I have been a lurker for a while here. Mostly I am under anti-circ boards but recently researching special needs info. My DS is currently 33 months...he was born premature @ 36 weeks and had a fraternal twin brother who passed shortly before due to asphyxia and blood loss of unknown causes. However, I had developed severe PIH and pre-eclampsia. He was healthy at birth, 7 lbs with Apgars of 8 & 9. He was kept in special care nursery for first 2 weeks because of poor feeding abilities (poor suck)..I've always had to use fast flow nipples. Otherwise he eats fine now except it takes him a long time to chew meat and he still chokes on hard foods like raw veggies, apples, etc. He had moderate torticollis of neck at birth which resolved with physio. Genetics was called due to a penile anomaly which turned out to be misdiagnosed. They have been "fishing" ever since for a reason/cause for his global developmental delay (non-verbal, late crawler/walker, does not interact with peers). He has an abnormally large head (over 97 percentile) as well as weight (although he is NOT FAT but strong/sturdy like a tank!)...MRI ruled out hydrocephalus and only showed large brain, father also has large head. He has good muscle tone but high arches from birth. At 12 months he developed RSV and pneumonia after starting daycare a week before...then consequtive ear/chest infections for 5 months following until febrile seizure at 16 months (20 minute, atypical---EEG showed no damage), resulting in ear tubes at 18 months and NO ear infections since (thank god). He just started having croup this year...he's had it about 3 times now...first time he was hospitalized for 3 days, second just for a couple hours in emerg and last time just a steroid shot and then sent home. I am wondering if he is borderline asthmatic...no wheezing on a daily basis but seems susceptible to respiratory infections/illnesses.
Last week he was tentatively diagnosed as being on the autism spectrum for lack of another diagnosis. Developmental paediatrician figures it's better that he gets the help and if in 2 years it turns out he doesn't have it/doesn't need it, great, but if he does better than waiting (it's a 2 year wait list for IBI instructor). I am frustrated because I had brought this possibility up over a year ago and was told it was too early to diagnose and the symptoms tend to overlap with global delay. He has stimming behaviours like spinning himself (he is doing much less of...mainly when he's bored), spinning toys that don't "technically" spin, obsessed with fans, flashing lights, musical toys. He also arm flaps and sometimes flicks his fingers beside his eyes. His sight has been tested and no problems. His hearing was retested after tubes and is good (5db). We have seen marked improvement in his reaction to us calling his name/getting his attention. He does not do imitative or pretend play. He has never pointed but manages to let us know what he wants by physically taking (object) what he wants or reacting to us asking if he wants it (he turns and looks at us if we say juice, then gets upset if within a certain time limit he doesn't get it). He is cuddly and affectionate. He laughs and interacts with us at his discretion. He responds and anticipates with song play (itsy bitsy spider, patty cake, this little piggy, wheels on the bus, etc). He does have his tantrums but mainly minor (thank god because he is STRONG)...he can generally be distracted or talked down when upset. He has horrible fear of bubbles for some unknown reason, he also hates puppets and very loud noises and used to cry if other kids/babies were crying but he's not as sensitive about that now. We also saw genetics to get the "last" set of testing array done and sent to States...she said she will test for fragile X but does not "see" any other significant markers in him. Neurologist said the next day that he still is considering Sotos because of his large head size and delay but genetist didn't think he fit the characteristics....argh. He also mentioned something about his facial asymmetry (the right side of his face being slightly fuller than the left and the syndromes being associated with that). Sometimes these specialists drive me crazy with the "back and forth"...can't they all get together and "hash" it out between them? My head is spinning because I don't even know where to start. He has been involved with physio, OT and speech therapy for about a year but not really intensive.
I am hesitant to start researching syndromes, etc because it is so overwhelming and scary. The genetics results will take 3 months and I think it is best for my state of mind and happiness to just wait and see what they find instead of jumping off the deep end right now. I have to remind myself that my son is the same beautiful, loving little guy that he was before all this testing and "heresay" started. I wish they would just test me and look for markers in me first because some days I swear that I must be mildly autistic...I have always been socially awkward. But from my understanding they do it the other way around, if they find something odd in my son, then they test us to determine if we are carriers too.
Anyway, it is nice to have a board like this to post on for support, love, advice, and enlightenment. My heart goes out to all the Moms with children who have been diagnosed with severe syndromes/diseases....I hope I have half your strength...