{"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

Spinraza, on the other hand, enables the backup gene SMN2 to produce a little more extra SMN<\/a> for a few months.\u00a0 It doesn’t even try to fix the broken or missing SMN1; rather, it’s a workaround, a way to bypass the deficiency.\u00a0 That’s why recurring doses are necessary.\u00a0 This genetic detour only works for so long before petering out.<\/p>\r\n

So far, there isn’t enough clinical data on either one to make a totally fair comparison.\u00a0 As of this writing, Zolgensma has only been approved for kids age two and under.\u00a0 Spinraza is approved for just about everybody with SMA.<\/p>\r\n

Just For Kids?<\/strong><\/p>\r\n

A while back, I asked my neurologist if I was correct in assuming that Spinraza would not give me strength I never had.\u00a0 He confirmed it.\u00a0 It might prevent further muscle loss, or it might do me no good whatsoever.\u00a0 The same is probably true for Zolgensma; in fact, the press release plainly states it is “not a cure and cannot reverse any damage already caused by SMA before treatment.”\u00a0 But it’s certainly easier to take.\u00a0 For all but the smallest babies, it has to be injected into the spine, as does Spinraza, but at least it’s just one time.\u00a0 Even if it didn’t do me any good, it’s less of an investment.<\/p>\r\n

Let me qualify that.\u00a0 This single dose is priced at more than $2 million.\u00a0 It was quickly dubbed the most expensive medicine ever<\/a>.\u00a0 But over the long run, that’s still cheaper than Spinraza.<\/p>\r\n

Zolgensma does carry warnings of possible liver damage, though that’s supposed to be remedied by low-dose steroids.<\/p>\r\n

What about my abhorrence to the cure mentality\u2014my feeling that it’s tantamount to a betrayal of disability pride?\u00a0 If I’m to love myself as I am, I figured, then I don’t need or want to be fixed, to be made like other people. I believe in valuing my life as it is.\u00a0 I’m not waiting for medicine to make me complete.<\/p>\r\n

Yet I use all kinds of medicines to keep me alive and thriving.\u00a0 Wouldn’t it be foolish to turn down something that could keep me going longer?<\/p>\r\n

Staying Open-Minded<\/strong><\/p>\r\n

I have to be honest.\u00a0 Even in my current decrepit state, I could grow weaker. \u00a0I can’t feed myself, I drive my wheelchair with an ultrasensitive lip-controlled mini joystick, and I need hands-on assistance throughout the day.\u00a0 Nevertheless, it could become harder to breathe or swallow or talk, for instance.\u00a0 That would suck.\u00a0 I don’t want or expect to start running marathons, but I’d like to be able to keep chattering and chomping Cheetos.\u00a0 Disability is a huge part of my identity.\u00a0 It’s part of my profession.\u00a0 I don’t know who I’d be if I lost it.\u00a0 But if a one-time magic injection can help me maintain my current status, why not try it?<\/p>\r\n

For now, I’ll wait and see. If Zolgensma is approved for people my age, and it’s shown to be effective with manageable side effects, I’m open to considering it. If that doesn’t happen, I won’t be too disappointed either. After all, I’m pretty satisfied with my life as it is.<\/p>\r\n

###<\/p>\r\n\r\n\r\n

\"BenOur special contributor Ben Mattlin<\/strong>, was born with spinal muscular atrophy (SMA), a congenital muscle weakness that causes paralysis and related health issues. A highly regarded writer, Ben\u2019s work has appeared in \u201cThe New York Times,\u201d \u201cThe Washington Post\u201d and \u201cUSA Today.\u201d He lives in Los Angeles with his wife and children.<\/em><\/p>\r\n","protected":false},"excerpt":{"rendered":"

I was born before my disability could be diagnosed. \u00a0Now I’m told it can be cured.<\/p>\n","protected":false},"author":69,"featured_media":242075,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[],"tags":[5143,5618,5438,7497,11350,6802,6400,5900,11349],"acf":[],"_links":{"self":[{"href":"https:\/\/facingdisability.com\/wp-json\/wp\/v2\/posts\/242073"}],"collection":[{"href":"https:\/\/facingdisability.com\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/facingdisability.com\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/facingdisability.com\/wp-json\/wp\/v2\/users\/69"}],"replies":[{"embeddable":true,"href":"https:\/\/facingdisability.com\/wp-json\/wp\/v2\/comments?post=242073"}],"version-history":[{"count":0,"href":"https:\/\/facingdisability.com\/wp-json\/wp\/v2\/posts\/242073\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/facingdisability.com\/wp-json\/wp\/v2\/media\/242075"}],"wp:attachment":[{"href":"https:\/\/facingdisability.com\/wp-json\/wp\/v2\/media?parent=242073"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/facingdisability.com\/wp-json\/wp\/v2\/categories?post=242073"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/facingdisability.com\/wp-json\/wp\/v2\/tags?post=242073"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}