Girl Misdiagnosed with Bug Has Life-Threatening Blood Disorder Found
Girl Misdiagnosed with Bug Has Life-Threatening Blood Disorder

Emilia MacKay, from Redditch, was diagnosed with aplastic anaemia after doctors initially misdiagnosed her itchy rash as a sickness bug. The life-threatening blood disorder prevents bone marrow from producing enough blood cells.

Misdiagnosis and Discovery

In January 2023, when Emilia was five, her parents James and Stephanie grew concerned about her worsening symptoms, including fatigue and unexplained bruises. James, a car salesman in Birmingham, and Stephanie, a secondary school teacher in Worcestershire, took her back to the doctor. Blood tests revealed low platelet counts, indicating poor blood clotting.

Stephanie recalled being told in the family room at Worcestershire Hospital that Emilia's bone marrow was not working. By April, Emilia was transferred to Birmingham Children's Hospital for a bone marrow aspiration, which confirmed aplastic anaemia.

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Search for a Donor

Doctors informed the family that a stem cell transplant was the only cure. Tests on family members, including Emilia's older sister Ellie (now 13), found no close match. However, by the end of July 2023, two full matches were identified in Germany. One donor was Jan Koch, 33, an electrical technician who had registered with the charity DKMS a decade earlier.

Jan received a letter saying he matched a girl in England needing a stem cell transplant. He described it as an honor to be the chosen one. He underwent the procedure, and Emilia received the transplant on September 29, 2023, making a full recovery.

Meeting the Donor

After two years, DKMS lifted strict anonymity rules, allowing Emilia's family and Jan to connect. They met for the first time in London this week. Emilia said she was so grateful to meet the kind-hearted stranger who saved her life. She told PA Real Life: “I felt really excited to meet him. It means so much to me because if it wasn’t for him giving me just a tiny bit of bone marrow, I wouldn’t be here right now.” Jan added: “I’m just happy I could help because I think the most important part is to save lives.”

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