On Thursday morning, Rilee Bjerke and her mom, Nicole, of Kasson, sat in an exam room at Mayo Clinic’s pediatrics unit. The 15-year-old was still a little drowsy from having to wake up early that day. However, the weekly doctor visits are routine for her.
The two received good news: Rilee’s blood count had improved, and the port in her chest could be removed. After the year the Bjerkes had been through, this small victory lit up Nicole’s face.
“It’s a happy appointment,” she said with a smile. “It’s a good day.”
After the doctor’s appointment, the mother and daughter planned to go home. One obstacle had been cleared, but Rilee still has a long road ahead of her.
Rilee suffers from dyskeratosis congenita. DC is an orphan disease and the drugs used for treating it are listed by the U.S. Food and Drug Administration with an “orphan status.”Orphan diseases are defined as rare disorders or illnesses affecting fewer than 200,000 people, or affecting more than 200,000 people but not enough for drug companies to recover the costs of developing and marketing a treatment, according to the FDA.
Rilee’s disease affects one in 1 million people. There’s no cure, and efforts to get expert help for DC is limited and costly. Very few people know much about the disorder to begin with.
“Most of the time, we just live day by day,” Nicole said. “We love each other and try our best.”
Sniffles at first
It started with a cold that wouldn’t go away. When Rilee was 2, she was diagnosed with severe aplastic anemia — bone marrow failure. In 2003, the young girl received a bone marrow transplant to treat the disorder, Nicole said.
However, Rilee didn’t have tear ducts or fingernails, which prompted Mayo Clinic to send photographs to the National Institutes of Health. It was then, in 2008, that the Bjerkes learned that Rilee had DC.
The disease is a progressive bone marrow failure syndrome. Among the symptoms are missing fingernails or fingerprints. Rilee’s bone marrow also does not produce enough blood cells. Recently, she had pulmonary fibrosis, which builds up scar tissue in her lungs. The teen also couldn’t start puberty and weighs just 90 pounds.
“It’s hard,” Nicole said. “A lot of the time she doesn’t feel well. She’s very tired, she’s angry and she’s sad. Nobody had even heard of the disease.”
Most of the time, doctors appointments are conversations dealing with experimental procedures and test drugs. Since DC is still relatively unheard of by medical experts, treatments are often trial and error.
“With DC we are trying different things, hoping something will work,” Nicole said. “I don’t think we realized how rare it was until the serious stuff started happening.”
Rilee had blood in her stool and had to have blood transfusions. For the last six months, she’s had to stay home and miss school because of treatments and the progression of the disease. She had to take three shots a day of Octreotide to her stomach and had to have a port inserted into her chest for drawing blood to count healthy cells.
The focus was on trying to stop the bleeding. This resulted in having to swallow camera pills to scope out where in her body there was bleeding.
“She was having so many blood draws and transfusions that her arms looked like a war zone,” Nicole said. “We finally made the decision to put a port in.”
Several medications had little to no effect. Now, Rilee’s medication has been reduced to a shot to the arm once a month, and she’s been going to the clinic once a week.
While more well-known diseases might have a range of available treatments and drugs, the Bjerkes have few options.
“Sometimes, I wish she would have gotten cancer; at least there would’ve been a protocol we could’ve followed,” Nicole said. “There is absolutely nothing I can do to help my daughter, and as a mother, there is a lot of guilt.”