Thursday, February 28, 2008

Genetic Testing

Last Friday I went along with my eldest daughter Deana to take her youngest, Ayden ( 14 mo) to the pediatric cardiologist for a follow up visit. Ayden was born with a small hole in her heart, as all babies are. Usually within a few days the hole closes, but Ayden's has not. It is very small and the cardiologist says there is nothing to worry about unless the hole becomes larger. She doesn't need to be seen again for another year unless there are problems.

In Ayden's medical chart is the family history. Maternal Great-Grandfather ( my dad) , heart disease, died at age 42. Maternal grandmother ( me ) heart disease ( HCM).
The doctor told Deana she would like to speak with the grandmother, not knowing I was out in the waiting room.

I went into her office and she began asking me questions about my HCM, surgery and whether my children had been tested via echocardiograms. All three daughters have been and their echos came back normal. But that doesn't necessarily mean they didn't inherit the disease from me, I didn't start to show symptoms until I was 47 years old. I am now 55. It also doesn't mean that I passed it along to them. The only conclusive way to know is through genetic testing.

To backtrack a little, I had my surgery ( septal myectomy & mitral valve repair) last February 2007. Shortly afterwards, maybe a few months, I had received an email from the HCMA forum letting me know that Genetic testing for HCM was now being done. At that time, insurance companies were not paying for any part of it. The cost was very high at $4,150 for the full DNA gene sequencing and I knew we couldn't afford it, so I deleted the email. Had the insurance covered it, I would have had the testing done, so that the mutant gene that may have passed to my children at birth can be identified. One way or another, my girls would know if they inherited my heart disease. If they did not, then they are not at any risk, and neither are their children. If one or more did inherit the gene, they would need to be closer evaluated and their children would also be at risk. The girls would also need to be tested. Their fee would be much smaller at $250 each but still, at that time insurance wasn't covering it.

Ayden's cardiologist told me that just that afternoon she had attended a seminar for Genetic Testing of HCM. Insurance is now paying all but 15% of the cost. My 15% would be $700. The girl's 15% would be $50. Mine is higher because I would be what is referred to as the 'index case'.

The doctor said the company that held the seminar is called Correlagen Diagnostics and she is going to acquire the paperwork for me to fill out and sign.
When I do that, we'll go from there.

In the meantime, I have been trying to learn what I can. One thing that has come up that concerns me, is what if one or more of my daughters do show that they've inherited the familial gene for HCM. How is that going to affect them for health coverage in the future. Does a 'pre-existing' condition come into effect here, even though right now they don't have any symptoms, but will eventually. Am I putting the cart before the horse?

I plan on going over to the HCMA forum over the weekend to see if anyone there has actually had the genetic testing done and if they know about the pre-existing condition question. Lots to think about.

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