Losing a Child to a Rare Disease

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 Neuroaxonal 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 doctor’s would simply tell me that we may never know what disease Zach has but your son’s going to die. 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.

As a mom you are left watching your child lose the ability to walk, the ability to talk and the ability to see, and as a mom you made sure that your grief at watching this happen to your precious child didn’t take over you and you made darn sure that he did things other kids could do. You see I made sure that no matter what we still lived life, that Zach did everything he could to be a normal kid, when his legs failed him we put him in sled hockey, or adaptive baseball. I sent him to school to hang with the typical kids for as long as I could. This rare mystery disease was not going to rob him of living the best life he could!

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 one doctor was doing research on it. This disease was Infantile Neuroaxonal 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 neuroaxonal dystrophy is a rare pervasive developmental disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal 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 deadly, rare, limited 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 3 out of 4 chance not to get this disease, but because he received the one bad copy I had and the one bad copy his dad had his luck was immediately bad.

The good news in all of this, is I refused to let this bad luck define him or me. We changed our luck immediately and realized that we were so lucky to be able to watch this kid change the world with his amazing smile and zest for life. We were so lucky that we got to experience 12 years with this amazing boy. To know Zach was to love Zach, but once you saw his amazing smile you loved him more and realized immediately how lucky you were to have him in your life.

We lost Zach to this evil, rare disease this past May, Mother’s day weekend. Zach was 12 when we lost him and out lived his life expectancy by 3 years. This Mother’s day will be hard, I know it will and I have to remember on this day how special and lucky I was to be a mom to an amazing kid. My Zach Attack. The kid who I was lucky to love and lucky to have!

As we come to Rare Disease Day 2014, please remember that there are lots 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 is not a lot of people battling them, but even if there is one or in Zach’s disease 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.