RARE Daily

Sometimes the Pen Is Mightier than the Spreadsheet

May 20, 2020

Much is made about the critical role patient registries can play in providing researchers and clinicians with an understanding of rare diseases, matching genotype to phenotype and elucidating the range of ways a given genetic mutation can give rise to varied symptoms in small patient populations.

Sometimes, though, significant efforts to capture patient experience, when reduced to quantifiable data, may provide little insight. Instead, it can be the voice of the patient that’s needed to carry the weight of the numbers.

When I scanned through a recent paper based on data and perspectives from patients and families from the Mitochondrial Disease Community Registry at the end of March published online in Mitochondrial and Metabolic Medicine, I read the abstract and conclusion, flipped through the charts, and put it aside as not being that useful. But when I recently had a chance to pick it up again and read through it, what was striking were the comments from participants in the survey.

The paper, written by Sophia Zilber and Philip Yeske, was based on four years of data from adult mitochondrial disease patients and caregivers of pediatric mitochondrial disease patients. Mitochondria are the powerhouse of the cells and mitochondrial diseases include a range of rare, genetic conditions that can affect the ability of mitochondria to do their job.

Zilber lost a child to Leigh syndrome, a mitochondrial disease. She is a statistical programming lead at Pfizer but did this work as a volunteer. Yeske is science and alliance officer at United Mitochondrial Disease Foundation, which runs the registry on which the study was based.

The analysis includes data from 2,223 participants. The authors note it is the largest study of patients with mitochondrial disease and the first to examine patients’ opinions and perspectives in their own words. Data from 1,428 of these participants were available for analysis. They did not need to have a diagnosis confirmed by a genetic test to participate.

At the heart of the paper is a response to the question “What is the most important thing that patients want scientists and physicians engaged in research for mitochondrial disease, as well as drug approval agencies such as the FDA, to know.”

The authors sorted and categorized more than 1,000 text responses. Not surprisingly, they found the top concerns included frustrations patients had with their interactions with doctors and the medical system, the need for treatments and cures, and the impact of the disease on their quality of life.

But it’s the comments the authors included in the paper that bring to life the patient voices. Though it is drawn from the mitochondrial disease community, it echoes sentiments likely felt in the broader rare disease community.

While the participants were generally optimistic about the development of potential treatments and cures, the comments reverberate with frustration, isolation, and suffering. Among the comments, participants wrote:

Every healthcare professional I have seen, I have had to educate about my disease and mito in general.”

“I explain the history and several doctors have no clue what I’m talking about and have little idea what to tell me.”

“Most of us feel that a lot of doctors think we make our symptoms up and do not believe us. We feel isolated and alone to deal with our disease.”

“It has bankrupted me financially, emotionally, spiritually, and mentally. It has robbed me of my virility, which may be worst of all.”

Though doctors versed in rare diseases will recognize these feelings from patients, reading through the comments would be a useful exercise for physicians in general practice to sensitize them for when they come across a patient whose symptoms are not easily explained and treated.

I admit, as a writer, I have a predisposition to words. As powerful as data can be, it has its limits. Sometimes certain things can best be learned by listening to patients.

Photo: Paper co-author Sophia Zilber holds a photograph of her daughter Miriam, who died from the mitochondrial disease Leigh syndrome

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