XLPDR: The Disorder That Only 9 People Worldwide Have

By Marvie Basilan, Christian Post Contributor Monday, April 04, 2016

As the medicine realm continues to find the cure for various diseases that could put millions of lives at stake, 9 people are suffering from a rare disease called X-linked reticulate pigmentary disorder with systematic manifestations that makes them highly sensitive to sunlight.

Commonly called XLPDR, the disorder keeps patients from staying under the sun for a long time and is associated with various infections as well as the risk of overheating that could be risky to one's life.

Rome-based photographer Luca Catalano Gonzaga had been studying the disease for some years and along the way, he came across the story of Alex Gentile, an 8-year-old boy living in Valbrona, Italy, who is one of the nine people across the globe diagnosed with XLPDR.

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Alex's story is featured in Luca's project titled "Hopeful, 'One of a Kind'" and he obtained permission from the boy's mother, Patrizia, to tell his story for the sake of spreading awareness about the condition.

According to CNN, Patrizia said, "When he [Alex] overheats, he risks his life. A moment of negligence, a delay, and Alex dies."

Patrizia knew a few days after Alex was born that he was a sick boy since he was unusually sensitive to light and cried a lot. He had abdominal pains and was unable to sweat, unlike other children. At barely two months, Alex developed a respiratory infection and the disorder's rarity became a stumbling block to earlier diagnosis.

Finally, at age 3, Alex was diagnosed and Patrizia was told that her son has an ulcerated cornea. Ulcer of the cornea often results to reduced vision and eye discharges. Alex is also suffered from photophobia, which means light has a blinding effect on him. The two eye problems are causing him to lose eyesight even at a young age.

"There is no therapy -- only eye drops, body creams, antibiotic for the infections and monitoring of internal and external temperature," Patrizia explained, adding that she has to monitor Alex's food closely as the temperature may cause her son to overheat.

Luca shared his fondness of Alex, whose images of black-and-white serve as an inspiration not only for the famous photographer but also to the many people who are learning about the disorder. He also said he is awed by Patrizia's determination to stay strong for her son. "Alex's family, in particular his mother Patrizia, taught me what 'never give up' really means," he said.