All ultraviolet light is dangerous for Adeline Tonhaeuser, so she can’t play outside during the day. To attend school, the 7-year-old must sit completely covered up in class with a hat, gloves, long sleeves and pants. She spends recess inside.
The windows are tinted and the blinds are closed in her home in Hartford, Wisconsin. A special film to block UV light covers her parents’ car windows.
Adeline was born with a severe type of porphyria — a group of blood disorders that impact the skin or nervous system, and affect about 200,000 Americans, according to the National Institute of Diabetes and Digestive and Kidney Diseases.
The girl’s skin is hypersensitive to the sun. When exposed to UV light, it blisters painfully, leading to a risk of infection and scarring. Until a cure is found, she must hide from the sun for life.
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Adeline’s parents were shocked when she was diagnosed at 18 months old.
“It was a complete gut punch,” Kurt Tonhaeuser, 60, tells TODAY.com. “We were just a mess emotionally.”
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“It’s very isolating for her,” adds Megan Dunn, 46. “She makes it well known to us that she hates the disease. … She wants to be normal, and she wants to go outside and play like the other kids.”
Adeline got to do just that recently when she attended Sun Escape, a sun-proof camp for photosensitive children where all activities take place indoors or in the evening.
Mystery symptoms as baby
Adeline’s family had never heard of porphyria and had no reason to worry about her health at first. Dunn’s pregnancy was normal, and the baby seemed fine.
But when Tonhaeuser changed Adeline’s diaper, he noticed her urine had a reddish color. She lost her toenails and had what looked like an insect bite on the back of her leg that wouldn’t go away. Blisters appeared on her hands, arms and feet — any body part that wasn’t covered by clothing.
Her pediatrician diagnosed her with hand, foot and mouth disease, a viral infection; and impetigo, a bacterial skin infection.
But a pediatric dermatologist quickly suspected porphyria. Tests showed Adeline had an incredibly rare type called congenital erythropoietic porphyria, with only about 200 cases reported worldwide, according to the National Organization for Rare Disorders.
It’s a genetic disorder in which Adeline inherited a gene variant carried by both her parents, though they themselves don’t have the disease.
The mutation leads chemicals in her body, called porphyrins, to build up in her skin, bone marrow, teeth and bones, and when they interact with sunlight, painful blisters appear, the United Porphyrias Association notes.
Other symptoms include reddish urine, brownish-colored teeth, nail loss and excessive hair growth. Researchers believe the vampire myth may have originated with the disorder.
Playing outside is too risky
Adeline’s parents say they were lucky to receive a diagnosis early so they could start protecting her at a very young age, preventing the blister outbreaks and the infection and scarring that can follow.
They modified their house to be a fortress against UV light, worked with her school to make similar accommodations in her classroom, and they dress the second grader from head to toe in protective clothing. If the girl needs to go outside briefly during the day, she must also wear a full-face mask.
Indoors, she uses sunscreen on her face for a bit of extra protection.
“As long as Adeline stays covered and has zero exposure to any UV or outside light, then she will not have any reactions,” Dunn says.
“As far as playing during the day, no. We just don’t let her outside. it’s just too risky. It gets more difficult as she gets older because naturally, she sees her siblings outside and she wants to be out there,” Tonhaeuser adds.
“The isolation, sometimes I get to worry about that with her.”
At school, she must use an indoor recess room. Field trips are out of the question. So are beach vacations or daytime sports matches. It was a treat when her brother played his first nighttime soccer game and she was able to attend, Tonhaeuser says, breaking down with emotion.
Last summer, for the first time since Adeline was diagnosed as a toddler, she had a severe outbreak of blisters — likely because she snuck out a few times during the day to play with her siblings, her parents say.
It was painful and scared her, so she’s now much more careful and aware of the consequences, they note.
Night camp
In May, Adeline got to be a regular kid when she and her family attended the Sun Escape camp at Victory Junction in North Carolina. The event was specifically designed for children sensitive to sunlight, with activities like zip lining at night.
She loved horseback riding in an indoor arena lit up by lamps with incandescent bulbs, fishing at night and meeting other kids who must take the same precautions as she does.
“That was like a no worry weekend,” Dunn says. “She had such a blast.”
The annual camp is a joint project by the United Porphyrias Association and Shadow Jumpers, a nonprofit that helps people with photosensitive conditions founded by Craig Leppert, who has erythropoietic protoporphyria.
His condition means pain “similar to that of accidentally cutting yourself with a knife mixed with accidentally burning yourself on a stove” after about 15 minutes of sun exposure, he says. No medication eases the pain, and the affected area swells.
“I often tell people I would rather break a bone than get a bad reaction from the sun,” Leppert, 33, who works in the TV industry and lives in Los Angeles, tells TODAY.com.
He named his organization after the nickname his parents gave him when he would jump from shadow to shadow as a child to hide from the sun.
Leppert understands the isolation children like Adeline can feel, so the camp was a passion project. It’s free to attend for the kids and their families, and their travel costs are reimbursed.
“It was truly one of the most fulfilling experiences of my life,” Leppert says. “A fulfilling and joyful life is possible for families and children with these conditions; we just need to be open to thinking outside the box a bit.”
Vitamin D and blood draws
Doctors have told Adeline’s parents she should be fine as she grows older as long as she’s always protected from the sun.
She must take vitamin D supplements to make up for the lack of sunlight.
She also gets a blood draw every six months to monitor her health, including her liver and iron levels, which can be affected by the disease.
The girl may undergo a bone marrow transplant in the future, but it’s not recommended for now, Dunn says. In patients like Adeline, where the excess porphyrins are produced in the bone marrow, the healthy donor marrow might correct the problem.
“We just keep going. You can’t look back. We just keep moving forward,” her mom adds. “I think she’s rocking it. We really just have to continue to build her up. She’s very confident and I want her to stay that way.”
This story first appeared on TODAY.com. More from Today:
