It feels like my gaps between writing are getting longer and longer. Truth is, I really miss writing … I just find the days slipping away from me between work, Koa and pregnancy (can you believe i am 32 weeks already, eek!!). I am just not sitting down to gather my thoughts at the end of the day like i wish I could.
First an foremost I want to thank you all SO much for reaching out, the cards, the balloon releases and so much more that you all did to celebrate Wylder on what would have been his 6th birthday (May 15th). We miss him so much, and this year seemed more bitter sweet then ever as we were reminded that we had 3 beautiful birthdays with him and this was our 3 year without. We celebrated him, like I feel like we do most days, but this day with a bit of cake and balloons too. Koa is starting to learn and understand more about his big brother and points to his picture when we ask “where is Wylder” and can now say “Wy” to let us know he is in his heart too. I wish they could have known each other in this life.
As most of you know, our second annual Living Like a Warrior Gala is just write around the corner. With that fast approaching Steven and I thought we would share some pictures and information about a project that Wylder Nation Foundation is funding and very excited about.
This is a Phase 1 dose response study of the prevention of sphingomyelin-induced brain pathology by intrathecal injection of Adeno-Associated Virus Serotype 9 carrying a competent copy of the human acid sphingomyelinase gene (AAV9-hASM) in pre-symptomatic ASM knock out mice…So what does all that mean?
Essentially this is to find an optimal dose in mice for a potential gene therapy treatment to prevent the neurological manifestations of Niemann-Pick Type A. The hope when all is said and done is to replace the defective gene (SMPD1 gene) responsible for causing the neurological components of the disease with a working copy of that gene through what is known as an Adeno-Associated Viral Vector with a specific serotype that has been developed by a lab that we are working with at UCSF.
We are confident if we can find an optimal dose of this therapy that can spread throughout the brain of these children without causing any detrimental side effects, the neurological manifestations of Niemann-Pick Type A can be permanently fixed with a single, fairly non-invasive infusion. At the end of the day this treatment could potentially be used in combination with an enzyme replacement therapy developed by Genzyme that is currently in clinical trials to assist with the systemic manifestations of Niemann Pick Type B (the non-neurological form of the disease) to treat NPA Children.
While there is still a lot that needs to be tested and worked out for this potential treatment combination, HOPE IS FINALLY ON THE HORIZON for the children and their families suffering from this devastating disease.
It feels like all things are possible because of Wylder and we thank you all so much of your continued support. We will share more updates, projects and happenings about the foundation at the gala. So if you haven’t purchased your tickets already, be sure and snag yours AT A DISCOUNTED RATE today! click here to purchase
We love you and we miss you Wylder. See you in our dreams little darling. Keep your littlest brother safe and thanks for the zestyness of Koa, we love him so much. xoxo
A Foundation Research Update
Posted by May 26, 2015 3 Commentson