An Undiagnosed Diseases Expert Shares Her Perspective

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by Claire Richmond |

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My 19-year journey to an acute hepatic porphyria (AHP) diagnosis was fraught with misdiagnoses and traumatic misunderstandings. Sadly, it is not a unique story within the rare community. This column is dedicated to those with mysterious symptoms, who are in the thick of searching for answers. Don’t lose hope.

Meghan Halley dedicates her life to rare and undiagnosed diseases. The second of her three children, 6-year-old Philip, lives with unexplained medical issues. After Philip enrolled in the Undiagnosed Diseases Network (UDN), Meghan became involved in patient advocacy. She serves as co-chair of the UDN Participant Engagement and Empowerment Resource (PEER). As a medical anthropologist, she researches questions related to rare and undiagnosed diseases at Stanford University’s Center for Biomedical Ethics.

Meghan and I met in June, when we co-hosted a virtual discussion group about the diagnostic journey for the National Organization for Rare Disorders’ Living Rare, Living Stronger conference. I knew right away that her unique perspective on obtaining a diagnosis, genetic testing, and living undiagnosed needed to be shared with the porphyria community.

Following is an interview I recently had with Meghan via email.

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CR: First and foremost, thank you for all you do! Let’s start with “Dr. Google,” who’s the initial consult for many who are experiencing mysterious symptoms. It’s easy enough to stumble upon porphyria online, but finding a knowledgeable local provider is tricky. Can you speak to the challenges of diagnosing rare disease when providers can’t see or measure symptoms?

MH: I let out a big sigh when I read your question — it’s a common and devastating problem. Unless physicians have training or clinical experience in rare disease, many patients find themselves dismissed or distrusted, especially when the symptoms are considered “subjective.” I hate that term, because it implies that immeasurable symptoms are somehow less valid.

Here’s where patient communities can be valuable. It amazes me how often I hear that a patient recognized another person’s story on social media, and it helped them find a path forward. Also, if you know the type of specialist you need to see, you may find someone who’s knowledgeable about a condition, and therefore less likely to be dismissive.

Clinical test results may show indicators of AHP, but due to inaccessibility and providers’ general misunderstanding, a genetic confirmation is harder to receive. Can you speak to how this problem is being addressed in the rare community?

Access to genetic testing is a huge issue. Barriers include physician understanding, a lack of genetic counselors, issues with reimbursement, etc. At the federal level, legislation is in the works to expand access for a limited segment of the rare community. Some states (Alabama, for example) have more robust genetic testing programs available to residents.

Another option is going straight to the companies that do genetic testing. For example, Invitae and Probably Genetic may be costly and require a doctor’s order. I am hopeful the UDN will help shorten the diagnostic odyssey as it works to increase genetic testing access for a broader swath of rare patients.

Despite what we know of testing, some people with suspected AHP are never able to receive a confirmed genetic diagnosis. Can you speak to the value of a confirmed variant and how undiagnosed patients may be treated differently?

This is really interesting to me, and one of the things I am examining in my research. Though our knowledge of genetics is expanding rapidly, we have only scratched the surface. However, technological advances have both intended and unintended consequences. While identifying a gene explaining a subset of a given condition may be beneficial to those with that subtype, there is some evidence it may amplify barriers to care for those who have a nongenetic, or not yet identified genetic, subtype.

Inadvertently, the definition of a “valid” diagnosis may shift from a clinical one to a genetic one, even though the clinical diagnosis remains valid. This issue is important for genetic counselors to understand, so they can help patients, families, and healthcare providers.

If I’m undiagnosed, what advice or resources do you have?

We are identifying new rare genetic mutations all the time, over 200 last year alone. The results of a genetic test, particularly an exome sequencing test, done five years ago may not match the same test today. A medical geneticist can reanalyze previously generated exome data to see whether an identified mutation was previously not well-understood or recognized.

It is a tough road. Fortunately, there is increasingly a recognition of “undiagnosed” as a valid status for some patients, albeit not an ideal one. The UDN is a great place to start, and there are increasing numbers of clinics around the country that focus on rare disease diagnosis. The PEER group is hoping to publish a resource repository with a comprehensive list by the end of this year.

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Note: Porphyria News 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 other 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 Porphyria News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to porphyria.

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