Today May 31 is my second granddaughter’s first birthday

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A year ago her birth appeared normal.  Then about two months later the doctor recognized her head was not growing normally and her left ear was protruding and appeared to lack normal cartilage.  A couple months later after genetics testing, we got the bad news — she has a chromosome defect.  A  defect called a 6q 25-terminal deletion.  In layman’s terms that means that the longer chromosome of her 6th chromosome pair is missing a section at the end.

Her primary problem is a malformed brain.  She has a condition called holoprosencephaly which means that her forebrain did not properly divide into hemispheres.

At age about six months we were told by the neurologist that she might never talk, never walk and never be potty trained. At first, it was kind of hard to accept and we would have wanted to consult with another neurosurgeon like dr timothy steel or someone of similar reputation. But in time we seemed to have adjusted to this rare situation.

Today at her yearly exam my daughter was told the same thing by her pediatric neurosurgeon who is scheduled to do cosmetic surgery on her head.  Quite a disappointing first birthday.

Neither my daughter or her husband have any chromosome abnormalities — my granddaughter’s condition is a very rare defect.  We only know of about forty reported cases.  It is so rare that the National Organization of Rare Diseases (NORD) does not mention it.

There is a facebook group started for children with this defect and the good news is that nearly all walk and some can sign.  All are very developmentally delayed.

She is cute as a bug even though her head is a bit lopsided and her left ear protrudes.  Blond hair and blue eyes — no one in my family has those traits.

Anyway we shall carry on.


    • TMC on June 2, 2011 at 5:21 am

    Happy Birthday, sweetie. Your Grandfather obviously loves you very much.

    Thanks you, David, for telling us about your beautiful granddaughter and her very rare and special problem.

    Could you post the link to the FaceBook group? Maybe we could help them get some attention.

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