It is time for me to close this chapter of the story. The new specialist that I mentioned in my last post was the one that would hold the last piece of the puzzle for us. This one significant trip to see doctors less than three hours away would be the turning point. God allowed them to recognize symptoms of a specific chromosomal abnormality, 22q11.2 Deletion Syndrome or Velocardiofacial Syndrome or DiGeorge Syndrome (they are all pretty much the same thing). When I first looked up a little basic information on the syndrome I was shocked that EVERY SINGLE thing that has been an issue from the day she was born was on the list. I have done many, many internet searches over the years, with every combination of her symptoms, and had never heard of this syndrome. It has over 180 known manifestations and complications. It can affect every system in the body. She had thirty or so of the issues when we went down the list. That's about typical, from what we read. We waited for a very specific genetic test to be done, and two days before her seventeenth birthday we had our answer. Our baby girl had been born with a special edition, designer chromosome. Her 22nd chromosome is missing one tiny little band of genetic information.
After years of wondering why so many things would go wrong with her, why she was the one with all of these issues, we had our answer. This was the first time that God answered a prayer in a way that broke my heart. This diagnosis would mean that no magic pill would ever fall from the sky and fix everything. There was something so profound and final about the diagnosis for me. It meant that this is how she was fearfully and wonderfully made. Her issues weren't by accident, some unexplained phenomenon. It was a lot for me to absorb. I'm still absorbing.
I can now tell you what's good about having this diagnosis. It means that if another issue pops up, her doctors will have a starting point in treating her. She won't be an experimental project for them any longer. It also changes some of her diagnoses, she doesn't have the super scary Polychondritis. That's a big one. The rheumatologists ruled that one out. She doesn't have Ehlers Danlos Syndrome, she just has super stretchy joints from the 22q. She does still have Sjogren's, however it is in some sort of pseudo remission, and isn't actively attacking her body right now. That is a good thing. She is off all steroids and everything that was suppressing her immune system. She has been seen by a cranial facial surgery team and is being treated very effectively by a neurologist at a movement disorder clinic. She has begun to live a more "normal" life. If there is such a thing. "Normal" could still walk in the room and slap me in the face, and I still wouldn't recognize it. That's how we like it.
So, why did it take almost seventeen years to diagnose the second most common chromosomal abnormality after Down's Syndrome? From what we have experienced since she received the diagnosis, most doctors aren't the least bit familiar with 22q Deletion Syndrome. Seriously. I carry around brochures about the syndrome to give to anyone I happen to come across having anything to do with the medical field. I hate to think that there are other families out there on the same ridiculous merry-go-round that we rode for so long, waiting for answers. I don't fault any doctor that missed it, because that's just the way it is. I want to see that changed. Yesterday.
One thought that has given me peace is that had we known of this diagnosis at her birth, maybe I wouldn't have pushed her to learn. It took two summers of hard work for her to learn to read. I would like to think that I still would have worked with her so hard, but I don't know. God decided that this was the time, and I'm thankful to finally have the answer. We learned a lot about His power and grace during some really difficult times. There will surely be more of those times, but we know that He will see us through.
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