December 19, 2016 was a day that we were looking forward to, but also dreading. That was the day that we found out Jakeb had CMT4J. After months of waiting on different genetic testing, we finally received an answer. But it was not the answer we were expecting. The geneticist and neurologist seemed to tip-toe around the diagnosis. Slowly, the conversation progressed, as they detailed what they knew about CMT4J and what the future held for our son. We were stunned. They kept asking if we had questions. The few questions we did have, they couldn’t answer. The only sure thing they could tell us was that there was no cure.
Next steps included several upcoming appointments, including a pulmonary appointment, as CMT4J can affect a person’s breathing. We were also told to be ready to talk about a motorized scooter at our next appointment. Wait. What??? Slow down! We just got braces in November! We were not prepared for this.
After a long, sad two hours, we left the hospital feeling drained, on the verge of tears, and hopeless. This is not how we envisioned our son’s future. We stopped for lunch, trying to put on a brave face for Jakeb. I grabbed my phone and posted to a CMT Facebook forum: “Does anyone have CMT4J?” Quickly, someone directed me to the website CureCMT4J.org. I pored over every word. The despair I felt started to ease as I read that CureCMT4J was working on a cure! Shortly after, Jocelyn reached out to us and we spoke on the phone a few days later. We walked away from that conversation feeling that a cure was within reach. Gene therapy might not just stop the disease, but also possibly reverse the damage already done. We felt HOPEFUL!!
Jakeb’s CMT4J is starting to progress rapidly. His hands ache all the time. Sometimes he has a hard time breathing. Leg braces help, but he still struggles to climb stairs or walk longer distances without tiring. Getting in and out of our car or riding his bike become more difficult each week. Jakeb was once a competitive hip-hop dancer. Now he struggles to tie his shoes and button up his pants.
Please help give Jakeb, Talia, Ethan, and all others with CMT4J hope. Hope that they can regain the independence they have lost. Hope that they can just be kids again. HOPE.