I Have An Undiagnosed Child
I have a 20 month old son that had a very bad start and is still having problems pop up. At 6 days old he had 2 small seizures involving his hands and legs, after which he cried and got the hiccups. Both happened late in the day. By midnight he started seizing again. So at 7 days he had 15 full body seizures (no loss of conciousness) in the hospital. All lasted from 2 minutes to 4.5 minutes. After a clear spinal tap they started the blood tests. It showed very low calcium (5.2) and slighly low magnesium. His sodium was low and getting lower. Also his albumin was low and his blood smear showed many teardrop shaped RBC, high platelet count and high WBC and macrocytosis. He was given phenobarb and the electrolytes he was lacking. When his seizures were controlled the doc wanted him sent to a Childrens Hospital to see specialist. So he was sent via ambulance (the heli's rotors were iced over) and had more seizures on the way. After a reaction to one of the many drugs he was given he went into anaphallix shock. When he got to the ICU they put him on a ventilator (CO2 was only 6.5cf). After a few weeks at the hospital and like a thousand blood tests he was discharged with medications (calcium carb, mag. oxide, and Vit D). Those worked for about a month then the seizures started again. They would be full body, absent, or half body. So he was put on phenobarb again. Then the constipation started. He was put on karo..didn't work. He was put on a lactose free diet..didn't work. So he was put on mira-lax. It worked for about 5 weeks with daily doses of half a capfull. Then the had to be increased over and over until the max adult dose didn't do a thing. Remember he was only like 15lbs at the time. So we tried suppositories..didn't work. Now he is on daily enemas and it is taking more and more enema to make him go. Now he does't hold it back and not push at all. In fact he tries to go so much so that he will bleed. His former Pcp died so he sees anothe doctor that will not send him to a gastroenterologist. Well after my second miscarriage, this one at 4 months along, he is finally being sent to a geneticist. We never got any answers as to why he is the way he is. He stumped the specialists (quoting his team of doctors at Childrens). Does anyone have any idea of what we are dealing with?? He is very smart and strong. Good coordination. But he is short (30" at 19 months) and has pointed ears. His feet are big for his size. He wears 12month clothing and size 6 baby shoes. Any input would be greatly appreciated.
