Rare Diseases

Rare disease causes 11-year-old to be allergic to the sun

An 11-year-old girl in Los Angeles whom doctors misdiagnosed with eczema for years has resorted to a life in darkness after learning she has a rare disease that makes her allergic to the sun, ABC 7 reported. 

Savannah Fulkerson first started getting mysterious blisters and sores on her hands when she was 4. Her mother, Andrea Fulkerson, said doctors pointed to eczema, an inflammatory skin condition that causes itchy blisters, but she was always skeptical as her daughter’s skin would become irritated solely after sun exposure.

When Savannah turned 9, doctors at Children’s Hospital Los Angeles offered a different diagnosis: Erythropoietic Protoporphyria, or EPP, an inherited condition that occurs in two to five in 1 million people, according to the National Institutes of Health (NIH). EPP is marked by cutaneous photosensitivity, typically appearing in infancy or childhood, that results in tingling, burning, pain, and itching within minutes of sun/light exposure and may be accompanied by swelling and redness. The rare disease is caused by defects in hemoglobin production that prompt the production of porphyrins, toxic compounds that cause sun sensitivity.

Andrea Fulkerson told the news station that the condition caused her daughter to feel as if she was being burned alive. Savannah’s symptoms can surface after only a few minutes in the sun.

"It's just pain. It feels like lava is being poured on you. It really hurts," Savannah Fulkerson told abc7news.com.

While scientists work to find a cure for the disease, Savannah wears SPF clothing and avoids the sun as much as she can. 

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