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What’s something you wish doctors knew about your life with SMA?
Explaining SMA to a doctor can sometimes feel like a never-ending conversation. There’s just so much to say about living with this disease. And I always wonder if I’ve covered it all.
What’s something you wish doctors knew about your life with SMA?
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9 Replies
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Ugh, my primary left, so I’ll be doing this soon. Honestly I never know what to tell them. What’s the most important thing you bring up?
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Oof. Not a fun transition. Because I have a full SMA team of doctors in Boston, I’m not too concerned with my PCP. If you have specialists, definitely let your new doctor know. That way, they can communicate with each other if needed while he or she is learning your case.
Another tip I have is to write everything you want to say in the weeks before your first appointment. Otherwise, there’s always something you’ll forget.
When are you meeting your new doctor?
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Hey Alyssa –
To me, it boils down to making sure the doctor doesn’t look at you as an SMA patient disguised in a human body, but rather a person living with SMA (among many other things). Just like interactions with folks who don’t, won’t, or can’t see beyond our condition, especially if you’re using a wheelchair, it’s the lazy view or discomfort that results in such a definition. It’s up to us to help them overcome that.
I had a PCP that had nothing to do with my SMA related care. I should preface this by stating I NEVER went to the doctor unless it was absolutely necessary. But, he was my wife’s PCP so after we married, she encouraged me to start going annually. I gave him the usual rundown, but also note that I was ambulatory at the time and not even using a cane or other assistive device. But obviously, my SMA was progressing (more labored walking, difficulty getting out of chairs, etc.). For my annual visit, the diagnosis code every time for over 15 years was, “Spinal Muscular Atrophy”. I dismissed this as either ignorance or just a need for insurance billing purposes. He had another doctor in the office I saw once for the flu or similar issue and I saw him as I was leaving. He said, “Hey Mike, how are the muscles? Still getting weaker?” I was astonished, angry, and so disappointed. I said, “Gee, doc, after being my PCP for almost 20 years, I would have thought you’d have pulled the PDR just once or Googled SMA. That’s kind of how this condition works. How can you not know that? I will never be back.”
I found another PCP and have been seeing him since 2015 when I started using a power chair. That means I went over 10 years without a PCP. The experience has been much better, but I took the time to lay out basic SMA related info on my first visit and he’s actively engaged and treats me like a person.
And I know we’re discussing PCPs, but just to show it’s not all been negative, while I was still ambulatory, I tried acupuncture with a traditionally trained acupuncturist. She and her husband had moved here from China and were both medical doctors. At the time (not sure if it’s different now) the US had requirements of several additional years of medical training to practice here in the States, but they had started a family, so they opened an acupuncture clinic (it was part of their medical training in China). Between my first and second appointment, she had done a ton of research, reached out to several former colleagues in China about SMA, and developed a comprehensive treatment plan for me. What a great experience!
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Spent most of my life without a PCP because my grandfather was a pediatrician. The doctor I saw most was the orthopedic surgeon to manage ongoing SMA symptoms. Around 18 I decided I was sick of doctors and was going to live my life.
I realized that having SMA did not exempt me from normal health issues. Found a PCP just before Covid to help me do all the baseline care like mammogram, dealing with UTIs, migraines, ect.
What do I wish doctors knew about being an SMA patient? We are highly sensitized to touch, comfort is an elusive goal. We are both smart and smart asses so your best approach is to convince us why you want us to do XYZ. The most important thing about anyone with chronic health issues is for doctors to return our agency. Long-term health problems, by design, take away a lot of choices from our lives. As my doctor you are one person on my team educated in the choices available so let’s work together to create the best outcome in my life.
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Explaining SMA to a doctor can sometimes feel like…I have to be my own researcher<font size=”4″>.</font>
<font size=”4″ style=””>Link discovered between Spinal Muscular Atrophy and liver damage</font>
Article Source: https://www.abdn.ac.uk/news/<wbr>23433/
<b style=”background-color: var(–bb-content-background-color); font-family: inherit; font-size: inherit; color: var(–bb-body-text-color);”>Link to Full Paper: https://www.jci.org/<wbr>articles/view/173702
08 August 2024 [excerpt]
A new multinational study has found, for the first time, that people living with the neurodegenerative condition Spinal Muscular Atrophy (SMA) are at a higher risk of developing fatty liver disease which can have serious long-term health consequences.
Fatty liver disease is a condition in which fat builds up in the liver causing inflammation and damage and is usually linked to heart conditions, diabetes and obesity. The presence of fatty liver disease in mild and severe forms of SMA can have serious long-term consequences for the health of SMA patients in childhood and adulthood.
The study revealed that the genetic mutation responsible for SMA reduces SMN protein levels in liver cells, impairing their ability to break down and use fat effectively. This finding explains the presence of fatty liver disease in SMA patients, which was detected in children as young as three years old through liver ultrasound scans.
Dr Yeo: “As individuals with SMA live longer due to improved treatment options, understanding the long-term effects of the genetic mutation on various organs becomes crucial for screening for previously unknown problems, developing effective treatment strategies and improving patient outcomes, such as survival and quality of life,”
The study is published in the Journal of Clinical Investigation.
https://pubmed.ncbi.nlm.nih.<wbr>gov/38722695/#full-view-<wbr>affiliation-1
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I wish they knew that the things I do aren’t cuz I need to be treated, like I am sick or something – it’s cuz I need to be proactive or use it as therapy. For example, when I ask for cough assist they ask if I am feeling okay or if I need an X-Ray and I’m like, No I am doing it for therapy to keep my lungs strong.
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@tracy-odell Fatty liver disease? Seriously?? we didn’t have enough challenges?
This is news to me, not something the SMA clinic even discussed.
I appreciate the information, but there really are moments where my brain just demands a timeout. Enough already. Unfortunately, you’re absolutely right, we have to be our own advocates for everything.
@survivivglife That kind of proactive self-care is so important to your physical and mental well-being. Anything that is within our power to do reinforces that we still have agency, choices.
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Acupuncture has been one of my primary tools for 25 years now, it’s changed how I approach my health on so many levels. Traditional Chinese medicine approaches well-being as a whole inclusive system while western medicine tends to compartmentalize. Only now am I seeing doctors look at physical, emotional and mental health as an integrated system.
At the end of the day, everything is connected.
Back to the original subject, I had a series of PTs who were… not good. Third person I worked with came back on his second visit after having done research about progression, achievable goals, specific issues to be focused on. Makes all the difference in the world when your caretakers meet you where you are.
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@susana-m Thanks for your message. I really liked acupuncture and how I felt. She applied a TENS unit to some of the needles for additional stimulation, which seemed to help. Unfortunately, they moved out of the area and I have not resumed this treatment, but your message resonated and has given me the nudge I needed to search for another traditionally trained acupuncturist. Thank you!
Yes, that kind of experience can make so much of a difference. I am fortunate in finding a PT about 10 miles from me that has a lot of experience with treating patients with NMDs, but specifically SMA; she’s worked with about 10 SMA patients between here in Maryland and previously in Ohio. I’ve been working with her since 2016 and see her for one clinic and one pool session each week.
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