Blessings for Baby Borja!

Emma's Story:

Emmalynn Marie Borja was born on 7/21/2022. 8 lbs 11 ounces. The pediatrician gave her the all clear. Our prayers were answered - a perfect healthy baby! Little did we know, our delight would turn to devastation far too soon. At 3 weeks, Emma started having seizures. We spent four grueling days in the hospital, watching our little baby endure too many pokes, searching for answers. All of her blood work was normal, spinal tap normal, MRI normal. We left the hospital confused without an answer as to the cause of her seizures, but hopeful as the doctors reassured us she looked healthy. They said sometimes babies just have seizures and grow out of them. Or maybe she does have epilepsy - many people with epilepsy live healthy lives. Unfortunately, that wasn't the case. At two months old, we received Emma's genetic testing results on October 7th, STXBP1 Encephalopathy. The doctors told us what no parent wants to hear - that our baby girl will likely have intellectual and motor delays. The more I researched the disorder, the more devasted I felt. More than 90% of children will not acquire expressive language and independent walking is achieved in less than half of children with STXBP1-related disorders (Rare Disease Database). After a few weeks of depression and feeling hopeless, I realized I have to fight for her and do everything I can to give her the best chance possible. I dove into researching ways to help, such as the best treatment clinics in the world, cutting edge physical therapy centers, and natural therapies such as acupuncture. The key message from all my research - early intervention is key! We have to work on problems before they begin. For instance, many babies with STXBP1 have trouble sitting independently at 4 months. Knowing this, we can work with a PT to build Emma's core strength to encourage sitting before it becomes a delay. We have many plans to help our baby girl (read more below)! For now, I've stopped dwelling on the what-ifs (What if my baby can't walk/tallk?) and am living in the moment, enjoying every moment with baby Emma and loving her little smiles and laughs! Emma is currently physically healthy, her seizures are well controlled, and she has met all of her developmental milestones so far. Your donations and prayers will help ensure that she continues to be successful!

About STXBP1:

STXBP1 is a rare genetic disorder characterized by abnormal brain function (encephalopathy), seizures, and intellectual disability. There are only 750 cases world wide! Treatments involve treating the symptoms as there is currently no cure. However, hope is on the horizon for individuals with STXBP1 as a cure & gene therapies are currently in the works. Watch this video to learn more about STXBP1!

The Gameplan & Est. Expenses: