Hi again everyone
Here goes a bit of an intro:
Our wish kid is Justin...
He is our "lottery child".
We apparently had a one in a billion chance of having him. He has a rare chromasome disorder that only one other living child in the world has. There is no actual name but in basic terms the short arm on his chromasome goes 11,12,13,12,13,14... so he's got a little extra something, something
So, From the time he was born (4 weeks early) It started out (kinda) normal he did need oxygyn after birth but they sent us home the next day said that he may have delays from being born early
Well we got him home and turned around and took him back to the city an hour later, he just didnt seem right.
When we got back to the hospital they tested his sugars and they had bottomed out and he was emergency gavaged(fed by tube) so he didnt get brain damage from the lack of sugars. At this time they decided we shouldnt have been sent home as his billyrubin was too high. So we were admitted to the NICU for the next 2 weeks
This is when the clues started that there was something abnormal although we wouldnt recognize it till later. From there the next thing I noticed when he was feeding one day was that one of his pupils was misshapen and the iris was somewhat bumped up. He also couldn't track a toy visually. The bump turned out to be a rare iris cyst something that the leading pediatric opthomologist (who was retiring) hadnt seen in his career. If it was left it would grow and cause him to be completely blind in that eye so at 6 months he had surgery to deflate it. From that surgery he did later develop cateracts and needed surgery again to implant an artificial lens and then a third time to make a hole in the artificial lens because cells were collecting underneath. Also with his eyes he has a condition called nystagmus where his eyes bounce and drift and snap back into place, this is a nurological condition that cannot be corrected. So with all of those things plus his farsightedness he is legally blind.
The next area of concern was his development he didnt follow the usual timeline and didnt sit until a year, walk until two etc. He does pretty well now but has Sensory processing disorder and dyspraxia( brain to muscle planning difficulties) . SPD causes him to fear/ be easily overwhelmed by certain sounds etc.unlike ADD where you can't focus on one thing easily with SPD you can't not focus on everything.
He has a stronger fight flight or flee reaction and is constantly in a state of hyper awareness.Our OT says to imagine that feeling when you are driving along and some thing darts in front of your car, you slam on the breaks and are likely feeling your heart pumping in your ears your eyes darting around looking for anything else that may run out and shock you and a shakey feeling from your head to the tips of your toes, thats the way SPD kids feel all-the-time.
but on the other hand he is a sensory seeker so you will find him desiring thrill rides because they make him feel right in the world, he is such a different kid at Disney if we could wed live next door!!.
One risk in the area of the chromasome that is abnormal in J is a tumor of the kidneys so at 2 years old when he was diagnosed they started doing ultrasounds and found the kidneys to be smaller and denser than they should be. When he was 3 they did a biopsy and found that he has a prolific cystic disorder(basically his kidneys are filling with micro cysts) so they said he by 5 would need a transplant, but then he didnt so then they said 6 or 7 then when he was 6 they said 7 or 8 then 9 then they said they have no idea why he didnt need one yet and( keep in mind that it could change at any time) but now they are thinking late teenager before he needs his transplant. While they were doing the biopsy they found that he also has an unknown auto immune disorder that under the scope looks like lupus but isnt or he would have been in end stage renal falure
Dr.s around the world have no idea about it.. (see hes a lottery kid I tell you) And in a couple years they want to do another biopsy to see whats going on. And we continue with yearly ultrasounds.
So other than his major stuff he also has hypoglycemia, weight gain problems even though he has 2 cans of pediasure in addition to all of his snacks and meals, allergies, asthma, a malrotation of his intestine and some cognative delays. He is also extra lovable, sweet and truly unique.
. Phew I think I got it all?! If you have kept reading, sorry this is really LONG!!