A Ton of Bricks
In late December 2015 my wife, Liz, and I were in our hotel room in San Diego when she said, “I think I know what Michael has.” Before Christmas Michael had been examined by his neurologist who told him his symptoms, which for five years we believed were caused by the disease Charcot Marie Tooth (CMT), were progressing more quickly than expected. (It seems backward to use “progressing” to mean “getting worse”.) Michael had blood drawn for a genetic test to check the neurologist’s suspicion, but we didn’t ask what it might be.
We enjoyed Christmas and travelled with Liz’s parents to southern California for the New Year’s holiday. Liz’s curiosity got the better of her and she began searching online for another disease that would explain Michael’s symptoms: balance problems, tiring easily, extremely high arches, and lack of reflexes. CMT causes all of these but doesn’t usually progress as rapidly. Liz showed me the article she’d found on Friedreich’s ataxia. It looked like CMT on steroids: Friedreich’s ataxia (FA) causes all the things we thought CMT had been doing to Michael, but whereas CMT affects only arms and legs, Friedreich’s ataxia also usually affects the heart, speech, hearing, and vision, and sometimes comes with diabetes. Particularly alarming were the prognoses for a wheelchair by the late teens or early twenties, and early death.
At the time I said something dismissive, such as, “There are probably other diseases which share Michael’s symptoms; don’t be so certain you have the right one.” Still, what she found matched his symptoms quite well. I managed to set aside any related thoughts for the rest of vacation and the first part of January. A few times I lost some sleep wondering but hoped we were both worrying over nothing.
On 19 January the neurologist’s office called, said they’d received the test results, and asked for us to come to the office. Michael and Liz weren’t available that afternoon so I spoke with the scheduler and repeatedly asked for the neurologist to give the results via phone, but since she wouldn’t we knew it was bad news. I explained we knew it might be FA and asked to be told if so. But no dice, so I went to see the neurologist. She confirmed what we’d feared, gave additional information, and did her best to answer my questions. She went over the symptoms we’d read about and the genetics: it’s an autosomal-recessive disorder, Liz and I are carriers, and Michael got both of our bad alleles. As we were expecting, she said, there are no approved treatments, though she told me about Dr. David Lynch, at Children’s Hospital of Philadelphia (CHOP), who specializes in caring for those with FA, as well as the Friedreich’s Ataxia Research Alliance (FARA) and its pipeline for potential FA treatments.
The hardest part was telling Michael. He and Liz were together in one car, and I was in our other car in the neurologist’s parking lot. I called and said the test had confirmed Michael has Friedreich’s ataxia. Since he was 16 we elected to tell him straight, explaining the various symptoms including the worst, knowing it would be useless to shelter him as he could choose to learn whatever he wanted online after he learned the disease’s name.
Michael was remarkably calm, and aside from tears he remained fairly composed. I’m sure he felt angry, but mostly he was extremely sad. It was one of those parent moments where you feel helpless: you'd do anything to take away the pain and sadness. As he knows what the future holds, for Michael such feeling are more intense.
Those first few weeks were pretty dark. Michael tried to work hard in school, but Liz and I could tell his heart wasn't in it. He continued to participate in other stuff too, taking a date to the Pep Club dance and singing in the school’s musical “Seussical”. But still there were times when Michael was very down.
I threw myself into reading everything I could understand about FA. I half-dreamed I could be one of those parents who learns enough to figure out a treatment or a cure. At that stage we were all grasping at everything. I learned quite a bit about the different potential treatments in the FARA pipeline, and seeing so much work go into so many different possibilities was a bit heartening.
I tried to show Michael some optimism, sharing with him what I’d learned, but it was more difficult for him to appreciate the possibilities. I wanted him to work on the things he could control, like exercising and staying as healthy as possible, to continue to get good grades and prepare himself for life. I wanted him to be ready for whatever treatment there would one day be. Michael always seemed to understand the logic behind what I was saying but it’s easier to see how things might not go as hoped. He was shot out of a catapult and is now flying through the air while scientists design, test, and build the net that is to catch him. It’s more difficult to trust the scientists when you’re the one flying through the air.
In late February 2016, a little over a month after diagnosis, Michael, Liz, and I travelled to CHOP, in Philadelphia, to see Dr. Lynch. This trip was a real turning point for all of us, but especially for Michael. Dr. Lynch was very encouraging, and his strong opinion was that while Michael would have challenges to finish high school and to get through college, there should be nothing preventing him from doing so, and that by the time he finishes college some of the treatments now in the pipeline (or others) should be available, with gene therapy (even better) not too far behind. Dr. Lynch stressed the importance of keeping as fit as possible, so his body would be best-prepared for whatever therapies are eventually proven.
Before leaving the Philly area we visited FARA, where we met with Jen Farmer, the Executive Director, and Felicia DeRosa, the Fundraising & Communications Program Director. Jen and Felicia were also very encouraging, and they explained how FARA funds basic research into many possible FA treatments before the pharmaceutical companies are interested, in order to determine which ones are good candidates for further study. Drug companies pick up those with promise and fund the rest of the research needed. Jen also explained why FA is an excellent candidate for gene therapy. Those with FA have DNA that can’t make very much of the protein frataxin. The DNA can’t do this because there is extra junk in the strand that is repeated hundreds of times. However, the rest of the strand is fine, so if that extra part could be cut out and the ends put back together then the DNA would be able to produce frataxin normally.
So, with these bits of information Michael, Liz, and I flew home feeling a bit better. The cloud had lifted some and we could see parts of the way forward. Michael in particular was changed for the better, and there was more life in everything he did. There were still dark and depressing days but they occurred less often. Other things have happened in the months since that have helped more, especially Michael but also Liz and me, however those are stories for another post.
