hi jen,sorry to hear youve all bee through so much,i dont come on here very often as this sites not really that active,my son is most probably sotos and we are waiting to see an expert in a couple of weeks time to confirm even though he tested negative with the gene testing,what characteristics does your son have that makes the docs think its sotos? keep in touch and you could always go on the sotos support site there are lots of people you could talk to on there,there are quite a few with other  growth disorders who go on there and ask questions and make friends who have been through similar stuff,good luck and keep me posted,maxine uk

malachitemomof2 <malachitemomof2@yahoo.com> wrote:

My name is Jen and I am the mother of a 1 yr old, who for the past year
has been a dwarf, and now they are saying he is a giant. At birth he
was a whopping 9 lbs and 19 in long...oh yea...and 5 3/4 weeks early.
So he has been big to begin with. When he was in utero - they told me
he had hypochondroplasia. So he has been a dwarf for the past year and
now all of a sudden they are changing their diagnosis to a cerebellar
gigantism? I joke saying that he has some kind of new giant-dwarfism.
He is HUGE, but he is unporportional and his body shape and head size
and facial features look just like dwarfism. Paul has been a very sick
little big man since he was born. He has had necrotizing entercolotis
2X, with stomach surgery the 2nd time. He also has hydrocephalus, which
was not present at birth. He was shunted at 5 mo of age and also
diagnosed with Arnold Chiari. Do any of your kids have Chiari? I was
wondering if there were some kind of link between gigantism and chiari.
A lot of dwarfs have that chiari also. Paul has lymphedema, which I am
really not sure what that means in long term. Everone says he is
chubby,but he just has all that puffiness. He always has, too. His
whole face was covered with a hemangioma also, but most of it went away
after a while. He is always sick. He is sick right now with some nasty
cough that has been going on for 2 months. First he had the croup, then
ear infections, the bronchiolitis, and now they say he is not sick at
all, even though he coughs so hard sometimes he pukes. Whatever though.
I can't do anything else. He is very very happy. He is severly
hypotonic and cannot sit up (even with help) and cannot crawl and docs
have given the impression that he may never walk. I think anything is
possible, so I do not believe that. Paul is scheduled to have the
surgery for the chiari next month and I don't know what to do now.
They are leaning towards sotos, are awaiting results...will post pics
asap. Any comments, questions are greatly appreciated.
Thx, Jen

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