Huntington’s Disease families in North Carolina represent a medically under-served population.
Based on national estimates, there are 550 affected NC HD patients and 2,750 affected family members (at-risk children and caregivers) in North Carolina. In total, there are an estimated 3,300 individuals in North Carolina directly affected by HD. These estimates, however, are based on epidemiologic studies done in the 1970s in other areas of the United States. No systematic study evaluating the actual number of HD patients and affected family members has ever been done in North Carolina. The true prevalence of HD is believed to be many-fold greater than estimates, as many families are hesitant to expose their family illness because of hopelessness, stigmatization and the fear of genetic discrimination.
Huntington’s Disease is considered an uncommon disease, but lack of awareness and social isolation limit identification and medical care for HD families in North Carolina as much as prevalence. Nationwide estimates predict that 3-7 out of every 100,000 people suffer from HD in the US; this is similar to the prevalence rates for ALS (Lou Gehrig's disease) and Cystic Fibrosis. Community awareness of Huntington’s Disease, however, is much less than these illnesses of a similar incidence,. This serves to isolate HD families from each other, their communities, and specialized care providers.
Geography plays a role in isolating HD families too. Because North Carolina is a large state without high population urban areas, HD patients and family members are spread throughout distant regions spanning more than 500 miles. Because of these geographic factors, families often find that they must manage serious psychiatric symptoms, life-threatening medical complications and dwindling financial resources without help.
Caring for a patient with Huntington’s Disease is a time intensive and complicated process for an inexperienced care provider. The average patient is misdiagnosed for seven or more years after onset of the disease. Medications can have paradoxical effects, misinformation about the disorder can hinder good decision-making and lack of preparation for the financial consequences and predictable complications of the disorder maintain the cycle of crises often seen in Huntington’s Disease families. It is hard for an inexperienced physician to maintain hope in the face of these challenges.
Currently, there are clinicians with the experience and resources to provide high quality care to HD families, located at Wake Forest University, Duke University and the University of North Carolina at Chapel Hill. In the absence of an interconnected web of care for HD in our state, however, fewer than 200 patients are followed at these institutions, and only about 20 patients undergo predictive genetic testing each year. In fact, most NC HD families do not even know that expert care is available in this state as few social networks connect patients and their families with these care sites. At times when HD families are most in need, there is no easy way for families to access expert medical care or helpful resources.
The North Carolina Center for the Care of Huntington’s Disease is dedicated to solving the problem of access to care by creating a system in which patients, families and community providers can easily access specialized care, information, and resources.