GP2C team - Happy back to school! We hope you are enjoying the latest edition of Rett Girl Magazine. We want to offer our most heart-felt thanks to Bridget MacDonald for all of her hard work and dedication to Rett Girl over the past several years, and wish her luck as she departs from Rett Girl to dedicate more time to her family. Luckily for us, we look forward to her continued participation on the GP2C Power Team!
As you have opportunity, please stop by the GP2C Shop and meet some of our new collaborating artists like Taryn Haas. We also have new products from Kourtney Barnum and Candice Samples-Morris! We are excited to feature these new designs from our talented community, and would love to hear from you if you have additional ideas for products that we might feature.
September is shaping up to be a great month at Girl Power 2 Cure. We have several events in work, including a sold-out Rockin’ for Rett Huntsville, Rett U Live in Jacksonville, FL, continuing registrations and fundraising events for Disney Princess 2019, and an exciting Rett U seminar series (in collaboration with the University of Alabama Huntsville and Tobii Dynavox) for local educators beginning in north Alabama later in the month. We are hard at work spreading awareness and helping the Rett Syndrome community in every way we can!
Here’s a quick clip from the Rett Syndrome research world…
Over the last few years, many of you have followed the development of Neuren’s new drug, Trofinetide, through its early-phase safety and efficacy trials. The announced alliance between ACADIA Pharmaceuticals and Neuren Pharmaceuticals is yet another example of the exciting progress we are seeing in the ongoing battle to develop and bring-to-market treatments for our kids. Much like the Novartis/AveXis acquisition announced earlier this year, the ACADIA/Neuren alliance signals strong support and “big name” backing for the expensive and often complex path to FDA approval. We will continue to follow this and will keep you informed!
Thanks, and stay tuned for more as we approach Rett Syndrome Awareness month in October. Please let us know if you are considering any kind of awareness or fundraising campaign for October… we have many resources available to support our community, and we would love to help administer, promote or recognize your event. And from all of us at Girl Power 2 Cure and Rett University, have a great September!
Hey guys, hoping this note finds everyone well and getting ready to head back to school. Make sure to check out our newsletter links below for the upcoming edition of Rett Girl Magazine! It will be full of timely information for back-to-school, some cool new products in the GP2C Shop (where we are so excited to introduce Taryn Haas as our new collaborating artist) and tips for getting back into the rhythm of the school year. And make sure to check out my new article, “Keep Them Ready!”
From the research world – we want to make sure everyone takes advantage of this:
This is a great resource from AveXis-Novartis to help you track all the latest news and exciting developments from the gene therapy studies and trials! Sign up and don’t miss any of the breaking news!
I also came across an interesting article which you might like also (I’ve included a few segments from the article below):
A Massachusetts General Hospital (MGH) research team has developed a new female mouse model for the neurodevelopmental disorder Rett syndrome and in the process found evidence that relieving symptoms of the genetic disorder may require only partial expression of the normal copy of the involved gene, MECP2….
"What was remarkable… was the therapeutic benefit observed in female mice in which MECP2 was expressed in only 5 to 10 percent of brain cells. The mice showed significantly extended life and reduced disease severity."
“…Even small amounts of MECP2 expression appear to have big effects, which is very promising for the development of Rett syndrome treatments. …Partial reactivation could yield therapeutic effect while reducing potential side effects. The X reactivation approach would also be an alternative to gene therapy, which is challenging because MECP2 expression needs to carefully controlled, since too much leads to neurologic disease. Finding that not every cell needs to express MECP2 for therapeutic benefit indicates that a very low, safe dose could be effective."
All good stuff and keeps us working hard every day here at GP2C on behalf of our Rett kids!
But we need you too! If you have the desire and energy, we can help you make it happen! Be it a dinner, luncheon, or charity run or ride, we can support you with website development, participant registration, collection of funds, artwork and graphics, social media promotion, programs, prizes and more. Know anyone who sells oils? Vitamins? Jewelry? Many of these good folks love to do charity profit-shares! Give them a call! With everyone chipping away, we can collectively make a huge difference!
And last but not least – Disney Princess 2019 is in full swing! Don’t miss your chance to get your bib, and we are looking forward to seeing everyone in Orlando next February.
Have a great August!
Hey everyone, happy summer-time wishes from GP2C! I’m hoping this letter finds you well, and everyone has had a chance to wind down and enjoy a little summer fun. I thought I would dedicate this quick letter to a few of the research items we’ve been following here at GP2C!
Of course, we have spoken at length about the Avexis gene therapy studies, and the very positive news of the Novartis/AveXis acquisition. Progress continues with the recent announcement of plans to establish a new production facility for the development and manufacture of AVXS-101, -201 and -301 (with -201 being the “high interest therapy” to our community). Visit the link below for more information, but here’s a clip from the article:
The company is anticipated to invest about $55 million into the new facility and open up about 200 new jobs, giving a boost to the state’s economy while improving its capabilities to manufacture therapies targeting rare neurological and genetic diseases… “Our primary focus is to bring gene therapies to patients suffering from devastating rare neurological diseases — such as SMA, genetic amyotrophic lateral sclerosis, and Rett syndrome — and continued investment in establishing our manufacturing infrastructure is a critical component to accomplishing this goal,” said Andrew Knudten, senior vice president of technical operations and chief technical officer of AveXis.
And how about this from our friends at RSRT… a recent award of over $900,000 to Dr. Stuart Cobb at the University of Edinburgh to pursue Spliceosome-Mediated RNA Trans-Splicing (SMaRT). Here’s a clip from that announcement:
Spliceosome-Mediated RNA Trans-Splicing (SMaRT). This technology allows a mutation to be spliced out and repaired in RNA, the intermediate between DNA and protein in the cell. The advantage is that this approach avoids any potential over-expression issues that could result from directly modifying DNA or giving extra protein. Dr. Cobb’s approach aims to correct mutations in the intermediate RNA transcript, allowing the MECP2 gene and the MeCP2 protein product to remain under normal gene expression controls... Once the SMaRT approach is optimized, it will be tested in mice with the full human MECP2 locus that contains the MeCP2 gene and all of its regulatory elements, to determine if this approach can be used in humans.
These are a just a couple of the latest announcements from RSRT research activities that we support through your generous donations! And finally, this from the RSRT Gene Therapy Consortium:
…The data generated by the Consortium exceeded our expectations. They were able to develop a gene therapy product candidate with impressive efficacy, safety and delivery characteristics. Importantly, the magnitude of improvement in the mouse models of Rett is much greater than that of any drug tested and suggests that significant benefit may be achieved in people. We expect improvements, at least to some degree, regardless of age.
As exciting as these and other announcements may be, we must stay focused on the day-to-day support and development of our Rett children. I know you do, because I hear positive stories (almost daily) of families and support teams fighting the battles to keep our kids strong and ready. This means never losing sight of the physical, emotional and educational needs of our Rett kids. We must win the battles and then win the war!
Exciting breakthroughs are coming – I believe this with all my heart and soul, and I hope you do also. GP2C is here to help, not only with our research targeted donations, but also through our family support teams and Rett University literacy programs. Let’s make sure our kids are ready!
IT’S MORE THAN JUST HOPE!
Kevin, GP2C Director of Development
Happy Summer to our GP2C Community! We are all ready for a break from school and a little warm weather! I hope this letter finds everyone well and looking forward to some summer fun. This letter is coming to you from the beach where Blakely and I are digging our toes in the sand for a few days before the Memorial Day rush!
From prior news, just wanted to let everyone know that the Novartis-AveXis acquisition is complete as of mid-May! This is exciting news for our community and bodes well for the continued progress of the AVXS-201 gene therapy trials. We now have the strength and resources of the fourth largest pharmaceutical company in the world behind this important work. Several other exciting research projects have been announced or recently completed, and I would invite you to review their progress here: https://reverserett.org/research/clinical-trials/. So pat yourself on the back… these projects cannot happen without your generous research-focused contributions!
Speaking of fundraising… we continue to make outstanding progress toward our fundraising goals for 2018. But as we say at GP2C, there’s still work to do! We are making plans for several rides, runs, dinners, Facebook Fundraiser contests and other events as the year progresses, so please stay in touch with our complete list of upcoming events in every newsletter! And if you have any great ideas, let us know – we are ready to support you with registrations, event planning, merchandise, prize packs and just about everything you need to execute an outstanding event!
And in more exciting news from GP2C, we have expanded our Power Team! Make sure to read about our newest members and their collective passions to help us achieve our goals for conquering Rett Syndrome, supporting our families, and growing Rett University. We are super-excited about our team and can’t wait to see the energy and results we know they will bring!
IT’S MORE THAN JUST HOPE!
Kevin, GP2C Director of Development
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 firstname.lastname@example.org, 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!
Kevin, 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.
Kevin, 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.