BENEFITING: TEAM SANFILIPPO FOUNDATION
ORGANIZER: TEAM SANFILIPPO FOUNDATION
I would like to introduce our precious snugglebug, Brea Alise. Brea is 4 years old and will turn 5 in just over a month. At age 3, she was diagnosed with a rare terminal disease called, Sanfilippo Syndrome Type A, also known as MPS IIIA.
Brea is the youngest of 5 children. She has been the greatest gift to our family and deeply touched the hearts of everyone who is a part of her life. Her laughter is contagious, and her smile will melt your heart. If you are lucky enough to receive a “warm hug” from her, it quite possibly is the best feeling in the world.
Even though Brea was born healthy, she had various health and delay struggles starting soon after birth. After much persistence that she wasn’t just a baby who needed to “cry it out”, the doctor finally referred us to a ENT doctor. By the time she was 15 months old she needed an adenoidectomy and ear tubes. We thought things would improve, but they didn’t. She needed a second set of ear tubes a few short months later and then the issues just kept piling up. After consistently hearing nothing was seriously medically wrong, we sought out a 3rd pediatrician. It was finally during that long appointment the doctor really studied Brea, and felt it was necessary to see a geneticist. It was during our 1st visit with the geneticist , we were told Brea appeared to have some sort of storage disorder. She told us that everything Brea has endured since birth has been telling a story. It was all starting to make sense now. We flooded the doctor with questions and concerns. We then would wait two weeks for the initial testing results from that day. We received the call that Brea most likely had, Sanfilippo Syndrome, but it couldn’t be confirmed until more tests were done. We were told the tests would take up to 8 weeks to get the results. I couldn’t help but research this horrific and devastating disease. I prayed they were wrong as I cried watching and reading what Brea might have to endure. Then just 1 ½ short weeks later, the dreaded phone call came, and yes, by phone… Brea tested positive for Sanfilippo Syndrome, and to make things worse, she is type A, the most severe form of the disease. Brea has been given a death sentence. She has been given 10-20 years to live. All within about a 15 minute phone call, all the hopes and dreams for our precious young daughter, faded before my eyes. Instead of being able to watch her grow up and go through all the stages of life, from making best friends, to taking dance classes, to going to prom and then college, and to being a mother herself. Those days and years are all replaced with struggling to keep her healthy and constant therapy several times a week to help her gain skills and then keep them for as long as possible before the disease takes them away.
What is Sanfilippo Syndrome? It is a rare genetic terminal disease. It occurs in every 1 out of 70,000 births. Both parents must carry the recessive gene to pass it down. If both parents are carriers, the children have a 25% chance of having the disease. Her body is lacking the necessary enzyme needed to break down and metabolize long chains of sugar molecules called, glycosaminoglycans. Since her body cannot break them down, they store in virtually every cell in her body. As the buildup continues, it eventually destroys the cell and over time will shut down her organs and central nervous system. Her immune system is compromised and will have difficulty fighting off infections. The years of pain suffering she will go through are heartbreaking to think about. The disease has already caused delays in all areas of her life and what she does have, she will lose. Typically, speaking is among the first things to go, along with the ability to walk and swallow. She will have joint pain as it affects her bones and joints and she will be faced with seizures and involuntary movements until the very end. Sanfilippo Syndrome acts somewhat similar to a child’s Alzheimer’s.
THERE IS SOME HOPE!!!
Researchers and doctors at Nationwide Children’s Hospital in Columbus, Ohio have made significant breakthroughs through gene therapy. It has shown promising results in animals and they are in the process of bringing it to human clinical trials. There are some obstacles though, main one being funding. Since this disease is so rare, it is difficult to get the necessary funding needed to move forward with the trial. It takes millions of dollars to make this possible. Parents have joined forces across the country to fundraise for the potential cure. If the money is there by the end of 2014, there is a chance it can start yet this year. They hope either by the end of this year, or by early 2015. This is Brea’s only hope to live a normal life. She doesn’t have time to wait years for another possible treatment or cure as it will be too late. We hope to help raise the necessary funds and that Brea will be selected to participate in this trial.
PLEASE, PLEASE, share our story and we appreciate anything you can contribute to save Brea, and all the other children affected with the devastating disease. All proceeds will go directly to fund the clinical trials. Join us in a virtual glass of purple lemonade to help save the lives of innocent children.
Life is very precious and unpredictable. The disease doesn’t discriminate. Everyone is at risk of a rare disease affecting someone they love. Let’s work together to stop this one and help all future families too!
Tricia and Andy Gates