In the fall of 2012, my granddaughter Haley, who is 7 years old and has a rare condition known as CDKL5, went off to school fulltime. One morning, as her sister Emily, who is 3 years old and has a different rare disease — short bowel syndrome — was still sleeping, I sat on the sofa with a cup of coffee watching Morning Joe and realized that, for the first time in years, I was relaxing at that time of day.
With some time on my hands, it occurred to me to that I might put together a support group for families living with rare diseases. I soon realized that the centerpiece of support is often dealing with the frustration at being on the margins of medical care, always fighting the battle to get diagnosed and battling the inefficiencies of the medical system when it came to dealing with our longterm complex chronic care needs.
After a week or two of thought, I realized the proper place for such a group was in the heart of the medical system; not my living room, the local community center or local school. With that thought in mind, and ten years collective experience of caring for my daughter’s two rare disease children, I sat down and wrote to my local medical center. I addressed the letter/proposal to Albany Medical Center and Albany Medical College. In it, I simply pointed out as diplomatically as I could that a regional medical center should not be expected to have the facilities to deal with the vast majority of rare diseases, yet this was our medical home. Consequently, we both faced the same problem, the lack of a plan to deal with the rare and complex diseases.
Rather than come as a critic, I suggested that our region of over 2 million residents had collective wisdom and experience of dealing with rare diseases, albeit on our own, and that together we could raise the bar for managing rare diseases in our regional medical home. I suggested that we host a Rare Disease Forum. That proposal was approved by both the Center and College, and our first forum was held on 2/28/13 and was an overwhelming success.
The movement has become known as the Albany Medical Center Rare Disease Forum and our 2nd Annual Forum will be held on 2/26/14 of this year. We have formed a committee within the Pediatric Department to develop a resource unit to assist families, clinicians and agencies serving this population with a system to secure expedited diagnoses where possible and plan coherent management plans for the longterm chronic and complex needs of these families. We are now confident that this unit will become a reality, and we look forward to working with our regional and state planning agencies to see it come to life. We look forward to a collaborative effort wherein families, clinicians and service agencies are equal partners.
In order to address the broader issues and taking advantage of our geographical proximity to the State Capitol (<2 miles) we formed the New York State Rare Disease Alliance. We have a six point focus: expedited diagnoses; improved management of care; efficient and comprehensive medical records to guide the care; patient navigators to guide families; public education focusing on the rare diseases as a major public health problem; and research.
We have chosen this path in recognition that the vast majority of rare diseases have no cures or best practices, and unless and until research brings us all cures and/or therapies, our principle need is a service delivery system and the management of that should be near our home.
RareDisease Dialog is the official blog for the National Organization for Rare Disorders (NORD). NORD’s staff and friends will share information of interest to the entire rare disease community.
Translate This page:
SUBSCRIBE TO OUR E-NEWS