7-year-old girl with rare disease forced to hide from sun, cover every inch of skin: ‘Complete gut punch’

Adeline Tonhaeuser can’t play outside during the day with the other kids.

When she goes to school, the 7-year-old from Hartford, Wis., has to completely cover her skin head to toe to avoid the searing pain she suffers from the sun. 

Little Adeline was born with a severe type of porphyria — a rare disorder that affects the skin and nervous system as a buildup of natural chemicals called porphyrins. When exposed to UV light, her skin breaks out in painful blisters within minutes, and she risks infections and scarring.

Some 200,000 Americans live with the disease, according to the National Institute of Diabetes and Digestive and Kidney Diseases. 

Adeline received the life-changing diagnosis when she was just 18 months old.

“It was a complete gut punch. We were just a mess emotionally,” her father, Kurt Tonhaeuser, 60, told Today.com. 

Adeline’s mother, Megan Dunn, 46, said the disease has been “isolating” for her daughter, who sits inside by herself during recess at school.

“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,” Dunn said.

Adeline’s mother had a normal pregnancy and her daughter’s birth went fine. However, the baby began displaying alarming symptoms.

Her urine was red, she lost her toenails and had what looked like a bug bite on the back of her leg that wouldn’t heal. Blisters began appearing on her hands, arms feet — areas of her body that weren’t covered by clothing.

A doctor initially diagnosed with hand foot and mouth disease and impetigo, a skin infection, Adeline’s parents told Today. But a pediatric dermatologist suspected porphyria.

Tests revealed that Adeline had an incredibly rare type called congenital erythropoietic porphyria — which has only about 200 confirmed cases worldwide, according to the National Organization for Rare Disorders. 

Both of her parents carry a gene variant that causes the disease, although they themselves do not have it.

Once they learned what they were up against, the concerned parents immediately began making changes to their home to ensure no sunlight could get in. They worked with their local school district to make sure Adeline could safely attend classes.

Even if she goes outside for just a few minutes during the day, her face must be completely covered — and she even wears sunscreen indoors for 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 told Today.

“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.

Last summer Adeline had a serious blister breakout for the first time since her diagnosis. Her parents believe she likely snuck out a few times to play with her brothers and sisters.

She was in a lot of pain — but now her parents say she’s more careful since she’s aware of the consequences.

Adeline will be fine as she grows up as long as she avoid UV light, doctors have told her parents. Twice a year she has blood drawn and tested to monitor her health, especially her liver and iron levels which can be impacted by her disease, Today reported.

She may need a bone marrow transplant someday, but all is well for now.

“We just keep going. You can’t look back. We just keep moving forward,” Dunn said.

“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.”