Hi Everyone, My name is Marianne and I'm 37 yrs old with Sticklers and
Pierre Robin Syndromes, I also have a 16 yr old son Mike who also have
both Sticklers and Pierre Robin. I was born with a cleft palate and
later found to have a hearing loss, things went well for me until the
past 10 yrs or so when the bone problems started. In the past 3 yrs I've
had both hips andboth knees replaced and just before christmas last yr I
had to have the lower part of my spine fused, I'm slowly getting back on
my feet. Mike has had a bit more of a rough time with things, he was
also born with the cleft palate and the hearing loss, he was involved in
early intervention programs as a young child, he's now in Yr 11 and
doing really well. He has had to have his right leg lengthened and
screws put in both ankles to stop the growth plates from working over
time, we're currently keeping a very close eye on his ankles as it seems
the problem with his ankles is coming back. In 2006 Mike had a major
operation on his back for Scoliosiskyphosis where the doctors put 2
titanium rods down his back with a few screws and wores to hold
everything in place. He plays sports with school and tries to do what
the other kids are doing but knows he has to modify thing slightly
sometimes.

As a parent I find it so hard watching Mike go through the operations he
has knowing that in some ways I'm the cause of it because it comes from
my side of the family, I know it's the wrong thing to think but
sometimes my mind likes to do things on it's own ... lol.

Unlike alot of people in this group I'm from Australia, Mike is a
patient at the Royal Children's Hospital in Melbourne where we both see
a Dr Ravi Savarirayan who has a special intrest in Sticklers. It would
be great to talk to other parents of teenagers but it seems most parents
on here have younger children. If any familes wish to know what might
be instore for them as their children get older I'm more than happy to
talk to them.




--- In sticklersyndrome@yahoogroups.com, Emma Twyman <emmatwyman@...>
wrote:
>
> 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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