By: Lauren Corwin
Mitochondrial disease are, sadly, an upcoming future for 1,000 to 4,000 children each year in the United States alone. But what exactly is Mito? Ashlee Senn, a parent of two children, Breylon and Brynlee, with Mito, answers a few questions to help provide a better understanding of what Mito is and how it changed her families views on life.
When asked what exactly is Mito, and what are the causes, Ashlee responded, "Mito is the bodies inability to convert food and nutrition into energy needed for organ function. It
causes cellular failure and over time, organ failure. It can affect multiple organs. There are three main causes, mtDNA mutation (inherited from mother), nDNA mutation (inherited from both parents), and spontaneous onset (genetic and environmental)." Both of her children have the nDNA mutation, more specifically encephalomyopathy, which is a neurodegenerative form.
Curious of the symptoms of a mitochondrial disease, I then asked what symptoms she first noticed in both of her children. "Regression of skills, seizures, developmental delays, and gastrointestinal dysmotility were present within the first few months of life. It was much harder to recognize in Breylon because we didn't know what we were seeing, it was much more obvious with Bryn because we knew the signs." The United Mitochondrial Disease Foundation also can add severe vomiting and a poor immune system.
Knowing these symptoms made me wonder what Mito does exactly to the body to cause all of these horrible things. "It causes cellular failure which can manifest in various ways depending on the organ(s) affected." Ashlee said, "For Breylon his neurological and gastrointestinal organs were most severely affected. He struggled with brain degeneration, cognitive impairments, seizures, intestinal failure, kidney and liver failure, as well as much more. Bryn struggles with gastrointestinal dysmotility, adrenal insufficiency, vision and hearing impairments, as well as muscular weakness."
Knowing this family's story personally, I had to ask how they have changed as a family to compensate for these unlucky events. "It has changed the way we view life. We appreciate life so much more now. When we made the decision to have another child (Bryn) we met with genetic counselors, doctors, etc and were told that the chance of another child being born with Mito was 25%, so we had a 75% chance of a healthy baby. When she began showing symptoms we felt such grief and guilt over it. We love her and can't imagine life without her but, we feel guilty because we knew there was a 25% chance. It was our selfish wants of another child. After Breylon died, our whole view on life changed. Throughout his life we focused on living in the moment but after he died we grieve for the past. It's a constant struggle to keep moving forward."
After hearing the exact chances they had of hearing a healthy baby, you can only wonder what is being done for treatment/prevention and the cure. To lessen the effects, patients can have "symptom control but no real treatment. There is some great clinical trials that may bring hope to those with Mito." The cure has scientists in a bind, and here's why: "Mito is so complete. There are over 200 forms. No two patients are the same. There are multiple ways of Mito onset as well. It's extremely complex." Ashlee has her own way to help find a cure, she started and ran the Breylon 5k Run/Walk in memory of own son that is held at Tri County High School's track every year in March.
For more information or on where you can donate, visit the United Mitochondrial Disease Foundation or the Foundation for Mitochondrial Medicine. If donating is something that interests you and want to donate to the Breylon Senn Research Fund click here.
When asked what exactly is Mito, and what are the causes, Ashlee responded, "Mito is the bodies inability to convert food and nutrition into energy needed for organ function. It
causes cellular failure and over time, organ failure. It can affect multiple organs. There are three main causes, mtDNA mutation (inherited from mother), nDNA mutation (inherited from both parents), and spontaneous onset (genetic and environmental)." Both of her children have the nDNA mutation, more specifically encephalomyopathy, which is a neurodegenerative form.
Curious of the symptoms of a mitochondrial disease, I then asked what symptoms she first noticed in both of her children. "Regression of skills, seizures, developmental delays, and gastrointestinal dysmotility were present within the first few months of life. It was much harder to recognize in Breylon because we didn't know what we were seeing, it was much more obvious with Bryn because we knew the signs." The United Mitochondrial Disease Foundation also can add severe vomiting and a poor immune system.
Knowing these symptoms made me wonder what Mito does exactly to the body to cause all of these horrible things. "It causes cellular failure which can manifest in various ways depending on the organ(s) affected." Ashlee said, "For Breylon his neurological and gastrointestinal organs were most severely affected. He struggled with brain degeneration, cognitive impairments, seizures, intestinal failure, kidney and liver failure, as well as much more. Bryn struggles with gastrointestinal dysmotility, adrenal insufficiency, vision and hearing impairments, as well as muscular weakness."
Knowing this family's story personally, I had to ask how they have changed as a family to compensate for these unlucky events. "It has changed the way we view life. We appreciate life so much more now. When we made the decision to have another child (Bryn) we met with genetic counselors, doctors, etc and were told that the chance of another child being born with Mito was 25%, so we had a 75% chance of a healthy baby. When she began showing symptoms we felt such grief and guilt over it. We love her and can't imagine life without her but, we feel guilty because we knew there was a 25% chance. It was our selfish wants of another child. After Breylon died, our whole view on life changed. Throughout his life we focused on living in the moment but after he died we grieve for the past. It's a constant struggle to keep moving forward."
After hearing the exact chances they had of hearing a healthy baby, you can only wonder what is being done for treatment/prevention and the cure. To lessen the effects, patients can have "symptom control but no real treatment. There is some great clinical trials that may bring hope to those with Mito." The cure has scientists in a bind, and here's why: "Mito is so complete. There are over 200 forms. No two patients are the same. There are multiple ways of Mito onset as well. It's extremely complex." Ashlee has her own way to help find a cure, she started and ran the Breylon 5k Run/Walk in memory of own son that is held at Tri County High School's track every year in March.
For more information or on where you can donate, visit the United Mitochondrial Disease Foundation or the Foundation for Mitochondrial Medicine. If donating is something that interests you and want to donate to the Breylon Senn Research Fund click here.