Everyone’s experience of living with APBD is unique. Here, real people living with APBD and their significant others share their stories about adjusting to diagnosis, seeking treatment, finding the endeavors that are therapeutic to their symptoms and/or outlook…and much more.
Your story, too, could inspire others whose lives have been affected by APBD. Share your story today! (you can also submit anonymously)
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.
My mom was in fine health until about age 50, when she started complaining of bladder control problems. What happened in the next years taught my family a lesson, and I hope it will be a lesson for others.
Mom’s gynecologist treated her for his diagnosis, chronic urinary tract infections. Separately, she developed foot numbness and stumbling, so she went to a neurologist for that problem. The treatment for that diagnosis involved a brace for her ankle. Neither physician discussed mom’s inability to stay awake past 9 pm, even after 2 mid-day naps.
Something else that eluded discussion: Mom being of Ashkenazi Jewish descent.
At this point, we didn’t know we had several great clues:
• A – Ashkenazi Jew; Age 40-60
• P – Peripheral numbness
• B – Bladder incontinence
• D – Decreased energy
An interesting combination of letters, A-P-B-D. It came to mean a lot more.
Mom passed away without every getting diagnosed properly. She had Adult Polyglucosan Body Disease, best known by its initials APBD. A DNA test performed long after her death was the only way we were to learn the answer.
In another blog, I’ll describe how the mystery repeated itself with my father.
Meanwhile, if you believe you have the A-P-B-D indicators, a simple saliva test now settles the question. Write to firstname.lastname@example.org to arrange for a test kit to be sent to your home. And if you have APBD, know that the APBD Research Foundation is hard at work to get to a cure. You can help us move forward, too. Everyone who gets diagnosed should click on the red button at the top of our homepage, www.apbdrf.org, to sign up with the Patient Registry. Also on our homepage, you, your family, friends and colleagues will see an orange button that helps process a donation towards research expenses.
After Mom’s death, Dad was in his 60’s living alone. He didn’t do well. He was barely able to walk from his bedroom to the living room. He tripped and fell repeatedly and shuffled his feet with each step. Despite having had prostate surgery, he had bladder accidents every day. Although he slept 6-8 hours at night, he napped multiple times between breakfast and dinner.
No one offered the right diagnosis. The clues were there, however. A-P-B-D.
• A – Ashkenazi Jewish descent; Age 40-60
• P – Peripheral neuropathy (numbness, weakness, or tingling in the toes, fingers,
hands, and/or feet)
• B – Bathroom frequency beyond the norm, or difficulty with bladder control
• D – Diminished energy
When Dad died, I needed to know the answer to my parents’ mystery ailments. Although Jewish tradition prohibits autopsies, I requested one.
Over two months went by. Then, a pathologist at the Oregon Health Sciences University called with his findings. He had discovered microscopic particles in nerve cells throughout Dad’s body. He called them polyglucosan bodies. He said Dad had a very rare disease called Adult Polyglucosan Body Disease (APBD). It was 1991, and the cause was unknown.
In my next blog I’ll describe yet another family mystery.
I was in my 40’s. The strange problem began with some tingling at the end of one toe. I padded my foot so I could continue the running I love. But running would bring Crazy Toe from a state of tingling, to pain, to numbness. Over many months, the symptom extended along the length of Crazy Toe, to adjacent toes, to the ball of my foot, to my instep. Runners get these things, I figured.
The next clue that something was amiss: During my 50’s there were tiny changes in my urinary pattern. The time between trips to the bathroom got shorter. Starting the flow would take a few moments longer. I’d “go,” but have to return the bathroom minutes later to “go” again.
In my later 50’s, I started needing a mid-day nap to remain alert at work.
I saw the classic A-P-B-D indicators of Adult Polyglucosan body Disease, APBD.
• A – Ashkenazi Jewish descent; Age 40-60
• P – Peripheral neuropathy (numbness, weakness, or tingling in the toes, fingers, hands, and/or feet)
• B – Bathroom frequency beyond the norm, or difficulty with bladder control
• D – Diminished energy
I tried a quick saliva test, and my suspicion was confirmed. But unlike my other family members, I did not waste time with a maze of doctors, tests, useless surgeries, and ineffective medications. I had an answer and proceeded forward.
I directed my energy to helping the staff and volunteers in the APBD Research Foundation raise awareness among the at-risk Ashkenazi Jewish population. I connected with other APBD patients from around the world to form a support group. It feels great to be with others who understand what I’m going through. I’ve met awesome researchers who are hard at work in the US, Canada, Israel, Spain, the UK and other countries on research that will bring about a cure.
In three blogs, you’ve read about the A-P-B-D indicators for the disease that’s known as Adult Polyglucosan Body Disease, APBD. If you believe you have the A-P-B-D indicators, a simple saliva test now settles the question. Write to email@example.com to arrange for a test kit to be sent to your home. And if you have APBD, know that the APBD Research Foundation is hard at work to get to a cure. You can help us move forward, too. Everyone who gets diagnosed should click on the red button at the top of our homepage, www.apbdrf.org, to sign up with the Patient Registry. Also on our homepage, you, your family, friends and colleagues will see an orange button that helps process a donation towards research expenses.
As far back as age 37 I favored one leg, but I was still strong, could run, climb, do most everything required of a Hollywood photographer. But in 2001 I started falling, and in 2003 a friend asked why I was limping.
I saw a neurologist at Cedars-Sinai Medical Center in L.A., and the speculative diagnosis was MS. My gait and balance became progressively impaired with drop-foot and by age 49 I developed urinary incontinence.
2006 was a tough year. A right hand-arm tremor, so severe that I couldn’t serve or eat with that hand, added itself to the mix. And I started using a cane to try to prevent the multiple falls I was suffering.
The medical testing continued, still giving no answers. At UCLA, a doctor ran a “genetic test.” Again there was no diagnosis.
But a second doctor there, Dr. Brent Fogel, took an interest. After another genetic test, a muscle biopsy and a nerve biopsy, he definitively diagnosed me with APBD. I was 55 years old and my symptoms had gone on for 9 years.
Around the time of the APBD diagnosis, I began using a mobility scooter. Like many with APBD, I eagerly await the outcome of a drug trial at Baylor University Medical Center at Dallas, which is scheduled to be published soon.
Now I am fully paraplegic, cannot walk or stand. I have survived and, by sheer will, have kept my Mom and two sisters, all disabled and in poor health, off the streets. At age 60, I am reinventing myself.
I am turning my attention to teaching, empowering others and to world betterment. I’m working with the APBDRF to bring attention and support to APBD research. A documentary about me, “Life Through a Lens,” has just premiered in the Manhattan Film Festival. I hope viewers hear my message: Live life to the fullest, despite the challenges that come along.
In previous blogs, you’ve read about the A-P-B-D indicators for the disease that’s known as Adult Polyglucosan Body Disease, APBD. If you believe you have those indicators, a simple saliva test can settle the question. Write to firstname.lastname@example.org to arrange for a test kit to be sent to your home. And if you have APBD, know that the APBD Research Foundation is hard at work to get to a cure. You can help us move forward, too. Everyone who gets diagnosed should click on the red button at the top of our homepage, www.apbdrf.org, to sign up with the Patient Registry. Also on our homepage, you, your family, friends and colleagues will see an orange button that helps process a donation towards research expenses.
I’d heard for some time about Dr. Orhan Akman and his pioneering research into the nature and possible cure for APBD, Adult Polyglucosan Body Disease. It’s an untreatable, some call fatal, genetic disease with which I am afflicted. Based on what I’d heard about him and his luminous navigation of unchartered genetic frontiers, I envisioned Dr. Akman as a white-haired older sage, in the vein of Gandolf or Yoda. When we met, I saw a young, dark-haired man with steady brown eyes. He’s the right age to be my son.
We spoke about many things, including his family, his native Turkey, and APBD. I must admit that I got a little lost when he spoke of genetic mutations and such. He seemed relaxed and just a bit self-conscious when I took him outside to photograph him in the afternoon light. Then we headed to a gallery where I had a photo exhibit. He examined my work and expressed appreciation for it. I wanted to thank him in return for what he does, for forging a pathway of possibility and hope into the existence of uncertainty that is the world of APBD. I say to him a couple of the few Turkish words I know: “Sag olun.” “Thank you for doing what you don’t have to do.”
In previous blogs, you’ve read about the A-P-B-D indicators for the disease that’s known as Adult Polyglucosan Body Disease. If you believe you have those indicators, a simple saliva test can settle the question. Write to email@example.com to arrange for a test kit to be mailed to your home. And if you’re found to have APBD, know that researchers like Dr. Akman are hard at work, making progress to get to a cure.
First I stumbled on a path, and then I stumbled on a leaf. Now I stumble on molecules. I certainly never stumbled on the diagnosis which took four years of perseverance. It included five neurologists, seven MRIs, two CAT scans and about 50 blood tests. Within two weeks, the neurologist who finally figured it out had me in the only existing clinical trial for APBD. I followed the protocol religiously, out of sincere respect for the many lives that rest on the cumulative results. APBD symptoms have a certain variation in terms of age of onset and speed of progression. I wonder if the drug will be universally, or only selectively, effective. Or maybe not effective at all.
APBD is a discouraging, daily, uphill battle. My brothers provide encouragement; my girlfriend learns and offers a new kind of compassion; distant family members rally; friends hold my hand; strangers offer to carry; my swim coach innovates and guides; my dog offers comfort. Wheels, ramps and other workarounds are survival.
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