected by the same or a similar condition, but none of them with Apert's (we currently have 480 odd families as members). This is not a statistically significant sample I'm afraid but bears out the predictions of the Geneticists.

All the best to you all for the new Year.

Steve Moody, CFSG Chairman. ========================================================================= Date: Wed, 8 Jan 1997 07:31:10 -0800 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Penny Halverson <phalvers@U.WASHINGTON.EDU> Subject: Hi! & RE: Crouzon Syndrome (fwd) MIME-Version: 1.0 Content-Type: TEXT/PLAIN; charset=US-ASCII

Hi all!

This discussion group is really great! Good works Don! It's a blessing!

My names is Penny Halverson and I'm from Edmonds, Washington. The reason why I am writing to you is because I have Crouzon Syndrome. I'm hoping to find people of all ages from many places that have Crouzon - Syndrome or craniofacial anomalies that would like to correspond.

I'll tell you more about myself. I am 36 years old and married to a wonderful man names Eric for almost 10 yrs. We do not have any children but we do have pets that filled in the gap. We two cats, one is a female domestic calico cat names Darling, and second is a male peachy somali cat names Nicky. We also have wonderful female mid size terrier/german shepherd/ welsh corgi mix dog names Angel and she's a real doll! Both my hubby and I love animal and they make wonderful children.

I work for the University of Washington as a Fiscal Technician and my husband Eric works as an engineer at the Crowne Plaza Hotel in Seattle, WA. We both work at our jobs for 15 years.

I was born in Longview, Washington, but raised most of my life in Seattle, Washington, My family and I had to move to Seattle was because not I was born with Crouzon Syndrome but I had other related complications that needed surgeries done at Children's Hospital and the University of Washington Hospital & Medical Center.

Parts of Crouzon Syndrome that I have had done by plastic surgeries called Bicoronal Synostosis in 1976 which was long before LeFort I-IV ever came out in the early '80's. I also have fused elbows (both elbows set naturally from birth at about 90 degree angle), fused thumbs & big toes, mild scoliosis, mild heart defect, and hearing impairment. According to the genetic doctor, I do have a small degree of Aperts due to fused joints but the greater effect is the Crouzon syndrome itself. There is also the possibility that I'm hoping that I will be having more plastic surgery such as possibly the Adult Midface & Orbital Advancement the near future. I am almost 40's and things with my facial appearance have changed so it will be necessary to have it done.

The fused elbows were never done because doctors were not able to correct it because the lack of upper arms muscles. So I use my shoulders and hands as a mobility. But it NEVER limit or interfere my enjoyments or physical activities such as, I'm able to drive a car, type on the computer, and sew or sometimes I'll crochet too.

I am hearing impaired so that is why I wear a hearing aid device behind the ear. While I do wear a hearing aid device on, I can hear at about 90% which is pretty good. I also do lip reading as well too when it comes to communicate directly with a person face to face.

If you would like to contact me, you may email to:

My internet email is: Hwy2Heaven@msn.com

My work email is: phalvers@u.washington.edu

Well take cares and keep in touch. Hope to hear from you, soon...

From Penny Halverson

**************************************************************************** ========================================================================= Date: Wed, 8 Jan 1997 15:51:51 GMT Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Qing Gong <qing@ASRC.ALBANY.EDU> Subject: Runny Nose Mime-Version: 1.0 Content-Type: text/plain; charset=us-ascii Content-Transfer-Encoding: 7bit

Thanks, Amy, for your response to my question concerning the speech.

Since most of our kids have trouble breathing, especially when they get a cold or sinus infection, I thought the following article might be of interest to you. I copied it from another news group.

Qing ________________________________________________________________________________ The Chronic Runny Nose

So your child has had a runny nose for more than a week....or maybe more than a month. When should a parent get concerned? When are antibiotics called for? When should tests be done, and what kind?

The easiest diagnosis comes when the mucus from the nose ("rhinorrhea") is clear. That represents allergy more than 90% of the time, and the rest of the time it represents something called "vasomotor rhinitis," which means a non-allergic irritant is irritating the nose, and regular medications aren't going to help much. Chronic allergic rhinitis ("rhinitis" = inflammation of the nose) can usually be controlled (notice I didn't say "treated") through oral and/or nasal medications; when it can't, then allergy testing can help identify the offending agents so avoidance measures can be started.

The fun starts when the mucus isn't clear. Almost all doctors agree that cloudy or white nasal mucus indicates a head cold, caused by those nasty viruses that linger in schools, daycare centers and Sesame Street concerts. (Please note that wind, cold weather and running outside with wet hair and bare feet do not by themselves make a child sick.) Head colds may last 5 to 7 days, and typically cause some mild chest congestion before disappearing completely.

What about the yellow or green stuff? Actually, most doctors call this "purulent drainage" but it doesn't necessarily mean anything more than infection. Viruses can cause the mucus to be green or yellow. After a certain amount of days, then doctors might call it "sinusitis" or "upper respiratory infection" and prescribe antibiotics. How long is that time frame? It depends on the doctor, and that depends on the last thing they've read or how sick the child is. Without fever or any other problems, most doctors tell parents to wait 3 to 7 days after the emergence of the yellow/green mucus before prescribing antibiotics. One thing to keep in mind, by the way, is that nasal mucus typically looks dark when dried or in the first 2 hours of the morning, so that doesn't count. And mucus that changes from clear to discolored and back is most likely a virus.

If the color isn't that helpful, how else can sinusitis be diagnosed? Again, colds last only about 5 to 7 days; anything more than that is usually a sinusitis. Also, colds rarely cause a body temperature of over 101 F, so fever is a good sign of sinusitis (though sinusitis doesn't always cause fever). Sinus infections also tend to cause more sinus pressure than colds: that feeling of pain over the cheeks or above the eyes, especially when the head is rapidly moved or the face is tapped. Some doctors will take a sample of the mucus and look at it under a microscope for the white blood cells that signify infection.

Sinus Xrays can be helpful in most children, though there are false-negatives (Xrays that look normal even when sinusitis exists). Some doctors have taken to doing limited Cat-scans of the sinuses instead, as they are much better as finding sinusitis as well as determining sinus anatomy than conventional sinus Xrays, and usually about the same price (the equivalent of a one-night's stay in a nice hotel room on Padre Island).

While most sinus infections can be treated with 10 days of antibiotics, some infections that are long-standing may require 20 to 30 days. Nasal decongestants may help the sinuses drain; but antihistamines may actually make the sinus infection worse, as they sometimes make the mucus thicker and harder to drain. Topical decongestants (the nose drops and sprays) make the child feel better but at a terrible price: overuse of these products actually make the lining of the nose addicted to them, so that the child can't breathe well without using them. So stay away form these as much as possible. A better treatment is salt water (saline) nose drops followed by suction....if your child is of a mind to let you, that is.

What is contagious and what isn't? This is simple: allergies are not contagious; sinus infections are slightly contagious; head colds are very contagious. However, since the majority of children with sinus infections started out having a head cold, we still consider the children contagious as long as there is fever or other signs of active infection. If you have a child with a runny nose for more than a couple of weeks, clear or slightly discolored, and without fever or signs of infection, then that's most likely allergic and not contagious.

This was a shortened version of a detailed topic, so I'm expecting questions.

(Reference: Shapiro GG, Peds Review, 7(7), 1986)

Len Leshin, MD, FAAP lleshin@davlin.net ========================================================================= Date: Wed, 8 Jan 1997 10:31:39 -0600 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Bob Horning <Bob.Horning@CORP.HONEYWELL.COM> Subject: Hi Penny - fused elbows

From: Horning Bob on Wed, Jan 8, 1997 10:22 AM Subject: Hi Penny - fused elbows To: Apert Listserver

Hi Penny. Thanks for writing.

I'm very interested in your thoughts on the fused elbows because Krista has that too. Is there anybody else out there with fused elbows? They are not quite at 90 degrees, but close to it. Her shoulders are fused too, with the upper arm extending more or less down along her body. Since this has been the case from birth, her shoulder blades (or the muscles/tendons that hold them in place) have developed a lot more flexibility than most of us have. This gives her the ability to lift her upper arm almost perpendicular to her body in front of her, but only at a 20-30 degree angle to the side. These positions are fairly natural places for arms to be so many things are pretty easily accomadated. You mentioned that you can type and drive with little trouble, and these activities are done with the arms in the "locked" position. Krista is only 9 so she doesn't drive yet, but she can type OK.

Where Krista has had trouble is the many things that require extension of the arms. To list a few:

- getting dressed. She can put on pants, socks and shoes, but can't do her own shirt. She can wiggle into a coat, since that is looser than a shirt.

- Washing her face, blowing nose, etc. Krista can eat alright because she can get food to her mouth with a spoon or fork - an extension. But she can barely touch her face with a washcloth or tissue, so isn't able to put enough pressure on it to do a good job.

- going to the bathroom. Actually wiping herself off when she's done is the part she can't do. (sorry if this is getting kind of personal, but that's life with Apert's I guess)

- etc.

Do you have any advice on those things, Penny? Are there any assistive devices that you have found especially useful? I'd very much like to know more, since this (fused elbows) is probably the biggest limitation that Krista has. Thanks in advance.

Bob Horning Savage, MN horning_bob@htc.honeywell.com ========================================================================= Date: Wed, 8 Jan 1997 12:27:32 -0800 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Jim Younkin <jim@PHILLYDINE.COM> Subject: Re: Sara's Surgery Yesterday MIME-Version: 1.0 Content-Type: text/plain; charset=us-ascii Content-Transfer-Encoding: 7bit

Hi Pat,

The timing has gone like this so far, approximately:

Monday- 8:30 we arrived to register 10:00 we took Sara to the holding area 10:30 they took Sara in to the O/R for prep 12:00 Craniofacial team began (1 surgeon + 2 or more others (residents?)) they opened her skull and removed the forehead plate. 3 Anesthesiaologists at the same time throught the surgery. 1:00 Neurosurgeon provided accessibility (moved her brain). 1:30 Neuro done, craniofacial construction began 4:30 closed her up 5:30 transported to pediatric ICU, ventilator was removed. 6:30 we were allowed to see her She was wearing a turbin to cover her dressing, lots of blood on her dressing (though she did not lose as much blood as I expected) She had 1.5 units in O/R and another unit (or part of one) in the evening cause she was pale. They also gave her plasma later. We used donor-directed blood; 5 units were donated (thanks to our church!). We went home at 8pm (she was sleeping).

This part was especially traumatic cause we weren't prepared for how swollen her face was (they said it would get worse Tuesday, plus bruising). Poor thing...

Tuesday - 6:30 am Arrived to see her (still in ICU) a bit more swollen, and now that she was awake, very mad too! She drank some Pedialite, and later had a few sips of breastmilk from a bottle.

12 noon Transferred to regular room 3pm I arrived to take over for my wife Sara slept fitfully, constantly interrupted by noise or needle sticks (blood tests). She had some more breatmilk but not much. 10pm My wife returned so I could go home. Kelly stayed all night. Since we're not in the ICU anymore Sara relies on Kelly and I to get things for her, bottles, diapers, pacifier, etc. Sara vomited a bit overnight and didn't sleep well, but the Docs said she may still have some anesthesia in her.

Wednesday -

7am - Craniofacial group removed her dressing and got her a cap to wear (they had shaved her head) Kelly says her head looks about the same as after her suture release surgery last July, except more swelling this time.

They expect her to go home Friday or Saturday, though her eyes will probably still be swollen shut until Saturday. I am goig to relieve Kelly at 3pm today, if any of you want to call this evening I'll probably be free to talk (215)590-1350. Please don't call before 5PM so I am there (I didn't tell Kelly that I gave out our number).

As far as the difference I see, it may be hard to tell until the swelling goes down, she does look VERY different.

How old is EvaJessie? I am sure she is a very special child. Where are you having the surgery done?

Jim Younkin

Patricia Bacon wrote: > > Dear Jim > Thanks for your update on Sara's surgery. My daughter will be having some > orbital reconstruction this summer coming up. I too am anticipating the day > with more dread than excitement. Would you mind telling me how long was the > surgery? Was it done by a team of surgeons, or just one surgeon? Did she > require any transfusions? (Our PS says there's an 80% chance that my > daughter (EvaJessie) will need additional blood.) How long until the > bruising and swelling disappears and you will see the results, or can you > already notice a difference? Thanks. > > You and your wife must be exhausted from the emotional drain. Although my > little girl (she'll be 4 in May) has had five surgeries, none of them comes > close to the one she will endure next summer. > > Sending gentle hugs to your little Sara. Speedy recovery, sweet girl. > > Pat and the Peach (Calgary) ========================================================================= Date: Wed, 8 Jan 1997 15:01:43 -0700 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Patricia Bacon <baconptf@TELUSPLANET.NET> Subject: Re: Sara's Surgery Yesterday Mime-Version: 1.0 Content-Type: text/plain; charset="us-ascii"

Hi Jim, and I thank you very much for your reply to my very personal questions. That surgery is really really long, isn't it? My oath, your poor wee Sara. (and all the other little ones that have to go through this).

EvaJessie was born with an extensive facial cleft called a Tessier 5 cleft with a bit of #9 clefting. What that means is that she had a split in her face from the lip and gum ridge up beside her nose, through her cheek and into her left eye. Her left eye at the inside corner was not joined so the lower lid was pulled down and out exposing most of her eyeball and the conjuctiva (the red part inside the eyelid). Her cleft is somewhat rare -- with an incidence of about 1 in 100,000 births. She also was born with a cleft palate. Her PS explains that there is a lack of bone beneath the skin -- her left orbit is bigger (the floor of the orbit is malformed) and downward and outwardly positioned. You can see her pictures of before and after her soft tissue surgery at the Wide Smiles (THE cleft resource on the Web) site in the gallery. The URL is http://www.widesmiles.org/gallery/Peach.html Her nickname is the Peach.

EvaJessie is nearly four. We have been looking toward (not forward to, however) this reconstruction since she was born. At first, I wished they would do it all right away and get it over with. Now, I wish we could put it off forever. I'm such a wus when it comes to this stuff.

The WideSmiles internet group is great for talking clefting -- and all the issues around that (which are speech and hearing and orthodontics), but few cleft affected individuals wil have this kind of surgery that EvaJessie is going to have. That is why I find this Apert list so valuable -- the parents and kids on this list are experiencing the craniofacial reconstruction more similar to what we are facing.

EvaJessie was born in the interior of BC and is being treated at the Vancouver Children's Hospital. Her surgeon is not only gifted, but has excellent respect for the needs of parents, in terms of explaining things and answering questions. We have a great craniofacial clinic here in Calgary as well, but since Doug C. in Vancouver has done all of her work so far, I am loathe to change surgeons. Fortunately, here in Canada, our health care allows us to choose our practitioner anywhere in the country.

EvaJessie's surgeon will also harvest bone from the forehead (exposing the brain) and use the inner layer of bone to construct the cheekbone and the floor of the orbit. She will also have her sinus rebuilt on that side and possibly a rhinoplasty done at the same time since they need to lengthen one side of her nose to make it even. I beleive they also need to monkey with her tear duct -- still don't understand all of the particulars.

Weren't you scared to death that they had to move Sara's brain? Good Lord. I know, as parents, we handle what we are dealt, but still ....

EvaJessie is a feisty, independent kid, very opinionated and strong willed. I keep telling myself that is a good thing. She's had five surgeries so far, four in her first year (a couple of minor procedures there) including the soft tissue (skin and muscle) repair and the palate repair.

Tomorrow she goes in for ear tubes (only her second set in nearly four years, we've been lucky on that count!) Her speech is excellent, and she is followed closely for any delays or problems.

Previous surgeries weren't too bad because she was an infant and I tried to beleive that she wouldn't remember them anyway... I don't know if that is true or not. But now, she will remember the masking for surgery, the pain afterward, the healing ... and I hope we will be strong enough to help her thru it and also to explain to her what is going on in a way that she can understand at her age and that will not destroy her trust in us as her parents. How do you explain to a 4yo that we had to let them do all this and that's why your head hurts the way it does? Well, I mustn't go on too much. It is still a few months away.

Thanks again for writing back with answers. I'm sure the angels are watching over little Sara. And my best to you and your wife as you go thru Sara's recovery and convalescence.

Sincerely, Pat Bacon in Calgary

>Hi Pat, > >The timing has gone like this so far, approximately: > >Monday- >8:30 we arrived to register >10:00 we took Sara to the holding area >10:30 they took Sara in to the O/R for prep >12:00 Craniofacial team began (1 surgeon + 2 or more others (residents?)) >they opened her skull and removed the forehead plate. 3 >Anesthesiaologists at the same time throught the surgery. >1:00 Neurosurgeon provided accessibility (moved her brain). >1:30 Neuro done, craniofacial construction began >4:30 closed her up >5:30 transported to pediatric ICU, ventilator was removed. >6:30 we were allowed to see her >She was wearing a turbin to cover her dressing, lots of blood on her >dressing (though she did not lose as much blood as I expected) She had >1.5 units in O/R and another unit (or part of one) in the evening cause >she was pale. They also gave her plasma later. We used donor-directed >blood; 5 units were donated (thanks to our church!). We went home at 8pm >(she was sleeping). > >This part was especially traumatic cause we weren't prepared for how >swollen her face was (they said it would get worse Tuesday, plus >bruising). Poor thing... > >Tuesday - >6:30 am Arrived to see her (still in ICU) a bit more swollen, and now >that she was awake, very mad too! She drank some Pedialite, and later had >a few sips of breastmilk from a bottle. > >12 noon Transferred to regular room >3pm I arrived to take over for my wife >Sara slept fitfully, constantly interrupted by noise or needle sticks >(blood tests). She had some more breatmilk but not much. >10pm My wife returned so I could go home. Kelly stayed all night. >Since we're not in the ICU anymore Sara relies on Kelly and I to get >things for her, bottles, diapers, pacifier, etc. Sara vomited a bit >overnight and didn't sleep well, but the Docs said she may still have >some anesthesia in her. > >Wednesday - > >7am - Craniofacial group removed her dressing and got her a cap to wear >(they had shaved her head) Kelly says her head looks about the same as >after her suture release surgery last July, except more swelling this >time. > >They expect her to go home Friday or Saturday, though her eyes will >probably still be swollen shut until Saturday. I am goig to relieve Kelly >at 3pm today, if any of you want to call this evening I'll probably be >free to talk (215)590-1350. Please don't call before 5PM so I am there (I >didn't tell Kelly that I gave out our number). > >As far as the difference I see, it may be hard to tell until the swelling >goes down, she does look VERY different. > >How old is EvaJessie? I am sure she is a very special child. Where are >you having the surgery done? > >Jim Younkin > > > > >Patricia Bacon wrote: >> >> Dear Jim >> Thanks for your update on Sara's surgery. My daughter will be having some >> orbital reconstruction this summer coming up. I too am anticipating the day >> with more dread than excitement. Would you mind telling me how long was the >> surgery? Was it done by a team of surgeons, or just one surgeon? Did she >> require any transfusions? (Our PS says there's an 80% chance that my >> daughter (EvaJessie) will need additional blood.) How long until the >> bruising and swelling disappears and you will see the results, or can you >> already notice a difference? Thanks. >> >> You and your wife must be exhausted from the emotional drain. Although my >> little girl (she'll be 4 in May) has had five surgeries, none of them comes >> close to the one she will endure next summer. >> >> Sending gentle hugs to your little Sara. Speedy recovery, sweet girl. >> >> Pat and the Peach (Calgary) > > ========================================================================= Date: Wed, 8 Jan 1997 17:53:39 -0500 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Little One <KBRANSTETTER@DELPHI.COM> Subject: Re: Sara's Surgery Yesterday MIME-version: 1.0 Content-type: TEXT/PLAIN; CHARSET=US-ASCII Content-transfer-encoding: 7BIT

Hi Pat, GOOD LUCK tomorrow! :-) Mom and I will be thinking of you and EvaJessie. {{{{{{{{{{{{{{{{{{{{{{{{{{PAT AND THE PEACH}}}}}}}}}}}}}}}}}}}}}}

Hugs, Kristi :-) ========================================================================= Date: Wed, 8 Jan 1997 18:22:59 -0500 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Little One <KBRANSTETTER@DELPHI.COM> Subject: Re: Sara's Surgery Yesterday MIME-version: 1.0 Content-type: TEXT/PLAIN; CHARSET=US-ASCII Content-transfer-encoding: 7BIT

Hi Jim, I read the posts about your daughter's Sara's surgery. Oh gosh, do I remember all that. Big hugs to you and your family!! {{{{{{{{{{{{{{{{{{{{{}}}}}}}}}}}}}}}}}}

I watched many kids and teens with Apert's and other similar craniofacial anomalies go thru the big surgeries.

I did not have to go thru the forehead reconstruction but I have been thru an orbital osteotomy twice. The second one was a revision and a little more extensive than the first. My plastic surgeons used bone from the top of my skull to reshape my left orbit. I was 23 yrs. old when I had it done. I had the first one done when I was 18 yrs. old.

For all those wondering about midface advancements, I've had it done once when I was 14 yrs. old. I was advised to have it done again when I was 20 yrs. old and I refused. I'm 32 yrs. old and still won't go thru it again.

There are pics of me from age 18 mos. until this past August at http://www.widesmiles.org/gallery. Just click on the name Kristi.

hgs, Kristi :-) ========================================================================= Date: Wed, 8 Jan 1997 20:49:42 -0500 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: "Donald A. Sears" <CatnDon@AOL.COM> Subject: Great News!

Today I received a call from Julie Lawley, who is the permissions coordinator at W. B. Saunders, the publisher of Clinics in Plastic Surgery. After months of negotiations, her superiors have agreed to make an exception in our case and allow us to publish the Apert issue of Clinics in Plastic Surgery, April, 1991, attached to Teeter's Page!!! The only catch is that it will have to be text only - no photos or illustrations. This was her verbal permission to me, and she is sending a letter later this week, so I won't do anything until I get that. I would have preferred to publish the whole thing, of course, but I admire the publisher for wanting to protect the rights of those individuals whose photos would be used without their express permission.

Look for an update soon! I appreciate all the positive comments you have expressed, and I'll get on those corrections right away.

Don ========================================================================= Date: Wed, 8 Jan 1997 21:09:18 -0500 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: "Donald A. Sears" <CatnDon@AOL.COM> Subject: Fwd: Great News!

--------------------- Forwarded message: Subj: Great News! Date: 97-01-08 18:00:27 EST From: Cat n Don To: apert@listserv.aol.com

Look for an update soon! I appreciate all the positive comments you have expressed, and I'll get on those corrections right away.

Don ========================================================================= Date: Thu, 9 Jan 1997 09:14:25 -0500 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: George Starr <daystar@IGLOU.COM> Subject: Re: Sara's Surgery Yesterday MIME-Version: 1.0 Content-Type: text/plain; charset=ISO-8859-1 Content-Transfer-Encoding: 7bit

Kristi, Tons of questions for you!!! What is the recovery rate for the midface for adults?? How much pain is involved? What can I expect as the one who will be taking care of Rosemarie If she decides to go through with this? Why wouldn't you go thru it again? and then what would be the advantages to you to go thru it again? Thanks George

> > For all those wondering about midface advancements, I've had it done once when > I was 14 yrs. old. I was advised to have it done again when I was 20 yrs. old > and I refused. I'm 32 yrs. old and still won't go thru it again. > > There are pics of me from age 18 mos. until this past August at > http://www.widesmiles.org/gallery. Just click on the name Kristi. > > hgs, > Kristi :-) ========================================================================= Date: Thu, 9 Jan 1997 09:46:10 -0500 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: George Starr <daystar@IGLOU.COM> Subject: Re: Great News! MIME-Version: 1.0 Content-Type: text/plain; charset=ISO-8859-1 Content-Transfer-Encoding: 7bit

Great news, Don!!! I know the amount of work you have done to get to this stage. It a shame about the pictures, but at least the text will be there. Now you really have a lot of work ahead of you and Cathy getting the book converted into text! This is a great step for the page! Good Job!! Now for all the other articles that you have (BTW: You still have my orginal copies of several, maybe we'll have to pick them up on our next vacation!!!)

Thanks again George

> Today I received a call from Julie Lawley, who is the permissions coordinator > at W. B. Saunders, the publisher of Clinics in Plastic Surgery. After months > of negotiations, her superiors have agreed to make an exception in our case > and allow us to publish the Apert issue of Clinics in Plastic Surgery, April, > 1991, attached to Teeter's Page!!! ========================================================================= Date: Thu, 9 Jan 1997 19:01:30 -0500 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Little One <KBRANSTETTER@DELPHI.COM> Subject: Re: Sara's Surgery Yesterday MIME-version: 1.0 Content-type: TEXT/PLAIN; CHARSET=US-ASCII Content-transfer-encoding: 7BIT

Hi George, Even tho times have changed since my first midface/jaw advancement 18 yrs. ago, I still wouldn't go thru it again. My surgery was done back in the days when one's jaws were wired for six or more weeks. Mine were wired for six weeks and four days. I had more reconstruction at the time of midface/jaw advancement.

Recovery time was long at that time. I missed 4 1/2 months of school. I was in 8th grade at the time. I lost a lot of weight (over 15 lbs.)

When I was advised at 20 to have it done again, my parents and I both told the plastic surgeons, "No." We had been thru it once and were not willing to go thru it again. Plus I was in college at the time. My plastic surgeon advised me to have it done before I was 30 yrs. old.

My jaws are not aligned properly. I have a lot of pain on the right side of my jaw but I've had that since 1980 (about 2 yrs. after my jaw advancement). I thought that I had an ear infection so I went to my ENT. He told me that the pain was coming from my jaw not my ear. I've learned to live with the pain all these years.

Hugs, Kristi :-) ========================================================================= Date: Thu, 9 Jan 1997 12:21:35 -0500 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Marianne Camous <CAMOUS@CHATHAM.EDU> Subject: Re: Sara's Surgery Yesterday

Jim, Thanks ever so much for this posting! Evan has his surgery next Tuesday (1/14) and this is wonderful to see- especially for my non- medically oriented husband. As a (formerly surgical) PA, I sometimes take little things like timing for granted. I did make the mistake of saying (in front of surgical nursing personnel) thet I'd rather be in the OR watching the case than in the waiting room- they now all think I'm REALLY even stranger than they had previously thought...Oh well! Yesterday, I was rejected by the blood bank as a directed donor for Evan (we are both O neg) as I had been given Rhogam during my pregnancy. My question for those who have done this before is "does anyone have any tips on how to handle things with siblings while the baby brother is in the hospital for this long?" From my experience when Evan was hospitalized with his trach- it was tough trying to be 2 places at once. The staff at Children's seem to expect parents to do a lot of caretaking..and at 6 months Evan will notice when I'm there much more than he did at 4 weeks ....but I also have a 6 and 3 1/2 year old at home who "melt down" if they don't have enough "Mommy time". My husband is not very comfortable in the hospital environment.....When do you bring siblings in to visit?? They are very comfortable with his trach, know he is having surgery, etc- but bloody head dressings may be a spectre they don't need. I wonder what others have done?? We have no family in the area so distracting them with grandparents is not an option.

Don- thanks for your hard work on the 91 CIPS book! I'm looking forward to it! I'll get a new printer cartridge just for it!

Add our hugs to Sara and all who are starting 97 with surgery! I think ( hope) the anticipation is probably more trying in some ways than the actual event!

Happy New Year to all!

Marianne and Evan ========================================================================= Date: Thu, 9 Jan 1997 16:10:48 -0600 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: "Allen & Mary J. Rus" <MRUS@RIA-EMH2.ARMY.MIL> Subject: Re: Sara's Surgery Yesterday Mime-Version: 1.0 Content-Type: text/plain; charset=US-ASCII Content-Transfer-Encoding: 7bit

Jim,

Our blessings to you, your family and baby Sara. Just have to know if the orbital advancement was discussed in addition to the distraction procedure. I realize that the LeFort III and distraction procedure is now a favor alternative over simply the LeFort III alone. Did your surgeon discuss any of this with you? Is there more discomfort with the distraction or did he recommend waiting on this. Also, what did Sara experience that warranted the orbital advancement at 9 months of age? I may be getting this confused with the midface advancement procedure, but maybe there is a surgery out there that may benefit our daughter that I'm not aware of. We are also gearing-up for a two year team evaluation and I want my "guns loaded" with information. Please help!

Keep the Strength!

Mary Rus

P. S. If you have an opportunity to see Mark and Paula, Mike and Timothy again, please tell them the Rus' say "Hi". Our children had their cranial surgeries about two weeks apart. And we also met at Children's Hospital, St. Louis.

______________________________ Reply Separator _________________________________ Subject: Sara's Surgery Yesterday Author: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> at SMTP-DDN Date: 1/7/97 7:32 AM

Thank you all so much, may God bless all you special parents and children; he chose us to care for them.

Jim Younkin ========================================================================= Date: Fri, 10 Jan 1997 21:00:15 -0500 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: "Donald A. Sears" <CatnDon@AOL.COM> Subject: Fwd: New Granddaughter MIME-Version: 1.0 Content-Type: text/plain; charset=unknown-8bit Content-Transfer-Encoding: quoted-printable

I am subscribing him to the listserv, everybody! --------------------- Forwarded message: Subj: New Granddaughter Date: 97-01-10 09:23:26 EST From: FGJSR To: Cat n Don

Dear Don & Cathie,

My daughter made me the proud Grandpa of a baby girl (Marisa) on January = 4, 1997. Unfortunately, Marisa has Apert Syndrome. While searching the Internet fo= r information on Aperts, I discovered your wonderful family and web page. What you are doing is fantastic. Although all of us love Marisa beyond what I thought possible,= the surgeries and procedures the doctors were describing to us seemed overwhelming. My daug= hter and son in law came over the other evening and I showed them Teeter=92s page. We = read all the stories, looked at all the pictures, read all the info,etc. and I could s= ee the hope just bursting from our new parents. THANK YOU!

Marisa=92s parents are Jennifer and Jeff VanTil and they live in Grand Ra= pids, Michigan. This is their first child (also my first grandchild) but they are thinkin= g of having more. We are, of course, still somewhat confused and seeking knowledge and support. Jeff & Jenn do not have a computer but asked me to contact you and present Marisa to = the wonderful group of families on your page. They would like to have a link to their o= wn page. I will forward a picture as soon as I get more copies printed. I ran out.

My Email address is fgjsr@aol.com and we welcome any contact.

Sincerely,

Frank Jocis Grandpa

January 2, 1997 Jenn felt first labor pains at 6:00 PM.

January 3 & 4, 1997 Jeff took Jenn to hospital at 3:30 AM. She was in labor until 6:00 PM on January 4th, when doctors realized the baby had to be delivered cesarean. Marisa= was born at 6:12 PM on January 4, 1997! =20

January 4 The nurses wheeled Marisa out of surgery and directly into the Neonatal special care room. Jenn=92s doctor immediately asked to see all the family prese= nt and informed us of Marisa=92s condition and described Apert=92s the best she= could. Jenn was taken to recovery and the family lined up (literally out the door) t= o meet Marisa for the first time. She=92s beautiful!

January 5 Marisa was having serious breathing problems, her nasal passages are alm= ost completely closed. The hospital she was in was not equipped to handle th= is situation, so Marisa and Mom were separated. Marisa was moved to a diffe= rent hospital.=20

January 6 Marisa spent this day getting many, many tests. Mom spent her day drivin= g the nurses, doctors, husband, parents, and anyone else that wandered into he= r room crazy trying to get released so she could be with Marisa (even though Mo= m was having serious side effects from the cesarean.).

January 7 Mom and Marisa reunited! The family had a consultation with doctors, the= y presented us with a team of surgeons, which had experience with Aperts, = and they were available in Grand Rapids. We also were informed of the difficultie= s down the road for Marisa and the possibility of a tracheotomy to put a tube in Ma= risa throat so she could breathe & eat properly.

January 8 A great day! Mom able to hold, rock, change, bathe, hug & cuddle Marisa = for the first time (Also Grandparents). Family photos taken and everyone very ha= ppy. Only sad news was the tracheotomy was needed ASAP.

January 9 Marisa has first surgery at 5 days old. She now has a trache tube but ha= s already learned to use it and is recovering fine. All her internal organs seem t= o be fine and estimated time to bring her home is 7 days! ========================================================================= Date: Sat, 11 Jan 1997 13:38:29 -0500 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: "Donald A. Sears" <CatnDon@AOL.COM> Subject: Fwd: [Fwd: an isolated case in Paraguay] MIME-Version: 1.0 Content-Type: text/plain; charset=unknown-8bit Content-Transfer-Encoding: quoted-printable

I'm open to suggestions on this one folks - any ideas??? I have not repl= ied to them as of yet. --------------------- Forwarded message: From: rcanete@uninet.com.py (Ramon Canete) To: catndon@aol.com Date: 97-01-11 10:57:27 EST

Paraguay is small country in middle of south america country, between=20 Argentina,and Brazil.

I am a friend of IVAN=B4S fhather(Oscar). Ivan is an Aper syndrom case. H= e=20 is trhee month old. Here in Paraguay doctors have a very poor=20 information about this syndrom, and so as. We are worry about how to=20 deal with situation. Some doctors say the first surjery must come when=20 he is four or five years old. Other says the surjery must come now.=20

Ivan is the fourth and the last child in the family, the others three=20 are perfectly normals. Alexia (10),Navila (6); Fabricio (5).Ivan=B4s was=20 born with 32 weeks. He is perfectly normal in the others internal organs=20 parts exept for the acrocefasindactilia.

We like to recived any asistence and direction about how to proceed and=20 at what time or age. Our economical possibilities are not very good but=20 were are a Christian family and we tust in God that He will provide por=20 him. We will be so pleased if you can help us with any information or some=20 posibilities as soon as possible.

For more serius contact we can send pictures, medical history and any=20 other request needed. For contact Oscar=B4s family you can contact me at=20 internet: rcanete@uninet.com.py or Oscar address: Oscar Branda P.O.Box 1112=20 Asuncion - Paraguay, Sur America "Then Samuel took a stone an set it up between Mizpah and Shen. He named=20 it EBENEZER, saying Thus fas has the Lord helped us". 1 Samuel 7: 12

In expectance of you

Ramon, Oscar and Ivan. ========================================================================= Date: Sat, 11 Jan 1997 12:26:09 -0700 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Patricia Bacon <baconptf@TELUSPLANET.NET> Subject: Re: Fwd: [Fwd: an isolated case in Paraguay] Mime-Version: 1.0 Content-Type: text/plain; charset="iso-8859-1" Content-Transfer-Encoding: binary

Don: Sabrapar, the craniofacial surgical hospital/research institute is located in Brazil -- at least it is on the same continent as Paraguay. Here's the URL for Sobrapar (you can also get there via PLink -- have you checked out PLink yet anyone?)

http://brasil.emb.nw.dc.us/NIB/SOBRAPAR/

And here is the URL for Plink http://www.nvpc.nl/plink/

That's all I have for now. Pat in Calgary (EvaJessie's mama)

>I'm open to suggestions on this one folks - any ideas??? I have not replied >to them as of yet. >--------------------- >Forwarded message: >From: rcanete@uninet.com.py (Ramon Canete) >To: catndon@aol.com >Date: 97-01-11 10:57:27 EST > >Paraguay is small country in middle of south america country, between >Argentina,and Brazil. > >I am a friend of IVAN´S fhather(Oscar). Ivan is an Aper syndrom case. He >is trhee month old. Here in Paraguay doctors have a very poor >information about this syndrom, and so as. We are worry about how to >deal with situation. Some doctors say the first surjery must come when >he is four or five years old. Other says the surjery must come now. > >Ivan is the fourth and the last child in the family, the others three >are perfectly normals. Alexia (10),Navila (6); Fabricio (5).Ivan´s was >born with 32 weeks. He is perfectly normal in the others internal organs >parts exept for the acrocefasindactilia. > >We like to recived any asistence and direction about how to proceed and >at what time or age. Our economical possibilities are not very good but >were are a Christian family and we tust in God that He will provide por >him. >We will be so pleased if you can help us with any information or some >posibilities as soon as possible. > >For more serius contact we can send pictures, medical history and any >other request needed. For contact Oscar´s family you can contact me at >internet: rcanete@uninet.com.py > or Oscar address: > Oscar Branda > P.O.Box 1112 > Asuncion - Paraguay, > Sur America >"Then Samuel took a stone an set it up between Mizpah and Shen. He named >it EBENEZER, saying Thus fas has the Lord helped us". 1 Samuel 7: 12 > >In expectance of you > >Ramon, Oscar and Ivan. > > ========================================================================= Date: Sat, 11 Jan 1997 18:23:15 -0500 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Jonathan Gentz <IrsNav@AOL.COM> Subject: Introduction & ?'s about scaring and the use of vitamin E

Hello Everyone

My name is Ann Gentz(28). My family consists of husband Jeff(28), my 3 year old daughter Rachel and my 7 month old Jonathan. Jonathan was born with Apert Syndrome. So far he has had surgery to release fused (coronal) sutures along with frontal orbital advancement at 3 months. At 6 months he had surgery to repair his soft cleft palate. We are very pleased to have this done because Jonathan had some real troubles trying to eat. With extremely small airway passages through his nose and a cleft palate-combined with his initial hospitalization (17 days) for a pneumothorax-he had poor sucking ability. He was unable to breast feed (this was greatly disappointing to me!) and not even able to bottle feed well. He was always offered the bottle first, but could only get down and ounce or two before he fell asleep. After he fell asleep we would gavage tube feed him the rest of his feeding. He was starting to eat solids pretty well before surgery, but had difficulty with food getting into the nasal passages and he would start sneezing it everywhere. After surgery he is basically drinking mostly from a cup and eating a lot of solids. He still likes his bottle at nap and bedtimes though. At the 6 month surgery they also started to separate the fingers of his right hand. His pinky (which was almost cleft anyway) was totally separated and down past the fingernails on the others. It looks like we will be having the same procedure done on the left hand in late Feb. or early March. This first hand surgery went so well I am tempted to try to push the doctor to totally separate the pinky and pointer finger on the next surgery. Any advice on this? Within 2 weeks of the surgery Jonathan's hand looked very nice and now after a month it looks really good! Our early intervention OT suggested we massage vitamin E onto his fingers to help soften scar tissue. Have any of you done this? Does it help? Any advice would be greatly appreciated! Our plastic surgeon is very interested in distraction on infants-saying that their bones are so pliable. Has anyone else used or heard of distraction without the LeFort surgery? What about the pain of distraction, it sounds extremely uncomfortable to me. I can hardly imagine distraction on a child outside of a hospital environment. I think our doctor had a time frame of a couple months in mind. Again I really appreciate any input that any of you have, especially if you have used any of these procedures.

God Bless You All!

The Gentz's-Appleton, Wisconsin GO PACKERS!!!!!!!!!!!!! ========================================================================= Date: Sun, 12 Jan 1997 23:15:03 EST Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: "Amy H. Irvin" <76121.202@COMPUSERVE.COM> Subject: Help for Ivan Comments: To: Ramon Canete <rcanete@uninet.com.py>

Dear Ramon, I am the Mom of an almost 7 year old son with Apert. Last year when I was first exploring the internet, I found the Website for Sobrapar, the Institite for Craniofacial Surgery in Campinal ,Brazil. I then e-mailed the doctor who is hte head of to ask him what he knew about the treatment of Apert Syndrome, and he gave me some valuable information. He also told me to keep in touch and said if he could ever be of help to let him know. His name is Dr. Cassio M. Raposo do Amaral. Here are the credentials he quoted to me: Plastic Surgeon, Corresponding member of hte American Society of Plastic and Reconstructive Surgeons and active member of the International Society of Craniofacial Surgeons; President of the Institute for Craniofacial Plastic Surgery (Campinas, Brazil); Head of Plastic Surgery (State University of Campinas, Brazil)

I believe that he could help Ivan. He said that they have treated many children with Apert there. His e-mail address is: INTERNET:sobrapar@turing.unicamp.br

There are also several organizations that provide surgery at no cost for children with craniofacial conditions. Interplast and Operation Smile are the names of two of them. I don't know if you can reach them over the Internet (I've never tried). If you need me to, I can find out more information and get back to you. Take care and good luck to Ivan. Tell his parents not to worry too much and to enjoy their precious baby. They grow so fast. My Alex , in spite of his surgeries and Apert-related problems is a well-adjusted 6 year old boy in Kindergarten. He is full of life, has a great sense of humour and doesn't let anyone tell him that he cannot do something . He loves people and likes to make us all laugh. I don't know where I would be without him in my life. If there is any other way I can help, let me know. Amy Irvin ========================================================================= Date: Mon, 13 Jan 1997 09:25:33 -0500 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: George Starr <daystar@IGLOU.COM> Subject: Re: Sara's Surgery Yesterday MIME-Version: 1.0 Content-Type: text/plain; charset=ISO-8859-1 Content-Transfer-Encoding: 7bit

Kristi, We went and met with the team Friday (01-10-97) and all went well, they were more concerned about the crainial cavity than the mid-face. They have to do both suguries on her to do the mid-face. They claim a 3-week recovery after each, with no jaw wired shut period. Braces on teeth before and after. And it will help her handle the colds better. They claim a little pressure on the brain can cause servere problems latter and are going to test to see if the crainial part is a must. (it is if they do anything) at this point Rosemarie plans to go through with it for dental and to help with the colds. We'll keep everyone advised. Thanks George ========================================================================= Date: Mon, 13 Jan 1997 10:21:44 -0500 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: "Donald A. Sears" <CatnDon@AOL.COM> Subject: Knee pain?

Has anyone out there gotten complaints of knee pain? Teeter complains at bedtime of this and sometimes wakes up earlier than normal, screaming. We're pretty sure the pain is real. On her last visit to the Shriners for an orthopaedic checkup, they attributed it to 'growing pains' and said all kids go through it. I'm not sure I buy that. It has been more frequent in the last month or so. Thanks for you input.

Don ========================================================================= Date: Mon, 13 Jan 1997 09:39:27 -0600 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Bob Horning <Bob.Horning@CORP.HONEYWELL.COM> Subject: Re: Knee pain?

Krista had growing pains for a year or so. Not a lot, but off and on. They went away without any lasting effect. They seemed to be more in the middle of the leg bone rather than at the joint in her case. Now our middle daughter has them too. The scenario is about the same as you describe. Pain at bedtime (while you are awake) and then more pain in the middle of the night (when you want to be asleep). Give her some Tylenol and snuggle up with her for awhile; that usually will take the edge off the pain.

Our experience with Krista is that anytime she gets one of the ordinary childhood ailments (cold, flu, chicken pox, etc., etc. etc.) she gets it worse than the average kid. I guess the growing pains weren't too bad, but perhaps Teeter is experiencing the same trend?

It sounds like regular growing pains to me, but it can't hurt to check with her reqular pediatrician. We usually ask the same questions to 2-3 doctors just to get as much information (opinion) as possible. In the end, we are the ones who have to do make a decision about it. Each Dr. gives his or her opinion (and they often differ somewhat), and then we can couple that with any other observations and make the best decision.

Bob Horning Savage, MN horning_bob@htc.honeywell.com _______________________________________________________________________________ From: Donald A. Sears on Mon, Jan 13, 1997 10:25 AM Subject: Knee pain? To: Horning Bob; Information exchange for Apert Syndrome and other craniofacial a

Don ========================================================================= Date: Mon, 13 Jan 1997 14:09:10 -0500 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: George Starr <daystar@IGLOU.COM> Subject: Re: Knee pain? MIME-Version: 1.0 Content-Type: text/plain; charset=ISO-8859-1 Content-Transfer-Encoding: 7bit

Don, I did have some pain growing up in the legs, not the knee it's self. I assumed these pains were the muscles being streched or something due to growth. As you know I don't have aperts, but I would assume that the joints could be affected to some extent. I think I'd try and get them to do x-rays and at least look. (I'm sure you have already addressed this) Rosemarie never had any knee pain until she was in a car accident a few years back. Every now and then they bother her, mostly when she sits on them wrong. Wish you luck with the doctors.

Thanks George

> Subject: Knee pain? > Date: Monday, January 13, 1997 10:21 AM > > Has anyone out there gotten complaints of knee pain? Teeter complains at > bedtime of this and sometimes wakes up earlier than normal, screaming. We're > pretty sure the pain is real. On her last visit to the Shriners for an > orthopaedic checkup, they attributed it to 'growing pains' and said all kids > go through it. I'm not sure I buy that. It has been more frequent in the > last month or so. Thanks for you input. > > Don ========================================================================= Date: Mon, 13 Jan 1997 14:36:50 -0500 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Little One <KBRANSTETTER@DELPHI.COM> Subject: Re: Sara's Surgery Yesterday MIME-version: 1.0 Content-type: TEXT/PLAIN; CHARSET=US-ASCII Content-transfer-encoding: 7BIT

Hi George, I'm glad to hear that Rosemarie's visit with the craniofacial team went well. :-)

I still wouldn't go thru the jaw surgery again. When I had my first midface/jaw advancment, my midface and jaw were moved 3/4 of an inch forward. My plastic surgeon took bone from my right hip and shin. I am skeptical about using banked bone. I've never had any problems with infections.

I was told by my plastic surgeon (world re-nown) that I had to have the second advancement before I was 30 yrs. old.

I am very surprised that the doctors say three weeks recovery for each surgery. Are they going to use donor sites from Rosemarie or use banked bone?? When will her first surgery be scheduled?

I am not prone to getting sick. I might get a cold twice a year. In 1996, I wasn't sick at all. We've had some illness in my family this winter but so far I haven't caught anything.

Hugs, Kristi in the deep freeze :-) ========================================================================= Date: Mon, 13 Jan 1997 15:23:11 -0500 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: George Starr <daystar@IGLOU.COM> Subject: Re: Sara's Surgery Yesterday MIME-Version: 1.0 Content-Type: text/plain; charset=ISO-8859-1 Content-Transfer-Encoding: 7bit

Kristi, > I still wouldn't go thru the jaw surgery again. When I had my first > midface/jaw advancment, my midface and jaw were moved 3/4 of an inch forward. > My plastic surgeon took bone from my right hip and shin. I am skeptical about > using banked bone. I've never had any problems with infections. I don't know as of yet, This was our first meeting with the "TEAM", I would guess she will wait until may or june, we won't hear anything for about 3 weeks, and it will be a couple of months after that before anything is scheduled. It's a lot to calculate on right now!! I'm sure she will read all of this over and think a little harder about it. Thanks George

p.s. It's Cold here also hit one below zero this morning!!! Burrrrrrr.......

> > I was told by my plastic surgeon (world re-nown) that I had to have the second > advancement before I was 30 yrs. old. > > I am very surprised that the doctors say three weeks recovery for each > surgery. Are they going to use donor sites from Rosemarie or use banked > bone?? When will her first surgery be scheduled? > > I am not prone to getting sick. I might get a cold twice a year. In 1996, I > wasn't sick at all. We've had some illness in my family this winter but so far > I haven't caught anything. > > Hugs, > Kristi in the deep freeze :-) ========================================================================= Date: Mon, 13 Jan 1997 16:42:06 -0800 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Jim Younkin <jim@PHILLYDINE.COM> Subject: Re: Sara's Surgery Yesterday MIME-Version: 1.0 Content-Type: text/plain; charset=us-ascii Content-Transfer-Encoding: 7bit

Marianne,

Thanks for the wishes... Sara is doing very well. She came home Friday and the swelling is much better.

As far as siblings, we have two others...7 y/o son, Jordan and 3 y/o daughter, Katie. Sweet kids, and spoiled to death by both sets of parents that took turns with them. Both parents came from out of town (4 hours) to stay with the kids while Kelly and I were with Sara around the clock (taking turns of course!).

- Jim ========================================================================= Date: Mon, 13 Jan 1997 16:52:15 -0800 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Jim Younkin <jim@PHILLYDINE.COM> Subject: Re: Sara's Surgery Yesterday MIME-Version: 1.0 Content-Type: text/plain; charset=us-ascii Content-Transfer-Encoding: 7bit

Mary Rus,

>>what did Sara experience that warranted the orbital advancement at 9 months of age?<<

With Aperts her hear was growing upwards instead of forward which presents potential pressure problems for the brain, also her eyes are not protected so eye injuries could be a problem as well. But probably the most significant factor was that at 9 months the bones are still very pliable (yet firmer then at 3 months) so they much easier to work with and give the best shaping possible. I expect it will be easier in future surgeries if the head is shaped properly earlier on, it will give them more to work with.

Believe me, even though I worry about Sara's future and acceptance by other children, I don't think I would put her thru this purely for cosmetic reasons. Still something I am struggling with.

Anyway the doctors at CHOP have a plan when surgeries will occur (largely dependant on how Sara develops), next will be her fingers. Then her thumbs at age 4 (approx). The next craniofacial (orbital or midface) depends on how she develops. The midface sounds even worse that the orbital advancement. As far as the term "distraction" this may be another term for the orbital advancement, I don't know for sure.

- Jim ========================================================================= Date: Tue, 14 Jan 1997 12:04:37 -0500 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Tony & Sandy Deakins <TDeakins1@AOL.COM> Subject: Re: Adult surgery

I have been monitoring the various discussions regarding pros- and cons- of mid-face advancement surgery. Most of the cons- appear to be centered on the pain and anguish some have suffered with this surgery. The pros- are consistently normalized appearance and improved upper respitory function.

The one mid-face that our daughter Casey went through was remarkably pain free for her. She did contract an infection which drove us all to distraction in its persistence, but, still, while it was some discomfort to her, to be sure, nonetheless I would not categorize any of it as being "painful". Casey will undergo another mid-face this coming summer and we hope for similar outcomes as were achieved in the first. She will probably have her last mid-face when she is fourteen (she is presently ten).

The benefits produced by this surgery for Casey have been life-critical and even the more minimal accomplishments have been highly valuable. I wonder if the differences in experience have something to do with the surgeon or, possibly, the techniques of one surgeon versus another. I don't know and probably would not understand the answer were it furnished. I do know that, while grossly inconvenient and bothersome for Casey and her family, we actually look forward to the outcomes of the next surgery. Even Casey verbalizes her expectations and "requirements".

The issue is, no doubt, an interesting one. Tony Deakins ========================================================================= Date: Tue, 14 Jan 1997 16:25:44 -0500 Reply-To: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> Sender: Information exchange for Apert Syndrome and other craniofacial anomalies <APERT@LISTSERV.AOL.COM> From: Little One <KBRANSTETTER@DELPHI.COM> Subject: Re: Adult surgery MIME-version: 1.0 Content-type: TEXT/PLAIN; CHARSET=US-ASCII Content-transfer-encoding: 7BIT

Hi Tony, It wasn't the agony and the pain that was a factor in the decision. I can deal with the pain and the agony. I have a very high tolerance to pain. My physical well-being was the deciding factor. The day before my midface advancement, I weighed 75 lbs. I had to have surgery 17 days later to release two skin grafts. The night before that surgery, I weighed 59 lbs. We estimated that I probably lost around 20 lbs. in total. It took me a long time to re-build my strength and re-gain the weight I lost.

The important thing to me now is to get my nasal reconstruction done. I figure that I'll have surgery sometime late this spring on my nose.

Hugs, Kristi :-)