We always knew that Emma was special. We just didn't know that she was this special.
Emma came into the world with a bang. She's the only girl and the youngest. With 4 older brothers, her parents prayed for a baby girl. April of 2017, she was born five weeks early. After spending 2 weeks in the NICU, she came home and was utterly loved.
Things weren't easy for Emma. She lacked muscle tone, which made movement hard for her. She was late to crawl, walk, and even stopped sucking on sippy cups or straws for almost a year and a half. Her parents were concerned, but she always managed to figure things out.
February of 2022, after test after test, we received the news. Emma was born with a rare genetic disorder called MED13L syndrome. It is a recently discovered genetic disorder and there is only a few hundred known cases in the world. Every person is born with 2 MED13L genes. 1 from mom and 1 from dad. In those with MED13L syndrome, one of those genes is not working, and therefore, those genes are only producing half the amount of protein that a body needs. Their afflictions are low muscle tone, intellectual disabilities, speech impairment, seizures, and heart defects.
The MED13L foundation is currently working with a team of scientists to find a cure for MED13L syndrome. For now, that looks like a repurposed drug that can help with the missing protein that those with MED13L are afflicted with.
Emma speaks very few words. She's never once said her brother's names or even "I love you" (although she is an extremely affectionate girl and shows her love through kisses and hugs.)
Any and all donations would be greatly appreciated. We want her to have a full and happy life and for future families to have answers and remidies when they receive the life-altering news.