By Paula J. Owen (Source)

It is a rare, inherited, progressive disease affecting one in 50,000 that results in loss of ambulation six to eight years after diagnosis and risk of premature death, with an average lifespan for those who have it of 35 years old.

Local attorney and politician Nicholas J. Carbone was diagnosed with Friedreich’s ataxia at 12 — when he was still able to walk. He is now 30.

Mr. Carbone is one of 10 people living with Friedreich’s ataxia chosen from across the country, and the only one from Massachusetts, to testify at a recent meeting of the U.S. Food and Drug Administration in Washington, D.C., attended by more than 25 FDA officials, more than 25 medical researchers and those from pharma, and 140 patients and family members.

There are no proven treatments or cures for the life-shortening neurodegenerative disease. Friedreich’s ataxia is a “multi-systems” disease – caused by mutations in a single gene frataxin – that attacks the nervous system and organs, including the heart and pancreas, and causes fatigue, loss of balance and coordination, and affects, vision, speech and hearing. Early death is most related to advanced cardiac disease, congestive heart failure and arrhythmias, according to the Friedreich’s ataxia Research Alliance.

Despite the disease, Mr. Carbone remains extremely high functioning at a standard even those without any physical challenges would have difficulty keeping up with, in part, he says, because of self-directed treatments such as vitamins and exercise, and also medications for his cardiomyopathy. He says having people depend on him with his work as an attorney at his firm in Fitchburg and as a politician also helps and reminds him he needs to slow the progression of the disease so he can reach his goals of having a family one day, buying and remodeling a house, pursuing politics on a national scale and travel.

Mr. Carbone’s law partner, Donovan G. Boyle, 35, of Westminster, said Mr. Carbone’s fierce independence, drive to constantly better himself academically and personally, positive attitude, and large supportive family and network of friends are all ingredients in his success.

“I never see him struggling to the point he needs me to step in and assist,” Mr. Boyle said. “I know that he has challenges, but he has done so well and overcomes. He is one of the most positive people I’ve ever met, despite what he is going through. His parents built a home in New Hampshire and built him a side apartment that is handicap accessible, but he refuses to live there because he wants to fight it out and be totally resilient. He could take the easy way out, but he chooses not to.”

Mr. Carbone, who lives in Fitchburg with his girlfriend, also serves on the Fitchburg Disability Commission and the government relations committee of the Worcester county bar association, teaches a law course at Fitchburg State University and served one term from 2012-2014 on the Fitchburg City Council – the youngest at the time to be voted to that post – and one term on the School Committee.

However, Mr. Carbone says his greatest aspiration is to walk, again.

415 thoughts on “Rare Disease Patient and Lawyer: “I Want to Walk Again””

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