Theresa V: A Hereditary Disease, an Insurance Gap, and a Fight to Afford Treatment

Theresa, a mother in Michigan, was diagnosed with Fabry disease, a rare genetic condition, in 2024. She takes one pill every other day to treat the disease, at a cost of about $1,865 per pill. Her overall treatment costs about $315,000 a year, and she also needs regular imaging and testing to monitor the disease’s progression.

Theresa’s father also had Fabry disease, but he was not diagnosed until he experienced a significant cardiac event. Ultimately, he died from the disease. That experience led doctors to test Theresa, which is how she learned she had Fabry at a younger age, giving her the chance to take preventive measures and try to keep the disease from progressing as it had for her father.

Theresa left her job in February, choosing to spend the summer with her daughter before starting a business of her own. Leaving also meant losing the employer-sponsored medical, dental and vision insurance that had covered both of them. What followed was a patchwork of insurance, charitable assistance and out-of-pocket payments that became increasingly difficult to navigate.

After her diagnosis, Theresa had connected with the National Organization for Rare Disorders, known as NORD, which helped cover medical expenses related to her Fabry disease. When she lost her insurance, she contacted the organization again because she could no longer use the copay assistance program that had helped her afford her medication.

NORD offered to pay the premiums for an insurance policy Theresa selected. She could afford coverage for herself, but not for her daughter, so she enrolled her daughter in a direct primary care practice instead.

NORD also continued helping with Theresa’s medical expenses. She would receive statements from the university where she receives care for Fabry disease and forward them to NORD, along with explanations of benefits from her insurance company. But NORD’s assistance came through separate funds for her medical expenses and her insurance premiums. “I was really trying to track what’s what,” she said.

About eight months after NORD began helping with her medical expenses, Theresa learned that the funding allocated to her for the year had run out. Then the assistance covering her insurance premiums ran out too. She did not learn that until 10 days into the month, leaving her to pay several hundred dollars of that month’s nearly $600 premium herself. Then, she received a collections notice for $1,964.42.

Theresa still owed the university, but she could not determine exactly how much. Each month she would receive a statement, send it to NORD, and wait for the payment to be applied. NORD might tell her it had sent $673 to the university, only for the university to send another statement showing a different balance. Theresa tried to make sense of what she owed by waiting for two statements in a row to show the same amount. That never happened. “I’m getting different amounts on each statement,” she said. “And then suddenly, I’m getting collections letters.”

Meanwhile, Theresa is trying to find a way to pay for her daughter’s health care, too. “I can’t afford it,” she said.

Theresa has since been unemployed, and on her copay assistance application, she was able to write “unemployed since February, 2026.” “I was approved the same day,” she said. The program also switched the pharmacy that mails her medication. “The new pharmacy is much better than the previous one,” she said. “I didn’t experience a lapse in my medication at all. It was seamless.” Theresa said she is grateful for the support. “I’m so thankful for these organizations because we all know how much our government is doing to help.”

Fabry disease is progressive, and Theresa worries that losing access to treatment could put her health at risk. She also worries about what will happen to her daughter if she can no longer afford the care she needs. “At a certain point, the university is going to stop turning my bills over to collections and they’re going to start turning me away,” she said.

When asked what message she would share with policymakers, her answer was clear. “We need universal health care.”