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YOUR HEALTH | Doctors cure child of rare disease

“He was perfectly healthy. Never been sick or anything until he was about six months old. He didn't want to drink his bottles. He didn't want to eat purees."

NEW ORLEANS — Genetic disorders are caused by an abnormality in the child’s DNA. Ten out of every 1,000 babies born will be diagnosed with one — in fact, 17% of couples are at a high risk of transmitting a genetic disorder to their child. 

A team of doctors saved one young child, curing him of his near-fatal genetic disease.

Nap time ended much too soon for little Miller Gamberi. Mom, Garyn doesn’t mind, though, she’s just happy to have her little boy home.

“He was perfectly healthy. Never been sick or anything until he was about six months old. He didn't want to drink his bottles. He didn't want to eat purees,” Garyn said.

And then, his oxygen levels dropped. Miller was diagnosed with pneumonia. Follow-up tests revealed Miller had a fungal lung infection that attacks people with weakened immune systems. Doctors at Children’s Hospital New Orleans needed to find out why his immune system was weak. DNA sequencing and immunological tests revealed Miller had a rare genetic disorder called MHC Class II Deficiency.

LSU Health Pediatric Hematologist/Oncologist at Children’s Hospital, Zach LeBlanc, MD said, “He has a specific genetic defect that doesn't allow his T-cells to function appropriately.”

This revelation meant Miller was more prone to infections, so he needed a bone marrow transplant.

“He needed to receive, actually, chemotherapy prior to, so that all of those other cells could be killed and the garden could be, quote on quote, ‘emptied’ so that there was room for the new stem cells to come and grow,” Dr. LeBlanc explained.

They found a bone marrow match, but Miller caught COVID while in the hospital and the transplant didn’t take. Miraculously, the same donor agreed to donate bone marrow a second time.

Dr. LeBlanc added, “He, actually, responded really well to the second infusion of stem cells and has had great counts ever since.”

Now, Miller could soon be completely cured. Miller had an unrelated bone marrow donor twice. Dr. LeBlanc said a sibling is the best possible match, but that wasn’t an option for Miller. If you’re interested in donating, you can find more information at bethematch.org.

Contributors to this news report include: Marsha Lewis, Producer; Matt Goldschmidt, Videographer; Roque Correa, Editor.

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