Mary and Dick had almost 50 years walking arm-in-arm in marriage and in life when she began holding on tighter than she ever had. Her pace slowed. She pulled on her husband’s arm. It was a subtle change that would give way to other curious happenings around their home. She was the consummate organizer, planning trips that would take them all over the world, managing the bills, the meals, the social activities. She was an education champion and elementary school office manager. Now, everything was taking more effort. Bills went unpaid. Things went missing. She couldn’t plan international trips. She was frustrated. She had fits of anxiety and anger, uncharacteristic of her naturally easy-going way.
It was only in hindsight that her diagnosis began to make sense. Six years before a neurologist would casually offer his suspicions – Huntington’s disease – there had been a fall off a curb, and she’d tell her husband that her leg just wasn’t there when she stepped out. She also had a face plant during another fall. And then there was another fall.
Some families are just finding out that the Huntington’s gene has been part of their family legacy and have joined the modern-day fight to understand the disease and stop its spread.
The HD gene was first cloned and the mutation identified in 1993. The gene on chromosome 4 encodes a protein called huntingtin. Its normal function in the brain is still not known. Huntington’s disease is the most common of the so-called trinucleotide repeat disorders. The abnormal Huntington’s gene contains an expanded and unstable DNA segment. Up to 35 repeats of the CAG sequence is normal, and more than 40 results in the disorder. There is a gray area between 36 and 39, with some, but not all, people developing the disease. This expansion causes the body to produce longer than normal huntingtin protein. The longer protein seems to interfere with and destroy a specific group of brain cells in the striatum that regulate movement, thought and behavior. The psychiatric symptoms in HD are as vexing and disabling as the uncontrollable dance-like movements.
It is a devastating diagnosis even when it is known in families. But Mary’s parents had no such symptoms. “I don’t want to hear that,” she said during the visit. In March of 2010 the laboratory tests came back positive for Huntington’s.
Their lives would be forever changed. Dick became a caretaker. Their two daughters would now face their own questions. They have a 50 percent chance of developing Huntington’s disease. Mary hated the attention. Doctors poking and prodding and asking endless questions. They would soon learn from distant relatives that their father, the youngest of ten, had several siblings who developed involuntary movements and behavioral problems. He had no such problems himself.
Mary signed on to the research program at the Memory and Aging Center. Dick would also become an active member in support groups there. In time, his wife lost her ability to talk and he’d have to get creative during meal time. She had no interest in eating. By the time she passed away in 2015 Mary weighed as much as she did in elementary school. She didn’t have the dance-like movement that is characteristic of the disease but her body would seize up with the rigidity of the red-coated British guards. There was neither violence nor anger in Mary’s nature – not in life before HD or after. They rescued a dog named Flo, and the three of them would go everywhere together.
There were times that Dick was exhausted, frustrated, angry and impatient. “It’s the disease, not the person,” he learned rather quickly. He’d count to ten or leave the room. He opened his doors to let others in to help. He’d get and give perspective at his support groups. He learned the importance of self-care. Be mindful. Be grateful. Stay in the moment. What he’s learned about Huntington’s disease is that every person’s symptoms are variable. No one is the same. Even with too many repeats scientists still don’t know the who and when of this disease.
During the last 15 months of Mary’s life there was weekly hospice care including a nurse case manager, social worker, spiritual guide, and volunteer. “If grief is the price of love, then life with Mary was a deal,” he said. “I slowly learned that caring for her every need was an honor, not a disagreeable or distasteful task. Yes, it was tough, and I had more than a few moments of impatience and anger, but it was the right thing to do, and in the final analysis it was a labor of love. The hospice team was a Godsend.”
Dick is active in the Huntington’s Disease Society of America (HDSA) and regularly attends a support group. He also spends one afternoon a week visiting an HD patient. They have become close friends.
Jamie Talan is an Atlantic Fellow at the Global Brain Health Institute, a collaboration between University of California, San Francisco and Trinity College in Dublin. She will be spending several months at UCSF’s Memory and Aging Center writing about the inner workings of the brain and giving voice to patients and the doctors, nurses, psychologists, geneticists and researchers involved in building the foundation for a whole body of non-Alzheimer dementias that are often missed, lost or ignored.