--- In sticklersyndrome@yahoogroups.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