There was an article in the NY Times the other day that caught my attention. The article was about Dr Thomas Insel, the longest serving director of the National Institute of Mental Health. Apparently he is a man of vision and immense focus, and you can presume from his tenure, not without prodigious political skills.
It was a statement of one of his critics that drew my attention. “N.I.M.H. is betting the house on the long shot that neuroscience will come up with answers to help people with serious mental illness—It does little or no psychosocial or health services research that might relieve the current suffering of patients.”
One could say the same for the US Policy on rare diseases and a recent article in Rare Disease Journal asserts that is the case: In the United States, patients with rare diseases have limited hope for treatments due to inadequate market incentives for the pharmaceutical industry to develop these orphan drugs. The available data suggest that the US health-related policies have focused on the diagnosis of these diseases by concentrating on research, improving access to credible laboratories, newborn screening and facilitating a coordinated research effort.
For the rare disease community and those who profess to represent it, we need to address the issue of limited therapeutics currently available and the production timeline for those on the horizon.
The facts are crystal clear; of the approximately 6000 plus rare disease, therapeutics are available for about 200 of them. When Dr Collins, Director of NIH was asked about the challenge of developing new clinical interventions, he responded that traditional research methodology takes 20 to 30 years to produce interventions.
As a caregiver to two young grandchildren with rare diseases and an activist in the field, those realities are disturbing, yet they are the facts. Based on those facts, the tasks ahead are crystal clear: first and foremost do all that is possible to address the needs of patients and caregivers dealing with diseases without cures and do all that is possible to modernize research methodology.
Ed, Each time I see the giant steps that are now being taken in regards to these Rare Diseases and How you were able to orchestrate these amazing Groups who are now
working together with a common goal on a world wide measure I just am so gratified that I know you and so proud of your accomplishments. You truly are a man of vision, of hope, of faith, and perseverance.
Congratulations on these Major Accomplishments and the Legacy you will not only leave to your own beautiful Grandchildren but also to the medical world and it’s children.