One Donation, Double the Good!
We have been working hard the past year, ever since Kevin, Angela, myself and my husband first met
at Boston Children's hospital. We've had several more equally adorable and sweet youngsters recieve a diagnosis of SPG47: Ethan (3yo), Wren (4yo), Sofia (6yo) and Susu (3yo). Their sweet faces are in the photo below and there stories can be found here
. Their parents are equally committed to finding a cure and have joined the fight. We are lucky to have them.
Every single donation made in the last year has contributed towards launching two promising research options towards stopping or treating the destructive course of SPG47
. From now until January 31st, 2018, total donations up to $100,000
are being matched by an anonymous Angel Donor!
Your generous donation will be worth double! Triple if your company matches- be sure to ask. WHY SO URGENT?
Degeneration typically begins between 3 to 5-years-old. Paraplegia or quadriplegia, and loss of speech gained, are expected by early teens. With successful treatment, these children would continue to get stronger and work towards independence. Without, they will gradually lose what they’ve worked so hard to attain. Robbie is 3-years-old and distressing signs that the disease is progressing are already presenting on her.
WHERE THE MONEY IS GOINGMimoun Azzouz
, PhD, Director of Research and Innovation at the University of Sheffield, England, is the principal investigator for our gene therapy research.
Darius Ebrahimi-Fakhari, MD
, in the Sahin lab at Boston Children’s Hospital is leading research using induced pluripotent stem cells (ipsc).
This ipsc study involves testing existing FDA approved drug compounds to see if they can positively influence the effects of the mutated gene responsible for this disease.
All donations are tax deductible and go to the Cure SPG47, a non-profit 501c3 (Tax ID: 81-4300824) who will make sure that 100% of the funds go to the research, safety trials, and regulatory affairs needed to get this treatment to children and young adults now with this diagnosis, as well as those who have yet-to-be diagnosed.Other ways to donate:
Or send checks payable to Cure SPG47
24R Pleasant St, Unit 2
Newburyport, MA 01950POSTIVE RESEARCH COULD IMPACT MANY OTHERS
We've now met several other children recently diagnosed with SPG47 and believe it is underdiagnosed. Initial assessment of Robbie’s first MRI led to a diagnosis of PVL (Periventricular leukomalacia
), brain damage often occurring prenatally or at birth. It took our neurologist’s shrewd eye to determine that the cause was likely genetic, spurring us to pursue genetic testing. With a clinical presentation in pediatrics patients remarkably similar to Cerebral Palsy’s spastic diplegia
form, there could be many more children with a misdiagnosis. Awareness is key!HOW YOU CAN HELP
We need your help to raise research funds. If we raise $100,000, it will be DOUBLED
by our Angel donor. This can make a significant impact in our preliminary proof-of-concept research, where any positive outcomes may lead to outside grant funding towards human clinical trials. We are calling on the generosity of family, friends, neighbors and strangers to help us #DoubletheGoodSPG47
With your help, we can reach this goal together and give these children a future that is as bright as their smile and as full as their laughter.
With so much gratefulness,
Kasey and Chris Edwards, Kevin and Angela Duffy, and all of the parents fighting beside us HOW YOU CAN HELP TODAY
1. Donate what you can; no amount too small and donations are tax deductible
2. Share on all social media with hashtag #DoubletheGoodSPG47
3. Email our GoFundMe and these steps to all contacts
4. Leverage any avenue you have to make this go viral (or send us leads/tips)
Learn more about SPG47 at http://www.curespg47.org
Follow Updates at https://www.facebook.com/Curespg47/
Learn more about the families at http://www.curespg47.org/our-story.php In the Press
The Boston Globe
Seattle Children's Hospital Blog
Inside Edition WCVB Ch. 5 News WPVI-TV Philadelphia Boston Children’s Hospital THRIVING Blog
Boston Children’s Hospital Science and Clinical Innovation Blog NBC Boston
A special thanks to The Jackson Lab in Bar Harbor, ME for donating their time, effort and money in funding a knock-out mouse model that will be essential in progress with gene therapy research.