Hi Everyone, its so good to hear from some new people, My name is Emma and I
am 35 yrs old and I have Sticklers, along with my sister who is 30, her daughter
who is now nearly 8 months old and my father. Most of us know what to look for
physically, i wanted to offer my help/ear emotionally. Many of you have younger
children who have Stickers and they are getting used to it and may have worries
or question, I can remember how I felt (way back then) the good and the bad.
So if you want to email me and chat I am slways here for anyone.,

Best wishes and god bless
Emmy

Lori Taylor <daveloritaylor@...> wrote:
I have stayed on this list for quite some time but haven't interacted
much. It's info I seek. We are in the process of adopting our daughter who has
been diagnosed with Sticklers. It took 4 rounds of genetic testing to finally
get a diagnosis. When she first came to us at age 10 she could not hear, see or
talk. We were also told she was severely mentally retarded. She came from an
environment in the bio home where she experienced and witnessed mental,
physical, and sexual abuse . . . even ritualistic. She was also grossly
neglected and malnourished. She had so much going on the doctors kept telling me
not to be concerned about about a diagnosis. You treat the symptoms, not the
disease. I just couldn't accept that. I'm more of a pro-active Mom. I wanted to
know what we were facing and how to prepare for it in advance. I finally made
the diagnosis myself through Internet research. It was the cooperation of her
ophthalmologist that helped me convince the geneticists
to even do
the 4th genetic test, he was extremely reluctant. I am convinced it is because
we are stuck with medicaid and not real-paying insurance. Doctors just don't
want to invest the time. The first step after I educated myself about Stickers
was to see our Ophthalmologist. She looked it up in her Pediatric Ophthalmology
book. It even had a picture of a little girl. We were astounded. Just as in
Downs Syndrome there are facial characteristics that can be common. The little
girl in the picture looked like she could easily be our daughter's sister. It
took our Op writing a letter to the geneticists advising the diagnosis is likely
and important. Bingo! It was positive. You are right in saying it's difficult to
get a diagnosis and it shouldn't be. She had most of the common signs and all
the facial characteristics . . . yet not even the geneticists picked up on it?
The geneticists was correct in the fact that it hasn't changed how we treat her
symptoms. It has greatly changed her IEP
at school. We know there is the possibility of retinal detachment so she has
modified gym, no big bouncy balls flying her way. She doesn't have heart or
joint problems but we have annual checkups with a cardiologist and orthopedic
doctor to keep an eye on things. She has multiple cataracts and floaters so we
closely watch for any changes in her vision. We now know what we're dealing with
and which makes all the difference in the world. She is a freshman in high
school, 16 years old. She's even mainstreamed in a few classes. She's reading at
a 4th grade level and doing grade level math. She is developmentally delayed.
She didn't really begin developing till 10 years old. Added on top of that all
the trauma she experienced has made things more challenging. In addition to
Stickers we've been told she has some type (unspecified) of cognitive and/or
processing disabilities. The older she gets the less I believe that. It's just
going to take many years and lots of therapy to
help her 'catch up' developmentally. We do accept there are some things she will
always have difficulty with because of her late start in life. She will always
have difficulty talking but is getting quite proficient in sign language. I do
believe the docs when they say if a child doesn't master certain milestones by a
certain age they never will. I've also studied feral children and see some
similar situations because of her neglect. Will she ever be independent? I don't
yet know for sure but am still hopeful. It's certainly not because of the
Stickers but because of the processing and cognitive part and how they play in
helping her make decisions. We are in the process of getting her evaluated for
an assistance dog. With her vision, hearing, and socioeconomic past she has huge
fears in being alone in public. It's another step in trying to give her
self-confidence and independence. She has gone through 2 surgeries for facial
reconstruction and needs 1 more this summer.
She has had no other operations. We have been incredibly blessed to have her as
part of our family. She is becoming a beautiful young woman.

Just 2 weeks ago we finalized the adoption of our newest member. He was born at
27 weeks gestation weighing 1 lb 4 oz exposed to crack cocaine. At 1 week old he
had a grade 3 brain hemorrhage and fell under 1 lb. He's now a smart,
inquisitive, super-hyper 3 year old . . . but that's another story.

I hear stories such as yours with adult Sticklers kids and it renews my hope and
realization that she is still a work-in-progress and not finished yet. Looking
at it that way I can say the same for myself!!! : )

Lori


abintra2004@... wrote:

Amen sister! I am or was, until 4 kids ago, an LPN in L&D and I don't think
there's enough awareness of this!!! You notice when you take your kids to the
doctor's they have to LOOK it up in their book? There needs to be more awareness
and my son is 15 and showed symptoms when he was 10 and his dad did, at the same
time(my ex husband).? My ex didn't know his paternal father, and as a result, we
didn't know this was coming ..or we could have maybe prevented it with our son,
brennon.? Sorry for the spelling and capitals of names..LOL. I'm so tired..we
have 5 kids and I remarried when Brennon was 2, so they aren't at any risk..it's
not their dad. :) I put Brennon on the news, twice, here in Virginia, with the
hopes that we'd find other families or teenagers with it, for an outreach, but
nothing..no calls or responses at all. :(?? Let me know how I can help and I am
here!! Nice to meet you and god bless, Valerie

-----Original Message-----
From: rn1951djc <rn1951djc@...>
To: sticklersyndrome@yahoogroups.com
Sent: Sun, 10 Feb 2008 10:15 pm
Subject: [Stickler Syndrome ] My experience with Sticklersyndrome

I have two children who were born with cleft palate and we found

out much later that it was due to Sticklers. In 2000 my youngest

daughter had genetic testing that proved that Sticklers was what

caused the cleft palate and she had son who has Pierre Robin syndrome

who also had cleft palate. When my daughter was 2 months old the

doctors told me she was deaf and they also thought that she was

blind. She had surgery when she was 10 months old that was able to

restor her hearing and she has worn glasses from the time she was 6

months old. My second child that had it is her brother who is 18

months older he is now legally blind when he was younger he had lazy

eye and no one noticed it or diagnosid it and when it was finally

noticed it was too late to do anything. Then when he was 20 his

retina detached in his good eye and he had 2 surgeries to try to

reattach it but it did not work. So now he is legally blind. They

both are double jointed both have vision problems. My daughter is now

31 and my son is 32. My grandson is 8 and he has had tubes in his

ears 2 times now and is currently undergoing speech therapy to help

with his speech. He has only had one surgery. My daughter (his mom)

had to have 4 surgeries. I would like to be able to encourage

parents who are feeling over whelmed.

Thank-you. I am a RN and have a interest in helping others who

are dealing with these types of problems.

Debra

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