After 30 Years – Brother Gets Diagnosed with WHIM Syndrome

“I think I know what you have.” Those words spoken by Dr. Wendell Richmond at Hinsdale Hospital in Chicago in 2006 changed everything for my brother Daven. For the better part of his 30 years, Daven had been sick, sometimes for weeks at a time, in and out of hospitals for symptoms including extreme fatigue/low white blood cell count, lung infections, pneumonia, joint pain and recurring viral warts all over his body.  But, he never knew why.

He had seemingly undergone every possible test multiple times and was even told he had leukemia at one point and would need a bone marrow transplant.  The diagnosis was eventually reversed.

So when Dr. Richmond, an asthma and allergy specialist, told us that researchers at New York’s Mount Sinai Medical Center had identified a gene linked to a rare disorder called WHIM Syndrome, which appeared to explain Daven’s illness, we couldn’t wait to find out more.  He put us in touch with the lead researcher Dr. George Diaz, who explained that WHIM was a genetic disorder that caused immune deficiency, making people more susceptible to bacterial and viral infections, particularly human papillomavirus infections (HPV), which causes warts.

We were so relieved to finally know what was going on and to have hope that Daven had a chance to get better.  He now receives monthly injections of Intravenous Immunoglobulin, which helps reduce the number of infections.  Government researchers recently reported that a drug approved for patients undergoing bone marrow transplant may be effective in WHIM Syndrome, and more research needs to be done.

Daven is such a kind person, and while I know he’d be thrilled if a treatment became available to help him, the most important thing to him is to help his two daughters, who also appear to be affected by WHIM.  I think about him and my nieces every day and realize how lucky I am and wish I could do more to help.

I joined the board of the Genetic Disease Foundation (GDF) last year, which has the mission to prevent and treat genetic diseases by supporting research and education.  If you have been diagnosed or think you may have WHIM Syndrome, please contact us by posting to this blog.  We are looking to connect with other patients for mutual support and to help drive and facilitate research in the hopes that one day better diagnosis and treatment will help my family and others affected by WHIM.

Kelly Edwards
Global Genes Guest Blogger and Board Member, The Genetic Disease Foundation

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