Our search for answers about hATTR amyloidosis led us to Ireland and back
My late brother and I fought to understand this rare genetic disease
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Note: This column describes the author’s and his late brother’s own experiences with off-label diflunisal. Not everyone will have the same response to treatment. Consult your doctor before starting or stopping a therapy.
As an introduction, it’s important to know that I’m just a guy with a rare disease. Saying its name, familial amyloid polyneuropathy, or FAP (also known as hereditary transthyretin amyloidosis with polyneuropathy, or hATTR-PN), is a mouthful. I like talking about it, though, to share my experiences with others and help them cope with their own diagnoses.
My part of our family’s journey started in the spring of 2002, when I was returning to Washington State, our family’s former home, for my daughter’s college graduation. Our extended family would finally be together for the first time in years, since the death of my father. It was extra special because we knew my future son-in-law planned to propose to my daughter, using his grandmother’s ring.
We were gathering in front of the stadium, tickets in hand, when I looked down the path and saw a skinny, older man yelling something while making his way toward us. A cane clacked on the uneven ground, and his wife’s arm helped with balance. The man’s balding head looked vaguely familiar, and then I realized it was my brother. I’ll never forget seeing him in that condition. The horrified look on my mother’s face said it all. I knew then that this would be the last time we’d all be together.
My brother, Richard, who was 59 at the time, was my hero and mentor. He was 10 years my senior and had lost his 7-year-old brother to leukemia six months before I was born. So he felt that, in a sense, I was the replacement brother that must be watched over and kept safe.
It was hard to see my once vibrant and athletic brother, the guy who taught me so much, now looking like a walking skeleton. It had been a year or so since I’d last seen him, and I knew he’d been ill, but the extent of it was devastating for me.
The doctors initially had no answers for him — no diagnosis and few ideas. In the ensuing months, the word “amyloidosis” eventually came up. There were many varieties of the condition, doctors said, some more lethal than others. There wasn’t much they could do about it, though. Finally, in 2003, a genetic test revealed the culprit: It was FAP.
Tracking our mutation
With me as his helper, my brother started researching the disease. He lived in our hometown of Boulder, Colorado, and I was in Syracuse, New York. At the time, the hereditary form of the disease was considered extremely rare, but some research into it had already been conducted. It is a genetically inherited disease, so someone in our family had it, but it probably went underdiagnosed.
Further exploration into my brother’s genetic testing revealed that a specific TTR mutation produced a faulty transport protein that broke up into waxy clumps known as amyloid deposits that clogged and stiffened many parts of his body. His particular mutation (previously known as T60A and now known as T80A) originated on the northwestern coast of County Donegal in Ireland. My father is of German heritage, but my mother’s people came from Ireland. And there it was: an Irish gene mutation.
It’s funny when a journey starts taking an unexpected direction. (Both of us brothers were outdoor guys, and we knew well the twists and turns and bushwhacking of Colorado’s mountainous trails.) But what to do? Heart and liver transplants?
Then another discovery happened. A 2004 study found that derivatives of a decades-old NSAID, diflunisal, might function as TTR stabilizers and inhibitors of fibril formation. It was an amazing ray of hope for us, as if our proverbial trail had taken a positive turn. At least it might give us some time to catch our breath.
My brother started taking diflunisal immediately, and although I hadn’t yet been diagnosed, I cajoled my rheumatologist into switching me from ibuprofen to diflunisal, just in case. (Note: Diflunisal is an oral medication that’s been investigated as a potential treatment for FAP and is sometimes used off-label to slow disease progression in this patient population.) Unfortunately, though, my brother’s condition continued to worsen, and he eventually passed away from kidney and heart failure in 2007, at the age of 64.
My solo trail continued up the mountain, and I still had a long, uphill battle to fight. Trying to get my doctors to even realize what hATTR amyloidosis was and how to treat it became my own personal fight. Achieving widespread recognition of the disease became my passion. After a few incorrect diagnoses of unrelated conditions, I was finally diagnosed with T60A hATTR amyloidosis in 2014, after a long-sought-after genetic test.
And so my journey continues.
Note: Amyloidosis News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Amyloidosis News Today or its parent company, Bionews, and are intended to spark discussion about issues pertaining to familial amyloid polyneuropathy.
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