The last day of February each year is Rare Disease Day, a time to raise awareness about the impact these illnesses make on patients' lives. But for the Collins family, every day is Rare Disease Day.
Lori and her 10-year-old daughter Katelyn both have a rare genetic disease called chronic mucocutaneous candidiasis. Their bodies are unable to fight many infections that a regular immune system can normally fend off, requiring them to take daily medications.
Lori has been able to manage her disease well, and Katelyn could too – until she reached the age of 7. That’s when she developed autoimmune hepatitis and autoimmune hemolytic anemia, two complications that damaged her liver and attacked her own red blood cells. She became dependent on steroid medications, which led to weight gain, mood swings and fatigue. That year, Katelyn had to miss almost seven weeks of school.
Katelyn’s doctors advised that a liver transplant might be necessary in the future. To preempt such a complex procedure, Lori considered a blood and marrow transplant for Katelyn – which held risks of its own.
“I watched my younger sister die at age 16 of this same disease,” says Lori. “I couldn’t stand the thought of doing nothing.” Her father also died from this disease at age 46.
Fortunately, Katelyn’s treatment team at Levine Children’s Hospital identified a different way to help Katelyn – one that could avoid a transplant altogether. Last May, they decided to put her on a new targeted gene therapy called ruxolitinib that basically tells her immune system to stop attacking her body.
Katelyn is one of only a few documented patients in the world to take this medication for this disease. And the medicine has transformed Katelyn’s life. “She is doing exceedingly well, and her outlook is very bright,” says Niraj Patel, MS, MD, pediatric immunology and infectious disease specialist at LCH.
Katelyn no longer has to take daily steroids. “Now Katelyn is like the girl she was before,” says Lori. Weeks are now filled with gymnastics and Girl Scouts – not constant trips to the doctors.
New hope for local patients
Outside of her family, Lori has met only one other person with her same condition. Many people with rare diseases are in the same boat.
In the US, a rare disease is defined as one that affects fewer than 200,000 people at any given time. Ten years ago, Rare Disease Day was begun to support this population and encourage researchers and decision-makers to help find cures.
Over this same decade, LCH expanded its pediatric infectious disease division to include immunology, increasing its ability to serve children with rare diseases. Today, the division offers the only pediatric immunodeficiency center in the greater Charlotte area and participates in cutting-edge multicenter clinical trials alongside national leaders such as Boston Children’s Hospital, Children’s Hospital of Philadelphia and Johns Hopkins.
“LCH has brought some brilliant minds to this area,” Lori says. “I know I’ve got the best team for Katelyn right here in Charlotte.”
As someone who has battled her disease for her entire life, Lori knows patients with rare diseases must never give up.
“People with rare diseases matter, whatever they’re going through,” says Lori. “They need to have hope and they need to be their own advocate and stand up for what they want to achieve with their doctors.”
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