KCNB1 LENNOX GASTAUT SYNDROME GRATEFUL FOR N-LOREM FOUNDATION
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 scientists at n-Lorem is working to develop an antisense oligonucleotide treatment specifically for Mostyn's variant.
Mostyn has suffered thousands of seizures, despite being on multiple combinations of 17 anticonvulsants. He has endured multiple reconstructive surgeries, 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, which presented no clear answers.
By the age of four, Mostyn was already in over ten hours of therapy each week: occupational, speech, and physical. Even so, 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 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. Mostyn's wrists became much stronger and he fell in love with the game of baseball. Mostyn has been wearing a glove everyday for over nine 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.