{"id":242073,"date":"2019-06-19T14:09:40","date_gmt":"2019-06-19T14:09:40","guid":{"rendered":"https:\/\/facingdisability.com\/blog\/?p=242073"},"modified":"2019-06-19T21:24:50","modified_gmt":"2019-06-19T21:24:50","slug":"sma-and-me-to-cure-or-not-to-cure-that-is-the-question","status":"publish","type":"post","link":"https:\/\/facingdisability.com\/blog\/sma-and-me-to-cure-or-not-to-cure-that-is-the-question","title":{"rendered":"SMA and Me: To Cure or Not To Cure, That is the Question"},"content":{"rendered":"\r\n
Editor\u2019s Note: It\u2019s a common theoretical question: \u201cSuppose they suddenly found a cure for your disability? \u2014 What would you do?\u201d\u00a0 Our special contributor, Ben Mattlin, is currently grappling with that very question\u2014and it\u2019s not theoretical.<\/em><\/p>\r\n\r\n\r\n I was born before my disability could be diagnosed. \u00a0Now I’m told it can be cured.<\/p>\r\n I’m not a science guy, but I do like solving mysteries.\u00a0 My disability was a mystery for many years.\u00a0 I was born in the early 1960s, when few people (if any) had heard of spinal muscular atrophy (SMA).\u00a0 I’m not even sure the term existed yet, though I understand that a related congenital neuromuscular weakness was first recognized in the 1890s.<\/p>\r\n\r\n\r\n <\/p>\r\n\r\n\r\n Little Understood for 100 Years <\/strong><\/p>\r\n Still, SMA remained little understood and difficult to identify for most of the next century.\u00a0 In the go-go 60s, I was officially dubbed a “floppy baby”\u2014i.e., I couldn’t sit unassisted.\u00a0 I crawled some, but never stood or walked.\u00a0 My weak muscle tone was also described as “amyotonia.”<\/p>\r\n But in the 1990s, a Dr. Judith Melki and her team found a genetic marker for SMA, which made diagnosing much easier.\u00a0 A simple blood test can show if you carry a gene called survival motor neuron 1 (SMN1).\u00a0 When it’s missing or compromised, your body doesn’t produce the SMN protein that enables muscle-building messages to transmit to and from the brain.\u00a0 This is the gene component I lack.<\/p>\r\n The good news is, there is also a backup gene called SMN2.\u00a0 It can provide some extra SMN protein, and I have three copies of it.\u00a0 So the extent and\/or speed of my muscle deterioration is somewhat mitigated.<\/p>\r\n Confused?\u00a0 Scientists were too, until recently.\u00a0 It’s a rare condition, I was always told, affecting one in every 6,000 to 10,000 people worldwide.\u00a0 But it’s now thought that one in 40 is a carrier without showing symptoms.\u00a0 If two carriers mate, their offspring have a 50-50 chance of developing SMA.<\/p>\r\n Two New Treatments <\/strong><\/p>\r\n There is not much money in treating rare diseases, and for most of my life there was absolutely nothing for SMA.\u00a0 You could help ease symptoms, such as by using ventilators and nebulizers to ease breathing difficulties (or, for that matter, wheelchairs to enable mobility).\u00a0 These methods have prolonged many lives.\u00a0 But SMA itself was unstoppable.<\/p>\r\n Then, in late 2016, the FDA approved Spinraza<\/a>.\u00a0 Developed by Biogen and Ionis Pharmaceuticals, this amazing new drug was purported to be stopping muscle atrophy and saving babies’ lives!\u00a0 People my age were ecstatic as well, because even if it didn’t give them back any muscle tone (you can’t revive dead nerves cells), Spinraza was touted to stop further progression.<\/p>\r\n Forgive me, but I was not impressed.<\/strong><\/p>\r\n I had serious misgivings about the new drug’s promise.\u00a0 Not that I questioned the science, which I didn’t fully understand anyway.\u00a0 But given the risk of possible side effects\u2014principally, kidney toxicity\u2014and the fact that drug approval had come in less than three months under \u201cpriority review,” raising doubts about long-term complications; and given my basic comfort level with my disability\u2014after 50-some years, I’m pretty used to it\u2014and the likely possibility that it wouldn’t do me much good at this point anyway, I wasn’t particularly interested.<\/p>\r\n It was also a major commitment.\u00a0 It has to be injected into the spine several times a year for the rest of your life.\u00a0 Though deals were quickly ironed out between the pharmaceutical manufacturers and insurance providers, the first year can cost $750,000, then about $375,000 annually thereafter.<\/p>\r\n Zolgensma<\/strong><\/p>\r\n I took some flak for my views, published in The New York Times<\/em>.<\/a>\u00a0 Many friends and allies were using Spinraza and loving it.\u00a0 Then, not long ago, a new scientific breakthrough caused me to rethink my anti-cure mindset.<\/p>\r\n The Wall Street Journal was the first I saw to report on a new gene therapy called Zolgensma<\/a><\/em>.\u00a0 Made by AveXis, a Novartis company, it’s touted as having “potential to cure spinal muscular atrophy.”\u00a0 Cure, not treat.\u00a0 That got my heart to go pitter-pat<\/em>.\u00a0 I knew it was probably hype, but still.\u00a0 This needed further investigating.<\/p>\r\n How is Zolgensma<\/a> different from Spinraza?\u00a0 Mayer Winkler, writing in Seeking Alpha<\/em>, explained the distinction<\/a> this way: “Will it be the ‘Rent-a-Gene’ model of Spinraza that manipulates existing genetic code but which requires lifetime maintenance, or will it be the ‘Buy-a-Gene’ model of Zolgensma that places new genetic code into patients and fixes the problem with one treatment?”<\/p>\r\n A One-and-Done Fix?<\/strong><\/p>\r\n The appeal of a one-and-done fix is what grabbed me the most.\u00a0 Zolgensma apparently injects the genetic code for functional SMN1 directly into the malfunctioning motor neurons.\u00a0 This makes them start producing the SMN protein by themselves, which is what we SMAers lack.\u00a0 Problem solved.<\/p>\r\n