Huntington's Disease Awareness Month
Huntington's Disease has been on my mind a lot lately, and you can read a previous post, Unraveling the Mysteries of Neurodegenerative Diseases for some of my musings. But how do people and families who have the disease cope with it while waiting for a cure?
The Huntington's Disease Society of America (HDSA) has a motto: The cure starts here. The caring never stops. Huntington's disease, also known as Huntington's chorea, is an inherited neurodegenerative disorder that does not appear until middle age. Victims exhibit involuntary body movements, dementia, and psychiatric problems. They are not able to function or care for themselves. Parents who carry the disease have a 50% chance of passing the gene to their child. Symptoms are treated with physical therapy, medications, occupational therapy. There is at present, no known cure. HDSA also provides a list of Movement Disorder Clinics and Neurologists who specialize in treatment of dementia. Patients live with deteriorating symptoms for 15-20 years after diagnosis, so coordinating supportive care and financial resources is imperative. Applying for Social Security Disability Benefits (SSDI) can be daunting, and the good folks at HDSA are there to help you through the appeals process. Sad to think that you will likely have to appeal before you even get started, but HDSA can help refer you to an attorney who specializes in these claims.
Prenatal testing is available, and HDSA provides a list of facilities in the US. A new technology called Preimplantation Genetic Diagnosis (PGD) allows a family at risk to eliminate the gene from their family line, forever. Families work with genetics counselors to resolve the ethical dilemmas encountered with in vitro fertilization (IVF), PGD and the production of multiple live embryos to produce a disease free live birth. Genetic counselors are professionals who help people understand and work through the medical, psychological and family implications of inherited diseases.
Some people with a history of the disease are conflicted about whether or not to have the screening test to learn if they themselves carry the disease. A new development in the field of PGD is Non-disclosing Preimplantation Diagnosis of HD, a way of doing PGD without telling the patient whether or not they are a carrier of the HD gene. Some people who are at risk do not want to know their status, not only for psychological reasons but, according to HDSA, "...they may have a well-founded fear of being denied insurance if the test for HD comes back positive. HDSA states this treatment is only available at this time in Fairfax, VA.
This month is Huntington's Disease Awareness Month. Personally, I would recommend anyone who has the disease, or knows someone with the disease request that a Medical Case Manager be assigned to your case to help navigate the confusing and overwhelming maze of medical, financial and social services. A case manager can be your advocate, help you understand what you need and make sure that you get it, whether it is benefits, services or Durable Medical Equipment.
Thank you Lao Wai for use of the graphic.