Bill and His Wife, Maura
Bill knew he had the mutation that can cause accumulation of misfolded Also known as TTR protein. Produced by the TTR gene. The disease, ATTR, occurs when a specific DNA mutation occurs in the TTR gene that causes the liver to produce the TTR protein in a misfolded form. This misfolded protein can build up in the body and lead to disease-causing nerve and other organ damage., which affects the nerves, heart, kidneys and eyes. Indeed, he had watched his own father suffer in his later years from this devastating disease, Also known as ATTR. A rare genetic disease caused by accumulation of misfolded transthyretin (TTR) protein, which affects the nerves, heart, kidneys and eyes. Patients can develop amyloidosis by inheriting the faulty TTR gene from a parent (hereditary or hATTR) or due to a natural form of this protein, without genetic mutation (wild-type or wtATTR). NTLA-2001, Intellia’s first investigational therapy, is being evaluated in a Phase 1 clinical trial as a treatment for people who have hereditary ATTR with polyneuropathy. (Also known as ATTR. A rare genetic disease caused by accumulation of misfolded transthyretin (TTR) protein, which affects the nerves, heart, kidneys and eyes. Patients can develop amyloidosis by inheriting the faulty TTR gene from a parent (hereditary or hATTR) or due to a natural form of this protein, without genetic mutation (wild-type or wtATTR). NTLA-2001, Intellia’s first investigational therapy, is being evaluated in a Phase 1 clinical trial as a treatment for people who have hereditary ATTR with polyneuropathy.).
So, when he was in his 50s, Bill was not surprised when he started noticing carpel-tunnel-like symptoms in his wrists.
“I knew,” he says. As a practicing pediatrician with a thriving practice just outside New York City, Bill was reticent to accept the implications of his amyloidosis diagnosis.
As his health declined over the next couple of years, Bill was forced into an early retirement from the career he loved. He began to require a wheelchair due to sensorimotor peripheral neuropathy, a condition where the nerve cells become damaged.
Bill and Maura, his wife of more than 40 years, went in search of the medical care he now needed and found specialists up in Boston. With their three children grown, Bill and Maura permanently moved to their vacation home in the rural Berkshires of Massachusetts.
As they learned to cope with the constantly increasing limitations caused by his disease, Bill and Maura found themselves in a seemingly endless home renovation. They added ramps to the entryway and made the bathrooms handicap-accessible. They eventually had to redo the whole floor plan, making their living room and kitchen part of a giant loop.
Everything else had to change, too.
I get up every day to show our kids that life doesn’t stop with a diagnosis.
“His whole life now is full of equipment,” Maura says, as she pauses from helping Bill with his daily arm-strengthening exercises, her glance darting from Bill’s wheelchair, to his crutches and over to his special form-fitted recliner.
Despite all this, Maura gushes lovingly that Bill is still the most positive person she knows. Bill, though, unhesitatingly acknowledges that he couldn’t do all this without her.
What the Future Holds
Maura has turned her experiences as Bill’s caregiver into a patient advocacy and geriatric management business. She is now a consultant for elder patients and people with newly diagnosed diseases, helping identify where to access medical care, how to keep doctors’ appointments in order and even how to organize a home to make it easier to navigate. She is glad to pass on some of the things it took her years to learn, in the hopes of making others’ lives just a little easier.
Surrounded by photos of friends and family, Bill shares, “I get up every day to show our kids that life doesn’t stop with a diagnosis. You don’t stop living.”
Bill has made numerous connections through patient advocacy and support groups since his diagnosis over a decade ago. His disease continues to worsen, but that hasn’t dampened his enthusiasm for emerging research, which he believes is the wave of the future.
Bill knows at least one of his three sons may have the ATTR mutation that could lead to disease symptoms with age. He tells the research community, “If you remember one thing, remember my sons.”
I am amazed by the dedication and passion of the research team at Intellia working on these possible Also called gene editing. Genome editing collectively refers to a set of technologies, including CRISPR/Cas9, that can be used to cut and modify DNA. Genome editing uses systems to make the DNA change inside the cell. These cells can be edited in the body (in vivo) or outside the body (ex vivo) from a patient or donor. treatments.