Four years ago, Sam’s parents Allyson and Nick noticed that Sam wasn’t feeling well.

“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.”

An uncommon diagnosis

It was then that Sam was diagnosed with vanishing white matter disease (VWM), a devastating condition that destroys myelin, the brain’s white matter. Symptoms generally appear in young children who appear to be developing normally.

“In all of London, Sam was only the second case any pediatric neurologist had ever seen,” his mom shares.

Only 250 people in the world have been diagnosed with VWM. There are hundreds of diseases that are individually rare, but collectively common. In the United States, a rare disease is defined as a condition that impacts fewer than 200,000 people. These diseases affect about 400 million patients worldwide.

A SMALL COMMUNITY: The rare disease community is small, but each diseases's sub-community is large in comparison. This is not true for Sam, whose ailment only affects 250 others in the world.

“The pediatrician told us that there’s no treatment, no cure — there’s nothing,” Allyson recalls. Their doctor cautioned: “We don’t know how long your son has, so you’re going to have to make the best of it.”

And that’s exactly what Allyson and Nick did.

New perspective

“We’ve had so many amazing adventures,” Allyson expresses. “Sam has gone skiing; he’s gone hiking. He’s the most incredibly happy kid you’d ever meet.”

The motor difficulties of VWM are progressive, but the progression is often gradual, in association with fever or injuries. This fact hasn’t kept Nick and Allyson from providing Sam with a full-bodied, invigorating life.

“His disposition is incredible,” Allyson explains. “He never complains, he never 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.”

CAUTION TO THE WIND: Above all, Sam's family is insistent on ensuring he enjoys every minute of his life. With less information on the disease, there's not enough time to be continuously cautious.

How has Sam’s diagnosis changed their family’s life?

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

A call for action

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 rare diagnosis?

“At first it’s awful, because you’re not certain and it’s always present in the background,” she warns. “But, over 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.”

Allyson’s final remark? “It does get easier.”