Super Gav's Story

Gavin at age 4, before transplant.

Ali and Gavin, post-transplant, Christmas 2014.

My son Gavin Quimby loves superheroes, particularly Superman, to whom he shares more than a passing resemblance with his dark hair, piercing eyes, and fair complexion. It should not surprise anyone Gavin's nickname is Super Gav.

Gavin was the kind of child who was always in motion, then my husband Nick and I noticed he was having trouble with his balance and seemed like he was afraid of his own body. It would take five months for doctors at Gundersen Lutheran in La Crosse Wisconsin to confirm the devastating diagnosis of juvenile-onset metachromatic leukodystrophy. Our doctors referred Gavin to specialists at the University of Minnesota.

Though he was showing symptoms of leukodystrophy, doctors at the University of Minnesota told us a bone marrow transplant might slow down the progress of the disease. The bone marrow transplant had a 1 in 4 chance of getting Gavin more time, but the doctors warned us the treatment would be hard, and that there would be risks. We hoped Gavin would be one of the lucky kids the treatment helped.

Even though I am a surgical technologist and Army veteran and my husband Nick is a police officer and Iraq War veteran, my medical training and our military experience could not prepare us for what Gavin would endure over the next year. Since Gavin's diagnosis in May of 2014, my son spent 3 months out of hospitals.

The bone marrow transplant itself was grueling, but the months away from home were the toughest part of all. I stayed with Gavin at The Ronald McDonald House in Minneapolis and Nick would live at home in Winona, three hours away, with our older daughter Ali and take time off from work so that the family could be together on the weekends. The time away from home was hard on everyone, particularly Ali. When Ali made the three hour trip to see Gavin, no matter how our son was feeling, Gavin would light up when his sister was around.

Nick and I were so busy trying to keep things going, we did not have a lot of time to dwell on the toll it was all taking. But Ali did, she missed me, her brother, and I think she missed the way our family used to be most of all.

The bone marrow transplant would be successful, but the risky side-effects the doctors had warned us about kept Gavin in the hospital for six months. The doctors marveled at how well Gavin had gotten through the transplant. But then Gavin developed a rare condition that had compromised his pulmonary system, and for months tried everything they could to preserve his lungs. As Gavin would stabilize and get better, the condition would progress again and we would return to the hospital.

After a year of active treatment, last week we had the toughest conversation of our lives with our son's doctors. And so, we made the heart-wrenching decision to bring Gavin home and have him live the rest of his life in comfort and surrounded by love from his family and friends. We got to celebrate my birthday this weekend when Make A Wish hosted a wonderful Minion- themed party for Gavin.

I have marveled at my son’s courage through his transplant process, his graft vs host disease and numerous other health issues but it was time to go home to laugh and smile. I could see Gavin was so relieved to be home even if Nick and I feared for the future.

We wanted to save our son, and now we want to help the children who will come after Gavin.

We have testified to state officials about the importance of newborn screening for leukodystrophy and raised funds for research. We are so excited about how the pharmaceutical company Glaxo Smith Kline is seeking FDA approval for a gene therapy to treat this horrible disease. We want to help the doctors save these beautiful children. We are so happy for other families whose children with MLD have benefitted from Dr. Alessandra Biffi's research. We are grateful for the miracle of children with Gavin's disease who have gotten the chance to go to kindergarten this year the way Gavin was supposed to. How we wanted Gavin to be one of the lucky ones.

Gavin's legacy will be doing more than curing leukodystrophy, we are going to be working for a world where children with leukodystrophy will never even know they are sick. Newborn screening will identify children with the disease at birth and gene therapy will replace the faulty gene and simply give children back their childhoods.

That's the future we want for these kids, and that's why we wanted you to hear this story.

GAVIN DIED SURROUNDED BY HIS FAMILY AT HIS HOME IN WINONA, MINNESOTA AT THE AGE OF FIVE ON TUESDAY, SEPTEMBER 8, 2015.