Preparing For What Comes Next

Ethan and his family imagine a future in which Ethan’s rare subtype of Charcot-Marie-Tooth disease, 4J, is understood by physicians, insurers, and patient families alike. Ethan began coping with his disease at a very young age and, along with his family and care team, has spent years since trying to predict and prepare for what’s to come.

 

When Ethan was born, his father Daniel recalls that Ethan’s upper body looked like that of a football linebacker. Born without any known complications, Ethan seemed unusual in that his legs looked small compared to his otherwise large build. Ethan also had a clubfoot. Daniel, a physician’s assistant himself, knew something was wrong.

It was a difficult first two years for Ethan’s family. Daniel and Ethan’s mom Victoria raised their concerns with Ethan’s pediatrician, then with multiple neurologists. A nerve conduction study finally confirmed Ethan’s CMT diagnosis.

It was not until they advocated for a diagnostic genetic test that the family received Ethan’s subtype 4J genetic diagnosis. In the midst of educating themselves on the intricacies and severity of Ethan’s CMT4J case, his family also had to educate themselves and advocate when working with insurance companies. Other subtypes of CMT often present much more mildly in children and adults, so they began to wage an uphill battle to get the necessary insurance coverage for Ethan’s extensive medical care and the durable medical equipment essential to managing daily life.

It takes a lot to manage Ethan’s care; it is a full family commitment. Victoria and Daniel, Ethan’s parents, continue to work together even though they now have different spouses. Jason and Katie are fully contributing members of the team and are important to Ethan’s success. “We all get along, we all work together to make things the best they can be for Ethan,” says Daniel.

The family’s next steps were clear when they found an article published on CMT4J genetic research. They contacted the researching physician directly to set up an office visit. “We felt more hopeful as soon as we knew what was going on,” remembers Daniel. “Once you know the cause, you’re that much closer to the solution.”

With doctors’ visits and exhaustive late-night research, they began to piece together the available information to see what Ethan’s disease looked like at a biological level. Found through referrals from Ethan’s primary care physician, the specialists on Ethan’s disease management team now include a neurologist, a pulmonologist, an orthopedist, a physical therapist (PT), an occupational therapist (OT), and a sleep specialist.

We felt more hopeful as soon as we knew what was going on. Once you know the cause, you’re that much closer to the solution. – Daniel

Because of the limited existing research on CMT4J, even Ethan’s doctors can’t tell him what the progression will look like or how fast it will happen. In Daniel’s words: “We would go through periods of significant loss all of a sudden — it was like one day he could walk and one day he couldn’t.” Ethan used to walk with adaptive devices but now navigates life in a wheelchair. He has lost most of the function in his hands.

At this stage, Daniel points out that it’s important for parents of children who might have CMT4J to know the types of ongoing tests required post-diagnosis. Ethan has routine pulmonary and swallow tests; he also participates in sleep studies. When Ethan’s results come back, there are sometimes corresponding management strategies to explore. Ethan’s most recent surgery was performed to help correct his scoliosis, which had impacted his breathing and causes him a lot of pain.

It’s important for parents of children who might have CMT4J to know the types of ongoing tests required post-diagnosis. – Daniel

Ethan has been described as “off-the-charts smart,” “8 going on 18,” and a “world-changer.” Despite his physical limitations, Ethan explores and engages with the world. He’s extremely bright and sociable, and he has a love of video games and watching videos. Ethan has an eye tracking device on his laptop, an adaptive video game controller, and a voice command headset that allow him to interact with technology.

Daniel wishes they had someone to bounce ideas off though. “It’s been very difficult for us to find other parents who understand our daily life, what we’re going through and our daily stress. We’ve looked for support groups, but there aren’t many kids with what Ethan has.” The family has since found support in CureCMT4J, a family foundation which provides advocacy support to families.

Today, Ethan and his family still consider their biggest challenge to be anticipating what comes next and how to prepare for it. As parents and caretakers, they worry that they’re always one step behind. They ponder questions like “What medical specialist does Ethan need to see next?” and “What type of adaptive equipment will make our home better suited for Ethan’s daily activities?”

School readiness is also a concern. Ethan is in a very supportive public school system and has an aide who helps him with school work. His parents and teachers created, and annually update, an Individualized Education Plan (IEP) as Ethan’s condition progresses. Ethan now does some of his own disease research, and he knows how to articulate CMT4J to others, whether that’s through a class presentation or talking to people at the Muscular Dystrophy Association.

Ethan has asked questions about whether he’ll be able to walk again, and whether the condition is terminal. He has overcome more physical obstacles than the average eight-year-old, but he remains charismatic and optimistic in the face of CMT4J-related challenges. Ethan’s resilience motivates his parents and caregivers to fight for the future and whatever hopeful answer might come next.

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