| Hi, My name is Aiden Hobbs and I was born with Apert
Syndrome. My mum and dad found out about the condition Apert
Syndrome when my mum was 18 weeks pregnant at a routine ultrasound.
The ultrasound showed that there was something different with my
hands and feet, so from this ultrasound the geneticist assumed it
was Apert Syndrome, and suggested a CVS and an amniocentesis. The
results had come back negative. My parents were told that, “your
baby does not have Apert syndrome” and that they would have to wait
till I was born to diagnose what the problem maybe. On the
18.04.2005 when I was born, I showed the characteristics of Apert
Syndrome; fused fingers, toes and fusion of the skull, but when a
blood test was taken from me, the results did not show the affected
Apert gene. A DNA sample was sent to England and they have now found
a change in the Apert gene, but it is a different change to where
they would normally find it. In my three years of life I have been
hospitalised about 7 times. My first stay in hospital was for an
infection in my fingers. The fusion of my fingers was quite severe;
the doctors called it a rose bud affect; where all my fingers
including my thumb were joined together resembling a rose bud. When
I was 1 month old, as my nails had been growing they were pushing
into my skin at the top of my fingers, like an ingrown nail-only
five fingers in one. So from this, I had got an infection in both my
hands and had to be admitted to hospital and given IV antibiotics.
The infection cleared up, but then 5 weeks later the same thing
happened and I was admitted again. My paediatrician was concerned as
he thought that the infection had not completely cleared up the
first time and that this infection could have spread to the bones in
my fingers – which is not good, as this can lead to amputation!!
After a second course of antibiotics, a bone scan was done to check
if the infection had spread – thankfully it hadn’t. I was then put
on the urgent list at 12 weeks old to have my fingers operated on,
to get rid of the ingrown nails and to separate my fingers. In this
operation I had both my index fingers removed. I now have 3 fingers
and a thumb on each hand, and have had 3 operations on my hands. I
have also had bronchiolitis twice, which I had to be hospitalised
for due to breathing difficulties. And I have had an operation to
expand the back of my skull. I also have sleep apnoea, that has gone
from mild (at 8 months old) to severe (at 18 months old) back to
mild again (at 2 and a half years old). Sounds crazy, I know, even
my sleep doctor said that he had to triple check my sleep study
results!!!
I have just turned 3. I attend pre-school two days a week and I
do swimming lessons once a week, both I really enjoy. I also have a
sister who has just turned 1 and she loves to keep me on my toes and
annoy me, like all sisters do! I also love counting numbers, saying
the alphabet, riding my trike, watching the Wiggles and Sesame
Street, and last but not least, I adore my dog ‘Scully’.
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