Family Heart Foundation volunteer Advocates for Awareness, Tom Weiser, and Michelle and Jason Watts, were with Cat Davis Ahmed, Director of Outreach at the National Institutes of Health and on Capitol Hill in Washington, DC for Rare Disease Week representing those in the FH Community with Homozygous FH (HoFH). The group spoke to representatives of the FDA, the ICD-10 Coordination and Maintenance Committee, Congress Members, Senators, and Congressional staff members. Many thanks to the EveryLife Foundation and Rare Disease Legislative Advocates for organizing such an amazing showing of the rare disease community! We were grateful to be a part of this event.

Familial Hypercholesterolemia (FH) is common, affecting about 1 in 250 people worldwide, but Homozygous FH is rare. We used to think HoFH affected 1 in a million, but now we know the prevalence is more like 1 in 160,000. HoFH, caused by multiple inherited FH genes that drive LDL cholesterol levels above 400 mg/dL, results in even more aggressive heart disease earlier in life – sometimes in childhood. HoFH can be especially hard to treat – requiring a combination of drug therapies including those specifically approved by the FDA for HoFH, and often treatment with apheresis. People with HoFH, and many others with heterozygous FH, face barriers to treatment, including getting a proper diagnosis and access to the treatment they desperately need.

We went to DC with gratitude for those with FH, especially HoFH, who have participated in research over the years that has resulted in effective treatments to lower cholesterol – an important risk factor for heart disease. We went to thank those who support NIH and FDA funding for rare disease research, and to raise awareness of FH, a genetic disorder affecting 1.3 million Americans that can have a devastating impact on families. We also went with a message of hope. With early diagnosis and treatment, people with FH can live longer healthier lives.