Just like any other 7-year-old little boy, Ethan Perkins has big dreams. He loves trucks and reading, and wants to study fossils as a paleontologist reported KXLY. He also wants to be able to walk again.
Ethan was diagnosed with a super rare genetic disease called Charcot-Marie-Tooth, type 4J, which has kept him confined to a wheelchair. He has progressively lost function in his legs and arms. Many people compare the symptoms to ALS, but these symptoms in this rare disorder begin at a younger age. To learn more about Charcot-Marie-Tooth disease click here.
Ethan is just 1 out of 30 people diagnosed with this type of Charcot-Marie-Tooth, also known as CMT4J. Besides degeneration of movement (difficulty using one’s muscles), symptoms include trouble breathing. There is currently no cure for the disease. Due to the rarity of the disease, it took the Perkins family years to find a diagnosis. It was a doctor at Vanderbilt that made the connection. He then introduced the Perkins to another family that had a young girl suffering from the disease as well, since he thought they could be of assistance to one another.
Since it’s a genetic disease, gene therapy is the most promising option, which is a procedure in which a mutated gene is replaced in the body with a healthy gene. There are many different rare diseases caused by genetic mutations, and gene therapy has been successful in clinical trials– recently resulting in a ground-breaking FDA approval for inherited blindness. Yet, a gene therapy for CMT4J in humans hasn’t been developed just yet. In clinical trials, researchers saw total improvement in mice. Now these doctors just need FDA approval for human trials, which could be the answer to the Perkins, and many other families’ problems.
To know they are close to something that could change Ethan’s life is amazing, but it still comes with its qualms. This type of research is very costly and cannot happen unless sufficient funds are raised. Thankfully, when the Vanderbilt doctor connected them to another family, they joined forces to start a huge fundraising campaign. So far, they’ve been incredibly successful, but they haven’t reached the goal just yet.
The goal is to reach $1 million dollars by the end of the year and currently the CURECMT4J organization has raised over $770,000. They aren’t far from their goal, but they have a New Year deadline. So as the final days draw near, let’s help the Perkins family reach their life-changing goal!
To learn more about Ethan’s campaign and how to donate, click here.
