Although there are less than six hundred cases of it across the globe, those suffering from it eventually die.
The 14-year-old girl began showing symptoms at the age of eight, after several examinations tests showed she was suffering from the genetic mutation. Despite the depressing prognosis doctors and Ni’s family hope to delay the symptoms with medication, in a bid to prolong her life and slow down the effect of the rare disease.
Dr Zhang Keqin, who is leading Ni’s treatment, said: “At present her condition is not very serious and we have prescribed medicine for her. We will see how that goes over the next 6 months. Patients usually die in their 40s when they can no longer breathe because of the pressure on their lungs.”
The disease causes bone to form in muscles, tendons, ligaments and other connective tissues. Over time, this extra bone restricts movement, forming a second skeleton that imprisons the body in bone. It results in a gruesome death when the cartilage holding the ribs together also solidifies, making it impossible to breathe and eventually the patient suffocates or suffers massive cardiac arrest.
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