Emma
Emma Rose arrived August 26th, 2008. There was no reason to expect problems, and there weren't any until she had her first seizure 30 minutes after birth. The next 5 years, we traveled to other states and the best known hospitals looking for a diagnosis. Emma was 5 before we were told she had a never-before-seen variant of a mutation in the STXBP1 gene. They could not give us much information as the gene was fairly new to the medical and research worlds. We knew it meant seizures and lots of them, but other than that, it has been a roller coaster ride of discovery for all of us.
Emma has always been a happy, sweet child. She rarely complains and loves to smile and laugh. She enjoys music, people, animals, and being outside. One of her favorite things to do is go outside at night and look for the moon and stars and have me sing "Twinkle, Twinkle Little Star." She also really likes spiders and looks at me to sing "Itsy Bitsy Spider" when she sees one on the wall. She adores her big brothers and getting on the bus to go to school each morning.
Emma has been a kind of teacher since she entered our lives. She has taught us what is important and what is okay to let go of. She has taught us love and kindness. She has taught her teachers and classmates acceptance, creativity, and patience. She has taught every person who has crossed her path joy and how to appreciate every day and the special moments found in each one. Since her diagnosis, she has participated in a number of research studies and through them, will hopefully help teach the medical community about STXBP1.
~Jennifer, Emma’s Mom
STXBP1 Gene Mutation
STXBP1 (Syntaxin Binding Protein 1) is a binding protein that is used in the synaptic nerves of the brain. It helps make the connections between the nerves in the brain. Individuals who have a mutation of this gene will usually start having seizures in vitro or shortly after birth. As they grow, they will show signs of developmental delays with their motor skills and speech.
Artist: Lawrence Gardinier
