June 03, 2016
BENEFITING: CURE SANFILIPPO FOUNDATION
FOLLOW KEIRA'S PROGRESS
Imagine that your first child is struggling every day to do tasks that any other 5 year old doesn’t have to even think twice about. Imagine that she cannot tell you when she is sick, what she did at school or even what she just ate for lunch. Then imagine that after years of trying to find out why you finally get an answer. Unfortunately it is not one that you or any parent should have to grapple with.
Our Geneticist informed us that our wonderful daughter Keira had a rare and terminal genetic disease that we never even heard of called Sanfilippo just 2 months ago and less than 3 weeks before our second daughter, Keaton, was born. We also learned that she would quickly degrade and lose abilities right before our eyes, would likely die prior to or during her early teens, and that there were no treatment options. Additionally our second daughter had a 25% (1 in 4) chance of having the same condition. Words cannot describe how devastated we were by this news, or how surreal it is to talk to your physician about palliative care for a 5 year old. After the diagnosis, we took Keira out for Fro Yo, which is her favorite, and just tried to enjoy her enthusiastic consumption. It really is the little things that you enjoy and will miss the most.
After all that, now imagine that we live in a world where no child has to suffer from Sanfilippo or any other rare disease. This WILL be the world we live in one day and we are going to take the steps NOW to help realize it. We hope and pray that we will make a difference that can impact Keira’s life, but even if we fail to do that in time, we do not ever want another family or child to have to suffer. That is why we have partnered with the Cure Sanfilippo Foundation and will work every day to make Keira’s life better and eradicate this disease for all children. We know there are many worthy causes in the world. If Keira’s story touches your heart, then please consider sharing this story and helping to find a cure by donating today right here on CrowdRise.
Our family and Keira thank you from the bottom of our hearts. Remember to cherish all the precious moments with your family!
WHAT IS SANFILIPPO?
Sanfilippo Syndrome inhibits the body’s ability to produce an enzyme which is critical to disposing of certain waste products that occur in the metabolism of a cell. Over time, these waste products build up and cause irreversible cell damage in every part of the body. Due to this buildup, the disease is considered degenerative and over the next year she is expected to lose all capacity for speech and have severe brain damage. Then she will lose the ability to walk, swallow, and ultimately the functioning of vital organs while in constant pain. This will happen with 100% certainty and no child has survived Sanfilippo. Keira will likely not survive beyond her mid-teens and there is currently no cure or even a proven treatment option to slow the condition. It is a parent’s worst nightmare and an unfair sentence for any innocent child. Time is the one thing Keira and other children like her do not have.
IS THERE HOPE?
Although this disease is rapidly damaging Keira’s brain and all the organs in her body, there is one thing that we know for sure about her – she will FIGHT this disease with every ounce of energy she has left. Therefore, we as parents of this precious little girl can do no less. We MUST stay ahead of the research so that there are more treatments, trials, and hopefully a CURE, not only for Keira but for the thousands of children afflicted with this horrible disease. There are promising areas of science in desperate need of funding, such as gene therapy, stem cell (non-embryonic), and chaperone therapies. Gene Therapy has shown to halt the disease in mouse models. Generous donations have helped this Gene Therapy research advance to the point of testing in clinical trials on children in early 2016.
WHERE DO DONATIONS GO?
We have partnered with the Cure Sanfilippo Foundation, a 501(c)3 nonprofit started by other Sanfilippo parents, for this urgent research. They have a talented Board & brilliant Scientific Advisors, all whom volunteer their time. The Cure Sanfilippo Foundation has no paid employees allowing net dollars to go directly to research for a cure. DONATE here on Crowdrise to help find a cure for Keira. All funds will go directly to the Foundation are tax deductible.
ARE THERE OTHER EDUCATIONAL RESOURCES?
If you would like to learn more about Sanfilippo Syndrome go to one of these links for more details on the disease:
To learn about the gene therapy technique which is on the horizon for human trials:
For more information on the Cure Sanfilippo Foundation or to mail in a donation:
If you will to make a donation via check* please mail to:
Cure Sanfilippo Foundation
PO Box 6901
Columbia, SC 29260
*If donating by check, please write “In Honor of Keira” in the memo line.