Saturday, May 5, 2012


Yesterday, it was time to see Dr. E. It was a follow up from Jacob's hospitalization. She thought he looked good, not great, but good. We take that considering that Jacob is still fighting pneumonia and pseudomonas. Tomorrow, is the last dose of the IV antibiotics! Yeah!

Dr. E. said that Jacob's Mito doc wanted to see him as well. She didn't want to spell the beans, but we could see that she was excited as she called him to come down and see us.

The news is that they have found the gene that is causing Jacob's Mitochondrial Disease! It is the first case in the world, so this will be a new Mitochondrial Disease within the family of Mitochondrial Diseases. It has been confirmed that Joakim and I both have a bad copy of this particular gene as well as Jacob having two bad copies of it. Bingo! Wow, who would have thought that would ever happen???

The clue came from the fact that Jacob's Mitochondrial Disease stems from a translation error. His body can't take the mitochondria and translate it into protein. This narrowed down the genes to look for, and they found the magical gene!

His Mito doc was really excited, and said that "now we only need to prove it!". They will do so by taking Sarah's DNA. She will give a sputum sample this coming week, and if she has no bad copy of this gene or one copy of this bad gene - it is confirmed. If she has two bad copies of this gene, they are back to the drawing board, but it doesn't sound like they are expecting this to be the outcome. This would mean that Sarah would have the same Mitochondrial Disease as Jacob, which is very unlikely considering that she is completely healthy.

Due to this being a new disease, Jacob's Mito doc couldn't even tell us which gene we are dealing with. He said that if this becomes common knowledge, someone else will try to replicate it before him. We have been asked to send a picture of Jacob, so that it can go with his papers and publications he will now work on. He will also try to replace the bad gene with a good gene. He said that it is complicated due to the gene we are dealing with.

This discovery might not change Jacob's future, but it will definitely be one more thing that Mitochondrial patients can be tested for. And who knows, maybe one day the bad gene can be replaced with a good gene? I am trying to not get my hopes up, but of course, there is a little tiny hope in me :-

And what will the name of this disease be? Who knows? For us, it will always be the Jacob Gene.

Happy Saturday to you all!

Much love,


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