HUNTER’S STORY
HUNTER’S STORY
THE BEGINNING
Hunter was born April 13, 2017, by emergency c-section. He arrived a little early and a little small at 4lbs. 2oz., but after 5 nights in the neonatal unit he was finally sent home. We were so relieved and overjoyed, it was the best day of our lives!
HUNTER’S FIRST YEAR… “he will catch-up”
We were so happy to be home together as a family. However, as Hunter developed, he was missing his developmental milestones. He was late turning over, sitting and crawling. Our pediatrician told us he was developmentally delayed, but nothing to worry about and “he will catch up.” We sought opinions from multiple specialists, all of them said the same thing, “he will catch up.” We enrolled Hunter in an Early Intervention Program, we were optimistic physical and occupational therapy would help him. Hunter began to make some progress, but when Hunter was a little over a year old he still showed no signs of standing or walking. As a result, we insisted on having genetic testing done. The results were negative. We were relieved, but confused, Hunter’s slight developmental delays were now severe.
AND THEN WE KNEW….
“just wait,” was not the answer!
Hunter turned two, but he was still not walking and we still had no answer. It was hard to watch his friends run circles around him. Being proactive and frustrated, we felt we could no longer “just wait.” We enrolled Hunter in a multitude of therapeutic services and he was fitted for braces to help him walk. We sought the opinion of another pediatric orthopedic surgeon who recommended a blood panel to rule out muscular disease. Hunter's Creatine Kinase (CK) level came back slightly elevated which would indicate muscular dystrophy, and again we were told, “not to be concerned.” But we continued to search for answers. Five months before Hunter’s third birthday we met with a geneticist who recommended we rerun genetic testing.
THE DIAGNOSIS…finally an answer, and our world turned upside down!
On May 19, 2020, Hunter had just turned three and we were completely blindsided when the geneticist telephoned us with devastating news. Hunter was diagnosed with an ultra rare, neuro-degenerative disease called Charcot-Marie-Tooth Disease Type 4B3 (CMT4B3). The geneticist informed us that there have only been 14 other documented cases worldwide. He told us to brace ourselves for what we would read on the internet. We were devastated as we read the horror stories of the few other patients. We sought out multiple CMT pediatric experts, who explained to us that there are no treatments and no cures for CMT4B3. They told us Hunter would progressively lose the use of his legs and arms, as well as possible blindness. We were asked to make our follow up appointment in a year. We were completely stunned.
AN ENDLESS SMILE…
Hope and a pathway to a cure!
Throughout the last three years, Hunter has been our superhero. He has endured surgery, an MRI, EMG, blood tests, sonograms, skin fibroblasts and endless doctors’ visits, yet he always maintains his contagious laugh and wonderful smile. Hunter cannot jump, ride a bike, walk down stairs, catch a ball or run like his friends, but he is a bright, loveable, social 3-year-old. Hunter plays with his friends, stumbles and falls, but then lifts himself up and moves forward. His decreased mobility, vision problems and hand tremors have not deterred him.
Hunter’s courage has transformed our sorrow into determination to find a cure. Hunter’s CMT4B3 Research Foundation will give a voice and hope to children suffering from rare diseases, as we advance research by funding laboratories worldwide that are at the forefront of scientific breakthroughs. Time is our enemy since progressive damage to Hunter’s nervous system can not be reversed, but we begin each day determined to find a cure for Hunter and other children with rare diseases.
WE NEED YOUR HELP NOW
Please help us to save Hunter’s quality of life and create a better future for our little hero and thousands of children who are suffering from peripheral nerve disorders and rare diseases! Our founders cover all organizational overhead, so 100% of your donations are given to research grants.
Hunter and his parents - Iris & Brett