Saturday, September 25, 2010

Genetics Testing

The genetics counseling doctor called me the other day and said the results had arrived from the lab regarding Stickler Syndrome. Kyleigh had met the criteria of the syndrome based on the checklist, or at least enough of the criteria to warrant testing. Seems that the test cannot be 100% accurate. Kyleigh's blood work came back inconclusive meaning as far as we can tell she most likely does not have Stickler's Syndrome. The doctor explained that she may have Stickler-like Syndrome. What does this mean? It means, we do more bloodwork in about 6 months. The doctor doesn't want to just accept that we have yet to find a link connecting Kyleigh's birth defects and development to a common cause. We agree that it would be helpful to have a name to call it so that every doctor, teacher and care provider can best work with Kyleigh if we have an understanding of what the future holds for her development and medical health. For now, we go on with everyday life and meet with the doctor at some point next summer to draw blood for a microarray screening which can lead to a broader spectrum of genetic chromosomal testing.

On another note, please keep my mother in your prayers as she has been experiencing a decline in health recently. Her doctors finally conducted an echocardiogram that showed her right ventricle is not pumping properly. This could be the culprit of her severe fatigue and chest pains. She is waiting to get connected with a cardiologist and go meet with them to determine the course of action. Until then we pray for healing and strength for her as it has been very difficult for her to do even the most ordinary tasks lately.

Blessings to All.

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