Tomorrow, February 28, 2015 is World Rare Disease Day. While you may have never heard of this particular day, it began in 2008 as a way to help raise awareness for rare diseases which are diseases that occur in less than 200,000 Americans at any one time. Approximately 80% of rare diseases are genetic. 50% of rare diseases touch children. Infantile Neuroaxonal Dystrophy, also known as INAD, is just one of these diseases.
I was lucky enough to have found the IR4, or I Run For Michael, organization through Facebook over a year ago now. IR4 was founded by Tim Boyle in 2013 when he was inspired by a friend battling illness. He came across what happens to be one of my favorite motivational quotes of all time and when he shared it, “Michael”, a gentleman with Down Syndrome, told Tim, “You can run for me anytime!” And so it began…
IR4 is meant to bring together runners with buddies who have a wide variety of special needs. The goal is to develop relationships, encourage and motivate one another, and even help to raise awareness for your buddy. Speaking from personal experience, this organization brings so much light, positivity, and hope into a world where so many are fighting illness day in and day out.
So, “Who do YOU run for?”
I RUN4 Angel.
I was matched with Angel on April 26, 2014 and little did I know how much this beautiful little girl, age 2 at the time, would impact my life. At the time, I had a healthy baby boy at home and had just given birth to a healthy baby girl one week prior. I had signed up for IR4 months before and was happy to have additional motivation to ramp up my running post-baby.
Upon being matched, I reached out to Angel’s Mom, Christina, and we started to get to know one another. Christina and her husband, Bradley, have 5 children. Christina informed me that both Angel and her sister, Layla, age 3 at the time, had just recently been diagnosed with Infantile Neuroaxonal Dystrophy (INAD). At the time, they were waiting for results to see if their then 6 month old son also had INAD. Thankfully, those results were negative. I had never heard of this disease so I asked Christina to share more with me and, being a Registered Nurse, curiosity got the best of me, so I started doing my own research to learn more.
* 9 diseases fall under Neurodegnerative Brain Iron Accumulation (NBIA)
* INAD is one of the most rare, with an incidence of approximately 1 in 1 million
* The exact number of INAD cases is not known, but it is estimated that approximately 25 children in the WORLD are affected by INAD
* INAD is genetic
* The same gene associated with Parkinson’s with Dystonia is responsible for INAD
* When the illness appears in a young child, it is referred to as INAD (instead of Parkinson’s with Dystonia)
* Life expectancy is 5 to 10 years
Children diagnosed with INAD are not born with any signs or symptoms. They progress normally and hit the typical milestones such as crawling, walking, and talking. However, diagnosis is most often made between 6 and 18 months of age as the child begins to regress and lose those milestones, ultimately becoming unable to move on their own due to lack of muscle strength. It is common to see frequent infections such as pneumonia, trouble eating, loss of vision, and eyes that seem crossed.
When I learned these fast facts, my heart completely broke into a million pieces for this family. Here I was, with two healthy babies in my arms, and my new buddy was fighting for her life every day, every minute. Christina and I continued to communicate and more recently, she shared with me what a day in her life is like.
“I wake up on and off all night with Angel crying in pain. She wakes up for the day screaming around 5 AM. On good days, she is calmed down by 6 AM and on bad days it can be an all day crying event. Layla wakes up at 7 AM in a good mood. By 8 AM, both girls have had all their medicines and are dressed for the day. At 8:30 AM, Layla gets on the bus and then I take my son to school. We go home for home visits from Help Me Grow or Nursing. Layla gets home at noon and both girls get feeds via their feeding tubes, along with more medicine. On Tuesday and Thursday, we get into our van for therapy at the Perlman center. There are 2.5 hours of physical, speech and occupational therapy. If we don’t go there, we got to go to another doctor appointment such as the pediatrician, neurologist, GI specialist, orthopaedic, optical (since they are loosing their eyesight), or dental. I think that’s all of them. At 3:30 PM, the girls get another feed and more medicine. Then, at 6 PM, our rough night starts. The girls get medicine to help them sleep. Their body fights it so badly that they usually scream anywhere from 30 minutes to 3 hours until their body finally gives up and they fall asleep. Then, at 10 PM we give them more medicine and hook them up to their pumps where they get feeds all night long. Then I go to bed if my son is asleep by then.”
Despite her illness, on good days Angel is full of smiles, loves seeing people, bops to music, and loves the Bubble Guppies. She is an amazing little girl on the inside and out. She, and her family, inspire me daily to stay positive, keep moving forward, be thankful for the little things, and get out there and run and move and sweat while I can. Angel may never know how much of an impact she has had on my life, but for someone so small, the impact has been enormous. She has taught me that there is no time in life to make excuses. There is only time to take action and DO. She has taught me the importance of every moment with those you love and to live in those moments. She has taught me the true meaning of strength and courage.
So tomorrow, on World Rare Disease Day, remember children like Angel, her sister Layla, and their entire family.
Wear jeans to show your support.
Help to find a cure for INAD by clicking the link below and making a donation of ANY size to fund research.
Run For Your Sole is meant to inspire others one step at a time. When you THINK you’re having a tough day, remember to put that into perspective. Remember how lucky you truly are to have the ability to walk, talk, watch your children grow, get a good nights sleep, or run. Think of the quote above that inspired Tim Boyle of IR4, and maybe you will be inspired too.
Interview with Christina Martin on 2/25/15