Adeline Tonhauser can't play outside during the day with other children.
A 7-year-old girl from Hartford, Wisconsin, must cover herself completely from head to toe when she goes to school to avoid the burning pain of the sun.
Little Adeline was born with severe porphyria, a rare condition that affects the skin and nervous system due to the buildup of natural chemicals called porphyrins, causing painful blisters to form on her skin within minutes of exposure to ultraviolet light, putting her at risk of infection and scarring.
According to the National Institute of Diabetes and Digestive and Kidney Diseases, approximately 200,000 Americans are living with the disease.
Adeline received a life-changing diagnosis when she was just 18 months old.
“It was a total shock. We were emotionally devastated,” said her father, Kurt Tonhauser, 60. He told Today.com.
Adeline's mother, Megan Dunn, 46, said the illness had been “isolating” for her daughter, who has been sitting alone at home during school holidays.
“She often tells us that she hates this disease. … She wants to get back to a normal life and go outside and play like other kids,” Dan said.
Adeline's mother's pregnancy was normal and her daughter's birth went well, but her baby began showing warning symptoms.
Her urine was red, her toenails were falling off, she had insect bite-like marks on the bottom of her legs that wouldn't heal, and blisters began to form on her unclothed hands, arms, and feet.
Adeline's parents told Today that doctors initially diagnosed her with hand and foot nevi and a skin infection called impetigo, but a pediatric dermatologist suspected porphyria.
Tests revealed that Adeline had a very rare type of Congenital erythroid porphyrias According to the National Organization for Rare Disorders, there are only about 200 confirmed cases of the disease worldwide.
Both of her parents carry the genetic mutation that causes the disease, but they themselves do not have the disease.
Upon learning of the problem they faced, her concerned parents quickly modified their home to block out sunlight. They also worked with the local school district to ensure Adeline could attend class safely.
She has to fully cover her face even when going outside for just a few minutes during the day, and she also wears sunscreen indoors for extra protection.
“As long as Adeline is covered and not exposed to any UV light or outside light at all, it won't cause any reaction,” Dunn told Today.
“As far as playing during the day, no. We just try not to let them go outside because it's too dangerous. It gets harder as they get older because when they see their siblings outside in nature, they want to go outside,” Tonhauser added.
Last summer, Adeline suffered severe blisters for the first time since her diagnosis, and her parents believe she may have snuck out a few times to play with her siblings.
She was in a lot of pain, but now she knows what the consequences will be and is being more careful, her parents say.
Doctors have told Adeline's parents that she will be fine to grow as long as she stays out of the sun, and according to Today, she has blood drawn and tested twice a year to monitor her health, particularly her liver and iron levels, which can be affected by the disease.
She may need a bone marrow transplant one day, but for now she's OK.
“We just keep going. There's no looking back. We just keep moving forward,” Dunn said.
“I think she's doing great and we just need to keep developing her. She's very confident and I hope she keeps that confidence.”
