Well, I'm sure you realise that I am a new member to this group - as
obviously you wouldn't have come across my name before.

I am a mother of a 19 month old boy who has suspected Weaver Syndrome.
However if he has it, is a fairly mild presentation so doesn't
display all characteristics as strongly as others might. Blood
samples from my son and husband were sent to the UK (to a research
group previously researching Sotos) last January, but we have not yet
received results back. However these tests may not prove anything either.

Our family consists of myself (Keira), my husband (John), son (Oliver)
and 6 week old daughter (Niamh - who so far seems perfect). We also
had a daughter, Stella, 3 years ago but she was saddly still born.
Doctors say the situations are totally unrelated and just bad luck.

I am from Sydney, Australia, but have lived in Adelaide for the past 5
1/2 years - where we may or may not end up permanently residing. I am
currently on maternity leave from my job as a law librarian for a
large Australian law firm.

Although the care we have so far received from from the Women's and
Children's Hospital in Adelaide has been brilliant - and we are most
fortunate that doctors there have been able to come to a tentative
diagnosis of Weavers, I have so many questions especially relating to
longer term prospects of my son. The internet has been most helpful
in leading me to a great deal of information on the condition
(especially as so rare is is difficult to find anything on it even in
university medical libraries) and fortunately has led me to this
support group.

The characteristics / medical conditions that my son exhibits are as
follows:

* Immature lungs / Hyaline Membrane Disease at birth (even though born
at 37 1/2 weeks usually only seen in very premature babies)
* Abstructive and central aponea requiring Bi-Pap and supplementary
oxygen (mostly resolved now)
* Club feet (Bilateral talipes equinovarus)being corrected with
physiotherapy and minor achillies surgery
* Advanced bone age (at 7 months a skeletal survey showed his bone age
to be 15 months
* Height/length around the 97 percentile for age
* Macrocrania, in particular with large forehead / frontal bossing
which seems to becoming more pronounced (or are we just noticing it more?)
* Hight palate
* Blue sclera
* Hair growth pattern - hair begins to grow high up on his head and
above his ears, accentuting his large forehead
* Grade 2 urinary tract reflux (seems to have grown out of this, no
more urinary tract infections since stopping antibiotics)
* Developmentally delayed - not walking at 19 months (but cruising
furniture and will walk about 8 steps supported before dropping to his
knees), language development of about 12 months, fine motor about
12-14 months. He seems to like doing things in his own way - he could
roll from his back to front before front to back, commando crawled for
many months only just started confidently knee crawling about 8-12
weeks ago. Currently seeing a joint team of a physiotherapist,
occupational therapist and speech therapist once a month.

I'm not sure where his social development is at, but he is a very good
natured and happy little boy who can be very cuddly. He does seemed
to at times become overwhelmed with what is happening around him,
particularly when tired, at the end of the day, and probably more so
with the changes in the house with a new baby and not being able to
communicate how he feels. At times I am scared that he occasionally
displays behaviour similar to a mild version of an Autism Spectrum
Disorder - but his just might be frustration at not being able to
communicate.

I'm keen to know your stories, to find out about other people's
experiences and how they/their children are developing and what they
are achieving and any complications we might experience that we should
be alert to.

I would like to read the archives of previously posted messages, but
can't seem to access them at the moment, I get a server error message
from yahoo!

I look forward to receiving any replies either via the group or
directly to my home e-mail (keirajames@...) and am
particularly interested in finding out if there are any other people
in Australia who have been diagnosed with Weaver Syndrome.

Best regards,

Keira James

(apologies for spelling errors - I rely too much on spell checkers and
can't be bothered checking the spelling of medical terms!)