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What it Means When a Rare Disease Gets an FDA-Approved Drug

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Yesterday was such an exciting day for those of us who live with Lambert-Eaton myesthenic syndrome (LEMS). Catalyst Pharmaceuticals gained approval for the first approved treatment for LEMS, Firdapse.

What does this mean when you have a rare disease?

This means doctors are more likely to have heard of your rare condition that affects one in a million people. Usually, this is not the case for rare diseases. I’ve been the educator for most of my providers, as they have said themselves: “Well, I’ve only read a paragraph about it in medical school.”

This means that neurologists will consider LEMS as the possible cause to the unidentified neuromuscular symptoms a LEMS patient is experiencing much faster. Many patients, including myself, went through years of debilitating symptoms prior to diagnosis. Hopefully, LEMS patients will no longer have to wait this long for a diagnosis and will be able to have a treatment prescribed. Trials are hard to access and oftentimes not known to patients. Thank goodness the trials were successful, and now all LEMS patients can benefit from a treatment.

Having a treatment means our invisible illness is now visible in the form of a drug and will help give us our quality of life back. Prior to having a treatment, some LEMS patients lose the ability to walk, to swallow or breathe. For others, it’s not as severe, but it consists of years of debilitating, unexplained weakness and exhaustion. Some, like me,  go undiagnosed for so long that the disease progresses to a severe state. This makes it harder to manage and a more intensive treatment is needed.

the author and her friend holding a sign about strength for LEMS

This approval opens up the world of diagnosis and treatment of LEMS to everyone, not just those with doctors who won’t stop until they find the answer to what is causing your symptoms. Some doctors do stop. Some doctors think it’s all in your head. Then, sometimes you wonder yourself if it is in your head. Once diagnosed, the relief a patient feels for knowing what is behind the weakness and numbness is amazing, despite being told you have this very rare illness that most doctors will never see. Having a diagnosis means knowing that at least there’s a reason behind the symptoms.

There are always nerve-wracking questions about insurance coverage and gaining access to the medication once approved. However, I have faith that the work has been done for patients to access Firdapse. If we can’t, then why would a company put so much work into gaining approval? Our access will equal their success.

This is a brand new chapter in the very small book of LEMS. We are few, but we are mighty. Now that a drug to treat our very rare disease is FDA-approved, all LEMS patients will have a weapon in their arsenal against this debilitating neuromuscular disease.

Originally published: December 1, 2018
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