KCNB1 LENNOX GASTAUT SYNDROME GRATEFUL FOR N-LOREM FOUNDATION
MOSTYN Nano-Rare Relentless Fighter Miracle in Progress Revelation 4:11
About Mostyn
Mostyn is our most precious blessing. He is currently the only known case in the world with his particular variant on a gene called KCNB1, making him nano-rare. There is currently no cure for Mostyn's condition and he is declining, but a team of extremely talented and kind scientists at n-Lorem is now working to develop a treatment just for Mostyn.
Mostyn has suffered thousands of seizures, despite being on multiple combinations of 17 anticonvulsants. He has endured multiple reconstructive surgeries on his legs and feet, has learned to walk four times, and he now relies on a feeding tube for nourishment.
Mostyn was delivered naturally with no drugs, precisely on his due date. He was a wonderful baby with a good appetite and an amazing personality. He was a little slow to start walking, but his pediatrician assured us everything was fine and told us boys sometimes take longer than girls to start walking.. When Mostyn was three, it was clear he had some developmental delays. We took him to a neurologist who ordered an electroencephalogram (EEG) and a brain MRI. The EEG presented so
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. We tried many things to help him like massage therapy, electrical nerve stimulation, and kinetic tape but nothing seemed to work very well. Then, we gave him a baseball glove and started playing catch every day. Beyond strengthening his wrists, Mostyn fell in love with the game of baseball, and he has been wearing a baseball glove every single day for over eight years now.
Even at the age of five, speech was difficult, but he worked very hard with his 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, Mostyn was having over thirty tonic clonic seizures a day. We brought Mostyn to an emergency room, where he was admitted and transferred to the epilepsy floor. After a couple days, a doctor came to Mostyn’s room and informed us Mostyn had Lennox Gastaut Syndrome. I asked what that meant and what it meant for his life expectancy. In tears, the doctor left the room without answering the question. 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. We brought him home, covered all of our windows, barricaded the 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 that provided no clear answers.
We continued to seek the underlying cause of Mostyn’s severe refractory epilepsy, rather than settle for treatment of his symptoms. We were extremely blessed to take Mostyn to Boston Children’s Hospital, where his new neurologists were able to identify the cause of his epilepsy and other neurologic symptoms – a unique de novo heterozygous mutation of a gene called KCNB1.
cool stuff you cannot make up
Mostyn is headed to New York!
Over the past eight years, we have been extremely blessed to take Mostyn to Boston Children's Hospital for excellent care. During that time, we used the game of baseball to keep Mostyn happy and motivated to keep fighting. Mostyn has spent a great deal of time at BCH and a great deal of time at the magical Fenway Park.
In late October of 2023, Mostyn became a patient at Columbia in New York where we hope Mostyn will begin receiving ASO treatments in 2024. About a month after Mostyn became a patient at Columbia UMC, Mostyn’s favorite player was traded from the Boston Red Sox to the New York Yankees.
Alex Verdugo has been about as kind to Mostyn, as Mostyn is rare.
In May of 2022, Alex came off the field to meet Mostyn before a game at the Trop and he gave Mostyn a signed baseball bat. Thereafter, when we attended games in Boston, Alex would often take the time to say hello and encourage Mostyn.
In September of 2022, Alex was on deck in the first inning of a game between the Red Sox and the Rays. He noticed Mostyn, who was appropriately wearing his Verdugo jersey and his 99-chain. Alex walked up with a huge Dugie smile and delivered an enthusiastic, “hey, Mostyn!” accompanied by a handshake through the netting. Then, he proceeded to smash a home run over the right field wall. After circling third base, he pointed straight to Mostyn. We are quite certain, he hit an on-demand home run for Mostyn. Before heading to the dugout, Alex ran to Mostyn and gave him a fist bump.
In July of 2023 Mostyn attended Alex’s Pro Camp. Mostyn was in his wheelchair most of the day, but Alex spent time with him just as he did with the neurotypical campers. Mostyn had a three-minute tonic clonic seizure on the field and he was unable to throw a baseball. What did Alex do? He walked all the way to Mostyn for the handoff and congratulated him after.
In September of 2023, the Red Sox allowed Mostyn to have the honor of throwing out the ceremonial first pitch at Fenway Park. Mostyn had been discharged from a hospital just two days prior. He really struggled to throw the pitch, but with a great deal of support from the fans he eventually let it fly. Alex immediately ran onto the field to congratulate him and give him a hug. What could be more amazing?
More amazing: Mostyn being accepted as a patient by n-Lorem Foundation. Their work could one day prevent Mostyn from declining so he can once again make forward progress. n-Lorem is working on developing a genetic treatment for Mostyn called an ASO – antisense oligonucleotide gene therapy.
If things go according to plan, Mostyn will spend a lot of time receiving treatments at Columbia University Irving Medical Center in New York and a lot of time at Yankee Stadium watching his favorite player.
Mostyn Learning to Walk Again
JAY and his team at Hollywood Studios
JAY and his team at Hollywood Studios
JAY and his team at Hollywood Studios
Jay and his team managed Mostyn's favorite show at Hollywood Studios - The March of the First Order. They allowed Mostyn to wear a storm trooper uniform and actually March through the park in the show with the storm troopers. Initially, Mostyn could only march for a short distance. Over time, he was able to March through the entire show and his gait improved by mimicking the storm troopers. Mostyn easily marched with them over fifty times. This was so impactful to his ability to walk again.
Marching with the Storm Troopers
JAY and his team at Hollywood Studios
JAY and his team at Hollywood Studios
Mostyn had to learn how to walk FOUR TIMES, due to extended hospitalization for seizures and two reconstructive surgeries. Beyond considerable muscle atrophy, he was further challenged by hypotonia and mixed cerebral palsy. Initially, Mostyn was not very eager to depart from his wheelchair. Mostyn needed some motivation and he received it in perfect timing from Jay's team and the Storm Troopers at Hollywood Studios. Eventually, we could barely keep him in his chair and he would scream with joy and excitement each time the show started. Jay was a very special man and the impact of his kindness cannot be overemphasized.
Mostyn will march with you again one day, Jay. RIP.
Mostyn's Character
Mostyn loves the Lord and he loves to worship. Mostyn also loves people. He will often walk right up to someone in distress or reach out from his stroller to give an unsolicited and heartfelt hug.
The purest example of Mostyn’s character emerged in the spring of 2021. Mostyn was at a spring training game at GMS Field. We were sitting about fifteen rows above the New York Yankee’s dugout. There was another young 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. I caught the ball and handed it to Mostyn. The crowd seemed to be very happy for Mostyn and they let out a nice applause. Rather than sit down with his ball, Mostyn quietly 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 placed it in the older boy’s glove. The father told the boy, “No, you cannot keep that ball” so the boy handed it back to Mostyn. . But, Mostyn again placed the ball in the boy’s glove before turning and walking away. The crowd erupted with emotion. Many people came up to meet Mostyn at the games thereafter.