No parent can bear to see a child in pain, but, it’s arguably worse when the cause or source of the pain remains a mystery.
This was the life for Andrea and Brad Campbell, of Massillon. Parents to three active boys, they became increasingly concerned about their youngest, Deagon, who, as a toddler, had attacks of extreme pain and blistering skin that made them consider a variety of food and environmental allergies.
The symptoms were unusual, to be sure.
Wearing sandals or flip flops might prompt screams of pain but switching to closed shoes brought relief.
Playing outside seemed to correlate with the onset of blisters and scabs. Could he have an allergy to grass?
“On sunny days, we noticed Deagon would run from one shadow or place of shade to another, whether it was a tree shadow or one coming off a building,” said Andrea. “He would run from shadow to shadow, hopping to get where he needed to be.”
Things only got worse for Deagon, now age 5, during the COVID-19 pandemic.
“Beginning in March, we were home more, so there was more time for the boys to play outside,” Andrea said.
During one of these attacks, Deagon’s pain is similar to having a first- or second-degree thermal burn. To ease the pain – that often lasted for days – Andrea would try Benadryl and oatmeal baths. Various types of soaps and medicines on the skin were tried with no improvement.
The family took a vacation to Hilton Head in July. But after 3 days at the beach, Deagon refused to go back outside.
“At one point, he was laying on the air conditioning unit in our condo in the middle of the night trying to cool down,” said Andrea. “His body was burning up.”
After the trip, Deagon had his first appointment with Akron Children’s Division of Pediatric Dermatology. Andrea summarized Deagon’s medical history for nurse practitioner Denise Costanzo, and shared photos of Deagon’s skin that she had been documenting over time. Denise recognized that Deagon’s clinical presentation was unique, and utilizing Akron Children’s telehealth technology, she shared clinical images with pediatric dermatologist, Dr. Nicholas Nguyen. Denise called Andrea that same day after talking to Dr. Nguyen. The one feature in Deagon’s medical history that stood apart for him was the “shadow jumping.” This led him to think Deagon should be tested for erythropoietic protoporphyria (EPP), and the test did come back positive.
Sometimes commonly said to be “an allergy to sunlight,” EPP is a rare inherited metabolic disorder characterized by reduced activity in ferrochelatase, an enzyme involved in the biosynthesis of hemoglobin, a key component of blood. The condition results from a variant in the FECH gene and is part of a wider group of similar disorders known as porphyria. For many children with EPP, the major symptoms involve the skin and follow exposure to sunlight and some types of artificial light.
“The skin symptoms can be substantial,” said Dr. Nguyen. “Imagine going outside on a sunny day. Within minutes your skin feels like it’s on fire. A few more minutes and your skin is red and swollen. Overtime, you start to see blisters and scarring.”
Some people with EPP may also have complications related to the blood, liver and gallbladder.
“What many people don’t realize is the porphyrias are not skin-limited problems,” Dr. Nguyen added. “Porphyrias, such as EPP, can affect multiple organ systems and have far-reaching effects on a developing child.”
The Campbells are closely following a few clinical trials that could offer therapies for Deagon, once he is an adult. In the meantime, they follow aggressive sun protection practices. Traditionally, mineral-based sunscreens containing zinc or titanium are recommended as they block a wide spectrum of UVA and UVB. However, in the case of EPP, even visible light outside of the UVA/UVB spectrum can trigger flare-ups. For this reason, sun protective clothing with a sun protection rating of SPF 50 is recommended. These are readily available through clothing retailers that cater to hikers, fishermen and other outdoor enthusiasts. Long sleeves and pants, gloves and a wide-brimmed hat are recommended whenever outdoors. If “everyday” clothes are to be worn, they should not be transparent when held up to a light and for this reason, darker colors are best.
The family was also referred to Akron Children’s Genetic Center, and learned through genetic testing that both Brad and Andrea harbor a variant in the FECH gene.
Only about 700 cases of EPP have been confirmed in the United States; 5,000 worldwide. That’s what prompted Andrea to share their story.
“April 10 to 17 is Porphyria Awareness Week, and we would like to do our part in spreading the education,” said Andrea. “There must be others who have gone undiagnosed for this condition.”
While it’s never good to learn your child has an extremely rare condition, Andrea said it’s better to have the knowledge than not, and it has led them to a variety of online support groups and through the American Porphyria Foundation.
Through these channels, Andrea met a mother whose father just happened to see an NBC Dateline story about EPP, which led him to connect it with his grandson’s symptoms.
“Without that chance viewing, that family and child may have gone without help for much longer,” Andrea said.
EPP requires a specific blood test for diagnosis that’s not part of routine newborn screening.
Moving on with life
The Campbell family learned of Deagon’s diagnosis just weeks before he was to start kindergarten. As overwhelming as it was at the time for the family, the school district – Perry Local Schools – was very compassionate and helpful from the start.
Deagon’s medical condition is documented in his learning plan. He sits far away from his classroom window, and once classmates were told about his condition and it was compared to other allergies, his “different” way of dressing no longer prompts questions.
The family is already planning another Hilton Head vacation this summer, but this year will have strategies, such as bringing a large beach tent that blocks 100 percent of the sunlight.
“Now we know more – we know he needs shade and we’re going to give it another try,” Andrea said. “We want Deagon to have as much of a normal childhood as our other two boys. Deagon also wants to play baseball this summer. He has dreams of playing in the NFL. Everything is going to be trial and error at this point until we see what works for him. But I’m not going to say ‘no.’”
Deagon has not had an acute pain attack since the diagnosis, and since he’s been wearing proper protective clothing.
“Deagon runs and plays with other kids and he’s a typical 5 year old,” said Andrea. “He doesn’t have to shadow jump anymore.”