Local author, mother discuss living with degenerative neurological disorder
Freidreich’s ataxia affects approximately 1 in 50,000
Over the course of 30 years, Freidreich’s ataxia has robbed Jamie Cusick of her sight, her mobility and much of her hearing and speech. But it hasn’t robbed her of her will or her voice — and the 37-year-old Hughesville resident is using both to spread awareness about the rare degenerative neurological disorder.
“FA sucks,” Jamie Cusick said, during an interview alongside her mother, Cheryl Cusick, who helped interpret Jamie’s slurred speech. “We’re trying to find a cure and we need help doing it — donations to FARA.”
FARA is the Freidreich’s Ataxia Research Alliance, a national nonprofit “raising funds for research, promoting public awareness, and aligning scientists, patients, clinicians, government agencies, pharmaceutical companies and other organizations dedicated to curing FA and related diseases,” according to its website.
For her 37th birthday, Cheryl Cusick said Jamie decided she wanted to spread awareness about the condition, which affects approximately one in every 50,000 individuals, according to FARA.
“We’re reaching out to anybody to get the word out there a little bit, and let them know that this condition exists. We don’t have a cure and we don’t have a treatment, but we’re looking,” Cheryl Cusick said. “We’re still hoping for a cure.”
Freidreich’s ataxia, or
FA, is a genetic degenerative neurological disorder that impacts the body’s ability to regulate iron in the body, leading to the degeneration of nerve cells impacting the heart, spinal cord and peripheral nerves. Typical onset begins between 5 and 18 years of age, according to FARA.
Cheryl Cusick said she first noticed her daughter was having difficulties with balance and energy at the age of 7, while she was playing t-ball.
“She ran flat-footed and we noticed she ran weird, she put her foot down first,” Cheryl Cusick said. “I said, ‘She’s all right,’ but my husband said no, and so we called the pediatrician.”
It took several years of visiting various specialists before Jamie was correctly diagnosed, and it wasn’t until she was 18 that the diagnosis was confirmed via DNA analysis.
Gradually, Jamie’s symptoms worsened, and by the age of 11 she had her first wheelchair, which she used mainly when she had to travel long distances. By the age of 20, she was confined to her wheelchair.
“Jamie went from walking to dragging herself up and down the stairs to using a walker, then a wheelchair,” Cheryl Cusick said.
FA often begins with difficulties in balance and coordination and frequent tiredness. Over time, individuals typically lose all ability to walk, have difficulty speaking and suffer sensory impairment, skeletal abnormalities, cardiac problems and diabetes, according to the Muscular Dystrophy Association.
There is no cure for FA, only managed care for some of the symptoms, but Cheryl Cusick is hopeful some drugs currently in the experimental phase may be able to stop or even reverse the neurological degeneration.
“There’s a new compound, RT001, and it’s the first compound that has shown promising hope of stopping Freidreich’s in the first round of clinical trials,” Cheryl Cusick said.
FA occurs when the body is unable to produce a protein called frataxin, which helps utilize iron in the body and impacts energy production in cells, according to FARA.
The condition can also lead to heart problems and diabetes, according to FARA.
FA is an autosomal recessive trait, and approximately one out of every 100 people is estimated to be a carrier but show no symptoms. If two carriers have a child, there is a 25 percent chance their child will develop FA.
Cheryl Cusick said she and her husband learned after Jamie’s diagnosis that they are both carriers, as is their son, Jeff, Jamie’s older brother. Jeff’s wife is not a carrier, Cheryl said, and so his daughter has a 50 percent chance of being a carrier.
Jamie was determined to live as full a life as possible, even as FA took more and more of her independence away, her mother said. She attended the College of Southern Maryland, and was able to graduate last year with highest honors with an associate’s degree in criminal justice.
“The last few credits were a big struggle,” Cheryl Cusick said. “How do you do math in your head when you can’t hold a pencil or a calculator? But she got through it, the college worked with her.”
Studies performed in the 1980s and 1990s found that the typical lifespan of FA patients was 30 to 40 years after diagnosis, but recent medical advances have likely extended patients’ lifespans.
Jamie has been able to connect with an online community of individuals with FA, which has helped to find other people with her condition, Jamie said.
Jamie still enjoys listening to music and audiobooks on a reader from the Maryland Library for the Disabled.
“It can change the tone, speed and the volume, so she enjoys reading like that,” Cheryl Cusick said.
She also enjoys spending time in the family swimming pool.
She has written six books — fiction and nonfiction — about life with FA, as well as a few books of poetry. More information about her publications can be found on her website at jlcpublications.com.
Hughesville resident Jamie Cusick has published several books about living with Freidreich’s Ataxia, a degenerative neurological disorder.
Jamie Cusick, right, and her mother Cheryl Cusick discuss Jamie’s books. Jamie Cusick was diagnosed with Freidriech’s Ataxia, a degenerative neurological disorder.