The latest case of the extremely rare Gorham-Stout disease was found in Edinburgh, Scotland earlier this year. A woman was diagnosed with the “vanishing bone” disease as the bones in her shoulders were gradually disappearing.
The case was published in the BMJ Case Reports medical journal, and there have only been roughly 300 cases in the history of medical literature according to RareDiseases.Org.
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The scary part about the disease is doctors have no idea what causes it, as the National Organization for Rare Disorders (NORG) has been unable to identify environmental or genetic triggers.
People diagnosed with the condition will see unusual growth in blood and lymphatic vessels, causing them to infiltrate bones and cause them to break down.
The latest case saw a 44-year-old woman going to the doctor with consistent and growing pai in her left shoulder. Her x-rays showed she had a lesion on her humerus bone (upper arm), leading doctors to believe she had some type of cancer at first. That was later disproved, and after 18 months x-rays found her humerus and ulnar bone (forearm) appeared to be disappearing as overgrown blood vessels were replacing her bone tissue.
According to the National Institute of Health’s Genetic and Rare Diseases Information Center, there is no cure for the disease though there are certain therapies to help patients with their specific symptoms.
“Ultimately, this is a challenging disease where evidence-based management remains lacking,” the researchers of the new report wrote, according to Live Science.
In other rare disease news, 17-year-old Jonathan Pitre passed away this week in Minnesota. Known as a “butterfly child” Pitre was born with epidermolysis bullosa, a skin disorder that makes it as fraglie as butterfly wings.
Pitre had spent most of his young life spreading awareness about his condition, and as a result, his mother, Tina Boileau, received a wealth of support and condolences from people who had been inspired by her son.
“Thank you for your outpouring of love and support for Jonathan and myself in these sad times,” Boileau wrote in a Facebook post both in English and in French. “My family and I are now requesting your understanding in respecting our privacy as we reunite as a family to support each other in the challenging days ahead as we grieve the loss of our son, brother, grandson and above all a fearless warrior. Thank you for your understanding and continued support.”
