Hello and welcome to the fundraising page for our daughter Kennedy. Kennedy is a spunky second grader who loves unicorns, glitter, Jo Jo Siwa and her bestie Zoe. Our daughter has had quite a journey with her medical issues that started in the first few years of her life. She has had brain surgery, tummy surgery and extensive testing.
It took several years and several states to receive her diagnosis. In the spring 2017 we received the first clue when her genetic testing revealed a mutation on her SETX gene. This gene is responsible for the development of the nervous system. The genetic physician suspected Juvenlie ALS given her mutation and symptoms. However, he could not give her the final diagnosis. We were able to get in touch with a physician at the NIH (National Institue of Health). Within just a few months we flew to Bethesda, where they did clinical exams, and took blood and skin biopsies from Kennedy and her parents.
We then headed back home while the team worked diligently with additional gene sequencing and cell models. In March of 2018 we received the call that they had finalized their testing and were officially diagnosing Kennedy with Juvenile ALS.
Here is a description from the NIH website:
Juvenile amyotrophic lateral sclerosis (JALS) is a rare motor neuron disease characterized by progressive degeneration of upper and lower motor neurons. Motor neurons are nerve cells that control voluntary muscle activity. Symptoms of JALS typically begin before age 25, but often in early childhood. Symptoms include facial spasticity, dysarthria, and a spastic gait (manner of walking). Some people have uncontrolled laughter and weeping, mild wasting of the legs and hands, bladder dysfunction, and/or sensory disturbances. The disease is usually slowly progressive but rate of progression varies. People with JALS may become unable to move by age 12 to age 50.
In some cases this can be familial and passed down from the parents. However, Kennedy's mutation was not held by either of her parents. So we are learning as we go and following Kennedy's lead. The journey has involved physicians in 6 states. We do have primary insurance through her fathers employer. However, we have a 20% co insurance and there are numerous expenses not covered by health insurance. The money raised on this page will help provide for the care of Kennedy. We are greatful for any help you can offer.
Sincerely, Jennifer and Michael Arney