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    Posted January 24, 2014 by
    Greenwich, Connecticut
    This iReport is part of an assignment:
    Living with a rare disease?

    Sam vs. VWM: Living with a terminally ill child

    In February 2013, our 2-year-old son 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. A few days later 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. There is no treatment or cure. It could be 2 years or 10, but Sam does not have very long.

    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 collectively 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.

    The severity of the disease is strongly correlated to the age of onset. Sam was diagnosed young and is progressing rapidly. In less than a year Sam has completely lost the ability to walk independently. He is now 3 1/2 and is only able to crawl to get around. He has severe hand tremors and his speech is very slow.

    The last year has been a roller coaster of emotions. We are thankful for every day we get to spend with Sam, most of the time 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.

    And then there is the fear. Not so much fear of Sam's death, but fear of what comes after his death. Will we know how to pick up the pieces? Will we lose ourselves, each other? We hope not, but there is no way to know.

    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. In the last year 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. He has experienced more in his 3 years than most do in a lifetime.

    Hopefully the lessons we have learned from Sam will carry us through the coming years. Every day is a gift, what is important in life is so clear for us now. We don't sweat the small stuff and we try to the most of every single day. For now all we can do is try to live in the present and take each day as it comes.

    Follow our journey at: www.facebook.com/SamVsVwm
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