Going Through The Hoops To Get The Right Neuropathy Diagnosis

Today's post from neuropathy.org (see link below) is the personal story of a man who eventually got the right diagnosis for his own particular neural dysfunction (Adult Polyglucosan Body Disease (APBD)) but only after a considerable range of tests and early mis-diagnoses and a great deal of will power. The problem with neuropathy is that it can come in so many forms and getting the correct diagnosis, often depends on whether your doctor or specialist is prepared to go the extra mile. Most doctors will listen to a patient's story, evaluate his symptoms, do a few standard neuropathy tests and come out with a 'blanket' diagnosis that may not be the full story. This story is worth reading because it just goes to show how dependent we are on our doctor's willingness to really investigate the problems we're having. The problem is that these days, cost is a huge issue and the more detailed the investigations the more expensive they are (try getting your doctor to do an MRI these days!). The advice given in the article is first class - we do need to become our own advocates.

Getting from an "Idiopathic Neuropathy" Diagnosis to an "Adult Polyglucosan
Body Disease" Diagnosis
By David Epstein August 22, 2014

In 2011, I was diagnosed with a rare genetic disease called Adult Polyglucosan Body Disease (APBD). This APBD diagnosis was made 10 years after I was diagnosed with idiopathic neuropathy.

I was in my early 50s when I started experiencing leg cramps, stiffness and heaviness in my legs, muscle twitching and soreness, foot drag, and stumbling. In addition, I had numbness in my hands. Over the years, the symptoms slowly progressed: the numbness moved up my legs and the stumbling and balance issues intensified. I went through a number of medical tests which included MRIs, EMGs, evoked potential tests, blood tests, and a spinal tap. Over the next three years, I received several diagnoses, including Idiopathic Neuropathy, Chronic Inflamatory Demyelinating Polyneuropathy, Demyelinating Sensory Polyneuropathy, and Polyradiculopathy – each from a different doctor that I consulted with in the hope of getting answers.

Since my brother Howard -- who is five years older than me -- also had similar symptoms, my doctors did consider the possibility of a hereditary neuropathy diagnosis. At the time, the National Institutes of Health (NIH) was conducting research on hereditary neuropathy. I seized this opportunity to meet with the NIH researchers because I needed answers. As part of my clinical work-up at the NIH, I underwent several tests, including repeat MRIs and EMG. After evaluating the test results, the researchers noted evidence of lumbosacral polyradiculopathy. I had a follow-up MRI which showed a central disk protrusion, resulting in neural foraminal stenosis and compromising the right L5 nerve root.

Then in 2010, I met with the NIH researchers again for a follow-up. In addition to repeating the string of diagnostic tests I had undergone earlier, the researchers were looking at various genetic tests. This time around, the test results led the researchers to consider several diagnoses, including leukoencephalopathy. But when the tests for leukoencephalopathy came back negative, I was referred to the Kennedy Krieger Institute in Baltimore, MD where researchers were conducting studies in White Matter diseases. My MRI showed white matter abnormalities and this led the researchers to consider a diagnosis of leukodystrophy or Adult Polyglucosan Body Disease (APBD). After genetic blood testing, the results confirmed I had APBD.

APBD is a rare glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder, and cognitive difficulties that can lead to dementia. It is caused by a mutation in the GBE1 gene, encoding the glucan (1, 4-alpha-) branching enzyme 1 (GBE). Without this enzyme, glycogen is not synthesized properly, regulation of glycogen synthase is dysfunctional, and deposition of amylopectin-like polyglucosan bodies in neural tissue occurs.

It was a relief to finally have a diagnosis, to know why I had these symptoms. But it was also disturbing to know that there is no cure or treatment. I knew I had to share this news with my family members, given the genetic factors. A few months later, we learned my brother Howard’s tests came back positive. We both were working with different neurologists in different cities, and neither of them had considered APBD as a potential diagnosis because it is so rare.

Over the years, I have tried prednisone and gabapentin, among other medications, to help address the neuropathic pain symptoms -- none of them provided much relief. I also went for physical therapy to improve my balance and overall strength and conditioning. Additionally, I went for occupational therapy to learn how to live better with APBD and prevent further complications. To address my balance issues -- and prevent falls and fall-related injuries -- I had hand bars installed in my bathrooms per the recommendations of the occupational therapist. I soon realized the importance of making these adjustments.

Getting a correct diagnosis is often a challenge for someone who has a rare disease. Many people are unable to get a diagnosis, are misdiagnosed, or are given different diagnoses as their symptoms evolve over time.  

My advice is four-fold:
- Pursue a diagnosis and be your own best advocate;

- Use the Internet to learn about your condition and proactively reach out to others who have similar health conditions;

- Be aware of clinical research study opportunities and pursue them when appropriate; and

- Partner with your doctor to get your diagnosis and the best possible care by being a well-informed consumer of health information.

Now that Howard and I have been tested for -- and diagnosed -- with APBD, we are proactively sharing our experiences and helpful information with family members and friends, and the public at large, to help raise awarenesss. Our hope is that people with APBD can recognize the symptoms early and work with their doctors to get diagnosed -- I know it will save them considerable time, money, and anguish in determining what is causing their symptoms.

http://www.neuropathy.org/site/News2?page=NewsArticle&id=8744&news_iv_ctrl=1101