Resources
Help!
When Anna was first diagnosed with Niemann-Pick C in 2000, the digitalization of all information was still in its infancy. Many organizations and foundations did not yet have real websites; I found most of my information in the library, or through word-of-mouth. But now, as everyone knows, you can look almost anything up with a few keystrokes. If you or someone you know needs additional information on Niemann-Pick C, or on any of the multitude of rare diseases with which it is often lumped, some of the following sites may prove helpful.
The National Institutes of Health (NIH)
(https://www.nih.gov)
The National Institutes of Health (NIH), a part of the U.S. Department of Health and Human Services, is the nation's medical research agency, a vast repository of information, research, and outreach programs. You can find out about clinical trials being performed, experimental drugs being assayed, and basic information about a huge range of health and mental health initiatives. Of particular interest to anyone trying to learn about NPC is the Lysosomal Storage Disorders section, which features many articles on this fraught subject.
PubMed
( https://pubmed.ncbi.nlm.nih.gov/),
One of the many subsections of the NIH is this enormous trove of medical articles and research information. Although my father was a doctor, I have zero background in chemistry or biology, and these articles are sometimes daunting in their scientific lingo, but the abstracts give you some idea of what research is being performed in the once-obscure area of NPC studies. When I first discovered PubMed, around 2001, I relentlessly read all the abstracts on NPC research. There weren't that many. Now, there are hundreds, suggesting again how significant this rare disorder has become in the search for answers to the transport of lipids through the body, and of related issues like Alzheimer's Disease, stroke, and liver function.
The National Organization for Rare Diseases (NORD)
(https://rarediseases.org/for-patients-and-families/information-resources/rare-disease-information)
Another vast repository of information, including webinars, a video archive, patient and family support information, information on financial assistance to obtain expensive medicines, and an enormous database about the many "orphan" diseases which more fortunate people never have to learn about. There are now more than 7,000 rare diseases affecting more than 30 million Americans. NORD is committed to the identification, treatment, and cure of rare diseases through education, advocacy, research, and service programs.
The Ara Parseghian Medical Research Foundation
(http://www.parseghian.org/)
Ara Parseghian was a famous football player and coach; three of his grandchildren were diagnosed with Niemann-Pick C, and this organization, founded in 1994, was among the first to begin funding research into NPC, and related lysosomal disorders. They have now partnered with the University of Notre Dame to continue the research, and informational outreach which the foundation began 26 years ago. They currently fund 12 different laboratories across the country, with research grants ranging from the screening of newborns for the illness to repurposing already existing drug compounds for treatment of NPC.
The National Niemann-Pick Disease Foundation
(https://nnpdf.org/)
The National Niemann-Pick Disease Foundation, Inc. (NNPDF) is a non-profit, patient advocacy and family support organization dedicated to helping patients and families affected by Niemann-Pick disease, through education, collaboration and research. Founded in 1993, NNPDF serves families throughout the nation at all stages of their encounter with the disease. The NNPDF is the US member organization of the International Niemann-Pick Disease Alliance (INPDA). This website, which has grown exponentially since Kate and I first heard about it in 2000, has videos detailing the journey of NPC families, community outreach, and numerous communiques from pharmaceutical companies detailing ongoing clinical trials. It is an invaluable resource for anyone seeking information about any of the variants of Niemann-Pick Disease.
The Mayo Clinic
(https://newsnetwork.mayoclinic.org/discussion/niemann-pick-disease-type-c/)
There are many hospitals in this world, but the Mayo Clinic is certainly one of the great ones, and the original campus, in Rochester Minnesota, is a sprawling complex of offices, clinics, laboratories, conference rooms, and testing sites. An off-handed remark from the grim geneticist who first diagnosed Anna—You might want to check out Dr. Patterson at the Mayo Clinic—led us to spend five days there a few months after we received the horrifying news of Anna's illness. There were then few physicians then who specialized in Niemann-Pick C, or who could even tell us what we needed to know. Dr. Patterson was virtually the sole expert on this illness at the time; now, there are many more, but his expertise remains a touchstone of NPC knowledge and care. In this video, he elaborates on the known and the unknown of this illness.