Who advocates like a Mother? No one! In honor of Moms and especially those living with Pompe Disease either themselves or by raising children with this rare genetic disorder, we invite you to hit the pavement and walk or run a 5K (3 miles and some change) to raise money for Gabriel’s Gale.
GABRIEL’S GALE – MISSION STATEMENT:
Gabriel’s Gale is a nonprofit organization with the goals of funding research for breakthrough medications for people living with Pompe disease in order to make the current treatment more convenient and more affordable as to improve the length and quality of lives for people living with this disease and their caretakers, pushing all 50 states to include Pompe in newborn screenings, providing Pompe patients some financial help to handle their medical expenses and educating the public and creating a national awareness of the disease.
Among the many emotions we felt as Gabriel was being diagnosed (a weeks-long process) was loneliness. Our doctors and genetic counselors were amazing. But, we kept circling back to the question: “Where do we go to find people like us? People who have been here before? People who can tell us it will be OK? People who speak this new language we’re learning?” It felt like being in a foreign country we’d never heard of with no idea how to speak the language enough to even ask for a map to help us navigate!
Our goal with this organization is to help fund the good work being done for Pompe at places such as Duke University. While there is no cure, we would like to see the Enzyme Replacement Therapy become more tangible. Some people have to drive hours on infusion days every other week, costing time and money. It is our dream that – someday – ERT could be administered through a pump just like insulin is to many diabetics today. We would also like to see treatment – Enzyme Replacement Therapy – become more affordable. Right now, we understand no one is turned away. That said, we don’t know how long that will be the case and at a cost north of $300,000 a year it is daunting to think it may not be available to everyone in the future.
Overall, one of the things we want Gabriel’s Gale to be is that place. That place we didn’t have when we got our diagnosis. That place where you find your Pompe family. That place where you learn what is being done to treat Pompe. That place you go when you want to do something to help because you feel so helpless. That place where others have been where you are now.
"Adults living with late onset Pompe disease can be very different than children with the infant onset type of Pompe. It's often an "invisible" illness and you can go years being misdiagnosed with more common ailments."
"Each day brings new worries and fears but also it brings joy and peace, if you know where to look for it. Our “normal” is like nothing you’ve seen before but it’s ours and we cherish it! Our prayer is always for a cure but how thankful we are for the current options and the community we have so no one fights this battle alone. "
"As long as Sophia wakes up happy then we should be happy too and save the worrying for when it’s really necessary. Though Pompe has changed the definition of what it means to be “normal” for us, it has helped us to grow stronger as a family and to appreciate the little things in life so much more than before."
"We are so beyond thankful that of all the rare diseases to be diagnosed with, it is one with a treatment (and a “late onset" type at that) and for newborn screening, because I know SO many aren’t as lucky. And with the current happenings in the rare disease world we have so much hope for his future. "