EDITOR’S NOTE: This Saturday is a rare event, Leap Day. It is also Rare Disease Day, an international campaign to raise awareness about the 7,000 under-the-radar diseases that individually affect few people but, as a whole, affect more than 1 in 10 Americans.
On my daughter’s birthday last year, I drove several hours to visit her at college. I brought her the local vanilla-bean glazed doughnuts she claims are “the best” along with several assorted goodies from home. We then spent most of our afternoon chatting and watching reruns of Friends while we waited for her latest five-hour drip of IV medication to finish.
For all but the first two of her 19 years, my daughter has dealt with juvenile dermatomyositis, an incurable autoimmune disease that affects muscles and blood vessels. Just three in a million children are diagnosed with it, so you probably have never heard of JDM before. Not even if you know my girl. Outside of our family and the phalanx of doctors and nurses who have treated her through two decades, she barely talks about her condition, especially not with her friends and classmates. It’s rare a child wants to be seen as different from her peers, and that is no different for a child battling a rare disease.
Someone else, though, has given a voice to people like my daughter.
Not long after our indulging in carbs and Chandler Bing’s antics, legendary rock guitarist Peter Frampton announced a farewell tour. The 68-year-old, best known for his 1970s megahit album Frampton Comes Alive, told the world his pending retirement is being hastened by inclusion body myositis, an adult variant of the rare disease my daughter has that is even less treatable and more damaging than her condition. It, too, has no cure.
IBM, as it is called for short, is a degenerative illness. It progressively weakens and lays waste to major muscles in the arms and legs. Worst for a skilled guitar player, it eventually affects strength and dexterity in the wrists and fingers.
Someone’s diagnosis with an incurable disease is never cause for celebration. However, Frampton’s prominence and openness with media and fans about his battle excites certain people. These are the doctors, researchers, caretakers and patients who have spent a significant portion of their lives dealing with or dedicated to conditions few others know about.
“I can’t begin to tell you how extraordinary it is and how generous it is on his part to reveal this,” Frampton’s doctor, Lisa Christopher-Stine, director of the Johns Hopkins Myositis Center in Baltimore, told the Global Genes website. “With rare diagnoses, we are all struggling to gain recognition for them in the public sphere. His disclosure brings potential funding, awareness and support. Not every disease has a celebrity spokesperson for it, but when it does, it accelerates progress exponentially.”
In addition to going public about the potential devastating effects of his disease, Frampton established a research fund bearing his name at the Hopkins center, one of a very small handful of medical facilities dedicated to these illnesses. One dollar from every ticket sold on his final tour will go to the fund, which is expected to receive many additional donations at a steady pace from fans, peers and many others during that June-to-October run, a Hopkins spokesperson told me.
As Frampton said about his diagnosis in a recent interview with CBS This Morning, “Look, it’s not life-threatening. It’s life-changing.” For my family, especially for my daughter, I hope his championing of the cause of myositis research does change many, many lives for the better. Her mother and I have spent much time and effort raising money and attention to the disease and its need for better treatments the past decade or so, but it will surely be a fraction of what a respected superstar like Frampton can bring the cause.
In the meantime, my daughter continues improving after the latest flare of JDM, a condition that once made it impossible for her to walk and almost impossible to swallow when she was a toddler. Her doctors are looking at tapering some of the many meds they had to reintroduce to her regime; she is looking forward to a spring season on her college’s tennis team. And, despite the many appointments, pills and IVs, she pretty much goes about her day as if she was any ordinary 19-year-old and not the rarity she really is.
Photo: Kevin McKeever