Sunday, April 20, 2014

Team Leah Bean

We feel so fortunate this year to have two great friends from New Hampshire running the Boston Marathon to raise funds for Leah, making Team Leah Bean FOUR runners strong! 

For my own sake, I wanted to record some of what they wrote on their fundraising pages in regards to running for Leah and Team Rett.

Elissa was one of the first people I met when we moved to New Hampshire - she went to our church and she was also an instant running partner (a very patient one since she was much faster and stronger on the hills than me!). Elissa is also an incredible pianist and an extremely talented vocalist. That girl's voice can melt butter. She's also a very busy mother of four super cool kids. She is one of the happiest, most helpful and most hopeful women I have ever had the pleasure of meeting. From day one she was interested in learning more about Leah, she included Leah in conversations and activities and she got her own four children personally involved in fundraising for last year's race. Elissa now lives in Idaho and trained through a long and cold winter, sometimes heading out for runs at 4 am so she could be back in time to get her kids off to school.

This is what Elissa had to say on her fundraising page:
"In 2011 I had the privilege of making a new running friend, Maren, and her daughter Leah.  I had never heard of Rett Syndrome before.  I soon learned about the challenges it presents to affected girls and their families.  I listened as Maren told Leah’s story. I watched Maren and her husband Ryan learn to cope as Leah developed symptoms like seizures.  I watched them teach Leah how to communicate with them and the world without the ability to speak.  I admire this family as they, like so many others, encounter and face these challenges with courage, endurance, and hope for a cure.  It is my privilege this year to run the Boston Marathon 2014 in behalf of Team Rett and raise money to fund research for IRSF.  Thank you for your donation!"
Blythe was a classmate of Ryan's at Tuck and eventually one of Leah's horse therapists. Leah just beams when Blythe is around. And I know it's because of the way Blythe treats her. Blythe expects a lot of Leah because she knows Leah's capabilities and potential, and I love that. Some of my favorite memories from New Hampshire are of Leah riding horses with Blythe by her side. Blythe is smart, hard working, compassionate, generous and fun. And as a side note, she had never run more than 3 miles before signing her name on the line and pledging to run a marathon, but she knew she wanted to do it for Leah! Blythe now lives in Colorado and trained through a cold, snowy winter in the mountains, all while juggling some extremely difficult family situations that arose last fall.

This is what Blythe had to say on her fundraising page:
"I began working with disabled children when I was 13, first as a volunteer and then later as a certified instructor in therapeutic horseback riding programs. Through my involvement, I have met hundreds children with a whole range of physical and mental disabilities and been deeply touched by many of them.
"However, despite all my training and experience, I had never even heard of Rett syndrome until I met Ryan Layton, a classmate at the Tuck School of Business, and shortly after his daughter Leah, who was diagnosed with Rett syndrome at 2.5 years old. At the time, I thought I’d seen it all – kids who couldn’t talk to me, kids who wouldn’t acknowledge my existence, kids who were blind, kids with severe physical limitations – and yet I thought I could handle it all. But Leah stopped me cold in my tracks. “Okay, fine, she can’t talk to me – but I’ll bet she can sign! Oh, wait, she can’t use her hands … Oh, but I could use a picture board with her! No, Blythe, she really has very limited even gross motor skills … Wow. How in the world am I going to connect with this little lady??
"Spending time with Leah has taught me more about communication and building connections between human beings than any other person I’ve ever been around. Thanks to the never ending dedication of Ryan and his wife Maren to build a rich, enlivening world for Leah, I’ve had the joy of working with Leah every week in a therapeutic riding program. Through her riding, Leah taught me that you don’t need words or functioning fingers or sometimes even your breath to tell someone you are happy, you’re trying hard, and you love them. All I need to see is how, when I ask Leah to hit the bell to tell her horse to walk on, her face screws up in determination, she holds her breath, we wait, and then … whack goes her hand on the bell! And then, she turns to look me right in the eye with a giant smile on her face saying 'yup, I have Rett syndrome. But it doesn’t matter. Because I hit that bell, and I’m proud of myself.'
"As I’ve gotten to know Leah, and learned more and more about her disorder, I’ve realized that Rett syndrome is as much a hopeful as a scary and difficult disorder. As difficult as it was at first for me to communicate with Leah, I know now that she, and other girls with Rett syndrome, is in there, and that she has a lot to tell me.
"I'm running this marathon because I want to support the research that might one day allow Leah to tell her horse to walk on with words rather than a bell. I love Leah just the way she is, and I have learned so much from her because of who she is now. But she deserves so much more. She deserves the chance to live a full life. She deserves to have the chance to tell us what she thinks, not rely on our guessing skills.
"I'm also running for her parents Maren and Ryan. Despite all the challenges they've faced raising Leah, they are wonderful, loving parents, amazing people, and dear friends. I'm honored to know them and to support them through this run.
"Thank you for your support!"
We couldn't be happier to call Blythe and Elissa our dear friends and are so grateful for their support, dedication and fundraising efforts. 

And, because I know many of you personally donated funds to Team Rett, below is a description of where the money went this year. So thank you!

The Rett Syndrome Association of Massachusetts (RSAM) is thrilled to announce that this year's Boston Marathon Team Rett will be supporting a study out of the lab of Michela Fagiolini at Boston Children's Hospital.  Dr. Fagiolini has been a long-time friend of RSAM and a champion for our girls.  The study is very exciting because it uses a very reliable mouse model with potential drugs in a pathway that has been shown to reverse the symptoms in other Rett models.  This project was recommended to RSAM by the International Rett Syndrome Foundation and has been approved by IRSF's Scientific Advisory Board.  

The Fagiolini laboratory at Boston Children's Hospital (BCH) proposes a preclinical study of two very promising modulators of the NMDA (N-methyl-D-aspartate) receptor, a special type of glutamate receptor in brain cells.  These receptors are critical in synaptic plasticity which is important for learning and memory, and are somewhat impaired in Rett syndrome.  In December 2012, Dr. Michela Fagiolini and colleagues showed that a genetic rescue of an imbalance of NMDA receptor components found in Rett syndrome could improve cellular function and circuitry (Durand et al, Neuron 2012).  Based on this work, Dr. Fagiolini aims to target the NMDA receptor with two drug compounds in a preclinical study in the Rett mouse model.  One is FDA approved ketamine, and the second is a new inhibitor of the NMDA receptor GLYX-13.  Dr. Fagiolini will work together with Dr. Nick Andrews of BCH to evaluate the safety, pharmacokinetic activity and efficacy of each drug.  A second part of this project is to ready a potential clinical trial design should these drugs be deemed safe and efficacious in the animal model.  To this regard, she will collaborate with Dr. Walter Kaufmann, director of the Rett Syndrome Clinic at BCH, to design a clinical trial that will evaluate these NMDAR modulators as potential treatments in girls diagnosed with Rett syndrome.   It is possible that the compounds could quickly move to future human clinical studies as a potential treatment of Rett syndrome, should the preclinical data show positive and robust outcomes.

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