Genetic and nonGenetic Testing for Kids

[Colorado213]

My husband has HOCM, and we are still awaiting results from his genetic testing. But we are wondering about testing our three boys (11, 8, 6).

Would echos yearly or twice yearly be enough to screen them? When did you start?

Have you had your kids genetically tested?

I have several concerns with testing (in jump-to-my-mind-order):
1)their ability to obtain life insurance as an adult if they test positive (thank goodness my husband already had it through work)

2) Unnecessary restrictions if they test positive but never have symptoms.

3) If we only use echos, how at-risk are they between tests? Even without heart growth (to be considered HCM) on a cellular level are they at risk for SCD or is that only once the heart starts to thicken?

[mbcube]

Re: Genetic and nonGenetic Testing for Kids

As with HCM, there are no clear-cut right & wrong answers. Generally, Echos are yearly until adulthood, then every 5 years unless symptoms arise. You can start now, there is no general age to begin testing. Once your Husband has the genetic results, they can then test the kids as they'll know what to look for. As to testing positive/insurance. This is a sticky wicket. While some recent laws protect and the Affordable Insurance Act also has some protection, Insurance companies can deny and come up with some other reason. If it were me, I'd have them tested regardless. Once they do get employment, have them keep the policies issued at work. They are often portable (and no one asks that!) As to restrictions (and BTW, excellent questions) most folks tend to just have kids lean towards less active sports.
And as to risk - we can't go through life fearing something so remote and rare. The percentage of SCD is extremely low. If your child presents markers/symptoms for HCM, then the prudent thing is to begin to limit risky activities. But if there is no family history, or symptoms, then one must make a personal decision as to how much to limit. Your doctor can advise as to how to proceed.
Typically with kids, the pros tend to be hyper-vigilant during puberty and those major growing spurts during the teen years. No one can say when or if such things can happen. it could happen walking out of an echo! but again, the chances are rare.

[Cynaburst]

Re: Genetic and nonGenetic Testing for Kids

All of the concerns that you raise are legitimate. The Genetic Non-Discrimination Act does not apply to the issuance of life insurance - only health insurance and employment. If your husband's HCM gene is identified and the kids are then tested and found to be negative for the gene, then they do not have to undergo further serial screenings. For those that test gene positive, or for those whose genetic status is unknown, the normal recommendation is to screen by cardiac exam and echo every 12 - 18 months beginning at puberty or about age 12. If symptoms develop in between, then obviously you should go right back in, even if it has not been a year.

I started screening my own son in utero, and have screened every year to date. He is now 12 and will be screened every year through adulthood.

As for limitations, unless a child has a diagnosis, there are no restrictions, even for gene positive kids. Obviously there are no guarantees in this sort of thing, so there is no absolute way to protect yourself from SCD, between screenings. However, the hope is that the child will show some signs of HCM and be properly protected in hopes of avoiding the worst case scenario.

I just try to be prudent with my own child. He actually has self selected activities other than competitive sports, and that is what is encouraged for HCM kids (even though my son is currently not one). As a parent you can only protect your children so much, and then you have to let them live their lives.

[NDFAN]

Re: Genetic and nonGenetic Testing for Kids

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[jubilee1972]

Re: Genetic and nonGenetic Testing for Kids

My son & I both have HCM. My son & daughter-in-law have 5 children under 14 yrs of age. Last week we went to Hopkins for genetic testing. Assuming we get conclusive results, the doctor advised my son and his wife to consider purchasing life insurance for each of their children before having them tested.

[mbcube]

Re: Genetic and nonGenetic Testing for Kids

Jublilee1972 - this is a good idea if possible as its difficult to get once a DX has happened. Also - a reminder that many employers policies are transferable so if you leave a firm where you have a policy, inquire if its portable.