Patient Comments: Genetic Disease - Screening

Question:

Have you been screened for a genetic disease? Please share your story. Submit Your Comment

Comment from: Rwashi, 0-2 Female (Caregiver) Published: January 07

My great granddaughter has nail patella syndrome and heterotaxy syndrome. She is 3 months old. It is so complex and I don't know anybody else who has that combination. They tell us it came down from my family, but no one has ever had heterotaxy. We don't know how they're going to affect each other. I don't know of any people with genetic nail patella syndrome and heterotaxy.

Comment from: Polly, 75 or over Female (Patient) Published: July 05

My mother and I share a history of low thyroid, muscle weakness, bowel and bladder problems, cancer, but different cancer. I had a work-up a while ago, I could see from my insurance they did genetic testing and other testing I was never allowed to see or retrieve.

Comment from: Ganga Devi, 45-54 Female (Caregiver) Published: November 03

In my mother’s family, first my mother's big brother was diagnosed with tumor. Then her sister was diagnosed and again one more brother diagnosed. Yesterday I we diagnosed. Wondering if this is possibly a genetic disease.

Comment from: Averil, 55-64 Female (Patient) Published: February 12

I was screened, and found to have, Lynch syndrome.

Comment from: Donna Etta, 75 or over Female (Patient) Published: November 25

I wonder if the fact that I have had vitiligo for the major part of my life has any effect on my development of macular degeneration.

Comment from: Mariabars, 45-54 Female (Patient) Published: January 29

I have been diagnosed with pallido ponto nigral degeneration which is caused by an N279K mutation on exon 10, chromosome 17.

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