Current Age: 60

Symptoms onset: ~40

“At approximately age 40 I started to feel different, I wasn’t sure what it was.  I had some fatigue, some balance issues, but I kind of ignored it.  I had a bad back, which made me a little bit weak, so I blamed a lot on my bad back.  I had my first urinary tract infection at age 50 and then several more.  All were treated and got better. 

At approximately age 52, I saw the orthopedic surgeon about my back pain and during that physical exam, he noticed that I had clonus, a type of neurological condition that creates involuntary muscle contractions, and A positive Babinski.  That visit started the ball rolling,  I had an MRI that strongly suggested MS.  I had a spinal tap that proved it was not MS, and then I saw another neurologist at Yale who thought I had some kind of other neurological disease.  He then referred me to a geneticist who did a genetic panel and within that genetic panel, it showed that I had APBD.

My current symptoms are chronic urinary tract infections and much difficulty with balance.  I walk with a cane and have much weakness on the right side but really both legs.  I try to swim daily — meaning I try to move around in the water with some flotation devices.  I can drive and I can walk around my house without a cane although at some point soon that probably will change just for safety purposes.  I try to pretend that the cup is half full. I feel it is better to be that way.  I had my husband tested before I told my children what my diagnosis was.  He is not a carrier; therefore although they are carriers, they have no chance of getting this dreadful disease.”

Lori’s story is part of the APBD Research Foundation’s, #MyAPBDstory campaign, to raise awareness and funds on Rare Disease Day, February 28, 2019.
Please visit this webpage to learn more and click here to donate.