After 12 long years and four different neurologists, Shelbi Ritter was diagnosed with CMT1E. During this process, Shelbi’s parents, Crystal and Ben, grew frustrated with the lack of answers. They didn’t know how to best help their daughter and what her future would hold. Now, they are all educated about CMT disease. They even learned that Crystal is a carrier of the genetic mutation despite not showing symptoms. Although living with CMT comes with its challenges, Shelbi and her family have made strides in maintaining a positive mindset and advocating for Shelbi’s needs.

CMT1E is a rare form of CMT, accounting for approximately one percent of people with genetically confirmed CMT. Children often show symptoms within the first two years of life and many patients will progress to needing ambulation aids. Shelbi experiences difficulty with walking, fatigue and neuropathy, resulting in the need to use a wheelchair. Because of the severity of her symptoms, Shelbi and her family face many challenges and wish more people understood their situation.

Crystal says, “It’s a challenge to get people to see her and not the wheelchair and disease. People constantly treat her like she’s a small child even though she’s almost 17 years old and is small in stature. Just because her muscles and nerves are not as strong as others doesn’t mean that she is helpless. Please let her try to do things for herself instead of doing them for her. And know that this disease does NOT define who she is!”

As parents and caregivers, Crystal and Ben face the challenges of defending Shelbi against and educating judgmental individuals, affording care and equipment that Shelbi needs and insurance won’t cover, and learning to support Shelbi’s independence.

Shelbi wants others to know that while her CMT can be painful at times, she is still strong and independent. She is still able to stand and use her legs despite using a wheelchair, and her strength comes in knowing how to effectively use the tools available to her.

The challenges that Shelbi faces have not stopped her from fully engaging in life and her interests. Her perseverance stems from the strong leadership of her parents, who have always stressed that CMT will not define Shelbi, and that it’s important to engage in activities and develop a daily routine.

On a typical day, Shelbi attends both high school and technical school for graphic design. Navigating school and the halls can be difficult at times with her wheelchair. She has an IEP that allows her to leave her classes a couple of minutes early to avoid crowds if needed, and it can be helpful at times to navigate the halls with a friend.

She has several extracurricular activities that she does throughout the school year such as archery, Dungeons and Dragons club, and theater. Shelbi is incredibly passionate about archery and qualified for Nationals in the past year. To aid her, she has a stand that holds her bow; but the precision, accuracy, coordination, composure, and depth perception all come from Shelbi.

To Shelbi, having CMT means she is going to have a harder time accomplishing certain tasks, but she will figure out a way to overcome them. To Crystal and Ben, it means that they have to watch their child face challenges, but that her strength, determination, and ability to overcome them makes her the person that she is.

To others in the CMT community, Shelbi says, “It’s important to stay active, stretch daily, try to keep a positive attitude, and don’t let this disease get the best of you.”

To CMT parents and caregivers, Crystal says, “Be patient, every child is different. Don’t be afraid to stand up for what you or your child needs, be an advocate! Take time for yourself and your spouse without your child. Find a good support system. Don’t be afraid to ask for help. Don’t blame yourself for this disease. Don’t be afraid to get a second or third medical opinion. And always TRUST YOUR GUT!”