Stories that inspire

The purest example of Mostyn’s character emerged in the spring of 2021. Mostyn’s parents were taking him to quite a few baseball games. He was so excited to be back in ballparks after the loosening of Covid-19 restrictions and had become pretty much obsessed with getting a game ball. Mostyn and his parents were at a game sitting about fifteen rows above the New York Yankee’s dugout. There was another little boy and his father at the end of the row. The boy was a young teen and Mostyn was nine. The boy was very sharp, and he knew most of the players’ names in Spanish and English. He collected four baseballs by running up and down the aisle and calling for a ball each time the players came off the field. Near the end of the game, the Yankees were returning to their dugout when their first baseman, Luke Voit, threw a ball towards Mostyn. His father caught the ball and handed it to Mostyn, as the crowd let out a nice applause. Mostyn hobbled down the row toward the boy and his father. They looked at Mostyn, but he did not say anything. Mostyn took the ball out of his glove and put it in the boy’s glove. The father told the boy, “No, you cannot keep that ball” so the boy handed it back to Mostyn. But, Mostyn put the ball back in the boy’s glove before turning and walking away. The crowd erupted with emotion and many people came up to meet Mostyn at the games thereafter.

On a good day, many people would not realize Mostyn has suffered thousands of seizures. He has been on extremely high doses of at least three anticonvulsants, exclusive of rescue medications, has had multiple reconstructive surgeries on his legs and feet, has learned to walk four times, and he has a feeding tube. On a tough day, Mostyn fights as hard as he can to stay alive. He convulses over and over, his oxygen level drops, he turns blue, chokes, vomits, wakes up with ringing in his ears, loses his coordination and his ability to walk, and he gets very scared. The rescue medications compound the side effects of his daily medications, despite additional medications to counterbalance them, which have even more side effects. The medications can suppress his blood pressure, heart rate, and his ability to breathe on his own. Even slight adjustments can have major impacts on Mostyn’s emotions.

Mostyn is an only child. His parents have been extremely dedicated to his wellbeing, even prior to his birth. During pregnancy, his mother was diligent with her diet, took prenatal vitamins, avoided alcohol and fish, and drank plenty of water. Mostyn was delivered naturally with no drugs, precisely on his due date. At birth, his parents opted for optional genetic testing that was offered to them. Everything seemed to be in order and Mostyn and his mother were discharged after spending just one night in the hospital.

Mostyn was a wonderful baby. He had a good appetite and an amazing personality. He was a little slow to start walking, but his pediatrician assured his parents that everything was fine and boys sometimes take longer than girls to start walking.

When Mostyn was three, it was clear he had some developmental delays. His parents took him to a neurologist who ordered an electroencephalogram (EEG) and a brain MRI. The EEG presented some abnormal activity, but neither the MRI nor the doctor yielded any further explanations. Mostyn presented signs of cerebral palsy, hypotonia, and dyspraxia.

By the age of four, he was already in over ten hours of therapy each week: occupational, speech, and physical. Despite this, his gait was abnormal, and his wrists were weak and floppy. Kids started calling him names and making fun of him, while adults said far more hurtful things. His parents tried many things to help him like massage therapy, electrical nerve stimulation, and kinetic tape but nothing seemed to work very well. Then, one day, his father came home with a baseball glove for him, and they started playing catch every day. Beyond strengthening his wrists, Mostyn fell in love with the game of baseball, and has been wearing a baseball glove every single day for over seven years now.

Even at the age of five, speech was difficult, but he worked very hard with speech therapists to expand his vocabulary to nearly one hundred words. He was able to walk, run, climb stairs, speak, swallow, eat and drink. Then, on New Year’s Eve in 2016, Mostyn suffered an extremely violent tonic clonic seizure that lasted several minutes. Within a few weeks, he was having over thirty tonic clonic seizures a day. Mostyn’s parents took him to an emergency room, and he was later transferred to the epilepsy floor. After a couple days, a doctor came to Mostyn’s room and informed his parents that he had Lennox Gastaut Syndrome. His father asked what that meant and what his life expectancy would be. In tears, the doctor left the room. By the time Mostyn was discharged from the hospital several days later, Mostyn could no longer stand on his own. He was having tonic clonic, absence, atonic and myoclonic seizures. His parents took him home, covered all of their windows, barricaded their front door, turned off all of the lights, televisions, radios and tried to avoid any sort of stimulation, but the seizures continued. Mostyn had multiple additional EEGs, another brain MRI and multiple genetic panels performed that provided no clear answers.

His parents continued to seek the underlying cause of Mostyn’s severe refractory epilepsy, rather than settle for treatment of his symptoms. They took Mostyn to Boston Children’s Hospital, where his new neurologists were able to identify the cause of Mostyn’s epilepsy and other neurologic symptoms – a unique de novo heterozygous mutation of a gene called KCNB1. Mostyn is currently the only known case in the world with his variant, making him nano-rare. There are currently no treatment options for Mostyn’s condition, and he continues to decline. However, Mostyn and his family hope and pray that, one day, an ASO can be discovered and developed just for him.