My Niece Has A Very Rare Chromosome Disorder.

M y niece was born on an autumn day. She came out gray after a horrendous birth in which the doctor was called (he was in the hospital and rarely checked on my sister) but didn't arrive until after she was born and my sister lay bleeding and torn open. After an eternal few minutes, my niece finally began breathing. She seemed to have survived the worst. After several days in the hospital, and close observation, both had recovered and went home. One month went by and my niece went back into the hospital with a serious viral infection. She had a fever, problems breathing and cried throughout the night. She recovered after several days and finally was sent home. Several months went by. She seemed fascinated by her hands. She could even put her heel flat against her face. We thought, "Oh, she's so flexible!". When it was time to introduce solids, she couldn't sit up on her own. She had to lay in a bouncer to be fed. We thought, "Oh, she's a late bloomer." When it was time to rest on her knees to learn to crawl, she lay flat on her belly. My daughter, who's 7mos younger, began to pass her up in milestones.  Things just didn't seem right. She wasn't sitting up on time, crawling on time, feeding herself on time, or learning to talk on time. We wondered if the birth had anything to do with it. My sister and her husband spoke with the doctor who ordered genetic blood testing.  My niece was diagnosed with 2q37 deletion syndrome, apparently so rare there are only about 100 documented cases. The news was frightening. Most children only survived until they were 5yrs old because of renal cancer that often occurs with this condition. There were 2 stories of hope, though. A young man and a young woman, both unrelated, had survived and the young woman is said to be a librarian. And now because of ultrasound, the cancer can be found early and the children have a higher rate of survival. The doctor did say that she would learn but would be delayed about 7mos verses her peers.

It was a great day when she learned to sit up. Tears of joy flowed both monumental days that she learned to crawl and then walk on her own! For a long time, her demands were voiced only by uninterpretable screams and crying and sobbing, every day, sometimes for hours, and sometimes for hours every night. She has been signing a bit for about a year, and now at 3, is learning to talk.
With much love and patience, my sister and brother in law have endured these 3, very tiresome, years. And we, their family and friends have supported them in whatever way we can. We have yet to meet/find anyone else coping with this disorder.