In the middle of everyday busyness, the gene that is causing Jacob’s Mitochondrial Disease is confirmed. Sarah’s DNA was the final puzzle piece. Joakim and I both have a bad copy of this gene. We each gave Jacob our bad copy of this particular gene. Sarah on the other hand didn’t get any of our bad copies. It is a 25% chance of each scenario. The most likely scenario (50%) is that our kids would have gotten one copy of the bad gene. So, what does this all mean?
For the future of Mitochondrial Disease research, it is a big discovery. This is the first time they have found a bad copy of a gene in this type of Mitochondrial translation error that Jacob has. The hope is that when they have the gene test available, they will be able to identify a population of patients with this particular Mitochondrial Disease. This should help with further research, and hopefully better treatments and management of these Mito patients.
For me personally, it gets me thinking. This could be the beginning of better treatments for patients like Jacob, but will it be here in time for Jacob? My gut feeling tells me no. I sincerely hope I am wrong, but research does take time. What warms my heart is that Sarah never has to worry about giving birth to a child with this particular Mitochondrial Disease. This means that our possible grandchildren will be healthy. It also means that anyone in our families –both Joakim’s and mine – can be tested by the end of this year to find out if they are a carriers of this gene. You start to wonder. Does the gene come from our dads or moms? Could it possibly impact other future children in our families?
When my mind wanders off to wondering what people will do when they take this test in the future, I can only thank my lucky star that there was no test for us and Jacob. Don’t take me wrong. I would never in my life like Jacob to have this disease that impacts him on so many levels of his life. But at the same time, I can’t imagine my life without Jacob in it. I feel blessed that I never had to make an educated decision, but that I simply got to embrace Jacob as he is for who he is.
My last post “what I would tell myself” (http://www.miraclesformito.org/default.aspx) resonated with many of you who follow my blog. You told me how Jacob has impacted your life. I wanted to share what Jacob’s nanny wrote me after she read that blog post. She shared that day with me almost exactly 6 years ago.
Of all the memorable days that I had when I was your nanny, both the ups and downs, the day you wrote about in your post is one that really stuck with me. I can still hear the heartbreak in your voice when you told me that they had found an issue in Jacob’s brain. I remember going home to Justin that night and just crying over how unfair it was for this to happen to your family and especially to sweet baby Jacob who I already loved so much.
As you know better than anyone, caring for Jacob taught me so many things and really changed the value I placed on even the simplest things in my life. But Jacob and your family gave me one other really special gift that I did not even realize until recently. As you know, Landon was a completely unexpected gift… aka oops-a-baby. So in that moment when I was looking down at a positive pregnancy test, I had a full on panic attack. I was so worried about all the things in my life that were not baby ready yet… finances, my career, our apartment, and maybe even our marriage. But almost in the next moment, I thought about Jacob and that exact day that you talk about in your post.
I am sure that if I told someone, even Justin, that I started thinking about Jacob the second I found out I was pregnant, they would assume that I was worried about health concerns. But that is not it at all… Thinking about Jacob and the strength of your family is actually what pulled me out of my panic. Suddenly it did not matter what challenges were down the road. I knew that we would adjust and be able to handle it, because we would love our child unconditionally. I knew this fact with soul soothing certainty, because I had seen it in action every day when I was with your family.
I will never be able to say thank you enough for letting me be such a special part of your family. I am so grateful for the time I spent with your children. Knowing Jacob taught me more then I even realized at the time. Love, Jen.
As you know better than anyone, caring for Jacob taught me so many things and really changed the value I placed on even the simplest things in my life. But Jacob and your family gave me one other really special gift that I did not even realize until recently. As you know, Landon was a completely unexpected gift… aka oops-a-baby. So in that moment when I was looking down at a positive pregnancy test, I had a full on panic attack. I was so worried about all the things in my life that were not baby ready yet… finances, my career, our apartment, and maybe even our marriage. But almost in the next moment, I thought about Jacob and that exact day that you talk about in your post.
I am sure that if I told someone, even Justin, that I started thinking about Jacob the second I found out I was pregnant, they would assume that I was worried about health concerns. But that is not it at all… Thinking about Jacob and the strength of your family is actually what pulled me out of my panic. Suddenly it did not matter what challenges were down the road. I knew that we would adjust and be able to handle it, because we would love our child unconditionally. I knew this fact with soul soothing certainty, because I had seen it in action every day when I was with your family.
I will never be able to say thank you enough for letting me be such a special part of your family. I am so grateful for the time I spent with your children. Knowing Jacob taught me more then I even realized at the time. Love, Jen.
I know Jacob will help to write a piece of Mitochondrial history. He will contribute a piece to future medicine and research. But more importantly, Jacob will continue touching lives. That is important to me.
Much love,
Maria.
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