November 29th 2016
Our little boy, Ryker James, weighed 8.5 pounds and was 21 inches long when he was born. He was perfect and beautiful. At the time, we had no idea that he had Pompe Disease and that it had already started to enlarge his heart. We went through weeks of labs being monitored for liver enzymes being elevated after he was born and episodes of Ryker having retractions with breathing that no one could explain. When he was eight weeks old, he was rushed to the hospital after his heart rate soared to 300 beats per minute. Ryker was lucky he lived through that night.
At the children's hospital, we found that Ryker has hypertrophic cardiomyopathy, as well as an electrical problem called supraventricular tachycardia (SVT), which causes his heart to beat extremely fast, to the point he cannot perfuse his organs. His heart was very enlarged and thick, making it difficult to pump blood out of the heart to the rest of the body. Doctors started Ryker on two different heart medications, administered every four hours around the clock. His blood was drawn to test for genetic disorders that could cause the hypertrophic cardiomyopathy. It was also noted during that time that Ryker’s muscles were weaker than normal. He struggled to lift his head, appearing more like a newborn than a two month old.
After two hospitalizations, and multiple scares that we would lose our baby, we received a phone call from Ryker’s geneticist informing us that he has Infant-Onset Pompe Disease. We faced overwhelming fear and sadness and spent our days researching the disease, trying to figure out what our son’s future would be.
Ryker was soon admitted to the hospital for surgery to place a central line that goes into his heart for enzyme replacement therapy (ERT), which is currently the only treatment to help with Pompe Disease. Ryker received his first dose of ERT on April 5, 2017, at four months old. Since then, there have been many obstacles for him to overcome including, needing a feeding tube for three months to help gain weight. He has had pneumonia several times due to a weak cough, and now requires nebulizers twice a day. He still is behind on all of his motor milestones, but is slowly getting stronger with the help of physical therapy and the infusions. Though we may not know the future, we have every hope that Ryker will continue to improve. In the meantime, we wait for advancements in the medical world.
We started this foundation in honor of Ryker, because we hope to spread awareness and raise funds for research and medication advancement. Pompe Disease is rare, making it extremely important to reach out and fight for funding and recognition to help those affected. Please join us today and become a Pompe advocate!
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