In April, our family (Edward, Melanie and sons Brooks and Russell) attended NTSAD's annual  conference in Reston, Virginia. Our 2 ? year old son Russell is unique in that he has two chromosome 15 defects: Prader-Willi Syndrome and Tay-Sachs Disease. 

A useful conference session featured Stephanie Bozarth talking about how she became a rare disease research funding advocate following her daughter's diagnosis with Mucopolysaccharidoses (MPS). Stephanie urged the families to meet with their members of Congress either in Washington, or back home, to talk about the compelling need for more medical research on rare diseases.

Stephanie's talk inspired me to reach out to the Congresswoman who represents my home town of Denver, Diana DeGette, who was a classmate of mine at Colorado College. Rep. DeGette is one of Congress's leading advocates for health care research, and with Rep. Fred Upton (R-MI), has launched a 21st Century Cures Initiative for "government support to accelerate the pace of cures and medical breakthroughs." 

Rep. Diana DeGette, Ed and Melanie with their sons Russell and Brooks (left to right)

Our entire family met with Rep. DeGette on June 1st in her Capitol Hill office overlooking

the Washington Monument. During our visit, Melanie and I were able to tell the story about the great care we are getting for Russell from our physicians (Dr. Elizabeth Valois, Kaiser Permanente and Drs. Cynthia Tifft and Deborah Reiger, NIH) and also about the difficult process of getting nursing and other assistance from the state of Maryland. 

Congresswoman DeGette welcomed our narrative, saying it gave her context to understand the problems families face when they have children with rare diseases. She also encouraged us to personally get involved in informing other members of Congress about Tay Sachs, just as she had gotten involved in the cause of Diabetes research from personal family experience.

We also discussed the challenge of getting congressional funding for rare disease research. When I mentioned Stephanie Bozarth's observation that NIH funding for research into the disease affecting her daughter went up from $5 million on an annual basis to $11 million, but then was cut to $8 million when the Congress enacted a ten year indiscriminant budget cutting measure in 2011 called "sequestration," DeGette said that families need to tell their members of Congress that health care funding is a non-partisan and pressing issue, and that they need to pay attention to areas such as rare disease research where additional federal funding makes sense, and wouldn't necessarily be addressed in the private market.

We left our meeting invigorated to try to make a difference in our advocacy and to encourage other Tay Sachs families to do the same. We've learned from personal experience with other friends who've become health care funding advocates that through organized advocacy parents with children afflicted with rare diseases can make a difference.

To learn more about how you can advocate, contact Sue Kahn, Executive Director of NTSAD, or Diana Pangonis, Family Services Director at (617) 277-4463.

 

The Rare Action Network ? (RAN) is the nation's leading advocacy network working to improve the lives of the 30 million Americans living with a rare disease at the state level. RAN serves as a broad spectrum of stakeholders ranging from patients, to their families, caregivers, and friends; from researchers to industry; to physicians and academia. While working predominantly at the state level, the network will filter information up to NORD's national federal policy team to help address issues of national concern. Learn more on their website.