Healio: Rare Disease Day highlights progress, unmet needs in neurology

By Madison Weller

The timeline to diagnosis for a rare disease can take years, and “even after a proper diagnosis, treatment often is unavailable, because only about [5%] of rare diseases have a treatment approved by the FDA,” according to the Rare Disease Day website.

In neurology, rare disorders are a “frequent” consideration for pediatric patients with developmental disabilities or epilepsy. Improvements in the medical community’s knowledge and better tools for genetic testing have enabled clinicians to diagnose some of the rarer disorders in neurology. 

Healio Neurology spoke with Tomi Pastinen, MD, PhD, director of the Genomic Medicine Center at Children’s Mercy Kansas City, and Ahmed T. Abdelmoity, MD, FAAP, FAES, director of the division of neurology at Children’s Mercy Kansas City, about the barriers and unmet needs that impact pediatric patients with rare neurological diseases.

Healio Neurology: What barriers to diagnosis or treatment do pediatric patients with rare neurological diseases face?

Pastinen: In rare disease molecular diagnosis, the barriers include access to tertiary care (ie, providers that order molecular tests), insurance reimbursement for genetic testing in some cases and overall low sensitivity for suspected genetic disease (with an estimated 30% yield) in clinical genetic testing. Understanding the contributors for missed diagnosis is complicated by inaccessible tissue, unlike in some other disease (eg, kidney disease) and you are limited in your ability to look for changes directly in the tissue, since you cannot take brain biopsies. Finally, the root cause for some diseases may have occurred in the past (early in the development) and this can hamper studies that aim to understand the mechanisms or to develop targeted therapies.

Abdelmoity: In addition, a number of specific diseases have similar presentations and symptoms that can be shared among many conditions, rendering a financial challenge for obtaining multiple tests to find a specific condition. For example, certain movement disorders and epilepsy syndromes can share some similar features.

Read the full interview via Healio

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