Are you looking for a way to show your support to a cause in need? Or do you know the feeling of losing a loved one when they still have so much more life to live? Well, if you can relate to either one of these topics, then you should help support the Caffarelli family. They are a family primarily from Ocean County, New Jersey who have been affected with a rare form of muscular dystrophy called Scapuloperneal Muscular Dystrophy. Fourteen family members have been dignosed with this disease, eleven have already passed away. Because this disease is so rare, funding for this research was nonexistent until recently. Once the foundation was formed and research began later it has been recognized by MDA. That is why we need you to help support this family and find a cure for this devastating disease that has been affecting this family for over twenty five years now and will continue to do so until we potentially find a cure to stop this disease from taking away these family members too soon in life. The family established the Caffarelli Family Research Foundation in 1997 to provide a source of funding to assist in further research to terminate this disease.
Centenary College’s Sales and Sales Management class recognizes that this is an extraordinary cause that can only become closer to an end with the help of people like us everywhere. We are putting together fundraising events in several locations in the Hackettstown area such as Applebees, IHOP, and Bea McNally’s Irish Pub. In addition, we will also be broadcasting on WRNJ radio to promote the cause and creating a crowdfunding page on Indiegogo.com. It is people like you who will help this family come one step closer to finding a cure and let them have the ability to live the long, fulfilled life that they deserve.
What is SPMD?
Scapuloperoneal muscular dystrophy is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Scapuloperoneal muscular dystrophy, or a subtype of Scapuloperoneal muscular dystrophy, affects less than 200,000 people in the US population.
Scapuloperoneal syndromes are characterized by their distribution of muscle weakness and wasting. The reported pattern of inheritance has been variable. Both neurogenic and myopathic forms of autosomally dominantly inherited scapuloperoneal syndrome have been described. It has been suggested that these are variants of other neuromuscular diseases. We examined 44 members from a family with 14 members affected with a scapuloperoneal syndrome. Physiological and histological analysis implied that this condition is predominantly myopathic. Linkage analysis was done to confirm the genetic etiology of the disease in this family and to evaluate the possibility that it is a allelic variant of other neuromuscular diseases. Genetic analysis demonstrated linkage of the disease to chromosome 12, which makes it genetically distinct from other loci known to cause neuromuscular disease. Muscle fibers with hyaline desmin-containing cytoplasmic inclusions in combination with focal myopathic changes may be a disease-specific morphological marker of the disease.