A small girl suffers from a disease so rare that she is the only person in the world to have it

Anita Durairaj

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There is only one person in the world who is recorded to be suffering from a specific mutation that causes Mandibuloacral Dysplasia.

A young British girl, Isla Kilpatrick-Screaton who is about 5 years old (as of 2022) suffers from this extremely rare condition.

According to the Rare Disease database, Mandibuloacral dysplasia is an extremely rare disorder that results in the underdevelopment of bones, bone loss, skin degeneration, and selective loss of body fat. The result of this is a rare form of progeria or Benjamin Button disease. Thus, Isla is prematurely aging.

The Cleveland Clinic reports that there are 350 to 400 children living with progeria at any time in the world. However, in Isla's case, she has a specific genetic mutation that is unlike anything seen before.

Doctors were apparently baffled because they had never seen Isla's mutation before. Her case is being studied by specialists so that it could serve as a case study for children in the future.

According to Isla's parents, they don't know much about her future because she is the first child in the world to suffer from this. They have never come across the condition before and everything is a "maybe" in their lives.

Currently, Isla's parents have an Instagram page for their daughter where they report on her developments. Isla continues to visit the hospital whenever she feels ill. She requires walking aids and a wheelchair. She also suffers from bouts of pain. However, her parents have attempted to give her as normal a life as possible.

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Trained with a Ph.D. in Chemistry from the University of Cincinnati, I write unique and interesting articles focused on science, history, and current events.

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