Welcome! Ethan is our 7 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 of his life visiting various specialists without coming up with a concrete answer. When his exome testing was done, a MAPK8IP3 gene variant was flagged but as an unknown variant. We had the amazing opportunity to go through the Undiagnosed Diseases Network and were given more clarity there about the likelihood of a MAPK8IP3 gene variant being responsible for his symptoms. In 2019, when two research papers on the MAPK8IP3 gene variants in humans were published, the exome lab sent us paperwork that his gene had been changed to “pathogenic” and we finally had an official answer.
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 a laugh that is infectious and has a joyful disposition. His favorite things to do are to ride the school bus, play with vehicles, challenge his siblings to a round of MarioKart on the Wii, and read stories. He is just learning to read and it is exciting to watch him grow. He also enjoys taking walks outside with his walker and going on family vacations.
Ethan struggles the most with balance and coordination and this affects everything in his life. He is unable to walk independently without falling except for 6-8 steps. He is able to be mobile with a walker and we are training with a quad cane for short distances. He has apraxia of speech and struggles to make certain sounds or we will hear sounds/words that are then hard to repeat later. Fine motor tasks like writing and cutting with scissors are very hard as well. Ethan is in regular Physical Therapy, Occupational Therapy and Speech Therapy. He has made progress in all areas especially in the past few years. He also has some behaviors like the need for routine/structure, obsessions and poor attention to task that can be challenging as well. We recently found out he has central sleep apnea and he has been a champ at adjusting to a bipap at night.
We are blessed to have very supportive friends and family and our faith which has helped tremendously on our journey. One of the hardest parts for us as parents was not knowing what affected Ethan and how we could best help him. We, his school, and his therapists have been creative in coming up with solutions for the home and the community to help him be as independent as possible and include him in everyday life. Having Ethan has definitely motivated us to advocate more for rare disease and community inclusion. We are hopeful for current research underway to eventually find a medication or gene therapy option to help Ethan and others like him be more safer and independent. We are excited to see what possibilities the future holds for Ethan.
