The Caffarelli Family Story

The Caffarelli family is a very large family from New Jersey, primarily from the Ocean County area, who have been affected with a rare form of muscular dystrophy. It has been identified as scapuloperoneal muscular dystrophy. According to medical records, the first case of the disorder was traced back to approximately 1925, when the maternal grandfather, Francesco Caffarelli became disabled. The family was told his disability was due to a fall. He used a wheelchair to get around and spent much time in a city nursing home, where he died in June 1933 of cardiac arrest at age 46. Francesco was an immigrant from Northern Italy and an only child. He married in the United States in 1912 and settled in Newark, New Jersey. At the time of his death he left a wife and (5) surviving children. In 1972, thirty-nine years after his death this disease resurfaced for the first time. A grandson, then age 26, was suffering from extreme muscle weakness in his upper and lower extremities when he sought medical assistance at the University Medical Center. Physicians suspected that he had a form of muscular dystrophy and questioned the family’s medical history. The doctors were particularly interested in obtaining records of the grandfather. Records were obtained and revealed that the grandfather had a diagnosis of “dystrovia of the muscles”. Very little was known about muscular dystrophy at that period. It was not determined until after 1950 that muscular dystrophy was genetically linked. So, it wasn’t until 1972 that an inheritable muscle disease was identified in this family.

A year after the diagnosis of the first grandson, others were diagnosed, a daughter, age 58 and another grandson age 28. It would attack many more times over the years. This disease has hit three generations during the past 25 years. Presently, fifteen members of the family have been diagnosed with scauloperoneal muscular dystrophy. Age of onset has ranged from age 18 to 65

At the urging of an affected family member, several affected members of the Caffarelli Family were seen by neurologists at the Columbia-Presbyterian Neuromuscular Research Center in New York in August of 1989. After examinations were performed, it was decided that DNA sample would be collected of the family and a cell bank would be established. The purpose was to identify the nature of the disorder, establish linkage to a chromosome, and identify the defective gene. Forty-four family members were examined by neurologists, contributed to the cell bank and the search began.

A paper on the study of the family was published in April 1996 issue of the “Annals of Neurology”. It was titled, “Chromosome 12-Linked to Autosomal Dominant Scapuloperoneal Muscular Dystrophy”. This paper represented a seven year search to identify the disorder and established linkage. It was the first step to solving the dilemma of this family. Ten affected family members have died of complications resulting from this disease over the past twenty-four years. Until a gene is identified for this disorder it will continue to impact on this family. The Caffarelli family have been devastated by this disease!

Because scapuloperoneal muscular dystrophy is so rare, funding for research was nonexistent. Although, the Muscular Dystrophy Association (MDA) provides patient services for all forms of muscular dystrophy, it just recently began accepting research grant proposals for scapuloperoneal muscular dystrophy. In September 1997, the family established the Caffarelli Family Research Foundation, a non-profit organization and became incorporated. Since then, another research study began at Columbia Presbyterian led by Dr. Michio Hirano. We were informed in January 2008 of his completed manuscript describing the FHL1 mutation. Shortly after, with an approved grant from MDA and some CFSR funds, he initiated the SPMD Project. This project is currently underway and we hope to hear positive results for treatment and ultimately a cure for SPMD.