For multiple years in the 1980s, I, as Director of the Baylor NF Program (BNFP), was responsible for collecting a very large number of blood samples to participate in an international quest to identify and characterize the NF1 gene. Moreover, consistent with the ethics of the time and the details of the consent form, we preserved portions of the samples in liquid nitrogen – for 30-plus years. In the meantime, our Federal government has made it impossible to use these samples without renewal of informed consent. As law-abiding investigators, we recently put out notices on the Internet asking individuals who had participated in the BNFP to contact me. The responses started arriving-by email and telephone within 24 hours, including some patients/families that had contributed the blood samples at stake. But they are not what prompted me to compose this piece. Rather, it is the cadre of folks with whom I’ve never engaged previously, but who nonetheless see this situation as an opportunity to get some advice and help.
Below, I provide the complete text (except for identifying elements) of an email I received at 4:15 p.m. on 27 August 2015, very shortly after the invitation to the blood donors was posted. In the context of the other non-donor emails I received, this missive engenders a pathos beyond that imposed by the disorder, NF1.
“As an adult (66 yr. old) I have never been part of any clinical study as I don’t meet any of the standards. In general those of us that don’t come under the Children’s Tumor Foundation. As you know NF1 continues to be part of our lives. There are no doctors in my area (Connecticut) who will treat me. It seems when the name changed all adults have been challenged by trying to find medical doctors we can rely on to answer our needs. I’ve had more issues as an adult living with NF1 than a child. I don’t know what my medical issues will be and at this point I’m sure I never will.”
As one of the very few, if not the only, board certified internist devoted to NF1, this woman’s pleas were not news to me. And I am (and always have been) as dumbfounded as she seems to be with what she blithely declares about the perceived consequences of “when the name changed.” The original name of the “National Neurofibromatosis Foundation” (NNFF) was changed in December 2004, for purposes of fund-raising appeal, to the “Children’s Tumor Foundation.”
I am most concerned about the fact that well more than half of the NF1 population is made up adults and that they need an organizational commitment at every level as much as do children. And respecting both the accumulation of problems as a function of age AND the virtually tragic paucity of internists and geriatricians devoted to NF1. (John Mulvihill’s efforts at the University of Oklahoma to address these problems have been laudable, but incomplete, the latter through no fault of his, nor the USA Department of Defense Neurofibromatosis Research Program (NFRP) that funded his efforts.
We – Recklinologists at large – have not yet meaningfully addressed the dire need of additional ongoing organizational commitment to the concerns and needs of the adult with NF1. NFormation will now do its share, with emphasis on both the NF1 Next Step program and Executive Decision-Making.
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