Sunday, July 21, 2019

When a Shoe Family Loses Its Footing, They Take New and Bigger Steps

Rumination




If you’ve lived in Naples for any length of time, you’ve either heard of, shopped at or seen Snyderman’s Shoes of Naples on Tamiami Trail N., across the parking lot from the Outback Steak House. The owners, Becky and Jim Joyce have a reputation for being generous and helping others, like Laces of Love, a Naples non-profit that turns their monetary donations into shoe purchases for children in need in grades K-12 in Collier and Lee Counties. The Joyces and staff are adept at fitting feet of all ages into comfortable shoes.

On February 11, 2017, Ryan Patrick Joyce, their 18-year-old son, died unexpectantly during his senior year at Gulf Coast High School. Not many knew of his lifelong fight with a debilitating disease because he wanted it that way. A life cut short because of an illness that physicians are just beginning to understand.

“There were some oddities as Ryan was growing up. He had a very hard time learning how to ride a bike and we thought maybe boys have more trouble with coordination. Then we noticed when he was getting into the car after a day in kindergarten, he actually had to lift his own legs into the car. Warning bells went off loudly at that point,” Becky explained.

According to his mom, “Ryan didn’t want people to know he had a debilitating illness. A fear of ‘being different’ prompted him to hide his disability. He toughed it out, went to school, participated in several extra-curricular activities and was a member of the GCHS Solar–Powered Car Championship team as a Junior. He had a job at Paragon Movie Theater and planned to study engineering in college next fall.”

Excerpts from a letter that Ryan Patrick Joyce wrote in his senior year:

Growing up I was always physically tired and was never able to walk long distances. Living like this was tremendously difficult, but I always thought it was how everyone felt.

I would tell people, I have an energy-deficiency disorder, however it was much, much more. Some symptoms include weak muscles, slow natural growth, loss of muscle, inability to exercise, difficulty with mental concentration or delays. When I pushed the boundaries, it caused my body to react violently. My body starts to shut down, my lactic acid levels increase, which if not stopped, cause me to vomit everything in my stomach and cause my body to shut down and rest until it recovers. It made school challenging and life in general, difficult.

Because of the fear of being different and being unable to accomplish what every normal person could do, I chose to hide my disability from most people and tried to complete school without relying on my special needs. With this transition, I felt more independent and wore my condition as a badge of honor. (Ryan Patrick Joyce)

Deep River Chips has teamed up to provide information about mitochondrial disease and raise funding for research.

Mitochondrial disease is baffling to physicians and researchers because it’s so difficult to diagnose and treat. In Ryan’s case it took months to find a specialist in Atlanta who was able to identify mitochondrial disease symptoms. But first, Ryan had to endure blood tests, a spinal tap, MRI, a muscle biopsy, urine biochemistry, and wait eight weeks for DNA sequencing to be completed. And with the diagnosis, finally, there was startling information that there wasn’t enough expertise or experience to know how to treat it. Yes, there are individualized treatments called “Mito cocktails” full of vitamins, antioxidants, and supplements, but the treatment might be effective only for a short time and it would need to be recalculated and tried again. There is no cure, the patient’s care is just managed.

There are no medical protocols for this disease because no two persons affected have the same symptoms. (Read that shocking sentence again.) Plus, the disease can be present at birth or manifest later. Mitochondrial disease can be inherited from the mother’s DNA, DNA from both parents, or occur spontaneously as a result of being exposed to toxins, medications or other environmental triggers, and the symptoms can range from being minimal to being severe.

Most cells throughout the body contain mitochondria, which are responsible for creating 90% of our energy needed for organ functions. Without healthy mitochondria, organs start to fail which causes illness or death. It’s the variability of the disease that perplexes the medical community; each person’s manifestation is individual and unpredictable. It can affect the liver, muscles, digestive system, neurological system individually or together. A physician could treat a particular symptom that manifests at that time, but miss the big picture of mitochondrial disease. Hence, there is no reliable or consistent method of diagnosis or treatment and very few physicians who are specialists in this unusual disease.

Another reason mitochondrial disease is hard to diagnose is because children and adults often show several different symptoms caused by a defect in their body’s ability to effectively produce energy. One person may have seizures, another muscle pain, or slow mobility, nausea, lack of energy or several other symptoms. What does this mean? The focus of individualized treatment is to prepare each person so the effects of a future illness or emergency are lessened, like charging your body (battery) continually to increase mitochondrial efficiency and cellular energy production. This reserve energy and support helps to mitigate the health crisis.

To say I was stunned by this information is an understatement. How, in the 21st Century with all the accumulated medical expertise could this disease be so elusive?

“This is why the Joyce family is trying to bring awareness to others whose children or family members may be affected by this disease. It can be stealthy, as in Ryan’s case, and/or very complicated. We have teamed with Deep River Chips to present information about mitochondrial disease to help others and raise funding for further research, they are committed to educate as well as provide a great snack,” Becky explained.

Excerpts from the eulogy for Ryan Patrick Joyce given by Ryan’s cousin Thomas Joyce:

Ryan Patrick Joyce was, in every sense of the word, genuine.

He loved unconditionally.

He listened intently.

He learned brilliantly.

He lived fully.

If you are moved to help this cause, purchase Deep River Chips and send donations to the address on the back of the bag. For more information on mitochondrial disease, go to info@umdf.org (United Mitochondrial Disease Foundation).

 

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