New bill could help patients with rare diseases find effective treatments

WEST PHILADELPHIA (WPVI) -- One local doctor is urging lawmakers to pass a bill that could help thousands of people with rare diseases to find effective treatments.

He's a doctor and a researcher, but he's also a patient battling a rare disease himself.

A rare disease means it affects a very small percentage of the population. But all together, about 30 million Americans have one of the 7,000 rare diseases. And only five percent have an approved therapy.

This proposed bill aims to change that.

Today, Dr. David Fajgenbaum spends his days inside the lab at Penn Medicine, looking for clues and cures for rare diseases.

In the past, he played football at Georgetown University and was perfectly healthy - until he turned 25. At the time he was in medical school.

"I started having abdominal pain, night sweats, my lymph nodes were enlarging. And over the course of just 2-3 weeks I went from being healthy to really being on my death bed," said Dr. Fajgenbaum.

He spent weeks in intensive care and was diagnosed with Idiopathic Multicentric Castleman Disease.

It's a rare and potentially deadly condition where the immune system starts attacking a person's own organs.

He was treated with chemotherapy but relapsed several times until he started doing his own research.

Dr. Fajgenbaum asked his doctor to prescribe him a drug used in people who've had a kidney transplant.

Since then, he's been in remission 29 months, longer than ever before.

"Every day is a new record and every day I feel more optimistic. Maybe this is the drug that is going to work for me for a long time or maybe it's a drug that's going to work for a lot of other patients as well," he said.

In fact, he's hoping this approach or re-purposing drugs can help thousands.

He urges lawmakers to pass the Open Act. It would give pharmaceutical companies a financial incentive to test existing drugs for other uses.

If they win approval, the cost is more likely to be covered and families can find answers.

"This is a chance to finally get attention of rare diseases and to try and find drugs to work for us that we never thought were possible," said Dr. Fajgenbaum.

Currently, the Open Act passed in the House but has stalled in the Senate.

Dr. Fajgenbaum welcomes other families to support the bill.

For more information on the Open Act, CLICK HERE.
Copyright © 2019 WPVI-TV. All Rights Reserved.