Jennifer,

Its great to have gone there and meet other sticklers people. It must have been
very imformative at best.
I have to say your son sounds alot like mine. My samuel is 3 yrs old and both
him and his dad have sticklers. Hes got low frequency hearing loss although some
tests say hes normal. Hes had joint popping since birth. No doctors really
believe us cause its really not a detailed sticklers symptom.  He also has
speech delays which nobody can tell us where that came from. Hes currently in
speech therapy.  .  His eyes were -4 but now at +1.5. They go back and forth. He
has depth perception issues now and uses a cane to help from falling.  Hope we
can keep in touch

I have facebook also..
Jacqui Elouarga lets add eachother

take care Jacqui 






________________________________
From: Jennifer Oliver <jennifer.worley.oliver@...>
To: sticklersyndrome@yahoogroups.com
Sent: Monday, July 20, 2009 4:35:37 PM
Subject: Re: [Stickler Syndrome ] Re: blake

 
I just got back from the Sticklers Conference in Los Angeles.
It was amazing to meet people and young children that have the same thing as
my son.
Its amazing how "alike" the children looked even though not kin.
I highly reccomend any suspect of Sticklers to get the genetic testing done,
sure way to find out.
Ian has the hearing (though not the high freq loss like other sticklers, mid
range speech level, causing speech delay).
Severe near sightedness, -18 glasses, joints that pop, asthma, allergies,
anemia, lactose intolerant, and now some funky rash thats covering his
entire body.
Join facebook and look me up, I have ALOT of Sticklers People as my friends,
letme know when you add me and I will direct you to them.
I also have myspace (jenniferkcolvin) that has a blog thats followed me and
Ian on his journey.
I love and adore my 20 month old "Stickey" baby.

Keep yalls chin up!
Jennifer

On Mon, Jul 20, 2009 at 1:59 PM, jester13_us <jester13_us@ yahoo.com> wrote:

>
>
> --- In sticklersyndrome@ yahoogroups. com<sticklersyndrome% 40yahoogroups.
com>,
> "calientecrystal" <calientecrystal@ ...> wrote:
> < Hi my name is crystal, I have a three month old with PRSincluding a soft
> palate cleft and Marshall syndrome with an overlapping of stickler 2,>
>
> Hi Crystal,my name is Jess and I'm also new to the group. Stickler syndrome
> and Marshall syndrome are extremely a like. Some doctors even think they
> they might be the same disease,making it another "type" of Stickler's. There
> are connective tissue diseases that are very similar,if you don't have one
> of the rarer "types" of that specific disease. I was originally diagnosed
> with another extremely close cousin of Sticklers,called Ehlers-Danlos
> syndrome. It was only until I did a ton of medical tests,that my geneticist
> felt more comfortable calling it Sticklers. However,I do have some
> stereotypical Stickler problems,and some stereotypical Ehlers-Danlos
> problems. Specific medical tests haven't really caught up to connective
> tissue diseases yet. After all my tests and scans my doctor is more
> comfortable with leaning towards sticklers,but he said if I saw a less "up
> to date" Dr.,I could have been easily diagnosed with Ehlers-Danlos syndrome.
> Information on connective tissue diseases is changing on an extremely rapid
> scale,so the majority of doctors world wide,are mis-informed or not up to
> date. Here are some ideas that I think might help you. 1.If possible,go to a
> major "teaching" hospital,they are more likely to have the most up to date
> information and techniques. 2.Most people go to a rheumatologist to get
> treatment,if you can,find a well respected geneticist who teaches it, at a
> hospital or school,or someone who publishes studies on related matters,they
> are more likely to know the more detailed obscure symptoms of an individual
> disease,as well as new facts coming out. 3.Some surgeries that are
> considered common or "no brainers" in most people,can often cause more
> complications than the original problem,in people with connective tissue
> diseases. For example,I tore my ACL,before I got my diagnoses. I ended up
> getting 3 typical knee surgeries that people without CTD's would normally
> get. My doctor now explains to me that I shouldn't have gotten it fixed,and
> I now have a lot more problems than what I would have,if I just left it
> alone. So,always dig up as much info with anyone with any knowledge of the
> disease,before any major steps in care. My doctors name is Dr. Howard Levy
> he's at Johns Hopkins hospital in Maryland,here in the U.S. His phone # is
> 1-410-583-2774, you will have to press a number to call his specific office.
> Have all you're sons info(tests,symptoms ,etc) right in front of you,so if he
> asks you details, you know them. You might not be able to see him,but if you
> ask him specifically, about the Overlap of Stickler's and Marshall's,I' m
> sure he could at least add something. He is extremely smart and he also
> teaches medicine.
> Sorry for the long e-mail,I just wanted to help. Contact me anytime. Keep
> us updated on your son.
> -jess in jersey
>
>
>

--
Jennifer Oliver

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