David’s Story
In 2011 I was diagnosed with a rare genetic disease called Adult Polyglucosan Body Disease (APBD). This diagnosis was made about 13 years after I first experienced symptoms with my feet and hands. In 1998, in my early 50’s, my initial symptoms were leg cramps, stiffness and heaviness in my legs, muscle twitching and soreness, foot drag, and stumbling. In addition, I also experienced numbness in my hands. Over the years, the symptoms slowly progressed where the numbness went further up the leg and the stumbling and balance issues intensified. The unsteadiness is especially troublesome immediately after standing and beginning to walk.
During the early stages of the symptoms, I went through a number of medical tests, including MRI’s, EMG’s, Evoke Potential, blood tests, and a spinal tap. The initial diagnosis was idiopathic peripheral neuropathy. Since my brother also had similar symptoms, the question arose of a potential for hereditary neuropathy. The National Institutes of Health was conducting research on hereditary neuropathy and in 2002 I met with them to participate in their trial. At that time, NIH conducted a genetic test and did not find any positive results within the parameters of their research. As part of my workup, I underwent several tests to include additional MRI’s and EMG. After evaluating the test results they noted evidence of lumbosacral polyradiculopathy. I had a follow-up MRI showing a central disk protrusion, resulting in neural foraminal stenosis compromising the right L5 nerve root.
In 2010, I again met with the doctors at NIH for an update. They were looking at various genetic options and again conducted various tests (MRIs, blood tests, etc.). Based upon the results of these tests, they were looking at several possible diagnoses. A possible disease was leukoencepholopathy. When the tests came back negative, I was referred to the Kennedy Krieger Institute in Baltimore, MD where they were conducting studies in White Matter diseases. White matter abnormalities appeared in the MRI. As a result, they looked at a possible diagnosis of leukodystrophy or Adult Polyglucosan Body Disease. After genetic blood testing, the results came back positive for APBD. It was comforting to finally have a diagnosis, but disturbing to know that there is no cure or treatment. Subsequent to my positive test results, my brother also had test which confirmed that he has APBD as well. He has been suffering with the disease for well over 15 years before receiving this diagnosis. In both our cases, our separate neurologists had not considered APBD as a potential diagnosis due to the rare nature of this disease.
Over the years, I tried a number of different medications, which included Prednisone, Neurontin, and other medications primarily used to treat seizures. None of these provided any relief. Since there is no cure for the disease, what worked for me was to treat and deal with the symptoms. I went for physical therapy to improve balance and overall strength and conditioning. I also took occupational therapy to learn how to live better with my condition and avoid any further issues and complications, especially with the balance problems. One change that was immediately implemented was the installation of handlebars in the bathrooms. Another recommendation was to install a second handrail on the other side of the staircases to provide additional stability. It is important to make changes that enable us to live our lives without causing injury due to falls and improper or sudden movements.
Now that we have a diagnosis for the disease, it is possible to share this information with extended family members so they can be alert to symptoms in their families and look to APBD as a possible diagnosis. It will save them considerable time, money, and anguish in determining what is causing their symptoms.
My advice to others is to pursue a diagnosis and be your own best advocate. Use the Internet to learn about your condition and reach out to others who have similar conditions. Be aware of clinical trials and pursue opportunities where appropriate. Help your doctor in diagnosing your ailment by being a well-educated and knowledgeable consumer of health information.