sma care team

Surgery and a feeding tube helped me rebound from weight loss that was affecting my breathing. Could better communication between my care team members have helped me avoid the feeding tube altogether? 

Often, when I tell people I have spinal muscular atrophy (SMA), they’ve never heard of it, whether they’re health care professionals or not. Since this is my first column, I thought I should start by sharing my story.

SMA is a genetic neuromuscular disease in the muscular dystrophy family. I was diagnosed around the time I turned 1 year old. This was before easy genetic testing was available, so I had a muscle biopsy, and still have the scar on my thigh to prove it. I got my first power wheelchair when I was 2 years old; I was never able to walk or crawl. I am now 32, and In addition to the power wheelchair, I also use a feeding tube and ventilator at night, and have a CoughAssist. Packing for vacations is fun!

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Just like my life with SMA comes with lots of assistive equipment, it also comes with lots of visits to doctors and specialists. Throughout my life, I’ve seen: a primary care physician (PCP), a pulmonologist, a gastrointestinal doctor, a neurologist, a dietician, an orthopedic surgeon, and a genetic counselor. I’m honestly not even sure that’s the full list; I can’t remember every specialist that I saw as a child. It’s a long list, because SMA affects so many different parts of my body. When things are going well for me health-wise it’s not too much of an issue. It’s a lot of doctor’s appointments, but nothing I can’t handle.

When things aren’t going well, it’s a different story. Typically, when I’m having health issues, they quickly worsen. And, nothing happens in isolation. What might start as a simple cold can easily and quickly turn into pneumonia, and it’s really important that I act preemptively so that I don’t end up hospitalized. And that’s for something simple and straightforward. It’s relatively easy when it’s something that I’ve experienced before, and I’m able to coordinate on my own.

In Search of a Diagnosis: Severe Dyspnea and Heart Palpitations

Sometimes, though, the issue at hand is neither simple nor straightforward, and isn’t something I’ve encountered before. A little less than 10 years ago now, I suddenly started experiencing extreme episodes of shortness of breath when I was sitting in my wheelchair. When I tilted back in my chair or laid down, I felt OK. But when I was sitting, my heart would start to pound and race and I’d struggle to get a deep breath. This went on for months without me knowing what was going on, and it really impacted my life. Having to stop what I was doing and tilt back in my wheelchair for 30 minutes at a time would disrupt whatever I was doing. It was also really scary to not know what was happening to my body!

I saw doctor after doctor, and became a pro at telling my medical history related to this issue. After many visits to different specialists and my PCP, we came to the conclusion that I had inadvertently lost too much weight, and my body was expending more calories just trying to breathe and get through the day than I could take in. It was great to finally have an answer, but it came too late for me to have any success gaining the weight back. So, I ended up having surgery to get a feeding tube.

I’m very grateful, in the long run, for the feeding tube. It improved my quality-of-life within a week, and I was easily able to gain back the weight that I had lost, plus some. I’m also really grateful for my PCP, who never gave up and continued to search for answers and solutions. But, I can’t help but think that this could have been avoided.

I spent a great deal of time speaking with specialist after specialist, relaying the same story, only to have them focus on the symptoms that were relevant to their area of practice, and leave me without any meaningful solution. There was never any communication between specialists, no “meeting of the minds” to try to put all of the puzzle pieces together. Had more communication between health care providers happened, maybe we would’ve figured out what was going on with me much sooner. It’s something that I’ll never know.

This is just one rather glaring example, but it’s one of many. Coordinating my medical care can feel like a full-time job in and of itself, and I already have one of those. I don’t want to have to retell my medical history to provider after provider, and I get tired of relaying information from one provider to another, especially when they work within the same health system.

Communication between providers needs to become more common. This isn’t to say that as the patient, I should be left out of the conversation, but I shouldn’t have to be the messenger. Improving communication will also improve my care and quality-of-life, and I’m very eager to see that happen.