Genetic Testing to Come

After speaking with Dr. Rietnauer we are going forward with genetic testing on Kyleigh. The appointment will be early in August and blood will be drawn and sent to a lab at Tulane University. The testing is very specific to three genetic strands and they will focus on two of the three strands that Kyleigh exhibits characteristics for the syndrome. It is called "Stickler Syndrome". Here is an explanation of Stickler's Syndrome from the "SIP-Stickler Involved People" brochure.

Stickler Syndrome is a genetic disorder affecting collagen throughout the body. It is an autosomal dominant genetic condition. It occurs equally in male and females and the traits will be exhibited in the child if the gene is passed on by the affected dominant parent. It is a progressive disorder, so the symptoms are more likely to worsen and become more severe with age. It is characterized by problems with vision, joints, and hearing. It is a disorder not a disease, so people can live a long and happy life. It is estimated to be in 1 in 7500 people but often goes undiagnosed or misdiagnosed. When a mother or father has the dominant gene there is a 50% chance that it will pass to the child with each pregnancy. A parent can be the carrier of the gene without having symptoms themselves. This syndrome does not affect life expectancy or mental capacity but it does affect the health of eyes, ears and joints in the person with the gene mutation.

I have done a lot of reading on the Mayo Clinic website and other resources provided by our doctors. It seems that Kyleigh exhibits so many of the characteristics for this disorder. There is a diagnostic criteria chart (12 points) where a score of 5 or more indicates Stickler Syndrome. It can be found at www.sticklers.org and our doctor used this chart to determine that further blood testing was necessary.

My greatest fear is that she has the harshest form of this syndrome and could very well face blindness as it is a progressive disorder and her vision is already weak. However, we will continue to put her in the hands of God and trust that he has her life planned out.

On a side note, we go to the eye doctor tomorrow at Duke for a follow up to her surgery in April. I hope to hear that her pressure is still stable and that her eye is healthy. Kaitlyn will also see the allergy doctor tomorrow for her annual check up.