[ Post a Response | 22q Deletion Interest Board ]
Posted by juliana dryden
on 8/16/2008, 9:39 am, in reply to "22q11.2 450KB microdeletion"
81.155.155.100
Hi
I am from the Uk there is an international organisation call UNIQUE for rare chromosome abnormalities. If you register with them they will send you information of people close to you all very confidential there webadress:www.rarechromo.org in the UK there is an orgainsation called www.maxappeal.co.uk that was set up by the parents of Max who died as a baby they have lot of information and links to other websites in USA.
My son is 2and a half he was lucky to be diagnosed a week afte birth while still in the neonatal ICCU he was born prematurely. Joshua have the following conditions: Tetrology of Fallot (corrected in May 2007); hypocalcemia; hypothyroidism; immunodeficiency; submoucous cleft palate; hearin loss; speech and developmental delays; he is socially immature and very inapropiate; he has feeding difficulties and is only eating solids now; he was diagnosed with a hemivertebra and could not sit at one year ol, although he started walking at at 16 months. He is walking strong and running though seems to fall very clumsy. He is being refer to the physio because they think it is due to balacing coordination which is brain related. Although there does not seems to be anything wrong with his eyes (except for a left lazy eye) I pushed for a referral to a eye specialist. I don not know if you experience the same problems that I do. I there is not physcial anything wrong or if it is mild the medical people is not very interested in the other social and developmental probelms.Joshua still wakes up anything between 4-14 times a night. Nobody seems to care although there is lot of the mothers that complain about the same thing. There has to be some connection. Joshua can only sy MOM at the moment but he has started to make lots of sounds. I recently joined a local parents support group for children with special needs and disabled children. It was the best thing I ever did. They told me when I joined that you have to become a very pushy parents with the medical staff, I've experience that. From what Ihave heard this is the second most biggest congenital abnormality after down syndrome but still the public and medical staff is ignorant about it and you have to tel them what it is. There is another hospital in Philadelhia wher you get lots of online information if you put CHOP into search you will find ther website. Once you are on it you just have to do a lookup for chromesome 22 deletion and you find everything you want to know about it. Joshu is constipated too, have abloated tummy and has frequentlu vomiting speels that can be started of with and infection or when he is very upset. This cav least for 3weeks to a month and will subside graduately untill it will be set off by someting again. I have a seven year old daughter who is very hyperactive and has behavioural difficulties so i had quite a ride. I hope I can hear from you soon. I would love to see a picture of your daughter. Oh, I am following a boy in USA progress on the inter called Caden. The webadress is www.hoei.com/caden/blog
Hope to hear from you soon.
--Previous Message--
: My 9 year old daughter (adopted when
: she was 3 days old) was just found
: to have this rare chromosome
: "nick" and we were told
: there is nobody with this specific
: micro-deletion in some genetics
: database. I am looking for another
: family with a child with this
: specific microdeletion (or to find
: an adult.) She has no physical
: signs (that is why we are just
: finding this out after we pushed to
: get the chromosomal micro-ray test
: done), but she has developmental
: delay, learning disabilities, ADHD,
: anxiety, behavior and social issues,
: some obsessive compulsions,
: emotional regulation issues, mood
: swings, oppositional defiant issues
: (mental health types of concerns),
: constipation/gastro issues, bladder
: and reoccuring yeast infection
: issues, movement disorders, and
: wears some foot orthotics. We are
: in the process of getting her
: neuro-tests re-evaluated now that we
: know this genetic piece...as well as
: checking out kidney and endocrine
: system. Anyway, I JUST started my
: search and would appreciate any
: ideas on where else to network or
: any other ideas to consider in
: providing the best care so my
: daughter can be as successful as
: possible.
:
: Many thanks,
: Janelle
:
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