Friday, February 28, 2014


Today is International Rare Disease Day. Today is about raising awareness for rare diseases in the world. Our boy fits the category spot on. He is the only one in the world with his specific Mitochondrial Disease. There is nobody else out there like our boy. Jacob's mitochondrial doctor and researcher has been searching all over the world for somebody else with the same gene mutation like Jacob, and there is nobody out there - so far. When the test becomes available and other Mito patients can be tested, there will most likely be other cases popping up. But one thing is clear. This is a super rare disease stemming from the fact that both Joakim and I have a bad copy of this particular gene. Jacob unfortunately got both of our bad copies. Sarah got none. If you have one bad copy, you can live a healthy life. Two bad copies, you will live with a Mitochondrial disease impacting primarily your brain and liver. This particular Mitochondrial disease has most similarities with Alpers syndrome of all Mitochondrial diseases commonly known.

There is a sense of closure when you know your child's definite diagnosis. The complex medical puzzle is finally solved. Some worries and unanswered questions can be put to rest. For us to know that Sarah never has to worry about being a carrier of this particular disease is a relief, something Sarah can't fully grasp  today. It gives you a belonging in your special needs' community. There is a special bond between us Mito families. It is crazy the facial similarities between Jacob and many of his Mito buddies. They could be his brothers and sisters, if you simply went by looks. A definite diagnosis doesn't change Jacob's past or current life, most likely not his future life. Knowing the gene can't reverse the damage the disease has done to Jacob's body. Knowing the gene won't reverse any beliefs we have around what quality of life means for our boy and what we will do each day to make him have the best life possible.

To know that the finding of this particular disease can help other Mitochondrial patients in the future gives me hope. The ultimate hope living in the world of rare diseases is that the researchers can find that cure. Make the rare not so rare any longer.

And in my world of rare, I got to spend time today with several brave parents having children with a variety of rare diseases. Parents who are all strong advocates of their children. I got to hug a friend whose son is very sick in the PICU today. The best part of the day was to see my rare beautiful boy wake up this morning, so happy to start this day. The next best part was to give him kisses on his forehead until he drifted off to dream land tonight.

Rare is indeed beautiful.

Love, Maria.

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