Dear Lily:
My son, Gabriel, is almost 2 years old. We are very, very lucky because he is doing really really well.
When he was about 3 months old he appeared to be blind, and this was our first clue something was up. After ruling out a brain tumor, we went to a neurologist who ordered genetic tests and sent us to a geneticist. Then we received the diagnosis at 7 months old. Gabriel had begun to "see" by then - the eye doctor says he has "delayed visual maturation." He had strabismus (turned in - cross eyes) in both eyes and surgery to correct that. He also has nystagmus (shaky eyes) and that is not correctable. Luckily it's not too too bad. He can now see up close, which is miraculous, but we do not know how well he can see. Nor do we know how much distance vision he has. Only time will tell I guess. (He can't be tested for visual acuity until he learns to answer the questions.) He also has ear tubes - he received them at a little more than one year old and soon thereafter began turning to sound. I feel so bad that he had little-to-no visual or auditory input for so long. But, i am very happy that he can hear now!
Other stuff: He is very short, we may have to do some follow up with an endocrinologist depending on how much he's grown by his 2 year well child check. He had undescended testes. One was brought down in July and the other will be brought down this winter (it was higher up and requires a two-step surgery). He also has delayed development due to low muscle tone - he can sit up if you put him into sitting, but can't get there by himself from laying down. He now rolls around (when motivated) and can stand at a couch if you help him get to standing. No crawling or walking yet. But we are going to PT and we try to do the best we can with his exercises - he is making progress, but sometimes it feels painfully slow!
We have no certainty of his cognitive ability (I believe he understands a lot, but have no "proof"). He cannot communicate very well, so its hard to say. He can sign a few words (eat, drink, more, book, sometimes "sleep" or "up" but not reliably) but his signs are not the "typical" American Sign Language ones. This is no problem with us, but it is unclear if he has a hard time seeing the signs we show him, or if his hands are too small or not enough muscle tone to make the "correct" signs. I don't care what he signs, as long as he can communicate!!! He just this past month learned to say "Mum" and "Da" --his only spoken words -- and about 75% of the time will say them to the appropriate individual. But, he has to be in the mood - he has quite the personality!! He doesn't do many of the cognitive type things kids his age do, but again is that due to low vision? low muscle tone? cognition? who knows? (this is very frustrating... of course). Oh, and he has asthma (not a big deal so far; we came close to but avoided pneumonia last winter - let's hope the same happens this winter).
He was actually born on my birthday in October 2008 and smiled the first time on Mother's Day (almost 7 months later). It was wonderful. He is a dear boy. He absolutely loves music, light-up toys, his sisters, baths, giggling, and having his favorite books read to him. I could say a lot more, but i don't want to take up too much of your time!
We also have a 6-year-old daughter, Grace, and a 4-year-old daughter, Anne (Annie). They love their brother, but he worries them sometimes because they do not like him going to the doctor so much. Luckily his number of appointments has really tapered off, and that makes it a lot easier! He has tons of therapy, but that is OK because its not scary to the girls.
How is your son? If you want to meet some more parents, you can join chromosome disorder outreach. they will give you a list of parents of kids with PSS who want to communicate with each other. I know of a mom in Louisiana with a ~ 6 year old daughter , a mom in Australia whose daughter has PSS and WAGR, and a mom in the midwest (i am forgetting the locale) whose daughter is about 3 or 4. The girls in Louisiana and Australia are doing really well (can speak more than 100 words, walk, etc.). The younger girl has had a tougher road due to a seizure disorder that really impedes her ability to learn and make strides. I think i've seen mentions in their emails of other kiddos they know about who have more severe symptoms and at least one child who died after repeated bouts of pneumonia. I think that, because its so rare, we just don't know what the future holds. But, i am sure you know that already!
I have to run, but hopefully we can talk more soon.
Janet