I've been a lurker for many months and I feel it is now time to join in.
My ds is nearly 3 and has a rare genetic condition that hasn't got a name - partial duplication of the long arm of chromosome 4. This has caused delayed development (he cannot yet walk, talk or feed himself). He also has Nystagmus (wears glasses with tinted prism lenses), Hypotonia, and Plagiocephally.
He currently has home vists from a Portage worker, Ed Psych, Physio, Specialist Support Services (VI) and SALT, but will be starting nursery in September at a Special School.
He is on the whole a happy little boy with a gorgeous smile but sometimes I worry what the future has in store for him.
Hello (you arent the lady who lives near me are you down in ramgate?)
anyway i have a 5 yrold dd with undiagnosed mod/severe learning disabilites, hypotonia, hypermobily, long sighted and squint, microcephaly and a long list of other diagnosis's I also have a 3 yr old son
I have two sons - Ds1 is 8 years and NT and Ds2 is 22 months with patchy developmental delay (and no dx as yet).
My dh has a translocation of genetic material on chromosome 15, so there is a possibility that ds2's difficulties are genetically linked.
DS2 is a lovely little fellow, very happy (most of the time) but he is also a very quiet little chap who has very few sounds and little discernable understanding.
It is very nice to meet you - I'm glad you've stopped lurking (but that's how we all start!) and decided to join in. Looking forward to getting to know you and your ds
I havent long moved from the midlands. Are you under the Womens hospital then for genetics? we saw Jenny someone her name was (gosh i have forgot the rest of her name ) remember the genetic nurses name was Margret and she was lovely
Hi Fio2 - yes we were seen at the Women's Hospital and yes the Genetic Counsellor was Jenny (I can't remember her other name either!)
Unfortunately, because it is a rare condition she couldn't really tell us much about it other than that it was de novo (happened out of the blue - neither of us are carriers) and that it causes delayed development and maybe all his other problems too.
isnt it a small world??! She is a lovely Dr isnt she?
Sorry the diagnosis hasnt really answered any questions. it is very hard. We still dont have a diagnosis for our dd and |i find it difficult not having a map of the future iykwim, but then again who does?