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.
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.