Emma

2022 Embracing Brave North Texas Recipient

Emma was a perfectly healthy and happy baby always on the move with such a huge heart, big smile, and lots of sass! As Emma turned 3, not only was her speech not improving, but it was drastically declining, and rage and behavioral outbursts were occurring out of nowhere…. that were completely unlike our Emma. She even began to become distant with her classmates at preschool, and her listening completely disappeared. She would throw her self down and scream, and the disconnect was clear that something wasn’t right. We did what any parent would do, and went from doctor to doctor to search for answers as to what was going on in our child. For a few months, she was speculated a misdiagnosis of Pans or Pandas. Not too long after that, at 3.5 years old she had her first focal seizure in the car on the way to school on April 21, 2021 which led to genetic testing. Time flew by very fast from here on. It was simply 3 weeks later that Cooks called us and gave us her genetic testing results and a shockingly devastating diagnosis. Our lives forever changed on that day May 12, 2021. Emma was diagnosed with a rare form of Batten Disease, CLN2. A very complex and fatal neurodegenerative disease that robs children of their cognitive abilities, motor functions, and eventually, their life. 

Batten Disease, or Neuronal Ceroid Lipofuscinosis (NCL), is a family of rare diseases caused primary by autosomal recessive genetic mutations. These mutations disrupt the cells ability to dispose of wastes. Cells are thrown out of balance with the build up of proteins and lipids. There are 13 known forms, CLN1-CLN14 (there is not a CLN9). The affected child will usually begin showing symptoms such as seizures, followed by ataxia, blindness, cognitive decline, dementia, loss of motor skills, behavioral changes, myoclonus and etc. Children typically have a shortened life span and don’t make it past 12 years of age. 

 On June 21, 2021 Emma was rolled away from us at Children’s Hospital in Dallas for her first brain surgery where her Neurosurgeon placed a port inside the 3rd ventricle of her frontal lobe of her brain. This port is where she receives her brain juice, as we like to call it, which is an enzyme replacement therapy that helps to treat only CLN2 patients. Emma began her treatments on July 5, 2021. In a CLN2 patient their brain has a tripeptidyl peptidase 1 (TPP1) deficiency, thus her cells don’t have the ability to clean up the garbage they come in contact with. The infusions have been proven to slow the overall loss and halt the progression of the disease, so far, but we still don’t know how much time we have with Emma. For the rest of her life she will receive these invasive infusions every 2 weeks of her life. We do not know the long term results or the outcome, but we do know that it isn’t a cure. The enzyme therapy is called Brineura and it has only been out for about 5 years. We kindly ask that you continue to follow Emma’s journey with batten disease as we bare these burdens and continue to carry the hope. Various gene therapies are underway, but they aren’t moving fast enough, and time isn’t on our children’s side. We are praying for better treatment alternatives for Batten Disease, and to hopefully one day land a cure to this terminal disease! Help us carry the hope for Emma! Thank you from the bottom of our hearts for your love, support, and encouraging thoughts as we head down this road with batten disease CLN2 in our precious daughter. #lovetoemma 

Emma’s family is hoping to use funds to help pay off medical bills that have accumulated throughout her diagnosis. - 2022

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