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Meghan, 13, NIH Patient.

Meghan has a rare and life-threatening genetic disease, Dock8 deficiency. The disease, itself, was only recently discovered in 2009. Like many genetic diseases, the discovery and possible treatments were made possible by the mapping of the human genome led by Dr. Francis Collins, now Director of the NIH.

All her life, Meghan has had hundreds of food allergies, is susceptible to respiratory infections, and has battled painful, severe, head-to-toe eczema. When she was 9, her parents, Connie and Bill, were advised by a fellow nurse to have Meghan undergo extensive genetic testing.

A specialist notified them six months later saying, “I don’t even know what this disease is.” They then sought the NIH’s expertise. Children with this disease usually get multiple various skin infections, many times viral, such as herpes or warts all over their skin. Thankfully Meghan doesn’t have that. But patients’ immune systems break down and they are at risk for many other diseases, cancers, and organ failures.

Consequently, this threatens to shorten their lives to only 20 to 30 years or less. Meghan hasn’t been able to go to school because she has had to nearly live in a bubble.

But, there is good news. Dock8 deficiency is curable with a bone marrow transplant. Meghan’s family are grateful to be at the NIH, with the world’s best doctors, who over a few years, have perfected her experimental protocol.

Meghan with her sister, Brooke, her bone marrow donor, and doggie pal

“Meghan is part of making it even better. We have watched and waited nervously, to trust that it was the best time for Meghan and kept her as healthy as we could in order to be ready,” Bill explained. Having a sick child has been intensely stressful for Meghan’s family. Fortunately, her older sister, Brooke, was her donor for the bone marrow transplant in June.

“Long before patients come to the NIH, families are faced with sky-high medical costs, co-pays, brand-name medicines, and travel costs. And, of course, as in Meghan’s case, specialized foods. I’ll be honest with you. We live paycheck to paycheck,” said Bill. Both Bill and Connie are nurses; Connie is on family leave to be with Meghan and frequently joined by Bill from New York.

Meghan, Connie & Bill at Friends’ Night Out

“You want to put on your game face for your child every day, but it’s hard when you’re in a financial free fall,” adds Connie. “Friends of Patients at the NIH helped us with our mounting bills by paying our mortgage. We thank donors that we didn’t lose our house, and more importantly, that Meghan can complete treatment here.”

Meghan’s older brother, Liam, also has this disease. He has no symptoms now, but it is only a matter of time, Bill explains. “We will be doing this all over again in the near future. We are grateful to Meghan’s outstanding doctors and Friends at NIH for giving us hope for our children.”

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