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SMA Awareness Month

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From Mark:

If you’ve been following our journey over the past 7+ years, you likely know by now that August is Spinal Muscular Atrophy (SMA) Awareness Month. For others, well, it is.

SMA BASICS

SMA is a genetic degenerative neuromuscular disorder causing severe muscle weakness affecting the ability to move, swallow, and even breathe. The most common form of SMA is the most severe: Type 1, meaning affected children have never been able to sit unassisted. 

As the spinal motor neurons gradually fail, those affected become effectively paralyzed and lose the ability to eat by mouth within the first nine months of life.

SMA is the #1 genetic killer of young children. 1 in 40 carry the SMA gene. The typical life expectancy is only age 2. There is no cure.

GETTY’S STORY

After being told in 2010 that Getty has SMA and that she would likely not live to see her second birthday, our visions of what her life — our lives — would be shattered.

Devastated, we vowed to fight for her quality of life understanding that as long as she continued to smile, we would continue to fight. Some day she may let us know that she’s no longer happy and we can’t fix it, but until that day comes, we lovingly fight for her every day.

We made the most of the 2 years we thought we were given. With the help of the SMA community, we learned doctors can be wrong — very wrong — about SMA care. We adopted SMA protocols and fought for different care options, some of which her doctors weren’t willing to provide at first. We had to find and present our own medical research to her doctors and appeal some medical denials. We won those battles to get Getty what she needed.

Those two years with Getty have now become seven. Today, Getty is very happy and healthy, despite the limitations imposed upon her by her condition. She’s about to start second grade, attending school remotely from home using a V-Go classroom telepresence robot. 

She’s bright, smart, and sassy. We feared teachers might not want to accommodate her and her classmates might not want to associate with her, but so far, the complete opposite has been true. They love Getty, and she loves them back. We are very appreciative.

This journey is fulfilling but hasn’t been, and still isn’t, easy. We operate under strict SMA and cleanliness protocols every minute of every day. This also means we provide Getty a couple of hour-long mechanical cough treatments daily, make her a special blend of amino acid liquid food, put her in orthotics and slings, change diapers, carry her to bathe, roll her wherever she needs to go, bring a small hospital setting with us whenever she leaves the house, and we do our best to bring her the world. Thanks to these protocols, Getty has been sick with a cold only once in 7 years (Summer 2011).

Respiratory, nutrition, and mobility battles consumed the earlier years, then we had to overcome some education hurdles. Having secured her needs pretty well in these areas, our focus is shifting to her Spinraza treatments and her communication needs.

SPINRAZA (NUSINERSEN)

In December 2016, the FDA approved the first ever drug as a treatment for SMA. This has been fantastic news offering new hope to our community. 

Basically, Spinraza works by causing the SMN2 “backup” gene to make more high quality SMN proteins that are lacking in those affected by SMA. More quality SMN protein means more strength.

SMA is degenerative, causing progressive muscle weakness, because motor neurons die off due to a lack of quality Survival Motor Neuron (SMN) proteins. Early intervention with Spinraza is key because while Spinraza may prevent loss of existing motor neurons, which would serve to maintain existing strength, Spinraza will not revive motor neurons already lost due to SMN protein deficiency and SMA progression.

Spinraza is fantastic for newly diagnosed families! The question remains how much Spinraza can help “older” patients, like Getty, who have already lost motor neurons.

Getty started Spinraza treatments, which consist of a lumbar puncture to administer 4 initial loading doses of Spinraza into the spinal fluid, then ongoing additional treatments of maintenance doses once every 4 months.

Since starting Spinraza, Getty has had more strength and mobility in her fingers, hands, wrists, hips, ankles, and jaw. It’s thrilling to see her move in ways she hasn’t moved in years! 

Our most basic hope is to simply halt SMA progression. If she can just maintain her current strength, we would be delighted. Anything above that is a bonus. We are eager to see where these treatments might go, not only for Getty but the entire SMA community!

One problem area with Spinraza is that doctors and insurance carriers might not see “stopping progression” as “enough” to warrant continued treatment at $125,000 per dose. Stay tuned!

Many providers and carriers unfortunately have been denying treatments, forcing patients and parents to fight insurance appeals. Thankfully, so far, Getty has been receiving treatments and showing improvement!

COMMUNICATION

Getty is unable to articulate words very well due to a lack of muscle control of her mouth. We can tell her mood and figure out generally what she wants through her facial expressions and eye movements. She can also use her eyes to make binary choices as she is able to look at one thing or another to choose between them.

She has a Tobii eye gaze computer, which is fantastic, but nobody to date has been able to train us how to properly use it to advance an appropriate curriculum for her. We want to incorporate it into her life as a meaningful communication tool.

This device uses sensors to track her eye-gaze and convert those eye movements into computer mouse functions, like clicking on icons. The computer can then turn those eye movements and commands into words and sentences.

If we can get this Tobii thing going, then Getty will be able to use it to fully express herself, and we can get a much better idea of what thoughts are really rattling around in her seven-year-old brain. This would remove a lot of the guesswork at to what she is really trying to say with her eyes and vocalizing hoots. We’d love to have full conversations with her!

CANDLE LIGHTING

Please join us tonight, the second Saturday of August, by lighting a candle at 8 p.m. your local time to remember and honor all SMA warriors and angels. Please help spread the word about SMA and encourage those considering children to ask their doctors about genetic testing. 

Thank you and have a great SMA Awareness Month!

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