Fiona Hope for a Cure of GM1 Disease
In one phone call our hopes, plans, and dreams changed forever. Our beautiful 7 week old daughter, our only child, was diagnosed with a terminal rare genetic and degenerative disease called GM1 Gangliosidosis, Type 1, for which there is no cure and little scientific knowledge. We decided to make our home a place of comfort, love, and a place of JOY for our sweet girl for whatever time we had left with her. We knew her life would be a short life, but we wanted it to be a happy life! We were convinced we had only a few months left with our little girl, but in spite of her continuous deterioration, Fiona has beaten some of the odds and will turn 4 years old on June 8. She’s physically fragile but a fighter and she fights every single day.
Please explore our site and read Fiona’s entire journey at www.hope4fiona.org
Children with GM1-Gangliosidosis are born without a vital enzyme called beta-galactosidase, that breaks down byproducts of cellular metabolism called lipids. Because the enzyme is missing, the lipids build up and become toxic to a child’s cells, particularly cells in the nervous system. Nerve cells in the brain and spinal cord are gradually destroyed, which in turn robs a child of their ability to walk, sit, stand, eat , swallow, see, hear, and eventually breathe. In most cases, children contract pneumonia by the age of 2 and do not survive. This disease affects both genders, all races, all countries and continents. We want to spread awareness and find a cure!
Fiona is participating in a pharmacological trial at the University of Minnesota. The treatment regimen includes the FDA approved drug Miglustat. Miglustat catalyzes many chemical reactions in the body and it theoretically prevents the formation of GM1 Ganglioside - the specific lipid building up in Fiona’s cells. If Fiona had some residual level of enzyme (beta galactosidase) in her cells and we were able to prevent the formation of GM1 Ganglioside, theoretically we could stop the progression of her disease. We think this is how Fiona has “beaten the odds” and lived to 47 months of age; however, extensive, irreversible neurological damage still occurred.
There is promising research being done at Auburn University in Alabama headed by Dr. Douglas Martin; however, funds for the trials are lacking and need financial support. The folks at Auburn have contributed tirelessly to this effort and have paved the way for Gene Therapy. Gene Therapy carries the hope of repairing the genetic mutation present in these kids so that their bodies create the missing enzyme the way they’re supposed to. We are grateful for what they have accomplished thus far and want to help fund the research. Please consider supporting the Auburn University research and our daughter Fiona and all children with GM-1. We are so hopeful for a cure! This is our chance to find a cure for all GM-1 children and save their lives. Learn more about the research here: http://www.vetmed.auburn.edu/srrc/#.VOPH5NTnbmh
Hope4Fiona’s mission is to learn more about this disease and to fund a cure for GM1-Gangliosidosis as soon as possible to prevent future children and family to go through what we have. So, the goal is simple: to find a cure for this disease! We will do this by directing ALL fundraising dollars into the hands of lab researches, companies, or other organizations that are determined to find a cure and to Fiona Kindness Box Project. I started Fiona Kindness Box Project as way to pay forward for all of the kindness and generosity that was shown to our family. What began as a family project has grown into something beautiful and amazing! Our namesake, Fiona is the inspiration for starting this project. Our journey has taught us that so many children need love, support, encouragement, prayers, and little happiness when they are in the hospital or fighting at home.
Fiona Kindness Box Project send boxes full of “happiness” to those who need a smile-children with rare diseases like Fiona for there is no cure, GM-1, Tay Sachs, Canavan, Sandoffs, Cancer, Leukemia, Cerebral Palsy, Seizures, Mitochondrial Disease, Neurological Disorders, Babies in NICU, Surgery and Heart Transplant Patients, etc. We are excited to be a small part of spreading Fiona Kindness Box Project one box at a time. Please contact me if you like to sponsor a box. It’s about what we can do for others. So my greatest hope for this project is that you might take way some inspiration, thought, or idea that moves you…to either just smile or to take some action on your own.
Act of kindness help restore faith in humanity-the more you give, the more you will receive, and it can even cause a chain-reaction of kindness!
Hope4 Fiona.org will raise funds one dollar at a time, by organizing and fundraising. Please donate via GOFUNDME or through the mail. ALL dollars will go directly towards research for a cure and Fiona Kindness Box Project. We will send the hope4fiona wristband to all our donors if they like.
We will continue to work tirelessly to raise awareness of this disease, and support and educate families as they deal with the devastating diagnosis that GM1- Gangliosidosis can bring, until we find a cure.
Together, We CAN Make a Difference
Fiona today and her Future
Fiona is stable as she continues to fight GM1-Gangliosidosis and its complications each day. We feel blessed that she is still here for us to love and care for. Fiona is now 47 months old. She was never supposed to reach 24. Fiona is in a very fragile and delicate condition requiring constant monitoring, assessment, and interventions. She requires a “mini ICU” in the house along with a germ free environment to keep beating the odds. My husband and I are the only people who care for Fiona at this time. It is a labor of love and we are often exhausted, but we are blessed to have her here with us.
We still don’t know how long we have with her, but honestly, we don’t know what lies in any of our futures. Instead of focusing on all the things that GM1 has taken away from Fiona, we have chosen to celebrate Fiona’s life. No matter how short her life will be, we have witnessed that it has been a life of value and meaning. She has taught us so many things, mostly importantly, that life is precious.
We have learned that having hope makes us stronger. Hope for a cure. Hope for a good day. Hope in helping others with GM1-Gangliosidosis. With your help, our HOPE is to find a CURE for all children with GM1 Gangliosidosis.