Sunday, July 8, 2018

Hope is Being Able to See that there is Light- Despite all of the Darkness- Desmond Tutu


A mitochondrial diagnosis is dark. And lonely.

Here is where your donation will go to provide some hope and light.

Every 15 minutes a child is diagnosed with a mitochondrial deviation that will manifest by age ten. Since mitochondria generate energy within muscle and organ cells, clinical problems such as seizures, heart and liver issues, vision and hearing loss, muscle weakness, migraines, and developmental delays are prevalent.

Because of the complexity of the disease and the difficulty in getting an accurate diagnosis, mitochondrial disease is considered rare and is grossly underfunded. In 2012, our clinic at the hospital was at risk of closing its doors. The funds raised by our team enabled the clinic to remain open and continue to employ its researchers.

It is because of this team and their amazing efforts that we have a research presence in Colorado.

2013 we purchased a diagnostic piece of equipment for the lab called an Oxygraph. The Oxygraph measures oxygen exchange from one cell to another and can analyze where the breakdown in energy exchange happens.

2014 we contributed funds so that our neurologist could input needed data to make Children’s a part of NAMDEC – the North American Mitochondrial Disease Consortium.

-  This contribution made it possible for Dr. Austin Larson to come to Children’s through a  NAMDEC grant. He joined us as a fellow and is staying on as an Attendee focused on Mitochondrial research, treatment and clinical testing. Dr. Larson spoke and met with families this year at the UMDF conference- we are very excited to have him on board.

-  2015: We continue to support the clinic and bring on another research assistant

-  2016: We sponsor a grant between Dr. Larson and Dr. Green to fund a research project looking at the link between mitochondrial deviations and type one diabetes.

 2017: We have a protocol approved by Children’s Hospital to study mitochondrial disorders specifically in Colorado

-   Stealth Biopharmaceuticals announces that Children’s Colorado will be a trial site for a new mitochondrial drug Elamepretide.  This trial was only granted because of our ability to show sustainable, financial support to the clinic- all through Summits for Samantha. 33 sites were chosen internationally

And in 2018…. Children’s Colorado became part of the Mitochondrial Network of Care; one of 23 national sites.

-  Our researcher was awarded an NIH grant to advance her work. The Oxygraph we purchased was instrumental to her research.

-   We will see our first clinical trial patients in July

-  We continue to provide supplements, support and family grants to our mitochondrial community

What will next year bring????

All because of you.

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