Parents of a Child With Familial Chylomicronemia Syndrome Advocate for Passing the HEART Act

According to an article in the Times Union, a group of parents with children who have been diagnosed with rare diseases are leading the crusade to foster federal legislation which would improve treatment for rare diseases and make it more affordable.

The federal legislation is slated to be bipartisan. The parents, who are advocating for their children, recently attended a virtual round table meeting with Paul Tonko, United States Representative (D-NY).

Rep. Tonko said that the Act could represent the most significant progress in fighting rare diseases since the 1983 Orphan Drug Act.

The HEART bill would:

  • Require the FDA to have experts in rare diseases on its advisory panels to review potential treatments; and
  • Require the FDA to consult with rare disease patients and families when it evaluates the mitigation and risk elements of treatments for rare diseases.

Rep. Tonko, who co-sponsored the HEART bill, acknowledged the value of supportive families when he said that the data they compile aid the FDA’s efforts in finding treatment options as well as affordable treatments.

Substituting One Adverse Event for Another

Melissa Goetz, a resident of Watervliet New York, has advocated for her daughter since 2013 when their daughter received an initial diagnosis of familial chylomicronemia syndrome (FCS). Melissa co-founded the FCS Foundation in an effort to raise money for advocacy and research.

Several years later, along with other FCS families, Melissa took part in one of the FDA’s reviews of a drug that was considered to be an effective treatment for FCS.

The families were disappointed when they learned of the FDA’s rejection of the drug. The Agency based its concern on the drug having exhibited a risk of low platelets and/or bleeding.

A spokesperson for the Agency explained to Melissa that if the FDA approves the drug, patients would be simply exchanging risks by substituting low platelets for pancreatitis.

Melissa felt, at that moment, that the FDA did not fully understand FCS. She disagreed with its reasoning and explained that living with a risk of low platelets cannot be compared with being hospitalized almost monthly with pancreatitis.

Common Safety Concerns

Although she was disappointed, Melissa acknowledged that concerns about safety are magnified with rare disease treatments. This is due to the lack of adequate study samples and treatment options.

About FCS

The disease is “one-in-a-million” and is characterized by problems with a breakdown of fats which leads to high triglyceride levels. The abnormal triglyceride levels cause abdominal pain, fatal pancreatitis, and continued periods of hospitalization.

About the HEART Act

If the HEART Act is passed, the FDA would be forced to consider the input of rare disease advocates when it weighs a drug’s presumed risks.

Melissa and her group were aware that other groups representing rare disease patients were experiencing similar rejections related to obtaining FDA approval. She stressed that granting approval involves a thorough understanding of rare disease communities.

In addition, if passed, the legislation would require that:

  • The FDA’s staff be included in rare disease drug reviews
  • Direct that the GAO review European Union best practices
  • Each agency division of the FDA develops annual updated reports on drug applications for rare diseases.

The grim facts are that there are approximately seven thousand rare diseases impacting at least thirty million people in the U.S. Over half of these are children who may not survive past their early teen years.

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

Share this post

Share on facebook
Share on twitter
Share on linkedin
Share on pinterest
Share on print
Share on email