Ever Met a Girl who could DIE every THREE Weeks

Eight-year-old Sophie Perren’s immune system stops working every few weeks — leaving her at risk of deadly infections

To the casual observer, there was nothing unusual about Sophie Perren’s birthday party last weekend. Surrounded by her relations and 12 of her friends, the eight-year-old celebrated the occasion at a local family pub with face painting, dancing and party fare. But for her mother Nancy, 42, the pleasure of the party was marred by the knowledge that letting Sophie mix with other children could put her life at risk.

Sophie suffers from the rare immune system disorder, cyclical neutropenia, which means that not only is she more prone to infections generally, but every two to three weeks she is at serious risk of catching an infection she will be unable to fight. She has already suffered two bouts of pneumonia, four of septicaemia, numerous throat, ear and chest infections as well as a respiratory virus similar to Sars. She has been hospitalised more than 100 times, resuscitated at least 30 times and been given countless courses of antibiotics.

When Sophie was born, she was an easy baby, says her mother. “For a few short weeks we were blissfully happy. Then one day, when she was about eight weeks old, she became slightly constipated. The next morning I woke up to hear her making grunting noises.” Nancy adds: “When I picked her up from her cot next to me, she was listless and I could see from her expression she was very uncomfortable. I made an appointment with the GP for that afternoon but by 11am she was screaming in pain and felt very hot. Then her skin became a mottled texture with purple ridges. That was enough for me.” Nancy went straight to the surgery and begged to see her GP immediately. The receptionist took one look at Sophie and ran to get the doctor. Two months later, a consultant explained to Nancy that she thought Sophie had cyclical neutropenia. ‘When I asked her whether it was fatal she looked away and said “possibly”. I felt like passing out,’ recalls Nancy.

Cyclical neutropenia is one of the rarest forms of neutropenia. Here the bone marrow stops producing neutrophils approximately every 21 days and during that time the child is unable to fight any infection. It is incredibly difficult to diagnose because most of the time the child’s neurtrophil reading would be normal. Neutropenic children are always at risk of infection, some more than others. But Sophie’s case is quite severe and what would be a safe level of risk for other children could kill her. ‘If she had an open wound or even a scratch, and she was touched by someone with bacteria on their hands she could be overwhelmed by that bacteria within hours,’ says Nancy.

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