Welcome! Ethan is our 13-year-old son and we live in the United States. We didn’t realize that anything was different about Ethan after he was born until he was about 6 months old, when he couldn’t roll or sit up by himself.
We spent the next three years visiting various specialists without finding a concrete answer. When his exome testing was done, a MAPK8IP3 gene variant was flagged as an unknown variant. We had the amazing opportunity to go through the Undiagnosed Diseases Network, which gave us more clarity about the likelihood of a MAPK8IP3 gene variant being responsible for his symptoms.
In 2019, when two research papers on MAPK8IP3 gene variants in humans were published, the exome lab sent us paperwork confirming that his gene had been changed to “pathogenic,” and we finally had an official answer.
Ethan’s Story
Ethan loves being part of the group. He wants to do everything his brothers and sister do and has the biggest smile when he is with his friends. He has an infectious laugh and a joyful disposition. His favorite things include watching NFL football, challenging his siblings to videogames, going minigolfing, swimming, listening to music, and reading stories. He is has dyslexia but can read at a second grade reading level. He also enjoys walks outside with his walker and family vacations, especially to the beach and mountains.
Ethan struggles most with balance and coordination, which affects many parts of his life. He is mobile with a walker in the community, and he can walk around his home without a device. He has apraxia of speech and struggles to make certain sounds, like "l" or "th." Fine motor tasks like cutting with scissors are also difficult. Ethan receives regular physical, occupational, and speech therapy and has made progress in all areas. He also benefits from routine and structure, as attention and behavior can be challenging. He has central sleep apnea, and he has been a champ at adjusting to BiPAP at night.
We are blessed with supportive friends, family, and faith. His school and therapists help us create solutions that support independence and inclusion. Ethan's sense of humor keeps us laughing! Having Ethan has motivated us to advocate for rare disease awareness and community inclusion. We are excited to see what possibilities the future holds.