- Sandy Bulcher, mother of Jordan, age 14, classic MSUD
- Adrienne and Irv Geffen, parents of Elan, age 19, MSUD variant
- Susan Jasin, mother of Jake, age 4, classic MSUD
- Claude Mayberry, grandfather of Matthew, age 11, classic MSUD
- Denise Pinskey, mother of Zach, age 8, classic MSUD
- Tibbie Turner, mother of Nik, age 21, MSUD variant
- Michael Woorman, MSUD adult, age 29, MSUD variant
Discussing strategies: Left to right: Sandy Bulcher, Denise Pinskey, Irv Geffen, Adrienne Geffen, Tibbie Turner, Michael Woorman.
Prior to meeting with the NIH staff, the support group representatives met to discuss a strategy. Irv Geffen was appointed facilitator of the group because he had prior experience in this role. Our meeting started promptly at 11a.m. Staff present from the NIH included: Catherine McKeon, Ph.D., National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); Richard Farishian, Ph.D., NIDDK Policy office; Stephen Groft, Pharm. D., Office of Rare Disease; Mary Lou Oster Granite, Ph.D., National Institute of Child Health and Human Development.
We parents presented a brief description of our child's particular situation, including challenges and achievements. It was emotional to talk about our child's daily struggles. Michael Woorman, an adult with MSUD who is married to a woman with classic MSUD, shared his concerns about the financial impact of the cost of formula on his family. Other concerns included frustration with the lack of MSUD research, the slow progress in improving treatment, and the absence of standardized care. We also expressed concern about the long term outlook for those with MSUD and their quality of life. The NIH staff listened attentively to our family stories and concerns.
Dr. Catherine McKeon of the NIH explained how grants are funded. The process begins with investigators sending proposals to the NIH. A review board evaluates each application for merit, and grants are chosen for funding based on scientific merit and scientific priorities. Dr. McKeon then gave us an update on MSUD research funded by the NIH - there are currently three grants for ongoing studies. She also told us that the NIH denied funding for Dr. Harbhajan S. Paul's research with the MSUD mouse model because it is funding gene therapy research similar to his that could potentially benefit MSUD.
Next, we discussed the addition to the Appropriations Bill of language regarding NIH funding of MSUD research. We were surprised to learn the significance of this addition. The NIH will need to look more closely at MSUD research if the bill passes, which has the potential to benefit all of us. We also discussed several ways to increase the visibility of our organization, including more active participation in NORD (National Organization of Rare Diseases) and the Genetic Alliance.
The apparent lack of young researchers interested in MSUD was a concern of the NIH staff. To deal with this problem, there are several things that we can do as an organization. One is to contact the SIMD (Society of Inherited Metabolic Disorders) and share our concern over the lack of MSUD research. The NIH staff offered to contact local researchers in an attempt to increase interest in this research. They also offered to review current research and determine if any can directly benefit MSUD. It could also prove beneficial to invite prospective researchers to our Symposium.
As we are all aware, treatment for MSUD varies greatly from clinic to clinic. We were excited to learn that the NIH is willing to host a satellite meeting of physicians involved in treating MSUD to discuss standardized care and treatment. This meeting would be in conjunction with other meetings that physicians would be attending at the NIH.
Our meeting with the NIH staff ended at 1 p.m. Those present felt that it was very productive, and we look forward to progress in the areas that we discussed. This meeting was clearly the first step in forming a relationship between our MSUD Family Support Group and the NIH. It is of great importance to have a volunteer to act as a liaison between the two groups. We need to keep an active path of communication and follow up on suggestions offered to us. We will discuss this further at the Symposium in July.
*The NIH is the major funding agency for academic health research. It comprises 27 separate institutes and centers and is one of eight health agencies of the Public Health Service which, in turn, is part of the U.S. Department of Health and Human Services. It is a large agency with 17,000 employees, 10,000 of whom are scientists. The goal of NIH research is to acquire new knowledge to help prevent, detect, diagnose, and treat disease and disability, from the rarest genetic disorder to the common cold. NIH conducts research in its own laboratories; supports the research of non-federal scientists in universities, medical schools, hospitals, and research institutions throughout the country and abroad; helps in the training of research investigators; and fosters communication of medical and health sciences information.
NIH meets MSUD representatives, left to right: Front - MaryLou Oster Granite, Ph.D., Denise Pinskey, Tibbie Turner, Michael Woorman, Catherine McKeon, Ph.D., Back - Adrienne Geffen, Irv Geffen, Sandy Bulcher, Richard Farishian, Ph.D., Stephen Groft, Pharm.D., Claude Mayberry, Susan Jasin.