Dear friends and family,

In the past months, our family has faced a significant and life-altering change. Some of this you may have heard already, but in case you haven’t, I’ll take it from the top.

Two months ago, I discovered Emi in a terrible state when I went to wake her up. She was covered in vomit, unresponsive, cold, blue and limp. After some time, she began to regain consciousness and attempted to communicate. We later learned that she had been having seizures in her bed for about an hour, laying on her back and choking on vomit.

An ambulance rushed us to the emergency room, where it took hours to bring the seizures under control. We spent nearly a week in the ICU, during which Emi made a full recovery. During our time in the hospital we discovered the underlying cause of the seizures.

Genetic testing revealed that Emi has a rare genetic condition known as Mitochondrial disease. This is a blanket term with many sub-categories, but essentially, most of Emi's mitochondria, which are responsible for providing energy to cells, are not functioning properly. The disease can manifest in different ways, ranging from minor symptoms in adulthood to severe problems in infancy.

Emi's genetic mutation is most commonly associated with a specific form of Mitochondrial Disease called MELAS, which impacts multiple organs, particularly the muscles and brain tissue, including the heart. Symptoms associated with this condition include muscle weakness, cognitive decline, hearing loss, heart failure, seizures, dementia. It’s a long, sad list. Unsurprisingly, this condition will significantly shorten her lifespan. There is currently no cure or effective treatment for any Mitochondrial disease.

Leaving the hospital, we were informed that we potentially had months to a few years ahead of us before saying goodbye to our daughter. Since then, our neurology, genetics, and metabolic specialists have witnessed Emi's quick recovery back to her baseline with no lasting damage from the seizures, and have evaluated Emi’s baseline as better than what they’d expect to see in a typical MELAS patient at 4 years old. 

In reading her chart and looking at her mitochondria mutations on paper, they would presume to see a patient with significant cognitive delays, and more physical issues than she currently has. While still a MELAS diagnosis, it is possible she may exhibit only some MELAS symptoms, or progress at a slower rate.

Predicting the course of Mitochondrial disease is extremely challenging. Even with the same mutation and chart, ten individuals will have ten different outcomes. At this point, we face a wide range of possibilities. She may live into adulthood. On the other hand, the worst-case scenario is always in play. We’ll never really know until things start going downhill.

On a positive note, San Diego happens to be one of the few hubs for Mitochondrial disease research. The doctors who regularly see Emi are leading the field, and consult with patients from all over the world. We are in very good hands. While they cannot say for certain, there is some indication that viable treatments may be found within Emi’s lifetime. We don’t hang our hopes on this, but we’ll certainly take it.

So how are we doing? We are recovering from the trauma of watching our daughter go through the ER and the ICU. That is an entire chapter unto itself. There is a daunting fear of the future, knowing we will eventually have to witness a heartbreaking inevitability. We are mourning the loss of someone who is still with us. Really, we are mourning the loss of a future we unconsciously feel we are owed: Have children, watch children grow up, outlive children.

Stepping back into any medical setting sends our bodies back into a fight-or-flight stress response. We have sweated through a lot of laundry. Seeing the expression on your face when we share the grim diagnosis reinforces the harsh reality of our situation. It takes us a full day to recover from these conversations, which is why we chose to communicate through this letter. We can’t do this part in person another hundred times.

The kids are aware that Emi experiences seizures due to her condition, but they are NOT aware of the implications regarding her life expectancy or the possibilities of her decline. Someday, that will be a discussion - but we are kicking that down the road for when they are a little older. We appreciate your discretion on this matter.

We have a whole new set of variables as parents. We are trying to raise a resilient and independent girl, but now we have to decode if certain actions are a symptom of her condition or a symptom of a 4 year old. In case you’ve forgotten: 4 year olds are whiners!

Emi’s chances of seizure and decline are greatly increased during metabolic stress, so anytime she is sick, has a fever, throws up, is dehydrated, fasting or overextended from too much activity, we are watching her closely. She now has to take 11 doses of medication every day, this has not been easy. They are meds meant to be taken by IV, and they taste awful.

While we wrestle through all of this, the kids are doing great. Micah has been amazing. He has had the NBA playoffs to focus on, and his version of the playoffs which he plays on his hoop in the playroom. He has been so encouraging to his sister, helping her take her medicine and teaching her how to write. Emi is back to her normal self, and loves coloring, playing dress-up, and taking care of her dolls.

In our external day-to-day, we are moving through our regular routine of school, work, and loading the dishwasher. Internally, we bounce between paralyzing sadness for the future and overwhelming thankfulness for the present. We cry. A lot.

Watching our kids go through this will be a unique experience unto itself. This story will shape them into incredible people. Amidst deep sadness, there is a feeling that somehow God is making all things new, even in our suffering. It has forced us to take a wider view of life and eternity.

We are reorienting our expectations for the future. Attempting to let go of the illusion of control, and step out into a vast unknown - not with fear - but with anticipation for God’s definition of “abundant life”. It has not been easy, and it may never be. There has been an undeniable sense of God’s presence and peace with us through this journey. His ways are not our ways, but we choose to trust Him. 

"But this I call to mind, and therefore I have hope: The steadfast love of the Lord never ceases, his mercies never come to an end; they are new every morning; great if your faithfulness. "The Lord is my portion," says my soul, "therefore I will hope in him."" Lamentations 3:21-24

We thank you for walking with us too.

Ty & Cathy

Update: Please know that we don't have any donation channels set up. Any money you donate through this site goes to the Caring Bridge organization. 🙂

One final note: If you are interested in the science behind this particular gene mutation, there is a helpful PDF we are happy to forward along. Just let us know!