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The Layla Summers TECPR2 Research Fund supports the research efforts of Dr. Barry Byrne and the Powell Gene Therapy Center at the University of Florida into the rare and neurodegenerative genetic condition known as TECPR2. This fund is in honor of Layla, and all the other children around the world currently impacted by TECPR2. Donations to this fund go directly to Dr. Barry Byrne for his current research on TECPR2.

It was a journey just to find Layla’s diagnosis because TECPR2 is so rare. After a few years of searching and visiting many medical specialists, genome sequencing was finally able to reveal Layla’s diagnosis: TECPR2 related disorder, neuropathy subtype.  Layla’s condition most significantly impacts the neurons in her brain and is caused by a genetic mutation in her DNA code. Her mutated DNA code specifically interferes with her production of the protein tectonin beta-propeller-containing protein 2 (TECPR2). TECPR2 is a very important protein because it plays a key role in autophagy, which is the process of cells getting rid of cellular trash. Think of it as Layla’s cells need 100 garbage trucks to get rid of a cell’s waste. It has been estimated that Layla has the equivalent of 10 garbage trucks taking out the cellular trash, and it is common for those 10 trucks to get lost as well. When Layla’s neurons get too full of cellular trash, that can then trigger cell death, known as apoptosis. Early death of neurons is what leads to neurodegeneration.

To help give you a better understanding of how TECPR2 looks, here is some insight into what Layla faces on a daily basis. TECPR2 has completely consumed Layla’s, as well as our family’s, daily life. Due to having TECPR2, Layla struggles with simple tasks such as: eating (dysphasia), walking due to balance and motor planning challenging (ataxia), speaking (speech apraxia), sleep challenges (central sleep apnea), as well as sensory and interpersonal difficulties (Autism Spectrum Disorder due to a known genetic condition). Every day is full of one therapy or another, as well as frequent 1 to 1 time with Layla to help ensure she stays safe. Despite having the odds stacked against her, Layla perseveres with a smile on her face and heart-warming hugs for all! She is a warrior and it is amazing to see Layla fight so hard in all her therapies and continue to make gains. She is a wonderful big sister to two brothers, Liam and Callum, who love her to pieces. Everyone who meets Layla is pretty much guaranteed to have a love filled day because she has such an ability to connect with people. We will do anything to save our sweet but spicy Layla, and we are asking for whatever help any of you can give. Thank you so much for your time and all us TECPR2 families thank all of you for your generous donations! To follow Layla’s progress, find Team Layla on Facebook.