Monday, February 23, 2009

Genetic Testing For Hypertrophic Cardiomyopathy

This morning I went with my eldest daughter to take her three children to their pediatric cardiologist for their annual EKG and Echocardiograms. They need to be tested because it's a possibility I may have passed a gene variance ( mutation) on to my children and their offspring for Hypertrophic Cardiomyopathy, since this heart disease is inherited.
Jordyn 9, shows no signs. Jonah 5, EKG showed a probable thickening of his heart ( from the spikes in the EKG) but the Echo shows that his heart is fine. Ayden 2, has a heart murmur but she is also fine. Their Dr. is encouraging us to have the Genetic testing done so we are looking into it.
I am termed as the 'index' since I already have HCM. I'm the one who will have my blood tested to see if I'm carrying the mutated gene. 75% of the time it can be identified. Once this happens, then my children, grandchildren and my siblings can also have a blood test done to see if they carry this gene too. If they don't they will never get HCM. If they do, then they will need periodic Echo's. My own HCM didn't show up until my late 40's.
The test cost around $5,000. We're going to find out if my health insurance will pay for this test. If so, I would be required to pay 15% - or meet my yearly deductible. I'm keeping my fingers crossed it's only the deductible.

1 comment:

  1. Hi,

    My name is Sharon Ray and I am the assistant editor of Cysticfibrosis.net. I am contacting you today in hopes of developing a relationship with your website; we have seen your site and think your content is great. Cysticfibrosis.net offer a free informational resource to both the general and professional public on this terrible disease.

    I hope you show some interest in building relationship, please contact me at sharon.cysticfibrosis.net@gmail.com.

    ReplyDelete

I welcome comments but PLEASE - NO SPAMMING