Medical Mystery #1: My Mother’s Unexplained Ailments
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 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.