Please please call me.  My number is 7577685891.  My name is Valerie
McCandless and I live in Virginia but my oldest is from my first marriage and
has stickler's. His dad does too and I can help you through this with info.. :)
Talk soon and don't worry..you have outreach here!!!! :) Valerie


-----Original Message-----
From: Jennifer Katharina Worley-Oliver <jennifer.worley.oliver@...>
To: sticklersyndrome@yahoogroups.com
Sent: Fri, 3 Oct 2008 12:52 pm
Subject: [Stickler Syndrome ] Pediatric Stickler's






My name is Jennifer Oliver.
My Son, Ian is 10 months old.
We live in Huntsville, Alabama.

Ian's biological father and most of his siblings has some variant of
sticklers (that they guess), mainly the eye conditions.( THEY WILL
NOT GET GENETIC TESTING DONE< huge case of pride).

I have taken my son to now 5 eye specialists. He has been in his
first pair of glasses (-12) to start with, his full prescription is -
24 for the past 2 weeks.
I last week took my Son to the Callahan Eye foundation in Birmingham,
AL for testing (ultrasound and VER/ERG's) for his eyes.
He has been to several eye specialists about his eyes, and they are
all unable to get his eyes to refract. They also said that the nerves
in his eyes aren't right and that his eyes fundus is very very very
blonde.

Please find attached the results from the VER/ERG's and Ultrasounds
performed last week.
Since his biological father is out of the picture (my Son has been
adopted by my new husband)20I am having a very hard time getting
accurate information out of him or his family in regards to
Sticklers. The last I heard, none have actually been diagnosed but
they all have the detached retinas, facial issues, loss of cartilage
and the such.

Last Monday afternoon I contacted the Genetics office at the
University of Alabama in Birmingham, Alabama (UAB) and they wanted me
to come in immediately with my son.
Dr. Edward Lose was the genetics Dr that I saw, along with 3 med
students.
Dr. Lose went over all of the issues with Sticklers with me and got
my son's Biological Fathers medical history (his father is 1 of 7
children, 5 of them have some form of sticklers, mainly the eyes). He
explained to me about testing for the collagen strain that is a main
pointer for sticklers.
Dr. Lose sent me to Children's Hospital to go ahead and pull blood
for the Genetics testing.. they sent the blood to Tulane University..
they said it should take 2-4 weeks to get the results.

Dr. Lose also recommended that I set Ian up with an Appointment for a
complete hearing screening to at least have a baseline to go by for
when he gets older.

October 2 was the day of his hearing appointment. I am not happy
with the results. Since Ian was born he has suffered with ear
infections. It seems that he has another right now.

Dr. Murphree (the Audiologist) said that Ian has possible UHF hearing
loss in his left ear.
He did 4 tones, the first was perfect
, the other 3 did not get a good
return (left ear)

I am being referred back to our ENT to go ahead and do tubes in Ian's
ear and get rid of his ear infection. He is also referring us to the
Alabama Department of Rehabilitation Services.

I took Ian to his Doctor on October 2, she saw the fluid in his ears
and went ahead and gave him an RX for an antibiotic to clear up his
ear infection. I am waiting on his ENT to call me back (2 calls to
them, no return yet).

I called the Alabama Rehabilitation Program that the Audiologist
wants Ian to see, they are booked up until AFTER the new year.

I have been told by several doctors that I will need to get Ian
classified as disabled. I do not know how I feel about that.

From Everything that I have read about Sticklers, it seems that Ian
has almost all of the classical symptoms, Flat nasal bridge, Otitis
media, severe myopia, the Vitreous degeneration already occurred,
heart murmur, asthma/breathing problems, severe allergies and now
hearing issues.

We are still waiting on the Genetic results.

In your opinion/experience what should I do now?

Do you know of anyone in Alabama that I could speak to that has
experience in Stickler's (family, SIP not doctors)?

My son is 10 months old, I am a VERY proactive Mom. I hate this
waiting and wondering.







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