For Mediaplanet's "Rare Disease" cover story, I had a conversation with a woman who shared her experience with a rare genetic disorder that profoundly shifted her outlook on parenthood. The issue was distributed with USA Today.

Six-year-old Sam Buck is one of few. He is living with vanishing white matter disease, a rare disease characterized by continuously-degraded brain matter and no cure.

In many ways, 6-year-old Sam Buck is just like any child his age: happy, active, and curious. But there is one thing about Sam that sets him apart from anyone you've ever met.

Sam's parents, Allyson and Nick, noticed their son wasn't feeling well four years ago.

"We were referred to a pediatrician who ran a few tests," Allyson recalls. "He did an X-ray and then a CT scan, and as soon as he saw the CT scan, he knew there was something very wrong because parts of the white matter in Sam's brain were missing."

It was then that Sam was diagnosed with vanishing white matter disease, also known as Childhood Ataxia with Central Nervous System Hypomyelination. This devastating condition destroys myelin, the brain's white matter. Symptoms generally appear in young children who otherwise seem to be developing normally, and the disease is typically fatal by age 10.

“If anything comes our way, we say ‘yes.’ We used to be very cautious. Now, we prioritize living in the moment.”

"In all of London, Sam was only the second case any pediatric neurologist had ever seen," his mother shares. As of publication, only 250 people in the world have been diagnosed.

"The pediatrician told us that there's no treatment, no cure ... nothing," Allyson recalls. "He told me, 'We don't know how long your son has left, so I advise you to make the most of it.'"

The motor difficulties of vanishing white matter disease are progressive. Allyson and Nick have kept careful track since their son's diagnosis, as Sam's speech has slowed down, and his ability to walk has weakened. And while they exercise increased caution, the family is on a mission to make the years Sam has left count.

"Sam's disposition is incredible," Allyson explains. "He never complains or whines. He constantly has a smile on his face. He's incredibly grateful for everything he has in life. You can give him the smallest gift, and he goes on and on about how much he loves it. He's truly an inspiring kid."

Allyson says that Sam's diagnosis has changed her perspective on motherhood.

"If anything comes our way, we say 'yes,'" she explains. "We used to be very cautious. Now, we prioritize living in the moment. We've had so many amazing adventures. Sam has gone skiing and hiking. If there's something that we want to do, we do it in the moment because we don't know if we'll have the chance to do it in the future."

Rare Disease Day is celebrated at the end of February each year. On this day, millions of patients and their families share stories to raise awareness about rare diseases and their impact. Allyson's advice for families who might be facing a diagnosis?

"It does get easier. At first, it's awful because you're not certain, and it's always present in the background. But with time, your life starts to change. You start to become thankful for what your child is giving you. Before, I felt like we were just going through the motions and doing what was expected of us, but our life has so much more meaning and purpose now." ■

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One Boy Finds New Adventures Despite Vanishing White Matter Disease

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