How caregivers prepare for the future of their adult son without them
Carers Karen and Jeff Goff of Columbus, Ohio, are planning a day when they will no longer be able to care for their adult son, Danny.
Katherine Illingworth, 39, knew something was wrong the moment her son, neurologist, entered the room.
Illingworth requested a referral from his son’s pediatrician based on instinct. It took George a while to start walking, she said. He didn’t look stable as he started. At four years old, George fell frequently and was unable to keep up with a friend of his age.
His diagnosis was an intestinal punch: Charcot-Marie-Tooth Disease 4C is a rare genetic neurological disorder associated with early onset spinal symptom osis. As the condition progresses, George may develop other symptoms such as cataracts, hearing loss, bone or joint abnormalities, cognitive problems, and respiratory problems.
The doctor provided a ray of hope and told Illingworth that it is likely that treatment for his son’s rare disease has already been invented. catch? It was stuck in the “Death Study Valley.” Illingworth has discovered that neurologist predictions are true. Her son’s treatment was a number of clinical trials out of reach and a $6 million clinical trial.
The situation in Illingworth is too common. According to the FDA, more than 7,000 rare diseases in the United States have affected more than 30 million people. Half of those patients are children. Most of these conditions do not have treatment. Many of the treatments invented to treat rare diseases do not acquire capital to get to the market, and there is little place for parents to turn around.
Two months after George’s diagnosis, Illingworth took a deep breath, opened the Tiktoc app on his phone, and launched a fundraiser.
One in ten Americans have a rare illness. In most cases, treatment is out of reach of millions of dollars.
For parents of children with rare diseases, advocacy can become a full-time job, with the outcome being either life or death.
Josh Carter, grandson of former President Jimmy Carter, is one of those parents. His youngest son was diagnosed with inflammatory bowel disease, which had an extremely early onset at the age of seven months.
“Even if I had a diagnosis, it wasn’t too close to getting treatment,” Carter told USA Today. The journey to find the right medicine for his son was “incredibly taxable”, “occasive at times”, “every consumption”.
The patients’ families come in and organize Bake sales and 5K races in an attempt to raise the millions of dollars needed to push new drugs through clinical trials. More parents take the Illingworth approach and raise money by posting on social media. But those efforts are not sufficient.
Cheryl Herbert, vice president of marketing and communications at the National Agency for Rare Disability, has a teenage daughter with a rare disease. The most effective social media campaign for her daughter’s treatment raised about $8,000, she said. This is a reduction in buckets for clinical trials that cost at least $3 million.
What these families really need is the buy-in from corporate America and public-private partnerships, Herbert said.
Illingworth knows that opportunities in her son’s treatment are better than most people because of her resources. Illingworth’s husband works full time and is able to support families, including childcare – she works in advocacy work without pay. Her network of private school colleagues and pure families led to massive donations. “The economic inequality in this is horrifying,” Illingworth said.
“To imagine a mother with a terminally imaginary child, I know that she has a few years left with her child and is treatable. On the weekend, will she sell for $300 against $7 million?” Illingworth said. “It’s very wild bar.”
The path to finding a cure: “It took over our lives.”
Many parents of children with rare diseases don’t even reach the fundraising stage.
A study by the Everlife Foundation of rare diseases shows that to obtain an accurate diagnosis, patients with rare diseases who have an average of 6 years or more years are required to receive an accurate diagnosis, with an estimated 30% of children with rare diseases die before their fifth birthday.
The emotional sacrifices and pressures for these parents are enormous, says Kara Kshinir, a mental health therapist in New Jersey, serving families of children with disabilities.
“It really sets them up to live from a place of parenting, which is not a joy, but a job,” Kusinir said.
When a family member gets diagnosed, there is usually some relief, said Annie Kennedy, chief of policy, advocacy and patient engagement at AlyLife. That’s when the conversation with the doctor is directed towards a solution.
Carter said her son’s doctor took a trial and error approach for two years before discovering that the treatment worked. The drug costs around $300,000 a year, and his family had to fight insurance to cover it, he said. Carter said he felt more pressured than ever to maintain his job because of his health insurance, and his wife worked 24 hours a day to care for his son and defend his care.
“It took over our lives,” Carter said.
But thankfully, his son has been in remission ever since. Through a similar journey, Carter has a foundation that helps guide other families of children with inflammatory bowel disease that developed very early on.
For rare diseases without known treatments, the path to treatment can be much longer. The national organization for rare disorders has over 300 patient organizations, many of which are started by parents, and patients and their families come together to discuss the same rare disease and work towards treatment. It often starts with finding academic researchers who can do natural history research, says Tracey Sikora, vice president of organizational research and clinical programs. From there, researchers need to find models – often mice or cells – to test different treatments that cure the disease or reduce its effectiveness.
Once treatments are found, these tests will eventually be tested in humans. However, the process can take decades and in most cases it requires buy-in from biotechnology or pharmaceutical companies and/or Congress funds. She said that it’s nearly impossible for families who raise their own funds to support multi-stage clinical trials.
“It’s extremely difficult to create a business model surrounding treatments that can only be sold to 12, 50 or even 1,000 people,” Illingworth said.
Care for a rare and ill child often requires specialists, high-cost medications and medical devices, dietary supplements, extra childcare costs, and frequent trips to off hours. Health insurance issues are also common, Kennedy said. Many families set up fundraisers for these daily expenses, in addition to fundraising for drug development.
Crowdfunding via Tiktok is likely not supporting clinical trials, but the videos will help spread awareness and connect rare disease communities, Sikora said.
Still, trying to fund clinical trials in silos is not the answer, Herbert said.
“We’re not fighting each other,” Kennedy said. “We are all one community.”
Illingworth hopes to raise more than $180,000 this summer, and another $200,000 by Labor Day. She then said it would take six months to raise another $500,000. Multiphase clinical trials are even more expensive.
“At that rate, $6 million is a really long time,” she said.
If everything goes according to the plan, Illingworth said he would receive gene therapy when George was eight years old.
But even so, her work is not done. She has met too many families in Tiktok and struggles with her. Illingworth said her heart is now defending.
“There’s no universe where I can raise money for my kids and turn around and wish you good luck,” Illingworth said in tears in a recent social media post.
“I think our group has strength.”
Madeline Mitchell’s role in covering women and caregiving economy at USA Today is supported by partnership with extremely and Journalism Funding Partner. Funders do not provide editor input.
You reach Madeline with memitchell@usatoday.com and @maddiemitch_ x.
