Dear Alice,
     Roxy's mid-face advancement was at seven years old.  Her plastic
surgeon, Dr. Henry Kawamoto who also was a dentist (D.D.S.) at UCLA,
advanced her midface a whopping 25 mm, which is a calculated over
correction.   In time, Roxy's face continues to recess and undermines some
of the work.   We see that happening now at age nine.  So she will undergo
another surgery in her teen years (wait at least one year after her menstral
cycle starts).
     I understand that the second surgery is needed for fine-tuning
(resulting from growth) and for jaw alignment.  Roxy has already begun
orthodontic work, and has a severe underbite and the typical overcrowding of
teeth.  Somehow, all this will resolved together.
     When is the optimal time for mid-face advancement?"  I don't know.  I'm
sure each case is unique.  As for Roxy, it has helped her self-awareness and
self-esteem to get it done early.  She is fully included in regular 4th
grade (hurray!) and enjoying the class.  The operation also helped improve
her speech and breathing.
     On the other hand, sometimes she complains of headaches  The planned 5
day hospital stay turned into 3 weeks when complications resulted in
numerous failures to wean her off the respirator.  She also lost a couple of
teeth by mistake!  It took her a couple of months to fully recover.  The
benefits outweigh the minor setbacks.
     Best wishes in your seach for Shirley's medical care.

Rose
La Mirada, CA
=========================================================================
Date:         Thu, 29 Oct 1998 22:36:08 +1300
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
Sender:       Information exchange and Internet safe haven for Apert Syndrome
              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
From:         Howard & Ann <howrdnan@IHUG.CO.NZ>
Subject:      Re: Mid face advancement
Mime-Version: 1.0
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Greetings Alice

Amy's first mid-face advancement was done at 10 weeks and we were told no more until she had stopped growing.  Now they are considering doing it again and she is nearly eight years old.  They would also do it again when she stops growing.

My understanding is that it was done originally to provide room for the brain to grow and to protect the eyes, because the orbits are so shallow.

Psychosocially it has been shown that if children have the facial reconstruction done in mid childhood they cope better - I can imagine this would be the case and I think we probably will have Amy "done" before she goes on to Intermediate School (years 7+8/Forms 1+2) and High School.  With the hormones coming in full force one cannot predict how each child will respond.

And of course done again when she stops growing to ensure everything is where it "should" be.

Our surgeons are rather conservative - all this is done in the public health system so there is not the financial incentive of surgery available privately.

Another point - the fewer operations to interfere with school schedules the better.

Regards
Ann
NZ
=========================================================================
Date:         Thu, 29 Oct 1998 07:29:46 EST
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
Sender:       Information exchange and Internet safe haven for Apert Syndrome
              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
From:         Jenngram@AOL.COM
Subject:      Re: BJ
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Marjorie, David and family,

Please know ya'll are in our thougths and prayers. Even though we did not know
him personally, we feel as though we did and his strength and attitude is
something I hope to instill in Jordan as he grows. BJ is a role model for us
all....

Jennifer Graham (Tampa/ St. Petersburg)
=========================================================================
Date:         Thu, 29 Oct 1998 08:23:44 EST
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
Sender:       Information exchange and Internet safe haven for Apert Syndrome
              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
From:         Shirley Tanner <TANRANCH@AOL.COM>
Subject:      Re: A BJ update
Mime-Version: 1.0
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Marjorie & Family,
     I am new on the listserv & don't know you & your families background but
I am terribly sorry for your loss.  Loosing a child has got to be the most
horrible thing a parent can go through. May God be with you & yours.

Shirley Tanner
(Hartford, AL)
=========================================================================
Date:         Thu, 29 Oct 1998 12:06:01 EST
Reply-To:     Information exchange and Internet safe haven for Apert Syndrome
              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
Sender:       Information exchange and Internet safe haven for Apert Syndrome
              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
From:         NephiRose@AOL.COM
Subject:      Concerns
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Dear list serv family,

  First I wanted to share my sympathies with the Harmon family in their loss
of their son, BJ.  I agree that I cannot imagine anymore more horrible or sad
than losing a child.  Which is a topic I'd like to address....

  It really is a sensitive topic and I'm not sure how to broach it.  I
remember when I was pregnant with Sarah V., I had read something in the
myriads of papers on Aperts that Bill, my husband, kept bringing home.  In one
of them mention about some having short lifespans.  I really did not know that
validity of this statement at the time and expected to give birth to a still
born.  Imagine my relief when Sarah was born alive and kicking.  However, the
first 6 months I kept worrying if she would make it to the first year.
Finally, Bill sat me down and told me that I really needed to enjoy with each
day with Sarah and be grateful for the days that I have. (Sarah is really a
health child other than aperts so I had no reason to worry, really, other than
Aperts.)
So I decided to do that and I shoved the overprotective instincts away.

  Now, I noticed that three children from the Apert list serv has died this
past year.  The question is "Is this common?"  "is my child at risk?"  I know
I am being such a terrible ninny here and probably an insensitive one.  But I
honestly don't know who else to ask.  What are the factors that endanger the
children?  Is it too many surgeries?  I'd be grateful for any input from any
of you.  I've sat on this for about two days until I had the guts to say
something, so pls forgive me if I've offended anyone on this subject.

Belinda Vicars
(Utah)
=========================================================================
Date:         Sat, 29 Aug 1998 01:26:33 -0400
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
Sender:       Information exchange and Internet safe haven for Apert Syndrome
              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
From:         Andrea Gartner <agartner@PEGANET.NET>
Subject:      Re: BIRTH ANNOUNCEMENT
MIME-Version: 1.0
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Dear Carol & family,

Congradulations on the birth of Aaron James  I wish him and your family the
very best of luck.

-Andrea.
=========================================================================
Date:         Sat, 29 Aug 1998 01:32:13 -0400
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
Sender:       Information exchange and Internet safe haven for Apert Syndrome
              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
From:         Andrea Gartner <agartner@PEGANET.NET>
Subject:      Re: BJ
MIME-Version: 1.0
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Dear Marjorie & Family,

I am so sorry to hear that BJ has passed.  Although didn't know him
personally, I felt like I did, for his strength.  He will never be
forgotton.
 

-Andrea
=========================================================================
Date:         Thu, 29 Oct 1998 14:05:14 -0500
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
Sender:       Information exchange and Internet safe haven for Apert Syndrome
              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
From:         Richard Thornquist <rlthorn@EARTHLINK.NET>
Subject:      Re: Help! Dr. Upton
MIME-Version: 1.0
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Janine,

This is Lynn Thornquist (blast from the past).  My son Andrew is a
patient of Dr. Upton's.  His phone number is 617-739-1972.  His office
is in Chestnut Hill, MA.  I am actually planning on seeing him this
coming Tuesday regarding Andrew's feet.  Please let me know if you need
anything else.

Lynn
rlthorn@earthlink.net
=========================================================================
Date:         Thu, 29 Oct 1998 14:10:30 -0500
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
Sender:       Information exchange and Internet safe haven for Apert Syndrome
              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
From:         Richard Thornquist <rlthorn@EARTHLINK.NET>
Subject:      Re: Help! Dr. Upton
MIME-Version: 1.0
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Janine,

It is me, Lynn Thornquist, again.  And Beth you are correct, that is his
number, I know it like the back of my hand.

Just one thing, Children't Hospital is useless when it comes to finding
Dr. Upton, since his office is not at Children't Hospital.  He does
perform surgeries there, as well as Beth Israel Hospital, but his office
is on Boylston Street, like Beth indicated.

Take it from someone who lost his number in the very beginning and tried
contacting Children's for it.  I had better luck contacting The National
Birth Defects Center in Waltham, MA.

Hope this helps some.

Lynn

p.s.  Again, please feel free to contact me personally.
=========================================================================
Date:         Thu, 29 Oct 1998 14:14:18 -0500
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
Sender:       Information exchange and Internet safe haven for Apert Syndrome
              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
From:         Richard Thornquist <rlthorn@EARTHLINK.NET>
Subject:      Re: Mid face advancement
MIME-Version: 1.0
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Alice,

My son's Plastic Surgeon had also said at about 8 years old for the
midface advancement.  The reason is because if it is done too early the
bones will not hold properly.  I'm not really sure why not later, but I
personally think that earlier is better.

As far as Andrew's doctors, his Plastic Surgeon is the one who will
perform the surgery, with possibly a little bit of input from the
Nuerosurgeon.  My feeling is to ignore the Dentist and follow your
Plastic Surgeon's suggestions.

Lynn Thornquist
=========================================================================
Date:         Thu, 29 Oct 1998 14:33:05 -0500
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Sender:       Information exchange and Internet safe haven for Apert Syndrome
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From:         foster <foster@ICONTECH.COM>
Subject:      Concerns
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I can not speak for anyone else but, I have asked myself the same questions
you have. I read something about it not being know for sure the life span. I
may be more worried right now because Billy has been so sick lately. But,
lets not forget about the adults we have here on our server who have Apert.
They seem to be doing pretty well and thats what I remind myself of when I
feel anxious about Billy's future.

I would like to share with everyone a little story about my cousins son
Mike. He was born with MD and was not expected to live to see his 12th
birthday. He walked and went to school right through grade school. Then
things started to go crazy, before long he was in a wheelchair. Mikes
grandfather, my uncle was Mikes best friend. He would rent indoor swimming
pools and have all of the children in our family and adults to swimming
parties for Mike. Then everyone would take turns holding Mike on a big
floating raft and he was so happy. He whould also rent the local skating
rink once a year and have skating parties for him. Of course mike could not
skate but, he was out on that floor in a wagon being pulled by all of the
people he loved. On the weekend the two of them went for long walks and
played cards together by the hour. Mike loved all of these things so much.
His Grandfather worried what he would do when Mike would no longer be with
us. It made him take advantage of every day possible. About six months
before Mike 18th birthday his grandfather died after a short battle with
cancer. He was only in his early sixties. It was so unexpected. It was a
short time latter that God took our Mike away to. He was not afraid in the
end because he would say that his grandpa was there waiting for him. It is
very sad yet it makes own wonder. No one could have known it would turn out
this way. Mike lived a short but happy life and we are all better people to
have had this great kid who enjoyed the simple life in our lives.

Sorry to go on so long but I think of Mike and his grandfather everyday and
wonder just what they are up to right now. I know that they are together and
happy.

 Karen(PA)
=========================================================================
Date:         Thu, 29 Oct 1998 14:49:55 -0500
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
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From:         Richard Thornquist <rlthorn@EARTHLINK.NET>
Subject:      Miscellaneous
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Hello to all my friends,

Again, I will be typing a long message, because it has been awhile since
I have spoken.

First of all, let me start with welcoming all new families to the
listserv, you will find everyone to be helpful, friendly, and most of
all the most compassionate group of people in the world.  I started with
the listserv in January of this year, but have been lurking lately
because things have gotten truly hectic around here.  My son Andrew just
turned 2 years old in September, has had three cranial surgeries, two
hand surgeries, and one surgery on some ingrown toenails.  Andrew was
born with a very severe skull.  His first surgery was done when he was 3
months old (not the norm).  The pressure on his brain was incredible and
at 3 months old, was pretty much unresponsive.  He did not smile, looked
past you, and did not move much of his arms or legs.  After the surgery,
his progress was incredible (almost a miracle).  His hands are fairly
easy.  Two bilateral hand surgeries and he has four fingers and a
thumb.  Andrew's thumbs were not fused with the rest of his fingers
(type I hands).  He is a vibrant, active, little boy (I guess you could
call him a tornado.....we do).  He is always getting into everything.

Now onto other things.....

I want to apologize for not corresponding much, but I have been lurking
mostly.  Andrew is not attending playgroup two mornings a week, and he
absolutely loves it.  I think it is the best thing we have ever done for
him.  Then on two of the other mornings during the week, I watch my
niece for three hours.  So my mornings are pretty much taken, and then
in the afternoon is when I fit in all our appointments.  Andrew's
vocabulary has greatly improven, he now says about 20 words, and I
attribute it all to his playgroup.  The playgrou he is in is for
children in the EI program that have speech delays.

Speaking of the EI program, we have had to change because we now live in
a different catchment area.  But luckily, I have again found some
wonderful people to work with and to have work with Andrew.

Andrew's eartubes recently fell out, but he will have to have more put
in because he has had two ear infections in the past month and a half.
It also looks like we might have to have the ingrown toenails cut out
again, because some have grown back.  Dr. Upton has mentioned that this
may be an indication that his toes will have to be separated.  But we
will do extensive testing before that is done.

Some more news around here is that we are expecting our second child,
which will make Andrew a big brother.  I am going to be doing a 3-D
ultrasound at 20 weeks, and this doctor will be able to tell me what
disability, if any, this child may have.  Did any of you mothers have
more worries with the second child, because your first had Apert?  I'm
not just worried about Apert, that I think I could deal with, but it is
the other disabilities that worry me.  Also, what tests did you all have
when you were pregnant the second time around?

Well, I better get going and pick up my house a little bit before the OT
comes by.  Talk to you more later.

Lynn Thornquist
rlthorn@earthlink.net

p.s.  Just to let everyone know, I have noticed that my e-mails to the
listserv have my husbands name on it (Richard Thornquist) so if you see
that, you will know it is me.
=========================================================================
Date:         Thu, 29 Oct 1998 18:40:15 +0000
Reply-To:     Information exchange and Internet safe haven for Apert Syndrome
              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
Sender:       Information exchange and Internet safe haven for Apert Syndrome
              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
Comments:     Authenticated sender is <jgibson2@POP.erols.com>
From:         jgibson2@EROLS.COM
Subject:      Re: Concerns
In-Reply-To:  <dd78136e.3638a079@aol.com>
MIME-Version: 1.0
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>   Now, I noticed that three children from the Apert list serv has died this
> past year.  The question is "Is this common?"  "is my child at risk?"  I know
> I am being such a terrible ninny here and probably an insensitive one.  But I
> honestly don't know who else to ask.  What are the factors that endanger the
> children?  Is it too many surgeries?  I'd be grateful for any input from any
> of you.  I've sat on this for about two days until I had the guts to say
> something, so pls forgive me if I've offended anyone on this subject.

Belinda,
    I'm a NICU nurse, not a mom or dad of a child with Apert, so I'm
not the least offended by your question.  I have a feeling you've
expressed a fear that many here have, so you won't be offending them
either.  Some may be a little disturbed, but I do think they'll
understand your fears.

      I don't think you can call the surgeries "too many" since
most of them are essential to any semblance of normal functioning.
The truly elective procedures generally aren't the riskiest. Yes, the
surgeries put the kids at risk, but the most risky surgeries are to
correct life-threatening conditions, so there's really no choice at
all.

    Also, many of the children have VP shunts -- which have a
significant risk of infection, but again they're not optional.
Without the craniofacial surgeries, many of these kids would have
significant structural problems breathing -- again, no choice.  It
has to be scary every time  one of these beautiful children has to be
put under for a procedure -- I know I spend a lot of time praying for
them and the only one I've met off-line is Brooke Bell. My boys have
never had anything more serious than a tonsillectomy, so I don't know
how you all hold up sometimes, but where else can you discuss your
fears if not here.

Judy
Judy Gibson

jgibson2@erols.com
=========================================================================
Date:         Thu, 29 Oct 1998 18:42:14 EST
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
Sender:       Information exchange and Internet safe haven for Apert Syndrome
              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
From:         Marjorie Harmon <MHTeach102@AOL.COM>
Subject:      Re: Concerns
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Belinda,

Your concern is a valid one, in BJ's case however he died of something
unrelated to Aperts. BJ had a bad case of spinal menigitis and another unknown
infection that got into his central nervous system over a year ago...He
ultimately died of Liver failure due to all the antibiotics and painkillers
used to treat the infection.

Not sure if it makes you feel any better but that is how it went. Just wanted
to clear the air.

Marjorie
=========================================================================
Date:         Thu, 29 Oct 1998 22:26:35 EST
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
Sender:       Information exchange and Internet safe haven for Apert Syndrome
              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
From:         NephiRose@AOL.COM
Subject:      Re: Concerns
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Thank you Judy and Marjorie,

It helps to hear from a medical point of view and also from you Marjorie, I
really do appreciate it even though I know it must be hard sometimes.  It
really put some of my fears to rest.   A child dying  was just one of those
things that bothered me.  Sometimes I still sneak in Sarah's room and just
stand there watching her chest go up and down just to reassure me that she is
okay.  We all just have to appreciate each day as it comes, huh?

Goodnight, all.

Belinda Vicars
(Utah)
=========================================================================
Date:         Thu, 29 Oct 1998 22:51:41 -0800
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
Sender:       Information exchange and Internet safe haven for Apert Syndrome
              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
From:         Robin MacDonald <macdonal@GOLDEN.NET>
Subject:      BJ
MIME-Version: 1.0
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It is strange how you can feel that you know someone through this
computer, even though we just see messages and read information. It was
with great sadness that I read about BJ...but at the same time I know
that he is in good hands at this time. Time to celebrate his life and
all that he taught us.
=========================================================================
Date:         Thu, 29 Oct 1998 22:56:42 -0800
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
Sender:       Information exchange and Internet safe haven for Apert Syndrome
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From:         Robin MacDonald <macdonal@GOLDEN.NET>
Subject:      one day at a time
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Hope this doesn't sound too morbid...but I worked at a funeral home
while going to university and got a real close look and I think a good
appreciation of death while working there. What I discovered about that
experience is that many people don't stop and appreciate the people they
know and live with on a daily basis. Yes, we feel perhaps the most upset
when a child dies... but the same reaction can be felt when a
grandparent or parent dies. So...after seeing so much death ...my
advice,,,appreciate everybody you know and care about.
=========================================================================
Date:         Thu, 29 Oct 1998 20:58:21 -0800
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
Sender:       Information exchange and Internet safe haven for Apert Syndrome
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From:         Robyn Johnston <robyn@ORDATA.COM>
Subject:      Re: gene info
Mime-Version: 1.0
Content-Type: text/plain; charset="us-ascii"

Robin - check out the ped-base files on the web...
try <condata.com/health/pedbase/files/APERT.HTM>

It has been a while since I have checked out this site but it has
references to a few articles regarding the genetic info. of CF syndromes
 

The crouzons gene is usually FGFR2, chrom # 10q25-26
I believe the Aperts gene is usally the same gene

Robyn J
 

At 06:00 PM 10/28/98 -0800, you wrote:
>I know this has been mentioned before..but I can't find it. Could
>someone give me info about what gene is responsible for aperts..and or
>any articles which discuss this?  thanks so much
>
>
=========================================================================
Date:         Thu, 29 Oct 1998 20:58:18 -0800
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
Sender:       Information exchange and Internet safe haven for Apert Syndrome
              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
From:         Robyn Johnston <robyn@ORDATA.COM>
Subject:      Re: What next?
Mime-Version: 1.0
Content-Type: text/plain; charset="us-ascii"

Karen, if it were us, I would remove the tonsils and adenoids first.  THen
reassess the situation after.  Sorry to hear Billy's surgery was cancelled.
 Sounds like he needs some time to get well right now.  Take care of
everyone! Hugs, Robyn J.

At 08:31 PM 10/28/98 -0500, you wrote:
>I guess we are a no go again with the surgery on the 4th. I wrote last week
>about Billy's visit to the ent and the talk about adnoid removal and
>possibly a trache.Well on Friday his ears started to drain and by Sunday
>there was even some blood leaking out. I took him to his doctor and she said
>they were very badly infected. I don't know how they got so bad when on
>Monday the ent said they looked good. Anyway the doctor said this was all
>happening because of this cold and because of the fact that his nose is
>blocked so much that it was draining out of his ears.We decided to just
>forget all surgeries until after the holidays.The doctor agrees that Billy
>has been so sick for so long that he needs this time to heal before any more
>surgery.
>She said we will not even think of a trache until all else fails. We will
>try some other things first to see if this can be avoided. Tonight we are
>doing a sleep study at home to see just what is going on and hopefully this
>will help us.  We talked to the surgeon about how maybe we should think
>about mid-face being done instead of trache and he said no. He said not
>until Billy is 6 or 7 years old. Why would a trache be better than a
>mid-face? I understand that it would have to be done again but is a trache
>better? I am interested in any comments even negative ones. So, thats where
>things stand right now.
>
>Karen(PA)
>
>
=========================================================================
Date:         Thu, 29 Oct 1998 20:58:20 -0800
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
Sender:       Information exchange and Internet safe haven for Apert Syndrome
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From:         Robyn Johnston <robyn@ORDATA.COM>
Subject:      Re: A BJ update
Mime-Version: 1.0
Content-Type: text/plain; charset="us-ascii"

Dear Harmons,

I am also very saddened to hear of BJ's passing.  I know now that our
little trooper is finally at peace.  I know it must be very difficult for
you right now.  It has been such a difficult year.  I can't even imagine...
 He couldn't have had a better family.  Our hearts are with you and pray
that you have strength at this time.  BJ has always been a fighter.  He is
an inspriation to us all.

With sympathy, Robyn J.
 >BJ, we never stopped thinking about you.>
=========================================================================
Date:         Fri, 30 Oct 1998 20:30:36 -0500
Reply-To:     Information exchange and Internet safe haven for Apert Syndrome
              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
From:         Elizabeth de Silva <lizsilva@SRV1.TELCONET.NET>
Subject:      Re: A BJ update
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Dear Harmons,

I've been out for a long time and now that I am back I feel so sad to know that
BJ passed away.  What can I tell you?...  I think we all feel that our little
fighter  is finally in peace.  I can imagine it is very hard for you.  You have
been and will always be in our prays and in our hearts.

Elizabeth and Albita
 

>  >BJ, we never stopped thinking about you.>
=========================================================================
Date:         Fri, 30 Oct 1998 10:14:18 -0600
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
From:         "D. Jefferson" <djeff@MIDWEST.NET>
Subject:      Re: APERT Digest - 28 Oct 1998 to 29 Oct 1998 (#1998-78)
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Dear Marjorie:

Seth's recent battle with bacterial spinal meningitis gave me a real
appreciation for what you and your family have been through over the past
year.  I have never felt so helpless in my life.  To watch our child suffer
and have to trust that the doctors can find the right antibiotic to fight
the bacteria and hope that antibiotic doesn't do further damage to his
young body has been exhausting and frightening.  It made me realize clearly
how fragile life is and what a tentative hold we have on it.

I was deeply sadden by the news of BJ's death.  I, like everyone on the
listserve, had hoped for a different out come.  I wish I had the words to
comfort you.  There is nothing I can say that can touch your pain and I
know it.  All I can do is pray that in time God's grace will comfort you
and the wonderful memories you have of BJ will help to ease the pain of his
loss.

Peace, Dori

Dori A. Jefferson
djeff@midwest.net
=========================================================================
Date:         Sat, 31 Oct 1998 10:51:03 +1300
Reply-To:     Information exchange and Internet safe haven for Apert Syndrome
              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
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From:         Howard & Ann <howrdnan@IHUG.CO.NZ>
Subject:      Re: Concerns
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Hi Belinda and others

And thanks Marjorie for explaining your situation.

Belinda you have voiced a fear I have had since Amy was born - getting through that first op, then that first year was hard because of all the regular fears any new parent has with the risk of cot death.  Also I had numerous miscarriages so I had the "all the others have died, can I be sure Amy will survive?" questions running through my head.  And my mother's first daughter died at 3yrs from cerebral malaria, so with the insecurity caused by all the ops I also put myself through fear of loss during her around-3yrs time... etc, etc.

Howard, of course, just accepts what happens and avoids these stresses by not considering them!

I do believe that the loss of sleep during that first year (okay, it was three years in our case until Amy finally slept through the night!) contributes to our fears, then the trauma WE go through every time our children have operations creates more fear and insecurity.  And any operation involving general anaesthetic IS a risky time.  I don't believe we are paranoid, we just have a very normal concern for the wellbeing of our children, and it is healthy to look at that concern/fear, acknowledge it, and then try to put it into perspective. And if it helps to talk these fears through with a counsellor then it is important to do so rather than keep pushing them down - they will only force their way up again when the next op is impending, and that will interfere with how we cope and support our children.  Unresolved grief can also be tied into those fears, so it is not a simple issue.

Balancing all that is the fact that our children are VERY well monitored because of their history.

I know you won't like hearing this, but there has been another death recently in Australia - unexplained at this stage.

My understanding is that our children will live a "normal" lifespan.  It may not have been the case in the past, but our children have such wonderful surgical and medical support the prognosis is probably quite different now.  As with anything to do with our children, we need to remember that each child is different and though they have the three common features of Apert of bone fusion with head, hands and feet, some are more seriously affected than others and internal organs are affected as well.  And I know that if Amy had to have a syndrome I'm sure "glad" it is Apert!

Incidentally, on the issue of shunts, I don't recall that any of our NZ children with Apert have one.  I get the impression that a large number of US children with Apert have them.

Be kind to yourself.

Regards
Ann
NZ
=========================================================================
Date:         Fri, 30 Oct 1998 16:25:07 -0600
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
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From:         "D. Jefferson" <djeff@MIDWEST.NET>
Subject:      Re: Caroline Tingley Update
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Stephanie called and said that Caroline's surgery was over.  She went in to
surgery at 6:00 AM and was finished by 1:00.  She said that Caroline looks
good and is doing very well.  Stephanie sounded up and amazed at the change
in Caroline's appearance.

Please continue to keep their family in your prayers over the next few
days.  If I recall correctly, tomorrow is when the swelling will be at its
worst and exhaustion will be starting to take its toll.

Dori A. Jefferson
djeff@midwest.net
=========================================================================
Date:         Sat, 31 Oct 1998 11:42:03 +1100
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From:         Jarol <carolh@HOTKEY.NET.AU>
Subject:      Fw:      Miscellaneous
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Dear Lyn,

Congratulations on your pregnancy.  Well I have just had a new baby 1 week
ago and also had many concerns during the pregnancy but did alot of self
talk trying to tell myself that this will not happen twice even though you
always still have doubts.  I had a CVS similar to an amnio at 11 weeks which
checks for a few problems and when the test came back as all being normal I
didn't realize how worried I did feel till I knew all was OK what a relief I
felt alot was lifted of my shoulders.  Then I also had 3 different scans by
different people and had this checked from top to toe hands feet head shape
as much as they could possibly do and after I covered all of this I felt
that there really was no more that could possibly be done.

I did feel much better with all these tests and scans but last week when
that beautiful little boy popped out and I checked him all over and felt so
relieved I had a really good cry with happiness and relief.

It was all worth it.  I understand what you feel as I have just been there.

Good Luck
Carol
-----Original Message-----
From: Richard Thornquist <rlthorn@EARTHLINK.NET>
To: APERT@LISTSERV.AOL.COM <APERT@LISTSERV.AOL.COM>
Date: Friday, 30 October 1998 6:49
Subject: Miscellaneous
 

>Hello to all my friends,
>
>Again, I will be typing a long message, because it has been awhile since
>I have spoken.
>
>First of all, let me start with welcoming all new families to the
>listserv, you will find everyone to be helpful, friendly, and most of
>all the most compassionate group of people in the world.  I started with
>the listserv in January of this year, but have been lurking lately
>because things have gotten truly hectic around here.  My son Andrew just
>turned 2 years old in September, has had three cranial surgeries, two
>hand surgeries, and one surgery on some ingrown toenails.  Andrew was
>born with a very severe skull.  His first surgery was done when he was 3
>months old (not the norm).  The pressure on his brain was incredible and
>at 3 months old, was pretty much unresponsive.  He did not smile, looked
>past you, and did not move much of his arms or legs.  After the surgery,
>his progress was incredible (almost a miracle).  His hands are fairly
>easy.  Two bilateral hand surgeries and he has four fingers and a
>thumb.  Andrew's thumbs were not fused with the rest of his fingers
>(type I hands).  He is a vibrant, active, little boy (I guess you could
>call him a tornado.....we do).  He is always getting into everything.
>
>Now onto other things.....
>
>I want to apologize for not corresponding much, but I have been lurking
>mostly.  Andrew is not attending playgroup two mornings a week, and he
>absolutely loves it.  I think it is the best thing we have ever done for
>him.  Then on two of the other mornings during the week, I watch my
>niece for three hours.  So my mornings are pretty much taken, and then
>in the afternoon is when I fit in all our appointments.  Andrew's
>vocabulary has greatly improven, he now says about 20 words, and I
>attribute it all to his playgroup.  The playgrou he is in is for
>children in the EI program that have speech delays.
>
>Speaking of the EI program, we have had to change because we now live in
>a different catchment area.  But luckily, I have again found some
>wonderful people to work with and to have work with Andrew.
>
>Andrew's eartubes recently fell out, but he will have to have more put
>in because he has had two ear infections in the past month and a half.
>It also looks like we might have to have the ingrown toenails cut out
>again, because some have grown back.  Dr. Upton has mentioned that this
>may be an indication that his toes will have to be separated.  But we
>will do extensive testing before that is done.
>
>Some more news around here is that we are expecting our second child,
>which will make Andrew a big brother.  I am going to be doing a 3-D
>ultrasound at 20 weeks, and this doctor will be able to tell me what
>disability, if any, this child may have.  Did any of you mothers have
>more worries with the second child, because your first had Apert?  I'm
>not just worried about Apert, that I think I could deal with, but it is
>the other disabilities that worry me.  Also, what tests did you all have
>when you were pregnant the second time around?
>
>Well, I better get going and pick up my house a little bit before the OT
>comes by.  Talk to you more later.
>
>Lynn Thornquist
>rlthorn@earthlink.net
>
>p.s.  Just to let everyone know, I have noticed that my e-mails to the
>listserv have my husbands name on it (Richard Thornquist) so if you see
>that, you will know it is me.
=========================================================================
Date:         Fri, 30 Oct 1998 22:17:15 -0600
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
From:         Chad & Denise Graham <cgraham@INFOAVE.NET>
Subject:      GENES
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I thought since some of you have been asking questions about genes lately,
I would share this with you.  I have just recently heard from a doctor who
has been studying Daryl's genes thinking that he was a different variation.
If you have any questions feel free to ask!

                                        Denise Graham
 

-----------------------------------------------------------------------------
Dear Chad and Denise,
Sorry not to call but I have misplaced your phone number. As I mentioned
to you before, I recently began looking for a novel mutation in Daryl in
collaboration with Dr. Andrew Wilkie in England. Before looking throughout
many possibilities, we chose to look at the common Apert sites to make
sure that the mutation was not overlooked by the folks in Oregon that did
the initial analysis. Much to our surprise we found that Daryl has the
classsic 937C->G mutation in FGFR2 (amino acid change 253Pro->Arg) that
represents one of the two common Apert sites. So, it looks as though Daryl
has Apert syndrome even though his manifestations are somewhat different
that usual.

This analysis is done by PCR of his DNA followed by digestion of the DNA
with an enzyme (BstU1) that detects the mutation. This has not been
sequenced but the test is very specific. We could perform sequencing but I
do not think it is necessary. Let me know if you would like us to pursue
this (it could take several months to complete).

I have pasted Dr. Wilkie's note to me below. Please page me if you want to
talk about this. Alternatively, you can return this email with your phone
number and a good time to call.
I hope this is helpful information to you and your family.

Michael
------------------------------------------------------------------------

Dear Michael,

We have now tested the sample AS-07-DG. Rather to my surprise (and
disappointment), the patient appears to have a typical Apert mutation,
937C->G in FGFR2 (Pro253Arg), characterised by a diagnostic BstU1
restriction site.

Can I suggest that in the first instance, the original lab re-checks their
analysis? Obviously, if they are convinced of their finding we can look
again.

Best wishes,

Andrew
 

Andrew Wilkie
=========================================================================
Date:         Fri, 30 Oct 1998 23:43:17 -0800
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From:         Robyn Johnston <robyn@ORDATA.COM>
Subject:      Re: GENES
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Denise,

Thank you for the info, this is very interesting.  Is this from Dr. Michael
Cunningham?  He thinks Brenna has an unusual form of Crouzons as well.  We
may have her genes tested the next time we can get a good sample.

Robyn J.

>
=========================================================================
Date:         Sat, 31 Oct 1998 07:08:29 -0800
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              and other craniofacial anomalies <APERT@LISTSERV.AOL.COM>
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From:         Richard Tait <rjrtait@MARS.ARK.COM>
Subject:      BJ
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You never know how much a child can be loved until you have one.  You never
know how much you miss a child unless you lose one.
We lose children every day almost in the business that we are in as foster
parents.  It is not the same loss as a death, but it is a death in the fact
that we love these children and often never see or hear from them again.
I have never felt the lose as greatly as I have lately since Julia (our
aperts baby) came into our lives.  Each time I look at her, I feel the
greatest love, and each time I think of all the children we have lost this
year that are aperts, I feel some of the loss that they must feel.
Our children are unique, and they bring unique experiences and feelings.  I
miss the 3 we have lost this year, and I grieve with all the families.
BJ put up a tremendous battle, and I know that it was because of the love
and commitment his family gave him.
May God comfort all those families that lost their special children this
year, and may we not lose any more.
With all our love,
the Taits and gang here!
=========================================================================
Date:         Sat, 31 Oct 1998 15:43:56 EST
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From:         GSieb91515@AOL.COM
Subject:      Re: A BJ update
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Marjorie and family-

We are greatly saddened to hear that BJ has passed on.  He was such an
incredible fighter, but we know that he is in a greater place.  He was truly
an inspiration to all of us and we will never forget him or your family.  You
were always so strong during everything BJ went through this last year and a
wonderful role model to all of us.  We will continue to pray for you and your
family.  We are all so blessed by the children that God has given us and we
pray that he watch over all of them.

The Sieberts
Houston, TX
=========================================================================
Date:         Sat, 31 Oct 1998 16:07:13 -0600
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From:         Chad & Denise Graham <cgraham@INFOAVE.NET>
Subject:      genes
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Robyn,

        Yes, that was Dr. Michael Cunningham.  I am having the lab in
Oregon test again to see if their results were wrong.  I would like to know
who made the mistake.  I am pretty sure Oregon is, but I want proof.
 

                                Denise Graham
=========================================================================
Date:         Sat, 31 Oct 1998 22:44:17 -0600
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From:         Judy Amerman <jamerman@UTI.COM>
Subject:      secundum atrial septal defect
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With all that has been going on lately. I decided to review Nick's
evaluations from the hospital when he was born and tested for everything
under the sun.  I seen something there that has made me just a little
uneasy.

when the cardiologist seen Nick this is the echocardiograpic diagnosis that
was given.
Essentially normal echocardiogram with probable secundum atrial septal
defect, Small, present and tricuspid valve appears somewhat thickened with
a mild amount of tricusped regurgitaion detected.

The doctor told us at that time this happened frequently and said it would
more than likely clear itself up. He gave us no reason to really concern
ourselves.

I would like all the feedback that I can possibly get on this.  I am
calling Children's on Monday to get him scheduled for more tests.  Although
the dr. did not seem concerned,  after reviewing this after this period of
time, I am getting just a little nervous.  I just want to make sure
everthing is okay.

I got on the internet and was reading about this but I still do not totally
understand.

All of a sudden, I feel like a bad parent for not following up on this
sooner.

Has anyone else encountered this and can someone explain to me in simple
terms just what this diagnosis means?

I also have a copy of Dr. Grayhack's article on apert feet.  This is listed
on Teeter's page I think under resourses.  I got this when Nick seen him a
year ago and just found it.  If I can get his permission, I will send it
Don.  The more info we get the better.

One more thing.  for those of you who has been though the sleep apnea
thing. Did you have to do the nose irrigation and steroid spray, along with
Breathe Right patches.  We have been doing this for about the last month
and I really do not know if it is helping but all of a sudden Nick has been
talking in his sleep about every night. Several times a night.
We may wind up removing partial adenoids because the doc says that there is
a 75% blockage with a very deviated septum.  Any input on this issue would
be appreciated too.

Thanks in advance,

Judy