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From Life-Changing Clinical Trials to Running for Rare: Justin’s Journey as a Rare Disease Father

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By Justin H. 

My name is Justin, and I am a father of three, including my youngest son Garrett. Garrett entered the world appearing healthy like his older brother and sister, but around 6 months, he began to lose ground on growth charts and was slow to meet developmental milestones. After attempts to treat reflux and recurrent ear infections failed to correct his course, a thoughtful pediatrician did a thorough physical exam and detected an enlarged spleen when Garrett was one year old. In that moment, the primary concern was for cancer, but radiologic imaging revealed enlarged organs and infiltrates in the lungs. Our pediatric hematologist then pivoted away from leukemia and started testing for metabolic disorders. Several weeks later, we learned that Garrett had acid sphingomyelinase deficiency (ASMD), also known as Niemann Pick disease. We were uncertain as to the severity of the neurologic involvement, but it was thought to be on the more severe side of the spectrum at the time.  

There were no FDA approved therapies for ASMD then. We learned that there was an enzyme replacement therapy being studied in adults, but there were no clinical trials or compassionate use programs for pediatric patients at that time. We lobbied and pleaded to no avail. Like many other rare disease parents, we were told to go home and enjoy Garrett for the few years the specialists anticipated we would have with him. 

I accepted his prognosis, but my better half insisted we do what we could to support Garrett through maximizing nutrition and getting support services involved, including speech therapy, occupational therapy, and other early childhood services. To our amazement, Garrett failed to regress the way we assumed he would between the ages of 2 and 5.  He was definitely “sick,” but he fought hard to recover after each setback. With Garrett surpassing the initial prognosis of 2-3 years of life, I felt the need to push for access to an experimental enzyme replacement therapy trial. I advocated for compassionate use for Garrett and patients like him for a number of years without success. It was incredibly hard to watch Garrett’s body succumb to a disease when a potential disease modifying therapy existed but was beyond our reach.  

Garrett somehow persevered through his first 5 years, surviving numerous ICU admissions, medical emergencies, and surgeries, before he received the life-giving news: He was one of 18 pediatric patients who had been selected to participate in a clinical trial to study enzyme replacement therapy for ASMD. The only clinical trial site was in Manhattan, so our family moved from Wyoming to New York to participate in the trial. Garrett started the trial on his 6th birthday, and 7 years after the start of that trial, we celebrated in New York with the most amazing teenager when olipudase alfa was approved for ASMD. It is a life-changing, life-giving therapy, and we are incredibly grateful to the village (ASMD community, researchers, clinicians, and drug developer Sanofi) who worked for over two decades to get it approved.   

Still, one of the hardest parts about participating in this trial was the reality that Garrett was one of a select few that had access to a life-changing therapy for years, while the rest of the disease community watched and waited for their opportunity as the disease progressed.  

For me, parenting is building the plane while I am flying it. I have learned a lot along the way, and offer the following to those who find themselves in similar positions: 

  • For the newly diagnosed patients, please connect with patient organizations so you can get support from people who have lived with your disease. They are the most likely to understand the path you have been forced to walk.  Don’t wait to reach out. You will be glad you did.  Meeting other rare families helped us feel like we weren’t in it alone. 
  • Managing a rare disease is best done as a team sport. Build your team. People around you will likely want to help in a variety of ways, so try to accept that help. It creates awareness, builds a support system for you and your family, and allows for good moments to come out of a crummy situation. This was a hard thing for me to do, but it was better for my son and my family when I let others help. 
  • Rare parents should not feel obligated to be outspoken patient advocates. Our primary job is to parent. Love your kids, support your family. Give yourself some grace and remind yourself that you are tackling the toughest job imaginable every day. As my kids would say, “you are killing it.” 
  • There are no unaffected kids in rare disease families. A rare disease affects everyone in a family and the siblings are often forgotten when it comes to support. Try to identify resources for them to connect with other rare siblings. The National Niemann Pick Disease Foundation provides a platform for rare siblings to connect with one another, giving them a chance to talk about their experiences at our national conference. For my family, this has been the most important and impactful program of our conference. 

Join Justin in #Running4Rare! 

I am looking forward to taking part in #Running4Rare this year! We had the pleasure of meeting Phil Maderia when he was honored at the Wylder Nation Foundation Gala in 2014. Phil honored Garrett by allowing him to be his rare disease Community Partner for the #Running4Rare team the following year. We got to know Phil and the rest of the amazing Maderia family: Anne, Abby, and Matty over FaceTime calls and over dinner. I was honored to be a member of the #Running4Rare team in 2016, running for an amazing young man with Cyclic Vomiting Syndrome. Experiencing both the patient and runner side of #Running4Rare provided me with the unique perspective of how impactful the team and the experience are on both sides of this awesome relationship.   

It was wonderful to see Phil and the #Running4Rare team honored at this year’s Rare Impact Awards.  Phil’s speech was moving in so many ways, and when he presented the challenge to get 50 runners for the Marine Corps Marathon in DC, I jumped at the opportunity. My goals for this year are to: 

  1. Raise money and rare awareness for a great cause 
  1. Get to know my rare patient partner and their rare journey 
  1. Enjoy the process with my all-star team of runners 

Join me in #Running4Rare at the Marine Corps Marathon, the New York City Marathon, or by #Running4Rare Anywhere. You can also be a Community Partner, someone living with a rare disease who is paired with a runner to motivate them and raise awareness and funds. Join the #Running4Rare family here!