--- In WSSA@yahoogroups.com, "ddauvenshine" <ddauvenshine@...> wrote:
>
> --- In WSSA@yahoogroups.com, "titycs16" <tity@> wrote:
> >
> >
> >
> > I am Csilla from Hungary, my son, Lőrinc (2 years old) has Weaver
> > syndrome, which had been diagnostised one year ago. Unfortunately we
> > do not know a lot about his disease, although it would be very
> > useful to know, what can we expect by schoolage and adulthood.
> >
> > Lőrinc's weight was 5.15 kg (11.3 lbs) and he was 62 cm (24.4 inch)
> > when he was born. He is 2 years old now 20 kg (44 lbs) and 105 cm
> > (41.3 inch). Organic disorder has not broken out yet, we regularly
> > carry him to onkological and cardiological examinations.
> >
> > He has developmental delay in his moving, but - thanks to developing
> > activities –he started to walk by age 15-16 months. He is walking
> > well by now, but he is clubfooted and it still causes a bad sense of
> > balance, his knees are trembling a little during walking.
> > He is also slightly delayed mentally. I can tell, that till his 10th
> > month he was compeletely passive. Then we begin special exercises of
> > developing nervous system, which helped a lot to begin his moving
> > and intellectually, too.
> > He understands superbly our speech, but tells only two words in our
> > language and four-five in his own language. His attention was very
> > low at the beginning, but - thanks to the developmental training -
> > he is improving a lot. He got more cooperative and his interest is
> > more engaged by a few toy.
> > He is very nice and devoted child, he loves to be in company,
> > especially with children. He is not house-trained yet.
> > I upload some photos of him.
> >
> > I have a lot of questions, if I could talk to someone, who knows the
> > features of this syndrome and could tell me for which signs I have
> > to pay attention.
> >
> > I have just read somewhere on this page, that somebody knows the
> > mail-box of Dr. Weaver. May I write to him? Where he is living? Is
> > it worth to travel to him for an examination from the other side of
> > the world?
> >
> > What is interest me a lot:
> >
> > - For what can we prepare in mental respect, what kind of
> > (special) school we should enrol him later? How high intelligence
> > can be expected?
> > - Which are the fields, where he can be more talented ( now he
> > loves music, moving on it well, everything is interests him what is
> > making sounds) and what are the fields, which will be more difficult
> > for him?
> > - What are the illnesses, which they having more often, what
> > kind of examination they need regularly?
> > - What kind of developments do you advice?
> > (speech ,independence and question of being house-trained is actual
> > momently)
> > - Later we would like him to do sports. In what kind of sports
> > he can be talented? (Where is not a big problem that his moving a
> > bit clumsy, but his large strenght and figure can be an advantage.)
> > Which is what you were trying and worked well?
> > - Is there any kind of registration or database exist, where I
> > can check if there any other child in Hungary or nearby who has
> > Weaver syndrome?
> >
> > Now I am int he 12th week of my second pregnancy, we expect our
> > second baby in January. Altough as I know this is a sporadical
> > hereditary syndrome, after all I am worrying a little.
> > Do you also know so, can't repeat itself in one family, don't you?
> >
> > Thanks for you kind answers, best regards,
> >
> > Csilla.
> >
> Hello My name is Danielle (Georgia USA) My son Shane has weaver's and
> he is 5 years old. I would be glad to answer any questions that I can
> to help you out. We learned Shane had Weavers when he was 14 months
> old. Some of the test we hve to have done are for nueroblastomas
> (tumors in the stomach) some children have developed them so until
> they determine if it is the disorder causes them or not Dr. Weavwer
> told me he would rather be safe than sorry. As for sports we play
> Baseball and what we call football (no soccer) he loves both. But I
> would check with the league before you enter him. I have to be as
> assistant coach so I am on the field. But Shane is also has Autism
> and Asthma. He has a lower IQ (tested at 78) but we are not sure what
> for sure caused it. He has alot of other things going on with him. I
> was suggest speech therapy if you can get it for him. Shane had to
> learn sign language to learn to speech. he understood what was said
> but didn't know how to respond to it. I have been to see Dr. Weaver,
> we went about 2 years ago and I learned alot. He is very good about
> answering questions. Well if there is anything else just let me know
> and I will try to answer. Good Luck and God Bless Danielle Auvenshine
>


Csilla,
I have an eight year daughter with Weaver Syndrome. She was born five
and half weeks premature with a weight of 7lbs 3oz and 21 inches long.
We were not aware of her problems until age two. She reached all the
milestone except for speech. We were told by her doctor she was just
going to talk later and her balance issues were related to her size.
When we changed doctors at age two, she was immediately evaluated and
began in speech therapy, occupational therapy, and physical therapy.
She wasn't diagnosed until almost three with Weavers syndrome. We
confirmed that diagnosis with Dr. Weaver by traveling about 5 hours to
see him in Indianapolis, Indiana, USA. He is in the genetics
department and Indiana University. He confirmed the diagnosis and
gave us what little information he had at that time, which wasn't
much. Our daughter would continue to grow at a very rapid rate and
have developmental problems both mentally and physically. We pushed
Abby very hard with constant therapy and programs for early
intervention. She would get frustrated at an young age because she
had only 3 words at the age of two. We started teaching her sign
language along with her speech therapy, she had about 35 signs in just
3 months. This decreased the frustration and she was able to convey
to us her wants. Abby also has sensory issues which is very common
with children with Weaver, according to Dr. Weaver. She would not
jump or swing or go down a slide, and hated elevators. Some noises
would bother her as well. We worked really hard in occupational
therapy and physical therapy with this. They would bounce her on top
of large balls and swing her in a sheet. Within one year she was
swinging and sliding. It took longer for the jumping. At about age
four and half she started jumping. She is now doing great. We
continued therapy in school, and modified it to help her in areas of
school. Abby tests at a low normal range for her age. She is in the
regular class half of the time and in resource room the rest. We were
able to no longer have an aide with her in school in the second grade.
She can read between a first and second grade level now, and is doing
well in all areas. She plays basketball, but still has trouble
keeping up with the kids running because of her coordination
difficulties, but she loves it anyway. She is going to try volleyball
this year. She loves art. She is very talented in drawing and
painting, so we take her to art lessons, and she has even started
selling her paintings. We saw Dr. Weaver in December 2006 in
Indianapolis. He was very impressed with how well Abby was doing.
There is no explanation as to why Abby is doing so well and other
children may not. I know that we have tried to support Abby is every
way possible by not letting her give up or make excuses for her. We
take things as they come and continue to not give up.

As far as testing goes...we went every three months for abdominal
ultrasounds, to check for tumors, until she was six. Then every six
months until now. Dr. Weaver said to continue that until she stops
growing. We also did a bone age study at the age of four to see how
fast her bones were growing. We are going to repeat that this year at
age nine. She has a scoliosis test done every year. Dr. Weaver also
requested some blood work done for a study when Abby was three and
also this past visit. They were hoping to find the gene for Weaver
syndrome, but haven't had any luck yet. Dr. Weaver is wanting to make
a data booklet this year to inform more families of what others have
experienced. He has had trouble with families and doctors not staying
in touch with him to give him information about what they are going
through. We send him all the information about Abby that we get from
other doctors and tests.

Dr. Weaver cannot tell us how tall Abby will be, but she is currently
5 feet 5 inches and weighs 116 lbs and is going to be nine is
September. Dr. Weaver cannot give us an exact height that she will
reach, but says she will stop growing during puberty and then grow
again after puberty. She also wears a size 13 in men's shoes, larger
than her father. This has caused problems in finding her shoes.

I was also worried about my second child having Weaver syndrome. Dr.
Weaver assured me there was less than a 10 percent chance that would
happen, but we got a second ultrasound at 30 weeks to check growth of
the fetus. This was normal. Dr. Weaver said Abby has a 50 percent
risk, if not greater, of having a child with Weaver if they do not
find the gene before then. I am currently 27 weeks pregnant and am
going to ask for another ultrasound at 30 weeks to check the growth of
this baby.

I think that I have hopefully answered some of your questions, but if
you have anymore please feel free to email me anytime.

Dr. Weavers email is: dweaver@...
It may take him a short time to answer you, but he will email you back.

Let me know how you are doing.
Greta Holmes
Kentucky, USA