mychickachicka

22Q Deletion Syndrome means that a very small piece of chromosome 22 is missing. The actual syndrome manifests itself in very different ways from person-to-person. Some people are very mildly affected while others are on the severe end of the scale. About three out of four of these children have serious heart defects and some even die at or shortly after birth. There are also children with serious immunity problems. These are only a couple of ways that the deletion syndrome manifests itself. There is actually a list of 187 symptoms- one person with 22Q may only have a one or two symptoms while others may have several. Luckily my daughter is in the mild range of this disorder, except for one aspect- her speech. Some people are so mildly affected that they may not even know they have the deletion.

The fact that despite being parents for 3 1/2 years, we have never heard our child say "I love you".

Theoretically I suppose it's possible to have all the symptoms, but pretty unlikely. Even those most severely affected usually have maybe 25-30 different symptoms, while those on the mild end have only a few. Usually the severity of the overall disorder is due more to the severity of each individual symptom. For example, my daughter has long, tapered fingers, which is a symptom, but that's not a bad thing! Maybe she will become a pianist or guitar player like her father. Her biggest problem is with speech and sensory issues. Another 22q person may have had numerous heart surgeries, perhaps some mental capacity problems, immunity problems. Everyone does it differently.

We found out that our little girl was affected about three weeks after she was born. During my pregnancy with her the only thing the doctor was concerned about was the amount of amniotic fluid- I had about twice as much as normal. I saw a perinatal specialist and they examined her as thoroughly as possible before she was born but they could not find anything wrong with her structurally. We were told at that time that the excess amniotic fluid was probably just a fluke. However after she was born she had fluid in her lungs and had to be put on a breathing tube for a day. She was taken to the NICU And when they try to feed her the milk would come out of her nose. Then they said that they detected some slight seizure activity in her brain. She was then transferred to children's hospital where every single specialist under the sun had a look at her. Someone from the genetics department came by and noticed some very slight facial features that suggested possible 22Q. They did a specific test for it and lo and behold that's what she had.

Woot Woot! I was hoping this would happen! I'm sure we'd love to hear your story. As you know every kid does it differently. Also please drop me a PM...I'm sure you know how hard it can be to connect to other 22Q families! Guess we better keep your kid away from mine because she attracts boys like flies!