I have my own personal story. I do not have Sticklers but my husband does. When
I was pregnant, I didnt know what I was in for. I told my doctor that there was
a history of SS in the family. I was sent to prenatal genetics/ultrasound. From
about 4 months to his birth, I was seen and monitored by ultrasound. I was
counseled by genetics on what the chance of the baby developing SS. 50/50% was
the starting point. After a couple months of incredible 3D ultrasounds, we were
told the likiness of him having SS was pretty high since his facial features
were pretty typical of SS. They thought he might have cleft palete. They cant
determine that by ultrasound. His bottom chin/lips were sunken in pretty far.
So we worried about that. I do tell you the best part was having so many
ultrasounds.I have over 100 ultrasound pictures of him. I got to peek inside
to my baby long before he was born. It was the most priceless thing to see his
habits in the womb. The way he moved. The
prenatal genetics was great to me but made me worry for nothing alot.
June 8, 06 Samuel was born. Nobody said anything about his eyes or the
strain on them. I did have a c-section because my labor didnt start and I
couldnt be induced because of prior c section. Samuel was born normal looking
contrary to what people were saying. He DIDNT have cleft palete or lip. He was
born with Respitory Distress Syndrome because he was a couple weeks early. That
doesnt have anything to do with SS.
Samuel spent a week in the NICU. While he was there, he was tested 2 times
for the newborn hearing screening. He failed both times. They sent us over to
Audiology at childrens for further testing. He has sensorineural hearing loss.
Which means its permanent and will never get better. He can hear some things.
Just not low tones. Samuel also has joint problems. His joints are always
popping and locking up.
Samuel is 7 months old now and is beautiful. People stop me daily to tell
me how cute he is. Nobody cares about his face missing a nasal bridge. The key
is constant monitoring. I have his bones checked, his eyes and ears. I keep the
doctors on their toes. We made sure we have a solid foundation or starting
point so we know if something has changed or not. That does help us alot. We
know if his ears or eyes gets worse in a small amount of time. With SS, time is
important.
I would do it over in a heartbeat just to have him. Hes amazing and I know
he does have pain alot. His battle with SS has just begun. Hes a strong baby and
has overcome many obsticles already.
Having a baby with SS just means more therapy and doctors appts. Hes
worth it though. I wish you all the luck.

Best wishes
Jacqui



verity_1969 <Barichmond@...> wrote:
Hi

I am interested in hearing people's experiences re child birth.

I am considering having children but have drawn the following
conclusions: there is a 50:50 chance of passing stickler on to my
children; that pre natal testing to ascertain whether a baby would
be born with stickler is not going to happen due to lack of
resources in the UK/complex nature of finding the faulty gene (which
has a knock on effect re IVF; that a c section would have to be te
only option due to strain on the retina during child birth. I have
also recently wondered whether the carrying of a child during
pregnancy can cause retinal problems too due to the weight and
strain ( I read about one woman who seems to have expereineced this
but don't know if it's a common problem).

Has anyone any thoughts on this or can tell me of their own
experiences (positive or negative) as I am trying to build a
complete picture before making a choice as I have also thought very
much about adoption.

A bit of my background info:
I am 37, was diagnosed with stickler at 17 (seem to be the only one
in my family, but who knows?)and have had several ops on my retinas-
both eyes- with the loss of all sight to one eye when aged 23, and
have a cataract on right eye but vision generally ok but myopic.
More recently I am having hearing problems in left ear.

Would like to hear from anyone in similar situation

Bev
Yorkshire, UK










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