Innovation Brings Rare Disease Patients Tears of Joy

February 10, 2022

By Johana R. Fajardo, DNP, ANP-BC

I walk with many amyloidosis patients throughout their journey, from diagnosis to end of life.

Amyloidosis is a rare disease caused by an abnormal protein, called amyloid, that accumulates in different organs. Some patients have better prognosis and life expectancy based on their type of amyloidosis and their access to novel therapies.

Primary Systemic Amyloidosis

Patients with primary systemic amyloidosis, which is also called light chain disease or just “AL,” will live less than 18 months without treatment. It occurs when the bone marrow produces abnormal proteins that misfold and travel through the blood stream. It is similar to multiple myeloma, and it is treated much the same way – with chemotherapy. Some patients may also be candidates for stem cell transplantation, which improves their survival.

Just last year, a monoclonal antibody used to treat blood cancer became the first FDA approved treatment specifically for AL amyloidosis. Other novel medications are being tested, but it is difficult to make progress because patients are often too sick to participate in clinical trials. These patients desperately need breakthroughs in diagnostic tools and disease-specific treatments.

Transthyretin Amyloidosis

In contrast, patients with transthyretin amyloidosis, which is often abbreviated as “ATTR,” may have a better outcome given the novel therapies that have emerged over the last four years. In ATTR, the liver makes abnormal, misfolded amyloid proteins that primarily accumulate in the heart and the nerves. Thought to be a progressive, lethal disease just a decade ago, this type of amyloidosis is now a manageable chronic condition. While some patients are still misdiagnosed, increased awareness about ATTR has helped health care providers connect seemingly unrelated symptoms more quickly.

Patients undergo genetic testing to learn if they have hereditary or “wild-type” ATTR. Both can manifest as cardiac or neurologic complications. Cardiac signs include fatigue, shortness of breath, lightheadedness and heart palpitations, whereas common neurologic symptoms are numbness, tingling and decreased sensation in the hands and feet. There are now three FDA approved treatments available, and more are in development, for transthyretin amyloidosis.

Challenges Accessing Treatment

Even though new medications are available, not all patients are able to access treatment or get the one that is right for them. The medications are costly and patient assistance programs may not be available to everyone who needs them.

In addition, some insurers will not cover certain treatments, forcing patients to consider off-label use of medications. This barrier to care is frustrating as it allows a treatable disease to inevitably progress, when it could otherwise be halted.

The Value of Innovation

Even through red tape, it is refreshing to be able to help patients initiate treatment. For most of them, getting to an accurate diagnosis was a frustrating journey. To begin taking a medication that will slow the disease’s progression brings many patients tears of joy. Innovative therapies slow disease progression allowing patients to keep their independence and be present for milestone events.

As an amyloidosis specialist, I look forward to the day when there will be accessible disease-specific treatment options for all the patients that I see. Until then, I will continue to help them manage their symptoms and offer support through wellness groups. I will also champion awareness initiatives to improve diagnosis, access to treatment options, long-term survival and overall quality of life.

Johana R. Fajardo, DNP, ANP-BC is the infiltrative cardiomyopathy program director for a hospital system in Washington, D.C. and a member of the Alliance for Patient Access’ Rare Diseases Working Group.

Breakthrough, an IfPA blog series, offers health care providers a voice in the ever-growing conversation about innovation and value.

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