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Janelle (Nellie)   deletion of chromosome 19 (19p2) duplication of chromosome 15 (15q11.2)
URL: http://nelliesjourney.blogspot.com/
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E-mail: theremustbmore@aol.com
Last Updated: 7/23/2010
Nellie was born full term 11/16/2006 after an uneventful pregnancy. At birth she weighed a tiny 5'15oz. and had single umblical artery. From the first time I held her I felt something was wrong. She looked like all my other children, in fact everyone said she was a good baby because she never cried.

It was shortly after her birth I noticed her eyes shaking. The doctor told me newborns eyes move like that. At three months the doctor said okay this may not be normal and sent her to an eye doctor. She was then diagnosed with nystagmus and a few other eye conditions. It was at this time they told us she was visually impaired and early intervention was called in. Turns out she was delayed in everything and had a feeding delay. Her speech at 10 months was at newborn level and all her milestones were very delayed. She began her therapy then.
Fast forward now almost 4 years and in that time she has now been diagnosed with asthma, her foot turns in, PDD-NOS and hearing loss. I'm sure I am missing stuff and the missing matter on chromosome 19 and extra on 15.

It has been a long road and I am so glad I never accepted the there may never be an answer from doctors. It is such a weight off my shoulders to finally know! I have a lot to learn about what is wrong wih her still and I know every day will bring me to a greater understanding.