Sam vs VWM: Living with a rare, terminal disease

The story of Allyson

Before February 2013, Sam was a normal, healthy kid. He was a little clumsy, but nothing that we were concerned about. One day in February, Sam was playing on the bed, when he fell off onto the carpet. He was unresponsive for 30 seconds. When he came to, he seemed to be unharmed but, when we tried to stand him up, he collapsed, unable to stand. We knew something was wrong so we called an ambulance. At the hospital, they suspected a hip sprain, and sent him home.
After 6 weeks, several visits to the doctor, and minimal improvement in Sam’s walking, we insisted he be sent for further tests. That is when a CT scan showed that there was something very wrong. We got a call on the Saturday before Easter telling us to cancel a planned vacation and that we would need to be at the hospital for further tests the following week. That was when we knew that whatever Sam had was serious, though nothing could have prepared us for the diagnosis we got. That week an MRI was performed and on April 4, 2013 we got the worst news that any parent could possibly hear. Our son has a very rare brain disease. It is terminal, there is no treatment or cure.
Vanishing White Matter disease (VWM), also known as Childhood Ataxia with Central Nervous System Hypomyelination (CACH), is a very rare condition that destroys myelin, the brain’s white matter. In doing so, it permanently affects transmission of brain signals to the rest of the body. It is one of about 40 conditions that affect the white matter of the brain known as Leukodystrophies. There are currently only about 250 people worldwide who are known to suffer from the disease.
VWM is chronic and progressive, and is unusual in that periods of rapid and severe deterioration can be caused by minor head trauma, fevers and even anesthesia. Few sufferers survive more than 5-10 years after onset. While every patient is different, as the disease progresses, sufferers can expect some or all or the following symptoms: loss of motor skills, loss of vision, epileptic seizures, vomiting, irritability, and comas.
Since diagnosis, Sam has completely lost the ability to walk independently, he has severe hand tremors and his speech is very slow.
Life is now a roller coaster of emotions. We are thankful for every day we get to spend with Sam, he is a joy to be around. He smiles, laughs, and shows affection with ease. How we will ever be able to live without him, we can’t even begin to imagine.
But every day is also a struggle. As any parent with a disabled child will tell you, it is hard and exhausting, both mentally and physically. During the day it is easy to be happy, almost normal, though often by the end of the day you are spent and the sadness and depression sets in. It is a life of extremes. The tears are always just under the surface. When Sam says things like ‘I want to be an astronaut when I grow up’ it shatters you heart into a thousand pieces, watching other children Sam’s age run and play brings on almost physical pain. This constant sadness is at odds with a heightened ability to take joy from life and all it has to offer. You mourn the life that your child will not get to lead, the ‘normal’ childhood that your other kids will no longer have, the ‘normal’ parent that you can no longer be.
Unbelievably, there are positives as well. We are more understanding, more patient and more compassionate than we were before Sam’s diagnosis. Our priorities are very clear and we don’t let the little things bother us. There is a lot less yelling in our house than there used to be and Sam’s siblings have developed an extraordinary amount of empathy for kids their age. We have also witnessed unbelievable kindness and generosity from friends and strangers since Sam’s diagnosis, which mean more to us than those people could ever imagine.
When we were told Sam had VWM, it was clear we had a choice to make. We could become very protective and try to keep him with us as long as possible or we could let him live life fully, even if that meant he left us sooner. We chose the latter. Life has to be lived no matter how long we have on this earth. Since his diagnosis, Sam has been to his first concert (Train – his favorite song is ‘Drive By’) and met the band, getting a big hug from the lead singer much to Sam’s delight. He has eaten pizza in Naples, ridden in a gondola in Venice, celebrated his birthday in Budapest, sat on Santa’s lap in Lapland, and even met the Duchess of Cambridge and the Liverpool Soccer Team. He has experienced more in his 4 years than most do in a lifetime.
Hopefully the lessons we have learned from Sam will carry us through the coming years. We hope to give Sam the life he deserves to have, albeit in a much condensed timeline. We hope to give him new experiences, take him to see new places and meet new people most of all we will hope for as much time as we can get with our little boy.

Follow our journey at: