Subject: Re: [UndiagnosedOvergrowthSyndromes] new to the group
Maxine, I am guessing that the main feature is the size and shape of his noggin. It is a whopping 53.5. He has always had a huge head. He is 27.5 in long, his torso makes up most of that measurement. He has comparatively short legs and arms, but the geneticist is attributing that to my family because apparantly my mom told him that my dad has short arms and legs. Paul also has what the doc is calling lymphedema of his whole body. I just watched a show on that and Paul does not look like that. I guess it usually attacks the arms and legs. Paul is "puffy" everywhere and always has been. He has extra creases and joint laxity. He weighs just about 26 lbs(only 4 lbs away from his 3 yr old brother). He was hypoglycemic at birth, jaundice, and terrible feeding troubles (still do). I read that those are some problems that neonates with sotos have. I still really don't know what to think. I guess we will just have to see how he grows AND monday we have CT scan then scheduling posterior fossa decompression surgery for Feb or March. I am really scared and was wondering (am going to ask doc) that if he does have sotos, does that mean that his brain is jsut going to keep getting bigger and would that mean that he would need more tha just this surgery?! This site is quiet, Jenny
maxine powis <mxnpowis@yahoo.co.uk> wrote:
hi, i think its quite accurate,but i now understand from michaels doctors that you can still have sotos and test negative for it,its a fairly new test and there could be more than one mutation that they havent identified as of yet,its complicated stuff i dont know much about it ,sorry! what other clinical features does he have,michael has all the features of sotos but tested negative ,we are seeing a specialist on sotos who will confirm it either way for us ,we have to wait about 10 more weeks,weve been waiting since october to be seen,but hes such a good doctor its worth the wait! maxine uk
Jennifer Rodgers <malachitemomof2@yahoo.com> wrote:
Maxine- I actually do not know what makes them think that it is Sotos. I am guessing the size and shape of his head. I really do not know. How accurate is the gene testing for Sotos? Jen
maxine powis <mxnpowis@yahoo.co.uk> wrote:
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
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
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...
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...
Maxine- I actually do not know what makes them think that it is Sotos. I am guessing the size and shape of his head. I really do not know. How accurate is...
hi, i think its quite accurate,but i now understand from michaels doctors that you can still have sotos and test negative for it,its a fairly new test and...
Maxine, I am guessing that the main feature is the size and shape of his noggin. It is a whopping 53.5. He has always had a huge head. He is 27.5 in long,...
Hi Jen, I am a member of the Sotos site as well as this site. My son is diagnosed as Sotos-like and is now 8 years old. The brains of Sotos individuals are ...
Hi Jen I can imagine how confused you must be by such diverse diagnoses and I am so sorry that Paul has so many health issues. I am afraid that this site is...
Hi Jenny I might be wrong but I am sure that children with Sotos have an arm span which more or less equals their height. Susan UK ... From: Jennifer Rodgers ...
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