My Story: Emma Grace "The Boss"

In May of 2017, Emma Grace was diagnosed with Surf1 Leigh Syndrome and has proven to be a fighter. When she was born all the doctors and nurses in the NICU called her "The Boss" and she has lived up to this name.

In September of 2015, God blessed us with our second beautiful baby girl. She had some complications at birth, but after we brought her home she appeared to be healthy and was meeting all her developmental milestones. We first noticed a problem when we tried to introduce baby foods around six months of age and she refused to eat anything. We did everything in our power to try to get her to eat including months of feeding therapy. She was not gaining weight or growing well, but the doctors always attributed that to her poor intake. She had low muscle tone and started taking steps around 15 months but didn't walk until 19 months. Despite all our efforts at trying to get her to eat, she ended up having surgery for a Gtube placement. We thought the Gtube was the answer to our prayers because once she started getting the proper nutrition, she started to get stronger and have more energy. Then in May of 2017 came the shocking and soul-crushing diagnosis of Surf1 Leigh Syndrome that has knocked us to our knees. The physicians told us to take her home and enjoy her because there was nothing that could be done. No treatment, no cure, no clinical trials, nothing!

This diagnosis has been very difficult to accept partly because Emma is currently doing so well and continues to make wonderful progress. She says hundreds of words and speaks in full sentences, she’s getting stronger, her walking has improved, and she’s even making some progress with eating. Despite this, the harsh reality is that we are in a race against time. Any stressors such as illness, fasting, anesthesia could have devastating consequences and lead to severe metabolic decompensation. She is at risk for regression and could lose the ability to walk, talk, eat, swallow, and even breathe on her own. At any moment this disease could steal everything from her and from us and there is nothing we can do. This has been the hardest part to accept and is such an indescribably helpless and hopeless feeling.

However, we truly believe she is going to defy the odds and be our little miracle. This has been a shocking and devastating diagnosis for our family. At the same time, it has given us a new perspective on life. Emma has been our greatest teacher. She has taught us to put all our trust in God and cherish each precious moment with our loved ones. Emma has proven to be a fighter ever since the day she came into this world. When she was born all the doctors and nurses in the NICU called her "The Boss" and she has lived up to this name. She loves to boss everyone around and she even refers to herself as "The Boss". One morning she awoke and rolled over and said "Emma Boss here"! She is wise beyond her years and loves her life. Her smile lights up the room and her giggle is contagious. Everyone who meets her falls instantly in love with her. Emma idolizes her big sister Riley and they share such special bond. There are many times I look over to catch them hugging and holding each other and it warms my heart, yet crushes it at the same time. Emma is truly an angel and we are so proud to be her parents. Emma and Riley are our whole world and we will go to the ends of the earth for them. We will do everything in our power to give them the life they deserve, one that is filled with love, laughter and happiness.

We will continue to fight this disease with all of our power, not only for Emma, but for all those suffering from mitochondrial disease. We are excited to announce that finally there is HOPE! UT Southwestern will soon begin a SURF1 Gene Therapy Research Project. We invite you to join our team in this fight and help us turn HOPE into ACTION.

Please EMBRACE our EMMA GRACE with your continued love, support and prayers.


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