2-Year-Old Started Stumbling After He Fell Off A Bed And Ended Up Getting Diagnosed With A Very Rare Disorder

Date October 3, 2018

Sam's story 

Sam Buck seemed to be a healthy and happy toddler who reached milestone after milestone. Then, on one fateful day, 2-year-old Sam fell off a bed and his family’s life changed forever.

On February 23, 2013, the boy was playing on his parents’ bed. Suddenly, he fell off. His mom and dad ran up to him and realized he had passed out. In about 30 seconds, he regained consciousness and started crying. Sam’s parents tried to help him get back on his feet, but he couldn’t stand up.

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The family, who were living near London at the time, called 999. The EMT tried to stand Sam up but the boy couldn’t stand. When the family got to the hospital, doctors told them it was probably just a hip sprain and sent them home.

Several weeks after the fall, Sam still couldn’t walk well. The family got back to the hospital and demanded more tests to find out what was really happening with their son.

A CT scan of Sam’s brain showed something wasn’t right. The family got a referral to a pediatric neurologist in London. Several appointments and numerous tests later, they finally learned the possible cause of Sam’s symptoms: he likely had vanishing white matter disease, an extremely rare genetic disorder affecting the brain. The disease is estimated to affect only 250 people worldwide, Sam’s mom wrote for Love What Matters.

Mysterious condition 

Vanishing white matter disease (VWM) is a progressive disease. It can be accelerated by even a slight bump on the head, the family learned. VWM causes loss of motor function and, eventually, death. The earlier in life a patient is diagnosed, the worse his prognosis tends to be. Children who are diagnosed in their third or fourth year of life have a life expectancy ranging from a few years to a decade.

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Several months after the initial diagnosis, a genetic test confirmed that Sam indeed had VWM. It was hard for the family to come to terms with Sam’s diagnosis. After a period of mourning the life Sam would never have, they decided to make the most of what he had left.

Allyson, Sam’s mom, wrote for Love What Matters:

Since his diagnosis, Sam has been to his first concert (Train – his favorite) and met the band. He has eaten pizza in Naples, ridden in a gondola in Venice, celebrated his birthday in Budapest, gone downhill skiing in Vermont, sat on Santa’s lap in Lapland, met Sebastian Vettel, his favorite race car driver, and even water skied. He has been to 42 states and 22 countries (we are trying to get him to all 50!). He has experienced more in his 8 years than most do in a lifetime. Though it is getting harder and harder as he is getting older, we will continue to try to give him as many of life’s experiences as we can while we can, hoping to give him the life he deserves to have.

Shortly after Sam’s diagnosis, his mom and dad decided to act. They established The VWM Families Foundation in a bid to raise money for VWM research.

The family has been documenting their journey on a Facebook page. Although Sam’s future is uncertain, the family chose to live in the moment and have as many exciting experiences as they can.

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