Medical mysteries can drive patients and families crazy. Not understanding unexplained symptoms can be torturing.
Four-year old Savannah Fulkerson was living in sunny California when her mother Andrea began to notice something strange. Whenever the family would go to the pool, little Savannah would have agonizing pain. Savannah explains the sensation as lava being poured over her body. Ouch!
The reaction would cause Savannah’s skin to itch, turn red, blister and scar. Ice and cold baths did not help. Visits to the doctor would lead to more frustrations as the mom would be told that her daughter had eczema, but Andrea knew that something more was affecting her daughter.
The pain would continue for another five years before questions would be answered. Dr. Minnelly Luu of the Dermatology department of Children’s Hospital in Los Angeles had theory about the cause of Savannah’s pain. EPP or Erythropoietic Protoporphyria. It arises from an enzyme deficiency, leading to abnormally high levels ofprotoporphyrin in the skin.
Such a diagnosis means absolute no sunlight; no fun time with friends at the beach or the pool in the daytime. As if the diagnosis wasn’t bad enough, the now 11-year old has been picked on because of her protective wear and scarred hands.
Savannah is not alone. Children in a New York City camp begin their fun activities at night. The children have a similar diagnosis called Xeroderma Pigmentosum (XP). Exposure to the sun results in third-degree burns and can lead to cancer.
These rare medical conditions appear to have been around for a long time. Some historians say that Vlad III “the real dracula” had EPP.
Presently, there is hope for Savannah and the kids suffering just like her. Afamelanotide, a drug which can be only be found in Europe, shows huge promise.
It is FDA approval but doctors say it can increase melanin in the skin. That melanin accompanied by a three-day tan can create a protective layer for the skin.
Savannah hopes for a cure so she and other children would not have to live with this. We hope so too!