When Greg first learned about a rare disease affecting his brother, he had no idea that the illness would come to define his own life, or that his search for answers would take him on a journey going back generations to his Irish ancestors.
Greg grew up in an active family. As a climbing instructor, guide and designer of outdoor equipment, his love of the outdoors was at the center of his life. So when the keen rock climber started having nerve problems in both wrists that made it difficult for him to grip tightly, he was crushed and knew he needed help. At first, he thought it was carpal tunnel caused by the repetitive flexing needed in the sport. But after further testing, Greg was diagnosed with polyneuropathy of hereditary ATTR amyloidosis (hATTR) — the same disease that had robbed his beloved older brother of his independence, ability to function and eventually, his life.
“I was absolutely devastated when they told me I had what my brother had. At first, I just refused to accept it,” said Greg. At the time, while he knew hATTR amyloidosis was an hereditary disease, he didn’t know that the genetic link was directly tied to County Donegal in Ireland, the home of his family for generations. But with the support of his wife and family, Greg vowed to do everything he could to learn about the condition.
He consulted resources such as hATTR Change the Course and learned that, in people with hATTR, an abnormal protein called amyloid builds up in multiple organs of the body where it should not be. This amyloid buildup causes these organs to stop working normally. Symptoms of hATTR are varied and include nerve damage that can cause digestive problems and changes in balance and coordination.
“hATTR amyloidosis is a rare, and ultimately fatal disease that often affects the nerves, kidneys and heart,” said Daniel Lenihan, M.D., professor of medicine at the Washington University School of Medicine in St. Louis and a world-renowned expert on hATTR. “The condition can have multiple symptoms that can seem disconnected, and a genetic test can confirm diagnosis.”
Through Greg’s research, he discovered that hATTR amyloidosis is more common in people with Irish, Portuguese, Japanese, Swedish, French or West African ancestry. Being very proud of his Irish roots, he decided to dig further. He was shocked to uncover that the disease may have impacted up to 600 people in his extended family, dating back three centuries and traced back to County Donegal.
The genetic mutation most commonly associated with people of Irish descent – T60A -- has been identified around the world in areas of high Irish immigration, including the United States. It has been traced to one person – Connall Gulban, for whom County Donegal was named[1]. The former Deputy First Minister of Northern Ireland Martin McGuinness, who was diagnosed with amyloidosis in 2016 and died from the disease in 2017, also had links to Donegal through his maternal lineage.[2]
Knowing that the disease could impact other family members, Greg began to take a closer look at his family tree. Discovering that his grandmother had died young from symptoms similar to his and his brother's, Greg began to read family journals, uncover parish and church records and delve deeper into the past.
“It’s amazing to me that this condition has had such an impact across so many generations of my family, and on other families just like mine,” said Greg. “My ancestors had no idea they were carriers of this gene, but I’m grateful that we know more about it today.”
“For the first time, there are now treatment options that can slow hATTR amyloidosis with polyneuropathy from getting worse, and the earlier it is diagnosed the better,” said Dr. Lenihan. “Now, when people are diagnosed with this condition, they have choices in how to manage their symptoms, so it’s more important than ever for people who are at risk to find out whether they have the gene for this condition.”
With treatment, Greg is doing much better. “I’m a positive person, and I’m now able to enjoy life just that little bit more now that I know I’m doing everything I can to fight this disease.”
If you suspect you or your family may have hATTR amyloidosis, visit hATTR Change the Course to learn more about free genetic testing and other resources.
Are you a patient, family member or caregiver that has been impacted by hATTR amyloidosis? Contact Akcea patient advocacy at [email protected] to help empower and educate others by sharing your story.
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[1] Reilly MM, Staunton H, Harding AE. Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study. Journal of Neurology, Neurosurgery & Psychiatry. 1995;59(1):45-49. doi:10.1136/jnnp.59.1.45.
[2] Cullen P. Martin McGuinness receiving treatment for amyloidosis. The Irish Times . https://www.irishtimes.com/news/health/martin-mcguinness-receiving-treatment-for-amyloidosis-1.2933722. Published January 12, 2017. Accessed July 18, 2019.
