Samsmom: Life, Joy, Loss and Loving your Mitochondria

Ya’ll have been on this journey with us for a while and we cannot tell you how grateful we are. In four short days we will climb up Freemont Pass, battle Battle Mountain, stop for a second to take in the view and because it’s me, shed a tear or two.  

As we have continued to support this clinic for almost 15 years, our financial commitment is notable. What has been most impactful is the ability to diagnose mitochondrial myopathies accurately and quickly. Genetic mutations cause mitochondrial disease. Our genes contain the information to make functional molecules called proteins. If a genetic mutation is significant, the production of that protein is lacking or nonexistent. Our cells depend on these proteins to thrive- as these proteins are not being created, cells start to die off and organ systems are compromised. 

What is AMAZING is that in some genetic mutations, we can isolate what protein is not being created and we can supplement. The most notable supplement we provide that can alter the disease progression is CoQ10. Our clinic has several families that are dependent on CoQ10, not just as a supplement they should be taking to help mitochondrial function but CoQ10 is protein that is missing and is vital to stop disease progression. 

How AMAZING that our TEAM provides funds to distribute CoQ10 to these families? This therapy with CoQ10 is just the tip of our research. Next step is looking into supplementing with different amino acids, dependent on the genetic mutation. It’s hard to believe 15 years ago this clinic was almost shut down to now identifying these complex genetic diseases earlier, to providing therapeutic supplements to alter the progression of these horrible diseases. 

Ya’ll are making a difference to so many families. 2023 Courage Classic Bicycle Tour: Summits for Samantha – Children’s Hospital Colorado Foundation (childrenscoloradofoundation.org)

Thank you.