“Our Lucky Leprechaun” by Ciara Luke
“Our Lucky Leprechaun” by Ciara Luke
Our little leprechaun, Preston, was born in 2014 on St. Patrick’s Day. He grew like most infants, right along the growth chart until about 9 months old when he fell from the chart significantly. He began to crave large amounts of water and would rarely drink formula. Because of his insatiable thirst and lack of weight gain, Preston was tested for diabetes, cystic fibrosis, and several other diseases; however, the tests would always come back normal and doctors would say Preston will eventually grow out of it.
On Memorial Day weekend of 2015, Preston began a downward spiral that was very concerning when we went out of town for a few days. While we were out of town, Preston would vomit every day at the exact same time. This pattern lasted for ten straight days, and ultimately led to Preston being admitted to the hospital. After being at the hospital for several days, we were told that Preston had a weird virus and that he would be better within a few days. Unfortunately, this was not the case!
During the next nine months, we were told by several different doctors that they didn’t have any answers as to why Preston wasn’t growing, had insatiable thirst, and was chronically vomiting nearly everyday. Furthermore, we saw a couple specialists that ran several different tests which of course came back negative. As most parents of children with rare and/or undiagnosed diseases will tell you, the testing process can be unbelievably stressful. Every test entails a different serious disease. And every negative result equals a sigh of relief but also a sense of frustration for not having answers. During one of Preston’s tests, Preston and I were sitting in a room waiting to go back for a brain MRI after he had already been through several tests earlier that day. At the time, Preston was just under two years old and was extremely exhausted. He had just fallen asleep in my arms when he heard a ball dribble in the hallway. His eyes shot open as he looked at me with a heart warming smile and said “ball”!
He knew the sound well because he already had a love of watching and playing basketball.
All of the sudden, Raul Neto, Zach Guthrie, and a cheerleader, all with the Utah Jazz, entered the room to say hi to Preston and give him a signed basketball! They truly made a long and tiring day so much better!
Our entire world changed in February of 2016 when we met Dr. Seamon at Primary Children’s Hospital. Within three weeks of our first appointment, we finally had answers, and a diagnosis. On February 22 all of our biggest fears became our reality, Preston has Cystinosis. “Cystinosis is an “orphan” disease with about 500 people -mostly children- stricken with the disease in the United States and approximately 2,000 worldwide. Cystinosis is a metabolic disease in which the amino acid cystine gets into the cells but has no transporter out. Because of the defect in transportation, the cell crystallizes causing early cell death. Cystinosis slowly destroys the organs in the body including the kidneys, liver, eyes, muscles and the brain.” – www.cystinosisresearch.org
In June of 2016, Preston had a g-tube placed to speed up the weight gain process. It was amazing to see how quickly Preston rebounded as soon as the g-tube was in place. We are thrilled that Preston’s body has been tolerating medications and that he has slowly started to gain weight. He has been my biggest hero throughout all of this. He doesn’t fight us with his medications, he always has a smile on his face, and he surprisingly has so much energy.
Preston was also diagnosed with Fanconi Syndrome which damages the renal tubules. Therefore, Preston is on a strenuous medication regimen which consists of 17 doses of different medications every day. All of these medications help keep Preston’s metabolic levels in check. He also takes a medication called Procysbi which slows the progression of Cystinosis but won’t stop or fix all of the associated problems.
Some of Preston’s challenges are behind us now; however, I know there will be many obstacles ahead of us. He is my strong and courageous super hero! He is my energetic, happy, basketball loving little guy! He continues to inspire me daily to be the best mom and person I can be. He has been blessed with an amazing big sister, Mikelle, that loves to take care of him and watch out for his well being!
Our support system has been the best there is, and because of this and his strength, any challenges we will face throughout Preston’s life can be overcome!
Preston and his sister, Mikelle, will both be on the court for as National Anthem Buddies with the Utah Jazz on March 17th!
To learn more about RUN’s NBA Initiative
Utah Jazz vs. Sacramento Kings
7:00 PM – Vivint Smart Phone Arena
Address: 301 S Temple, Salt Lake City, UT 84101
The Jazz will honor 30 rare and undiagnosed children as well as their siblings on the court as National Anthem Buddies! We will also have rare angels honored by their family members by holding their photographs. Alec Burks and Ricky Rubio have donated 100 tickets through the NBA Player Ticket Donation Program!
About RUN
RUN stands for Rare & Undiagnosed Network. We’re a group of advocates, patients, families, researchers, and healthcare providers who share the same mission and vision: To empower rare and undiagnosed patients and their families with genomic information and community through advocacy, networking and support.