Knowledge is Power

For Sabrina, Will, and their daughter Kinley, gathering knowledge on CMT4J has made all the difference in their journey. Kinley’s family is determined to live life to the fullest in the face of this rare, progressive disease.

Sabrina and Will live in Dallas, Texas with their two daughters. Their oldest daughter, Kinley, was born in 2004. Despite being born one month premature, Sabrina recalls that Kinley entered the world as a healthy baby.

In the early toddler years, Kinley’s development lagged. “Her developmental milestones were always just a month late… she was delayed but not enough for it to appear on a pediatrician’s radar,” Sabrina said. Sabrina realizes now that those early motor delays were the first signs of CMT4J.

By three and a half years old, Kinley’s lack of development became noticeable. “She was a very guarded walker. She did not take big steps; she did not step up onto curbs. She couldn’t ride a tricycle until four years old.” While she could walk, use her hands, and feed herself, her fine motor skills and balance did not develop as expected. Sabrina adds that Kinley was a slower mover than most other children her age.

Finally, after visiting a pediatrician multiple times without resolution, Sabrina and Will felt that Kinley’s developmental delays needed further assessment. When Kinley was five years old, Sabrina took her to a leading neurologist who narrowed down Kinley’s diagnosis to either CMT or spinal muscular atrophy (SMA). Shortly thereafter, genetic testing confirmed she had CMT4J.

It has been a long road to get to where they are today.

According to Sabrina, Kinley was the youngest person diagnosed with CMT4J at the time. With Kinley’s diagnosis coming only two years after the first ever case had been reported, there was very little information on her subtype of CMT. But Sabrina and Will were determined to know more about their daughter’s rare disease so that the family could best manage Kinley’s symptoms and disease progression.

Sabrina and Will eventually resorted to doing their own research on the internet and seeking out the few specialists who knew about CMT4J. When it came to acquiring information, Sabrina found that the actual diagnosis was the most helpful part. “Knowledge is power to me. I just needed to know the exact diagnosis and then we were able to research from there.”

Knowledge is power to me. I just needed to know the exact diagnosis and then we were able to research from there. – Sabrina

Despite the disease’s progression, Sabrina, Will, and Kinley remain optimistic. Sabrina affirms that Kinley takes active steps to help manage the disease’s effects, including occupational therapy, water therapy, physical therapy, acupuncture, and professional stretching.

“We’ve always done water therapy for symptom relief, acupuncture for her drop foot, and electrical stimulation to help with nerve pain,” said Sabrina.

Kinley is 15 years old now, and she has full walking ability. She does not use ankle and foot orthotics (AFOs), and she can do most basic tasks, such as brushing her hair and taking a shower. Kinley also has a very helpful sister to assist with difficult daily tasks, such as opening up a water bottle.

But living with CMT4J has not been easy, and Kinley’s family has hit low points on the journey.

Kinley’s high arches make finding footwear difficult, and she is still a slow mover. Her feet often swell painfully. Even with various therapies, Kinley’s reflexes have not improved. Says Sabrina, “When she falls, she falls all in. Her hands don’t come out to catch herself… if she’s falling face forward, her face will hit the ground.”

Still, Sabrina feels very fortunate that Kinley’s condition has not progressed much more since the diagnosis.

Kinley started attending public school this year. She has an Individualized Education Plan (IEP), although for the most part she enjoys a normal school routine. “Kinley likes to meet others with CMT4J,” says Sabrina. “Whenever we meet someone with her disease, we share perspectives and resources as much as we can.”

There are still days when Kinley experiences anxiety over her disease, especially with the lack of promising information that’s out there about CMT4J. But Kinley’s family feels hopeful for the future, and Sabrina says they are humbled by the resources they have.

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