Plea It Up!

Last year’s Tee It Up! For The GFPD event was an amazing success! 

To quote the internet:  it “was lit (fire emoji)” – it “gave me life” – it served as a “savage clapback” for rare diseases everywhere!   

The thought of trying to replicate that success level has been giving me massive anxiety over the past month. 

To be fair, the thought of the new Gilmore Girls episodes not living up to old episodes has given me so much anxiety that I have not watched the new episodes yet – so elevated anxiety is not, in itself, reason to worry.  However, this is so much more.    

In my line of work as an actuary, we are constantly calculating the return on various investments and personally I would love to have those statistics on the money raised from Tee It Up!  Unfortunately, putting a value on life changing research is extremely difficult.  But let me assure you, each dollar donated has been allocated to projects that I truly believe will make a difference, not just for Max, but all individuals suffering from Peroxisomal-based disorders.

Below is just a sample of the projects the GFPD is helping to sponsor:

• Retinal Gene Therapy at McGill University –  Scientists have started treating mice carrying PEX1 genetic mutations, the same as those seen in PBD children, with the normal PEX1 gene, which will hopefully help correct vision issues within these mice.  If successful, this would provide a viable treatment for our children and hopefully prevent future vision loss. 
• New Mouse Model with CNS defect – Similar to the retinal gene therapy, this treatment would target issues of the central nervous system in children with PBD, however first we need to build the mouse!  This is anticipated to lead to opportunities like bone marrow transplants and other targeted gene therapies. 
• Mouse Study with diosmetin – Oh god, more mice.  Prior to Max being diagnosed, there was a study involving a compound known as betaine, which had mixed results.  Scientists believe that a combination of betaine and diosmetin could affect peroxisome function and prove to be a treatment that curtails the disease.
• Drug Screen with the NCATS section of the National Institute of Health – Thousands of compounds previously approved by the FDA are being tested for their effect on peroxisome functions.  If a given compound proves successful, this would allow us to fast track through the expensive and time consuming FDA drug approval process. 

My anxiety stems from the fact that these projects are not fully funded.  Without continuous donations, these projects will have to be postponed.  If we don’t raise enough money, which one of these would you want to give up?  How do you put a price on possibly keeping a child, who is already deaf, from going blind?  Or possibly eliminating a child’s awful seizure activity?  And let’s be honest, given Max’s life limiting condition, the thought of postponing any possible breakthrough makes my stomach turn.  Especially, having listened to these studies be discussed by the leading scientists, it feels as if these developments are so, so close if just given the proper funding. 

So please, I know there are so many worthy causes out there and we feel so blessed with the amount of support we have received so far, but I sincerely hope you will see the possible return on your investment and choose to Tee It Up! For The GFPD on May 18th and 19th.  

Also, I should probably mention that not only are you keeping me from having a nervous breakdown, but the reception and golf outing are also a ton of fun!  What a combo, right?    

#MaxtotheMax

For more information or to register, sponsor, or volunteer for the event, please go to www.teeitup4gfpd.com