Research for Robbie
Tax deductible
Robbie’s smile comes easily, and often, despite having Hereditary Spastic Paraplegia type 47 (SPG47) , a slowly progressive neuro-degenerative disorder.
She smiles, with very few words to actually say why. She smiles with other children and at other children, though she can’t quite keep up with them. We live for her smile. Her positivity is unwavering, but her future is insecure.
Of the few people followed with SPG47, the reports reflected non-verbal, severely intellectually disabled paraplegic or quadriplegic teens and young adults, life expectancy unknown due to the rarity. These children work incredibly hard to achieve milestones, and then gradually lose them by their teens. In this, slowly progressive is a GOOD thing. The worst is yet to come. The next few years are crucial. And so, we fight.
Working with the Duffy family, whose daughter Molly is also affected, we formed Cure SPG47 and we brought some of the greatest minds in the fields of neurological disorders, gene therapy, cell biology and translational neuroscience together to help come up with the most promising research to study.
Now, we have two research projects started and can allow ourselves some hope. Hope that we can fully fund successful research and hope that we can do it in time to stop or slow down progression for Robbie. We’ve started gene therapy through Prof. Mimoun Azzouz at the University of Sheffield, England, and induced pluripotent stem cell (ipsc) research for off-label FDA approved drug use through the Sahin Lab at Boston Children’s Hospital.
WHERE THE MONEY IS GOING
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 Robbie, the handful of other young children now with this diagnosis, and those that have yet-to-be diagnosed.
OUR STORY
When we first heard of SPG47, the only record we had of those affected were 9 patients from four families in the Middle East, with no way to contact them or follow their progression. We just existed: Lost, scared and alone until we learned of the Duffy Family, through social media. Shortly after that, we met at Boston Children's Hospital.
Less than a year later, we have provided solace and hopefulness to several more parents of newly diagnosed children, most around 3-years of age, who would benefit greatly if research proves fruitful and progression is deterred in the next few years. Treatment can only halt or slow down the destruction of this disease, but not reverse damage.
IMMEDIATE TREATMENT IS URGENT
Degeneration typically begins between 3 to 5-years-old. Paraplegia or quadriplegia, and loss of speech gained are expected by age 10. Robbie is 3-years-old and we are already seeing distressing signs of muscle change.
We need your help to raise research funds. We will need at least $2 million to see these two separate research options through from proof-of-concept to human clinical trials. Let’s see if we can make half of that by December 12, 2017- the day Robbie turns four. What a birthday present would that be!
We are calling on the generosity of family, friends, neighbors and strangers to help us fund #ResearchforRobbie
With your help, we can reach this goal together and give Robbie a future that is as bright as her smile.
With so much gratefulness,
Kasey, Chris Robbie and big brother Davis
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 #ResearchforRobbie
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)
Follow Updates on Facebook
Read More About Gene Therapy
Read More About IPSC Research
Read More About Cure SPG47
In the Press
PEOPLE Magazine
WCVB Ch. 5 News
Boston Children’s Hospital THRIVING Blog
Inside Edition
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. And much gratitude to Mark Lawler for putting so much time, heart, and energy into producing this video.
Watch how it all began when we met the Duffy family and, parents and daughters alike, knew they had made friends for life.
Robbie showing off walking up a hill.
And nailing it at speech therapy.
Robbie and Molly, together again, for a playdate.
This smile. It really justs makes my day. I hope it makes yours, too.
She smiles, with very few words to actually say why. She smiles with other children and at other children, though she can’t quite keep up with them. We live for her smile. Her positivity is unwavering, but her future is insecure.
Of the few people followed with SPG47, the reports reflected non-verbal, severely intellectually disabled paraplegic or quadriplegic teens and young adults, life expectancy unknown due to the rarity. These children work incredibly hard to achieve milestones, and then gradually lose them by their teens. In this, slowly progressive is a GOOD thing. The worst is yet to come. The next few years are crucial. And so, we fight.
Working with the Duffy family, whose daughter Molly is also affected, we formed Cure SPG47 and we brought some of the greatest minds in the fields of neurological disorders, gene therapy, cell biology and translational neuroscience together to help come up with the most promising research to study.
Now, we have two research projects started and can allow ourselves some hope. Hope that we can fully fund successful research and hope that we can do it in time to stop or slow down progression for Robbie. We’ve started gene therapy through Prof. Mimoun Azzouz at the University of Sheffield, England, and induced pluripotent stem cell (ipsc) research for off-label FDA approved drug use through the Sahin Lab at Boston Children’s Hospital.
WHERE THE MONEY IS GOING
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 Robbie, the handful of other young children now with this diagnosis, and those that have yet-to-be diagnosed.
OUR STORY
When we first heard of SPG47, the only record we had of those affected were 9 patients from four families in the Middle East, with no way to contact them or follow their progression. We just existed: Lost, scared and alone until we learned of the Duffy Family, through social media. Shortly after that, we met at Boston Children's Hospital.
Less than a year later, we have provided solace and hopefulness to several more parents of newly diagnosed children, most around 3-years of age, who would benefit greatly if research proves fruitful and progression is deterred in the next few years. Treatment can only halt or slow down the destruction of this disease, but not reverse damage.
IMMEDIATE TREATMENT IS URGENT
Degeneration typically begins between 3 to 5-years-old. Paraplegia or quadriplegia, and loss of speech gained are expected by age 10. Robbie is 3-years-old and we are already seeing distressing signs of muscle change.
We need your help to raise research funds. We will need at least $2 million to see these two separate research options through from proof-of-concept to human clinical trials. Let’s see if we can make half of that by December 12, 2017- the day Robbie turns four. What a birthday present would that be!
We are calling on the generosity of family, friends, neighbors and strangers to help us fund #ResearchforRobbie
With your help, we can reach this goal together and give Robbie a future that is as bright as her smile.
With so much gratefulness,
Kasey, Chris Robbie and big brother Davis
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 #ResearchforRobbie
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)
Follow Updates on Facebook
Read More About Gene Therapy
Read More About IPSC Research
Read More About Cure SPG47
In the Press
PEOPLE Magazine
WCVB Ch. 5 News
Boston Children’s Hospital THRIVING Blog
Inside Edition
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. And much gratitude to Mark Lawler for putting so much time, heart, and energy into producing this video.
Watch how it all began when we met the Duffy family and, parents and daughters alike, knew they had made friends for life.
Robbie showing off walking up a hill.
And nailing it at speech therapy.
Robbie and Molly, together again, for a playdate.
This smile. It really justs makes my day. I hope it makes yours, too.
Organiser
Kasey Walsh Edwards
Organiser
Newburyport, MA
Cure SPG47, Inc.
Registered charity
Donations are typically 100% tax-deductible in the US.
