Welcome to our CaringBridge site. It has been created to keep friends and family updated on Emma Rose.
I started this site to share Emma's story of her struggle with infantile spasms and partial focal seizures and now, a repaired malrotated bowel, complex III mitochondrial deficiency, and STXBP1 gene mutation. Emma's variant of this mutation is the only one like it to date. Not much is known about how this specific gene impacts the brain and body and it is an area of focus in research right now.
Be sure to read the latest in the journal, view the photo gallery, and drop us a line in the guestbook. My name is Emma Rose. I was born in August 2008 into a wonderful family. I started having seizures soon after my birth. My family was told I just had hard to control epilepsy or cryptogenic seizures and that we would never have any answers. We went to another hospital and doctor when I was 2 months old and were told the same thing there. Then when I was almost 3 months old, we went to a third hospital and doctor in Memphis, TN where I was diagnosed with infantile spasms and partial focal seizures. I started a 6-week-long course of ACTH steroid injections. The infantile spasms went away and my family thought I was seizure-free. Throughout my 10 years of life, the seizures have been a constant foe. I have had many hospitalizations as a result of them returning with a vengeance. I have tried many medications, but they usually only work for a short time. We are still trying to figure out why I lost most of my muscle tone in December of 2008 and the ability to drink in 2010. I have lots of family and friends who love me and support me and my family.
In December 2013, we got our Christmas present a little early. We finally know the gene mutation responsible for my health issues and are now on a search for a treatment/cure! Emma participated in a research study published by Neurology that highlights the main clinical presentations seen with STXBP1 gene mutations. We continue to look for ways to help further research in this area and hold onto the hope of there being a cure or treatment someday. For more info, visit http://stxdisorders.org/.