A Jewish Genetic Disease Prompts Life Reinvention
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 info@apbdrf.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.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.