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:

  1. Their human trial regarding Spinal Muscular Atrophy (SMA) gene therapy protocols
  2. Their laboratory progress on a very similar gene therapy protocol for Rett Syndrome
  3. Similar reporting on gene therapy protocols for Amyotrophic Lateral Sclerosis (ALS-SOD1)

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! 

  •  Refocus on our children’s health – keeping them as strong as we can.
  •  Refocus on our fundraising efforts – we cannot lose this momentum! 
  •  And refocus on educating our boys and girls and making sure they are ready – ready to step forward when the cure becomes reality!

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