Ethan came into the world in July 2010, an adorable 9lb 11oz giant who spent his first hours quietly observing the world around him. He ate well, rolled over on time, and charmed his way into the hearts of everyone that met him. Even as a very young child Ethan had a special air around him, somehow both mischievous and innocent—and oh so very sweet. He was born with soft clubfeet and at his checkups providers appeared to have trouble eliciting reflexes in his legs, but not much was thought of it at the time and there were no developmental concerns. The first sign of a problem came when he was 4 months old. When he was in his stroller, his legs seemed to just dangle limply, not kicking around like other babies’ legs. Then the delays in his milestones became more and more significant, and by 18 months he wasn’t even close to walking. We were referred to a local neurologist and began our journey toward finding the needle in the proverbial haystack. Ethan was tested for every known childhood neuromuscular disease in the book, and even some extras, such as cystic fibrosis. All tests came back normal. He finally walked at 22 months, and we chalked his delays up to a likely mild muscle disease known as a myopathy.
At 29 months, Ethan received a nerve conduction study at Seattle Children’s Hospital which showed significantly slowed nerve conduction speeds, and a diagnosis began to emerge. He had a severe form of Charcot-Marie-Tooth (CMT) disease. Doctors didn’t have a clear prognosis but thought at worst, he might eventually be wheelchair-bound. And so the genetic testing for CMT variations began, but all the tests came back normal. During this time Ethan had his feet serial casted to fix the clubfoot deformity, and continued to walk for about a year. During this time, even just walking began to take great effort, and he had to start using a walker occasionally … and then more and more often. Despite the difficulties he faced, Ethan’s favorite phrase during this time was “I can do it myself.” He wanted so badly to interact with the world on his terms and was determined to let nothing hold him back. Suddenly, after turning four, he lost the ability to use his walker functionally and began using a manual wheelchair. We were already at our worst-case scenario, and had gotten a diagnosis only 2 years earlier.
Sadly, the loss of motor function is not the only medical setback Ethan has to contend with. Since he was 18 months old he has also suffered from repeated respiratory infections, often resulting in pneumonia and trips to the ER. Our little boy happily playing Minecraft while hooked up to a myriad of breathing tubes and machines during his respiratory treatments is a common sight for us during the winter and spring. Knowing the course this disease will take, we anticipate the use of even more invasive breathing assistance in the future. In addition, during these illnesses Ethan loses motor strength and sometimes can’t regain it.
As test after test came up with no CMT mutation, we knew we had to do something more. We pushed for a much more extensive test known as exome sequencing in the hope it would give us an answer, waited many months, and finally got an answer we didn’t want to hear: Ethan had CMT4J, and the prognosis was devastating. Only 22 people in the world had the disease, and we were sure this meant there was no way anyone in the medical community was interested in finding a cure. We held out hope that maybe someday we would find a clinical trial if more diagnoses were made.
But just a few days later we found Dr. Jun Li, a specialist in CMT4J, and our world changed. Our tiny bit of hope blossomed and we allowed ourselves to imagine a different future for Ethan. One where he could reach the potential we all see inside him. One where life didn’t have to be so hard for our sweet boy. Dr. Li was quick to respond and very interested in seeing Ethan, and so we made plans immediately. When we explained to Ethan we would be traveling to see a very special doctor who sees patients with his exact disease, the first words out of his mouth were, “Will he fix my legs?” We told him “no,” and explained that Dr. Li had to research for a very long time before finding out how to help him. He accepted this without question, with an ever-growing understanding of his own limitations that should never have to exist in a 6 year old’s mind.
Meeting Dr. Li was shocking. We have never seen such excitement from a physician, or encountered someone who saw Ethan’s disease as something other than hopeless. He is undoubtedly a man of action, and when your child has an ultra-rare, life-threatening disease, that is an unbelievable gift. And not only had we found someone dedicated to finding a cure, but during our visit Dr. Li referred us to the Talia Duff Foundation—and suddenly we were not alone. Now we have allies who are as committed to the journey as we are, who feel, as we do, that no matter the odds this fight is worth it. We are beyond grateful to have a chance to fight for Ethan, others with CMT4J, and the many others with rare diseases.
Ethan is an amazing child, an unforgettable human being. He is extremely bright, charming, outgoing, and willful. He loves making new friends. He is an entertainer. He loves science and technology and wishes to someday engineer robot legs, when he’s not busy being president. He doesn’t quite understand the concept of gene therapy, but our greatest wish is that someday he will have the opportunity as an adult to marvel at something that not only saved his life, but went on to save many, many others. In the words of his kindergarten teacher, “Ethan doesn’t like to be told no, but he is the kind of person who changes the world.”
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