Current Age: 67
Onset of Symptoms: ~50
Age at Diagnosis: 66
“As a young girl I was always very clumsy. I fell often but it seemed to go away as I got older. I was better able to keep my balance until about the age of 50. Then it went downhill pretty fast. I was falling so often that I knew there was an issue.
Over the next six years, I searched for a diagnosis. I visited 12 neurologists to try to figure out what the issue was with my body. I had multiple tests including MRIs of my brain. These doctors from all over the world were unable to determine the cause. For the next ten years or so, I resigned myself to the thought that I had muscular dystrophy or multiple sclerosis but that I might never really know.
This all changed with a phone call from my brother, who explained that he went to a doctor who looked at him and said that he has APBD. Being a former nurse, I looked into the disease and saw that the symptoms fit with what I was experiencing. I then took a saliva and blood test to confirm.
Since my diagnosis was confirmed, my life still remains challenging but I now have an answer to why my body was not functioning properly. I have a great sense of connection to the other members of the APBD chat group that meets monthly over the phone. I appreciate having the connection with others facing the same challenges. I am hopeful for the future and I am very excited about the upcoming drug trials since the preliminary results seem so promising.”
Kathi’s story is part of the APBD Research Foundation’s, #MyAPBDstory campaign, to raise awareness and funds on Rare Disease Day, February 28, 2019.