The story of Rachele
Our family joke was always “if we didn’t have bad luck, we wouldn’t have any luck at all.” We would all laugh at that statement until one day that cruel joke hit my happy almost 2-year-old Zach.
You see, my son Zach suffered from a rare disease called Infantile Neuro-axonal Dystrophy, INAD for short. We went from seeing a very healthy baby who hit all his milestones to slowly losing his every ability. In sum, we watched as his body failed him.
For the next 6 years, I went across the United States pleading with Doctor’s to help us. Numerous times my Zach was given what turned out to be a false diagnosis. Other doctors would simply tell me that we may never know what disease Zach has, but whatever it is, it isn’t good. In other words, even though we don’t know what it is we do know it’s progressive and you will watch your child lose everything. He will die.
After making sure Zach had the best day possible and after he was in bed for the night, I went into what I call “research mode.” I would research and research and research, until one day or I should say one middle of the night I happened to put the right combo of Zach’s symptoms in and I finally came across a disease that looked like what Zach had. The next day I was in Zach’s neurologist office getting blood work to send to Portland, Oregon to get confirmation of a disease that was so rare that only a few doctors were doing research on it. This disease was Infantile Neuro-axonal Dystrophy.
6 weeks later and 7 years after Zach got sick, I finally received a letter in the mail confirming what I already knew. Zach had INAD.
Infantile neuro-axonal dystrophy is a rare pervasive developmental disorder that primarily affects the nervous system. Individuals with infantile neuro-axonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. Eventually they lose previously acquired skills. This condition is inherited in an autosomal recessive pattern, which means two copies of the gene (PLA2G6) in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.
My Zach had a rare, deadly disease that he was going to die from. It was bad luck, you see I am a carrier and so was his dad, but we both had a good copy of this mutated gene and that’s why we are healthy. Zach had a 75% chance of avoiding this disease but because he received the one bad copy I had and the one bad copy his dad had he automatically had INAD.
We lost Zach to this evil, rare disease Mother’s day weekend 2013. Zach was 12 when we lost him and he out lived his life expectancy by 3 years, but he didn’t really ever have a chance. His disease is not well known, there are very few doctors’ that are working on it and the 100 kids that have been diagnosed with it seem to present very differently from each other. We have amazing researchers that are working very hard at trying to find a cure for our families but a lack of funding, lack of support from the government and a lack of people understanding and funding rare diseases are making cures very difficult to obtain.
There has been amazing progress in the 4 years that Zach has been in Heaven because the amazing families out there who are watching their child lose everything are not taking no as an answer and are finding ways to fund the few researchers who are actually researching INAD. They have actually talked of a possible cure in the next 10 years- which excites me, but it isn’t going to happen unless people and government understand that rare diseases are just as in need of funding as the big diseases. We need our law makers and government making sure that the right research is being done and that promising therapies are getting the funding they need so that another family doesn’t have to go through what we have had to go through.
My amazing Zach has been in heaven for almost 4 years now and there is not a day or even a moment that goes by that I don’t think of him, miss him and ache to see his amazing smile- but there is also not a day that goes by that I don’t pray for a cure for this disease. I don’t want to see someone new added to the Facebook page every day because their child was just diagnosed with this awful disease. I don’t want them to know my and many of my friend’s reality. This beast takes everything away from their child. I want them to know a cure. I don’t want another person to lose their amazing child/ or amazing family member from a rare disease.
So please help me on February 28th to bring awareness to rare diseases so that someday we will never ever have to talk about a rare disease again. Please help me remember that there are a lot of rare diseases that are robbing people of their lives everyday. Very little research goes into these diseases because they aren’t the big named diseases. I have found that this is one of those things that I find very hard to accept. No life should be determined by how much research money they get. These rare diseases get the shaft big time because there are not a lot of people battling them, but even if there is one person or in Zach’s case 100 in the world they are all worth trying to save. We just need to get the word out. Someday with time and research, I hope we are lucky and have fewer and fewer rare diseases and can come up with a cure that saves someone’s beloved family member. I still want this even though I know I will never get my Zach back, but I can continue to honor Zach and help make sure there is hope in our future. With faith comes hope!