Last night I stopped in my busy tracks. I was walking the dog. I realized for the first time that the leaves are turning despite the warm fall. The sky had a shimmer of deep yellow, almost orange bundled with a bright pink. I tried to take pictures but my IPhone couldn’t capture the magic light. As I slowed down and took it all in, I started thinking about my son Jacob. He has been a Mito Angel for a little over two years. He is not physically here guiding me any longer, but in the evening light I felt his strength. I witnessed many times people having a case of Jacob. It was a magic light around him.
It’s an art to honor your child’s memory. It’s not a destiny I wish on anyone, but yet again we moms wake up each day, we find new things to fight for, we cherish the good precious things in life, and we find that tears and laughter are part of life. So simple, so hard, so true.
We’re once again entering Mito Awareness Week. It’s more hope in the Mito community than ever before. We are starting to talk about clinical trials with treatments for our Mito patients. The genetic research field is moving rapidly forward. The genetic testing is more advanced than the interpretation of the results. There is hope for our patients who work so terribly hard to breathe, to walk, and to fight this disease hitting the major organs of our bodies. Our mitochondrial friends are fighting the things in life we take for granted, the things we might complain about like walking up a flight of stairs. They continue to fight despite having very tired bodies and brains.
Jacob’s mitochondrial disease is continuing to advance research. After they discovered that gene CARS2 is the disease causing gene for Jacob, they have now discovered that all genes in that family of genes are leading to mitochondrial disease. They are now called mitochondrial translation diseases. This is because these mitochondrial patients are still producing sufficient mitochondria, but their bodies don’t know how to translate the mitochondria into protein. Protein turn into energy. Jacob was at all times producing 200% mitochondria, but his body didn’t know how to use it.
One of our local researchers has decided to study the CARS2 gene further, and she has figured out that there might be a possible treatment for translation mitochondrial disease. By feeding the fiber blast with amino acids, she is seeing positive results. She recently got a NIH grant to further her research in a study on mice or fish. Our Belgian researcher believes this is very promising, and might lead to its’ own clinical trial one day. Words of hope.
I sincerely hope I get to witness that day, but it’s bittersweet. My eyes were filling with tears and my heart was pumping a little faster when I heard about the interest and the hope around Jacob’s disease the first time. This is Jacob’s piece of contributing to history. His fabulous Mitochondrial team right here in Colorado continued to further research.
At the same time, it’s bittersweet. I have to admit it hurts a little. It hurts a lot that Jacob was not able to hold on until there was a cure. It hurts, but at the same time it does give meaning. It does give meaning to the life Jacob lived and fought so hard to live. It makes meaning to all those days and night spent in the ICU and in the hospital. It makes meaning to that beautiful face that I learned to interpret without Jacob uttering a single word in his life. It makes me shiver and get back to the core values of life.
As we enter mitochondrial awareness week, please follow us on our Facebook page. Learn about this rare disease and the true heroes behind this disease. They all deserve awareness. They all deserve hope. They all deserve a cure.
President, Miracles for Mito