Hey everyone – what an action packed and successful three months since I joined GP2C! We have had a tremendous response from you and your networks as we continue the battle against Rett Syndrome. We completed a spectacular event at Disney Princess, released the spring/summer edition of Rett Girl Magazine, supported our friends from Team Sparkle at the Boston Marathon, and received very encouraging news from Avexis on the recent success/progress of their gene therapy trials!
And regarding the latter, what exciting news to learn of the Novartis acquisition of Avexis! Several have asked my opinion on this, and while I have no intimate knowledge of the details beyond the basic announcement, one can only surmise that acquisition by the fourth largest pharmaceutical company in the world positions the Avexis team very favorably as they proceed with their clinical trial preparation and approvals; not to mention the definitive vote of confidence implied in the technology for gene therapy treatments of SMA, Rett Syndrome, and ALS-SOD1. The acquisition is expected to consummate by mid-year, and assuming successful completion, the funding to support their human trail approvals should be secure!
Finally, I want to thank each and every one of you who took the time to fundraise for us over the last several weeks! At one point we counted over 30 active Facebook Fundraisers in progress (and to those of you who contributed to my Birthday Fundraiser – thanks so much!). Please help us keep the momentum going… Birthday Fundraisers are a fantastic way to reach out to your personal networks, and so simple and quick to establish! If we can help in anyway, please contact me at email@example.com, and we will help get you going. Birthdays for moms, dads, brothers, sisters, aunts, uncles, grandmas and grandpas are all great opportunities to support our tenacious Rett girls and boys, and the research, educational programs and family support mission of GP2C!
It bears repeating, today we have MORE THAN JUST HOPE! But there is still work to do, and we need you, your families and your network of friends and colleagues to help us execute the mission for all of our beautiful girls and boys who fight everyday of their lives!
GP2C Director of Development
Jenny will be volunteering as a contributing writer to the Rett Girl Magazine, a Girl Power 2 Cure, Inc. online and hard-copy magazine publication dedicated to educating and spreading awareness to thousands around the globe impacted by Rett Syndrome.
An avid hiker and nature lover, Jenny has made it her mission to give Magnolia a lifetime full of adventures while writing about them. Jenny shares, “Girl Power 2 Cure has a special place in my heart. Like all parents, the first year of diagnosis was extremely challenging. I found Girl Power 2 Cure and connected with GP2C families from around the world and was inspired to not allow myself or my family to become victims of this debilitating disorder. Instead, I decided to run the Disney Princess Half Marathon with GP2C and found it gave me the much-needed respite I needed from our new daily life. It gave me something to work towards as I learned to deal and cope with this new life of living with Rett Syndrome. Training for the half marathon, daily yoga therapy and weekly hikes has brought adventure and balance back into my life.”
Jenny’s writing gives an honest and sometimes comedic perspective of her family’s journey with Rett Syndrome. Jenny discovered her desire to be a writer while studying with the Second City Conservatory in Los Angeles. After her daughter Magnolia’s diagnosis in December 2013, Jenny was unable to write, finding it difficult to express all that was beginning to happen and unfold. As time moved forward, Jenny has become an advocate for her daughter, finding her voice as a writer and also finding a way to put adventure back into their life.
GP2C COO Roger Brooks shares, “Many of us have watched Jenny and her family open up about their journey with our Rett Syndrome community and others, all the good and challenging. Their story compels us all to think about how we too are living life with Rett Syndrome and how we have opportunity to do the best we can, taking notice of the small wins and the adventures we as parents, family and friends have opportunity to create.”
Jenny will be contributing regularly to the Rett Girl Magazine as well as hosted blogs throughout the year. Her column titled, “Life Adventures with Rett” will be featured in the upcoming Spring/Summer Rett Girl Magazine scheduled to be released in mid-April.
Jenny continues, “I want families to know we get it. We understand what they are going through and once you come out of the shock and disappointment of the diagnosis, remembering your child has so much life to live, it’s just going to be a little different than most and that is okay. Don’t get me wrong, I hate Rett Syndrome and what it’s done to Maggie but I’m also reminded that I have a beautiful, bright young lady that deserves to live a wonderful life as best she can. And, we are going to do our best to make that happen for her and share with others how they can too. On a good day in Los Angeles, a hike up to the top of Runyan Canyon will give you a 360-degree view around the city, from the oceans to the mountains to the downtown skyscrapers. On the best days, Magnolia has made the hike with us, up the mountain to enjoy the view too.”
I remember vividly the day we received Blakely’s Rett diagnosis. It was late in the afternoon (a Friday I think), and I was home snoozing on the couch. My wife Sonja came home, in tears, and broke the news to me. The next 48 hours are really just a blur, but being forever the engineer, I dove into a Google marathon. I built rockets and spaceships … I can solve this problem – it’s what I do.
I admit, I am a certified information junkie, with informal “Google PhDs” in multiple subject areas. I trolled every Rett site, read every blog, and scoured PubMed for the latest research. I took copious notes, correlated all the data, and drew my conclusions … in technical terms – it wasn’t good … this was going to be a battle. There was no cure, and even the most advanced research was still stuck in the lab – mostly with mice as the subjects. Adrian Bird’s mouse reversal was the latest, greatest, most encouraging piece, but how would they make it work in humans? Still a big question mark. It was all raw and preliminary – maybe we can edit the gene, maybe we can flip-on the inactive X, maybe we can replace the MECP2 protein … lots and lots of maybes … but still hope.
Fast forward to today, and as most of you are likely aware, our partners at the Rett Syndrome Research Trust and AveXis, a biotechnology company, are working together to develop gene editing protocols for Rett Syndrome – theoretically, a cure. This is not the only research path being pursued by our RSRT friends, but it is certainly high on my watch-list.
On February 27th of this year, AveXis held their quarterly conference call to report financial status and developmental progress on three key disease treatment programs, all similar due to their mono-genetic (single mutated gene) attributes:
The news is positive… very positive. SMA is a really tough condition, usually resulting in death at a very young age for those diagnosed with it. But thankfully, the SMA trials in human subjects are progressing, and results are (very) encouraging. The delivery protocols are working, the symptoms are subsiding, and the safety profiles and data are positive.
As for Rett Syndrome, the delivery protocols and techniques are very similar to those for SMA, and the unique considerations for Rett Syndrome gene therapy are being substantiated in both mouse and primate subjects. Two of the key differentiators for Rett Syndrome are 1) targeting the correct brain and spinal cells, and 2) that MECP2 over-expression is avoided. AveXis lab data is positive in both respects. Similar positive news for families battling ALS was also reported.
Wow. Just absolute wow.
Please know – I am not uniquely educated or necessarily qualified to draw medical or biotechnical conclusions, but as the grandparent of a Rett child, I’m pretty excited – actually very excited. From my layman’s perspective, this is the most exciting news since the Bird Lab mouse reversal. Why am I talking about it? Because now, it’s more than just hope. There is real science, real evidence, and real laboratory data that the gene can be treated– safely. AveXis will be pursuing FDA approvals for Rett Syndrome human trials. How quick or successful that will be is still to be determined. So, what do we do now? Sit back and wait? Throw a party?
My answer is this – we keep doing what we have been doing, and we do it with all the vim and vigor we can muster! Now is the time to press. Now is the time to renew our efforts and drive even harder!
Today it is truly MORE THAN JUST HOPE, but there is still work to do, and we are ready to face the challenge with all of your help and support. Every post, every share, every slice of information you use to create awareness, and every donation brings us closer. We couldn’t do it without you, your family and your network of friends and colleagues. We won’t sit back at Girl Power 2 Cure and wait; instead, we will press on, raise more, teach more and prepare our girls and boys for the future they deserve.
GP2C Director of Development
We often refer to our Rett kids as angels. Some will mistakenly say “silent angels,” but Susan Norwell will emphatically remind you that they have plenty to say! I am reminded of an old hymn that speaks of the “Seraph’s Song” – referring to heavenly angels singing. Since Blakely’s diagnosis in 2014, this hymn always makes me emotional (and I’m generally a tough nut to crack) – thinking of our beautiful angels, and how they sing in a way that many cannot appreciate.
Without exception, every Rett child that I have met has a certain nature – a sweet, trusting and compassionate disposition that is hard to describe, but nonetheless palpable – I think “angelic,” despite their many physical struggles. As parents (and grandparents and aunts and uncles and friends), we wish nothing more than to relieve their pain, comfort their anxiety, and maybe most of all, to hear their voice.
After a 30-year management career with The Boeing Company, I recently retired. I suppose staying retired never had much of a chance, and I’m thankful and excited to now be part of the dedicated Girl Power 2 Cure Team. Our mission is simple – support families and raise awareness, educate and enrich our kids, and support the cure-targeted research that we all believe will be successful. We sum all this up in our byline … making impact for today and tomorrow!
I absolutely believe in these words. The passion I experience from families and supporters is resolute. Research projects targeting the underlying genetics are advancing, some nearing clinical trial phases. Our Rett University programs and technologies are expanding across the world, creating impact in places we never dreamed we could reach. Our family support teams are having a measurably positive effect on quality-of-life for our angels and our families. And every day, we are here, ready to serve Rett families in whatever ways we can. Despite the daily struggles I know you all endure, these are exciting and hopeful times. I believe we have no choice but to stay focused, supportive and dedicated to this mission, and you have my commitment to do just that.
Like many of your daughters (and a few sons), Blakely loves music. Toby Mac, Mandisa, Imagine Dragons, and just about anything rap (7-year-old-appropriate) are on her playlist. We crank-up Alexa and sing and dance as often as we can. Blakely dances and laughs (her giggles are contagious) right along with us. My prayer is to hear my angel Blakely sing with us. But until that time, I want her participating in life; learning and enjoying everything that we enjoy. I want this for your family too.
Like the Seraph’s Song, won’t it be a wonderful day when the cure is delivered, and all of our angels combine their angel voices into an earthly song? And not only sing, but also share all of their thoughts, opinions and experiences … because we gave them that gift by informing the world that they are smart, capable and engaged? As Susan Norwell’s most recent blog reminds us – there is still work to do – so, let’s get busy!
Kevin (aka: Blakely’s Papa-Coach)
I am not only a volunteer and donor, I am also a mother of a Rett girl. This organization is more than inspiring! They made me want to do more than just wish and pray for a cure, but rather become part of finding one! They make you feel so welcomed and understood, as if they have known you all your life.