TO KNOW OR NOT TO KNOW

Sweet Jacob,

I have been thinking about you a lot. It still sometimes feel so unreal that you are gone forever. Forever. It's a big word when I know what an incredible big part of my life you were, and what a big part you continue to be of who I am. I find you when I slow down in my busy life. We meet in the car, we meet on your memory benches, we meet on walks, and often there are the most unexpected triggers. 

I wanted to let you know that I had a very inspiring conversation with one of you mitochondrial doctors recently. After they discovered your gene mutation CARS2, researchers around the world have discovered several mitochondrial diseases in your family of genes. Your gene family is prone to mitochondrial disease. I remember the day as if it was yesterday when your Belgian researcher wanted to do a full gene exome sequencing on you. It was still expensive, and insurance companies resisted to pay. Your doctor had received a grant to test five families he thought he could diagnose. He had picked you. He had picked our family. He told us that the chance of diagnosing you would not be an easy task. He just knew you had mitochondrial disease. He just didn't know if he could prove it. As we gave our blood samples, I remember thinking that this was maybe just another step of many keeping you in the category of "probable mitochondrial disease". 

Bingo! They found your gene mutation. I remember your mitochondrial doctor and neurologist being so happy. They had found a new gene causing mitochondrial disease. It didn't really change anything for us. We were already doing everything we could to treat your symptoms. It still gave us some sort of comfort. The puzzle was solved. Another piece of comfort was that we could test Sarah, and finding out she is not carrying a bad copy of CARS2. This disease will stop with you in our family, sweet Jacob.

I found out your Belgian doctor has taken an interest in your specific families of mitochondrial disease. He thinks he can actually find a treatment. A treatment for a disease without a cure is a big deal. It's something I just never thought I would live to hear for kids like you, Jacob. The funny thing is that the treatment is something you didn't tolerate well. In fact, it triggered seizures in you. I didn't get all details, but I am very much looking forward to having this conversation with your Mito doctor to find out more details. 

Having lost you, it's with mixed feelings I hear big words about treatments. If you only had kept on living for a little longer. At the same time, it gives a lot of meaning to your life. Your diagnosis led to more diagnoses, which in return led to more understanding of this family of mitochondrial diseases. Your brilliant researcher is seeing a pattern thinking he might be able to fix this - all starting with a blood sample that none of us thought for sure would lead to a new mitochondrial disease.

Science is moving faster and faster. You were seven years old when you got your firm diagnosis. Seven years of not knowing for sure. Today, babies are diagnosed within their first week of life. Parents googling mitochondrial disease as they have not yet left the hospital after their baby's birth. Parents looking at their perfect babies wondering what organ failure, muscle weakness, fatigue, and seizures have to do with their beautiful babies.

With genetic testing rapidly moving forward, there is research happening around if parents and patients want or not want to know their diagnoses. Sequencing all genes today is not a big deal. You are no longer a family needing to be picked. Do we want to know what might or might not happen to our perfect baby? Do we want to know what is going to happen to us in five, ten or thirty years? 

It's an important question discussed over cocktails. There is no right or wrong answer. I was thinking about our journey, knowing that I would never have wanted to know everything that would happen to you in your ten years of life your first week of life. Your first week of life I was sleep deprived, but full of joy, happiness and hope. I took you for walks in the neighborhood. I fed you around the clock. I dressed and bathed you, and had never heard the word mitochondrial disease. You perfected our family. I got to hang on to the illusion of a new healthy baby for two and a half precious months. I am so very thankful for that time.

As you started showing symptoms, I absolutely wanted to know. It hurts to be a mom not knowing. That is where today's technology can give answers  and knowledge to families faster. The question is if you want to know the big diagnosis as your child is not yet showing symptoms? None of us could answer these questions with a yes or no over wine and vodka. Both sides can be argued.

I think deep in my heart for a long time I was hoping you would prove all doctors wrong. You would prove them you were not sick. But as the symptoms kept piling on and hospital stays got repeated, a diagnosis got you the adequate care and considerations necessary to keep you alive.

I am amazed with how fast science is moving. How much we're learning, and that the word treatment is used in the same sentence as your disease. In the middle of my own grief, I feel so incredibly proud that you, Jacob, helped to move science forward. It hurts and warms my heart at the same time, Jacob.

As I think about these things, fascinated by the resilient researchers not giving up, it gives me a little comfort that your own life contributed to this path we're on, making life better for your mitochondrial buddies.

Jacob, I love you to the moon and back,

mom.