Obviously we were anxious to have the boys screened for HCM via echocardiogram and EKG. They've both had these before at younger ages, but the tests were done in a general cardiology clinic at a time when the technicians weren't very versed in the nuances of HCM. Thankfully, this is changing as HCM gets more press coverage due to its dramatic impact on athletes. Maybe sports DO actually have something productive to offer the world.
A million questions cross our minds: Do Richard's recent bouts with shortness of breath and fatigue indicate early onset HCM? If one of the boys has it, will it present with the same severity as mine? How would diagnosis affect their lives - sports, hobbies, career, children of their own? These are typical questions for HCM parents that just pile stress on top of dealing with your own illness. Rich is old enough to understand these fears - he knows why Dad can't coach the soccer team, take him camping, swim in the deep end, hike, bike, or wrestle for very long. He sees me endure weeks at a time of near crippling fatigue, nausea, and knows my longing to be more active, to play drums and and run with him in the park. He carries a lot of weight at home when I have bad reactions to new medicines, or simply have a bad day. He's old enough to see how his life might be years down the road.
We've tried to be as optimistic, yet realistic with him as possible. Yes, there is a chance you will inherit HCM. No, it doesn't mean you can't have a full life. There are adjustments and struggles, but there are others who are worse off. Ultimately, it has been an opportunity to teach him to cherish each day he can run, play, and revel in his freedom, both as a child and as a healthy person. We try very hard not to live with a cloud of doom hanging over our heads, but as we headed for Boston, a parent can't help but consider the worst case scenario.
We were relieved that no signs of HCM were visible on the boy's test. Dr. Nickh (the pediatric cardiologist) wants to see them both back in a few years. Echocardiograms and EKG's will become a normal part of their life by the time they are teenagers - they'll need to be tested every year. The fact that no HCM shows up in these tests right now doesn't mean they won't develop it in the future - they are only snapshots of what's happening right now. It's great news that there is no development at this young age, but statistically, HCM rears its ugly head in the late teens to late 20's. Who knows what type of treatments will be available by then?
Another benefit at Tufts is the affordability of genetic testing for HCM. Genetic testing involves drawing a blood sample from an HCM patient, and testing the DNA markers against blood relatives. These tests can cost up to $4000 for the initial patient, and up to $2000 per relative, and insurance usually covers none of this. Tufts has worked out a deal with most insurance providers to consider this a "normal" test, only costing the patient the price of a typical co-pay. Hopefully other HCM clinics across the nation will soon follow suit. I had blood drawn, which will yield results in a few weeks. Sometimes, no markers show up (researchers have yet to identify all existing HCM markers). Dr. Maron feels that my mutation of HCM is so unique that there's a good chance of markers being present. We can then test these markers against markers in the boy's DNA. This should allow us to determine whether the boys actually have HCM or not.
Even if they do, it would not necessarily mean they need to be medicated yet. HCM patients do not take meds to treat HCM - they take them to deal with symptoms caused by the heart's malfunction (blood pressure, circulation issues, etc.). So only if the symptoms of HCM interrupted their daily life would medication be recommended - some HCM patients are on very little or no medications whatsoever.
Either way, we can at least breath a little sigh of relief for now.
As for me, my situation has changed little. Last year when I had a heart MRI and Echo at Tufts, I was experiencing rapid ischemia (muscle death). The rate of this deterioration alarmed both Dr. Allen (my Bentonville cardiologist) and Dr. Maron, particularly since my condition had remained largely unchanged for ten years. Medications are no good in this situation, other than to stave off the inevitable water retention associated with diastolic heart failure. It was at this point that Dr. Maron explained that the only "fix" for such an aggressive mutation of HCM, is a heart transplant.
By the time we made it to the HCM clinic in St. Louis last summer, the ischemia had stopped, and the disease had once again plateaued. This is a good thing, but it leaves me with very little muscle mass to pump blood and oxygen to the rest of the body. The transplant physician in St. Louis (Dr. Joseph) and Dr. Maron both agree that if the disease accelerates rapidly again (as it has twice in my history), I will need to be placed on a transplant list as quickly as possible. In other words, there's very little muscle left to deteriorate. For this reason, Dr. Maron wants to monitor me every 4-5 weeks while we are in the New England area. I can also be seen at Barnes Jewish in St. Louis for checkups if need be. All my other tests will be kept up to date as much as possible so there are few obstacles to listing me for transplant when the time comes. In the meantime, we'll be adjusting meds to fight the edema (water weight) and keep the functioning muscle relaxing, and blood pressure at a normal level).
Here's what this comes down to for all of us: We are choosing to live our life and soak up everything we can, while we can. As my mom says, "There's a huge mountain to climb, and we know it's coming." We are trying to navigate the foothills right now. It's tough to balance living a "normal" life with preparing for such an abnormal interruption of it. Hopefully, this also serves as part of the boy's education. They don't realize it now, but maybe when they're older they'll see that we didn't let our limitations keep us from adventure, and that sometimes you just have to take risks and do what makes you happy. I hope they also see that we've not done that without counting the cost and trying our best to prepare for the future. There's a balance, and I'm not sure we've struck it just yet. But we're getting there.
(Pssst! For more information on HCM check out our friend Lisa Salsburg's awesome site)