An open letter to doctors who aren’t familiar with limb-girdle MD

Dear doctors,

I am writing to share my knowledge about living with a rare, chronic condition called limb-girdle muscular dystrophy. There are many types of muscular dystrophy (MD), ranging in age of onset, severity, and common symptoms and comorbidities, such as heart and lung involvement. But regardless of the type, MD’s social, emotional, and mental impact can add to the burden both patients and their loved ones face.

You may have read about MD at some point in medical school, or perhaps you learned about the condition through articles in peer-reviewed medical journals about ongoing clinical trials. While some providers do specialize in treating neuromuscular diseases such as MD, many others have likely forgotten most of what they’ve read about the condition. That’s OK.

Doctors are human, and most of you have likely experienced job fatigue, stress, and information overload. It’s not possible to recall every rare disease, especially if you’ve never treated someone with a particular condition.

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In my experience, most patients and their families are comfortable explaining the specifics of limb-girdle MD and how they deal with every challenge and triumph. Please speak with the patient’s siblings, parents, and caregivers. They will paint a full picture and offer more insight than internet searches, artificial intelligence software, and colleagues who haven’t met anyone living with MD.

Please also understand that you are treating the patient, not the disease. It’s important to learn about a person’s quality of life, risk vs. reward tolerance, disease stage, and medical history. I am not a page in a medical book but a human who has accepted my rare disease as part of my identity. My condition needs to be managed, not solved.

Finally, and most importantly, if you’re not familiar with MD, please know that there are pediatric and adult MD experts around the world who are more than happy to consult with healthcare providers. The patient and their family are likely already in touch with an expert and may even travel to an MD clinic site a few times each year. Learn who those doctors are. Call or email them and introduce yourself.

If you are a family doctor, keep in touch with the expert MD care team and share all health charts and medical records.

If you work in an emergency room or intensive care unit, it is likely that the patient or their family will bring along a binder full of useful information. Trust them, speak with them, and call experts who work with MD patients. They will help you find and learn the best ways to treat the patient. In a crisis, teamwork and trust can and do make a difference between life and death.

I wouldn’t be able to write this letter to you today if doctors hadn’t done these things for me. If not for my wife, family, friends, and ICU providers willing to reach out to global experts, I likely wouldn’t be alive today.

I hope you’ll remember this letter the next time you encounter a rare disease patient. Please share it with your colleagues so that these practices may become common medical knowledge.

Sincerely,

Patrick

Note: Muscular Dystrophy News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Muscular Dystrophy News Today or its parent company, Bionews, and are intended to spark discussion about issues pertaining to muscular dystrophy.