The story of Greg
My story began many, many years ago. I asked a Geneticist once, “how do you know how old a mutation is?”. And all he could say was, “genealogy”. So, I began a journey that would find those ancestors, those individuals, that shared with me the mutation of a gene on the 18th chromosome that causes Hereditary TTR Amyloidosis. The rare disease that took my Grandmother at age 58, her mother at age 58, and the one that forced my brother to wither and die a horrible death unable to digest any food. I too have this mutation, as does my sister, and sadly so does my son.
So, this mutation has come from my mother, her mother Cora, Maggie, Mary, John, and my 4th Great Grandfather Patrick, born 1750 in Donegal, Ireland. It did not start there, it’s much older. So, think about the number of children and children’s children are carrying this mutation. This is just 1 of 130+ mutations of the TTR gene that can cause Familial Amyloidosis. It is believed that my mutation, the Thr80Ala mutation, originated in Donegal. In fact, some stories carry it back to the founding of Donegal by Conall Gulban MacNéill, a son of the great Irish King, Niall of the Nine Hostages in the 5th century CE.
It is a long story and I have the disease. I’m the product of so many generations of carriers of this mutation. So, I’m numb, my heart is slowing, I have Polyneuropathy and Cardiomyopathy. My Autonomic nervous system is affected with erectile dysfunction, a cyclic constipation and diarrhea. I grew up in the mountains of Colorado. I was a mountain guide, rock climbing instructor, worked in the Outdoor industry for 45 years. Now I have no balance, walk with a heaving chest trying to catch my breath. Carpel Tunnel surgery, Achilles Tendon rupture, fusion of my Cervical spine, my Lumbar spine, and looking at another surgery of those vertebrae in-between.
I’m alive to tell this tale. My brother died at 64, I’m already 68. My cousin finally succumbed at 73. My brother saved my life. He was 9 years my senior and when he was finally diagnosed (a major problem with this disease) we started our research. Because I also have Psoriatic Arthritis, I convinced my Rheumatologist to put me on Diflunisal, and old NSAID that can bind to the bad TTR protein and remove it before it does damage. Then came the RNA therapies. I’ve been on one of them, Tegsedi, for over two years now. I no longer use a cane to aid in my balance and the progression of the disease has slowed or stopped. I am looking at loving my family for many years to come.
Many people have helped me along this tenuous journey. Nobody should take such a journey alone. So. I am now spending time as an advocate and mentor. I speak to medical professionals and to newly diagnosed patients. With the advancements in therapies there is a hope that this (not so) rare disease could become chronic just like my arthritis.
*Find others with hATTR on RareConnect, the online platform for people affected by rare diseases