Amandas Disability Story

When all blood test came back she told us that I had partial 18th chromosome abnormality, where part of of the arm copied itself and attached its self to the 13th chromosome.

I've been disabled all my  life. It wasn't noticed when I was little.

At 2 yrs old some of my family noted I was limping not usual for me or for any 2 yr old.

One doctor accused me of faking the limp I've been told.

At 3 I begin to see specialist after specialist with no luck what so ever.

At 5 2 of my fingers bent like in half then the bones shrunk.

When this happened at least Dr's now admitted something was wrong but they didn't know what it was.

When I was 7 and my sister 3 we had gone to specialist about Becka's (my sister) asthma and her new Dr took one look at me and had a good idea what was going on so arranged for testing, then she took care of Becka.

When all blood test came back she told us that I had partial 18th chromosome abnormality, where part of of the arm copied itself and attached its self to the 13th chromosome.

Then I was told chance of survival was slim as only 12 people, including myself, had been diagnosed with it and the oldest one to live before me died on his 13th birthday, all the rest died at birth in the first year, and if they made it to their first year only to five years old.

However it was predicted because mine was only partial I'd live to 15 when I made it to 15 the next prediction was 20 and I am now 22.

Now gonna go back a bit. See at 7 she also told me that she thought there was more to it but she wasn't one to figure it out so I was sent to another specialist whom told my mother and I that I had osteogenisis imperfecta. When I asked what?  He said a simpler name for it is brittle bone syndrome and then said the reasons my hands were disformed was a combination of that disease and the fact I had juvenile osteoarthritis. My mother asked would that be why she's in pain, limps,and walks on heels a lot of time. He said pain yes, limp hard to know, and I don't know on the heals but we can correct the heal walking with therapy.

Later on we found out during a test of curiosity from Dr's that hips were uneven hence the limp.

That's how the diagnose of main parts of my disability came to be. Other things happened later on that Dr's were pretty sure stemmed from them. I would also like to note that people with osteogenisis imperfecta often die in child hood do to their fragile bones, however there are some adults living with it and we are the lucky ones.

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