{"id":149525,"date":"2023-06-17T12:00:28","date_gmt":"2023-06-17T16:00:28","guid":{"rendered":"https:\/\/rarediseases.org\/?p=149525"},"modified":"2023-06-20T11:01:31","modified_gmt":"2023-06-20T15:01:31","slug":"justin-fathers-day-story","status":"publish","type":"post","link":"https:\/\/rarediseases.org\/es\/justin-fathers-day-story\/","title":{"rendered":"From Life-Changing Clinical Trials to Running for Rare: Justin\u2019s Journey as a Rare Disease Father"},"content":{"rendered":"

By Justin H.<\/span>\u00a0<\/span><\/p>\n

My name is Justin, and I am a father of three, including my youngest son Garrett.<\/span><\/b> 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 <\/span>acid sphingomyelinase deficiency (ASMD)<\/span><\/a>, 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.\u00a0<\/span>\u00a0<\/span><\/p>\n

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. <\/span>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<\/span><\/b>.<\/span>\u00a0<\/span><\/p>\n

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.\u00a0 He was definitely \u201csick,\u201d 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\u2019s body succumb to a disease when a potential disease modifying therapy existed but was beyond our reach.\u00a0<\/span>\u00a0<\/span><\/p>\n

Garrett somehow persevered through his first 5 years, surviving numerous ICU admissions, medical emergencies, and surgeries, before he received the life-giving news: <\/span>He was one of 18 pediatric patients who had been selected to participate in a clinical trial to study enzyme replacement therapy for ASMD<\/span><\/b>. 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 6<\/span>th<\/span> birthday, and 7 years after the start of that trial, we celebrated in New York with the most amazing teenager <\/span>when olipudase alfa was approved for ASMD<\/span><\/a>.<\/span> 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.<\/span>\u00a0\u00a0<\/span>\u00a0<\/span><\/p>\n

Still, one of the hardest parts about participating in this trial was the reality that <\/span>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 <\/span>as the disease progressed.<\/span>\u00a0<\/span><\/b>\u00a0<\/span><\/p>\n

For me, parenting is building the plane while I am flying it.<\/span><\/b> I have learned a lot along the way, and offer the following to those who find themselves in similar positions:<\/span>\u00a0<\/span><\/p>\n