Friends and Family,
I will be running a half marathon as part of Running For Rare Diseases, a program I've been involved with since 2008. This year my running will take me to Providence as I will be with the expansion of RFRD into Providence on May 3, 2015 with a team of 80 runners. The Providence Marathon & Half Marathon take place just two weeks after the Boston Marthon where 23 runners will be representing RFRD. In total, the team has 103 runners.
This year I will be running on behalf of Will a boy from Pennsylvania representing the Homocystinuria (HCU) Community. Will's story can be found here - http://www.ivewillashot.org/. Will's family has been involve with RFRD team for the last two years. Will's dad Chris will be joining us in Providence running the full marathon.
The 102 members of the RFRD team are raising money and awareness for a very special program. The team, in partnership with the National Organization for Rare Disorders (NORD), announced the creation of a fund to pay for standard diagnostic testing for people with mysterious, undiagnosed medical conditions. The fund will help those who have applied to the National Institutes of Health (NIH) Undiagnosed Diseases Program, but who cannot afford the basic medical tests needed to make them eligible to participate in the NIH program. NORD is a federally registered non-profit organization (TAX ID 13-3223946)
The 93 runner/patient partner teams are representing the following communities; all inspired to make a difference on behalf of the greater rare disease community:
9p-deletion, gne-myopathy (HIBM), Miyoshi Myopathy, Addison's Disease, Griselli Syndrome Type 1, Mucopolysaccharidoses Type 1 (MPS 1), Arterial Tortuosity Syndrome (ATS), Hereditary Angioedema, Multiple Sclerosis (MS), Atypical Abetalipoproteinemia, Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS), Myelodysplastic syndromes (MDS), Autism, Hereditary Spastic Parapalegia (HSP), Neuronal Ceroid Lipofuscinosis (NCL) or Batten Disease - infantile, Autoimmune polyendocrine syndrome type 1 (APS-1), Homocystnuria, N-glycanase (NGLY1) deficiency, Bilateral Congenital Cataracts, Hypoparathyroidism, Niemann-Pick A, Cadasil, Hypothalamic Harmatomas (HH), Niemann-Pick B, Chronic Intestinal Pseudo Obstruction/Motility Disorder, Jackson-Weiss Syndrome, Paroxysmal Nocturnal Hemoglobinuria, Congenital Central Hypoventilation Syndrome (CCHS), Juvenile Arthritis, Pompe, Congenital Hyperinsulinism (CHI), Klippel-Feil Syndrome (KFS), Prader Willi Syndrome (PWS), Cushing Syndrome, Langerhans Cell Histiocytosis (LCH),Rothmund Thomson Syndrome (RTS), Cyclic Vomiting Syndrome (CVS), Laryngeal Cleft, Scleroderma,Erythemae Multifromae, Lupus, Shwachman - Diamond, Familial Hypocholesterolemia, Mast Cell Disease, Stiff Persons Syndrome (SPS),Fibrodysplasia Ossficans Progressiva (FOP), Mastocytosis, Tyrosinemia, Fibromuscular Dysplasia, Metachromatic Leukodystrophy (MLD),Undiagnosed, Frontotemporal Dementias, Microthalmia, Vanishing White Matter Disease, Gaucher Disease, Mitochondrial Disease, Von Hippel-Lindau syndrome (VHL), Williams syndrome