One in a Million Diagnosis for one Girl with Job’s Syndrome

 

Lucy is now ten years old and stable, living her life as close to a normal ten-year old as possible. However, she was born with a super rare disease that took years of questionable infections, doctors’ visits, and testing to diagnosis.

Lucy was born after a typical pregnancy. She had a newborn rash that covered part of her body, which eventually scabbed and fell off. Lucy’s parent’s noticed vaguely that she seemed to get a lot of different infections. First, it was a case of a toenail infection when she was nine months old. It became filled with pus, though it did not cause Lucy any pain. Her parents had a pediatrician drain the toe and everything was fine.

At 1 years old, Lucy got two burn-like infections on her fingers. Both her doctors and her parents assumed it might be caused by her sucking her fingers and she was given antibiotics.

In between all this, Lucy was habitually getting patches and rashes on her face and torso. The rashes often looked like a heat rash and they left her doctors confused about their origin.

Lucy developed abscesses that required surgical draining and her infections started to heal more slowly and require more antibiotics.

At two years old, Lucy’s parents were recommended to visit an immunologist at John Hopkins hospital, but before her appointment she was hospitalized for a fungal infection called thrush, which caused her so much pain that she could not even swallow.

Thrush is extremely rare in a 2 year old. It is more common in patients with HIV and a compromised immune system. This led doctors to assume she might have an immune system that does not fully function.

The chief of pediatric infectious diseases at the time at the Georgetown hospital was Charlotte Barbey-Morel who luckily had treated patients with a very rare diagnosis that she suspected Lucy had.

She called a colleague to discuss the possibility and shortly it was confirmed with genetic testing that Lucy had a one in a million rare disease called Job’s syndrome or Hyper IgE syndrome.

Job’s syndrome is an immune deficiency that is caused by a STAT3 gene mutation. There is no cure for the disease.

The good part about Lucy’s diagnosis is that she was diagnosed early. Many people go decades without a diagnosis and are sick and unwell virtually their entire lives.

More testing determined that Lucy’s case was caused by a spontaneous mutation and in 2015 she became one of the first to undergo a bone marrow transplant. While not a cure, it could lower the severity of the chronic lung infections she had started to suffer from.

Lucy had a successful surgery, and although she suffered a few setbacks, Lucy is doing better than she has before. Her lungs are healthy and her parents are hopeful that the surgery will allow Lucy to live a healthier and long life. She is home-schooled and her parents are proud of their spunky, strong-willed daughter.

Read the original article here. 


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