2022 MDA National Ambassador; Patient with Bethlem myopathy

Amy Shinneman

“Before I was diagnosed, I felt like I didn’t fully know myself, and the day I was diagnosed, I felt like I was formally introduced to myself—at 44 years old. Not everyone waits 44 years for a diagnosis, but a lot of people wait a really long time. Those years are long, and you don’t really stop thinking about it. It’s always in the back of your mind.”

Each year, the Muscular Dystrophy Association (MDA) selects national ambassadors to represent the thousands of people living with neuromuscular disease and inspire the community through their personal stories. At the 

2022 Muscular Dystrophy Association (MDA) Clinical and Scientific Conference

, March 13-16, in Nashville, Tennessee, one such ambassador was part of the keynote address: Amy Shinneman, a patient with Bethlem myopathy. She spoke at the opening ceremony of this year’s meeting and presented the first annual MDA Legacy Award for Excellence in Clinical Research to Carsten G. Bönnemann, MD, senior investigator, Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS.

Shinneman, a patient with Bethlem myopathy, a form of muscular dystrophy, shared her story and journey as a patient at the meeting, detailing the long wait of 44 years for her diagnosis despite symptom onset occurring at birth. Her diagnosis came in 2018, after undergoing genetic testing for her disease, which has an incidence rate of just 0.77 per 100,000 individuals.

In addition to increasing the patient role in decision making and conversations about treatment, there has been a push in recent years to increase newborn screening and cut down on diagnosis delays. Shinneman sat down with 

® at this year’s meeting to offer her insight into her experience with diagnostic delay and its impact on her life. She also shared her thoughts on the importance of the physician-patient relationship and how effective communication between the two can improve the paradigm of clinical care.

REFERENCES
1. MDA Names Indianapolis Resident, Amy Shinneman as 2022 MDA National Ambassador, Raising Awareness for People with Disabilities in the Neuromuscular Community. News release. MDA. January 31, 2022. Accessed March 14, 2022. https://www.mda.org/press-releases/mda-names-indianapolis-resident-amy-shinneman-as-2022-mda-national-ambassador-raising-awareness-for-people-with-disabilities-in-the-neuromuscular-community
2. Collagen VI-related myopathy. Medline Plus. NIH. Revised November 24, 2021. Accessed March 14, 2022. https://medlineplus.gov/genetics/condition/collagen-vi-related-myopathy/

Videos

The 2022 MDA National Ambassador and patient with Bethlem myopathy spoke to the critical need to improve diagnosis delays in neuromuscular disorders and effective communication between patients and their physicians. [WATCH TIME: 2 minutes]

Diagnostic Delays and the Importance of the Physician-Patient Relationship: Amy Shinneman

“When you live with a disability, a lot of things can feel outside of your control, and I think [shared decision-making] is one thing where we’re able to use our voice to tell doctors our needs, and they are, in turn, able to give us their expertise. Together, that helps us to get answers quicker and to see the full picture.”

In recent years, the medical community has made a push to further incorporate patients in the care paradigm, increasing their role in the shared decision-making process for their care, and elevating their voices when developing and choosing scales that measure the clinical benefits of therapy. This practice has been at the forefront in the rare disease community, and the Muscular Dystrophy Association (MDA) has been among the top organizations in terms of promoting patient voices.

Each year, MDA selects national ambassadors to represent the thousands of people living with neuromuscular disease and inspire the community through their personal stories. At the 

, March 13-16, in Nashville, Tennessee, one such ambassador, Amy Shinneman, spoke at the opening ceremony of this year’s meeting and presented the first annual MDA Legacy Award for Excellence in Clinical Research to Carsten G. Bönnemann, MD, senior investigator, Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS.

 at this year’s meeting to offer her insight into the patient experience in the neuromuscular disorder field and the importance of including the patient voice at medical meetings such as MDA 2022. Shinneman also authors a blog, "

," where she shares new posts weekly documenting her experiences living with a disability all her life and how she strives to live life to the fullest.

The 2022 MDA National Ambassador and patient with Bethlem myopathy spoke to the importance of including the patient perspective at medical meetings to improve the care paradigm in neuromuscular disorders. [WATCH TIME: 3 minutes]

Amy Shinneman

Articles

Diagnostic Delays and the Importance of the Physician-Patient Relationship: Amy Shinneman

The Need to Elevate Patient Voices in Neuromuscular Disorders: Amy Shinneman

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