Today, I feel like this is an appropriate title for the journey I'm walking. Today started off raining... only to turn into monsoon rains as I drove Kai (and Thayne as our guest tag along!) to Charlotte in the still dark hours of the morning. As the rains picked up and my car speed slowed even more, I continued to sing along to my music as I remained hopeful about today's dr appt. It seemed like it was just going to be a good one, since I'd been waiting on an appt with the neuro-muscular geneticist since Dec.2011, and they had FINALLY had an opening come available for Kai to get in. It's a HIGHLY specialized field, with only 3 doctors in all of NC specializing in this, so getting in to any of them was supposed to be a year, if not more, wait. I had got a call 2 wks ago saying they had an opening for today, so I jumped at the chance and made it happen. Well... I should have learned by now not to get so hopeful, because if I don't go in too hopeful, then I won't be so frustrated and disappointed when it's all over. But apparently I have yet to learn my lesson. So I was hopeful. We arrived right on time, and we were quickly taken back to our room to meet with a genetics counselor. She was very sweet and talked highly of the "new dr" that we were about to meet. I didn't think much of her comment about the "new dr" because I just figured she meant "new" to us, so we continued on for an hr, going over, for the 10000000x, Kai's history, our family history, tests that have already been done and their results, symptoms, etc. Then, the dr comes in. She begins by introducing herself, and then asking me why we were refferred to her. Still being hopeful, I told her our muscular geneticist had referred us, thinking Kai would greatly benefit from meeting with a Neuro-muscular genetics specialist and getting the expertise of their wealth of knowledge in this field. Then I got stabbed. She states that she's just a geneticist. Apparently the scheduling dept made an error when they called and bumped up our appt, and instead of keeping us w/ the same neuro-muscular genetics specialist we were scheduled to meet with in Dec.2012 (ONE full year after the appt was originally made!), they had switched us to her... which is the exact same specialty as our team of already awesome drs here at Duke. Then, she proceeds to tell me that she doesn't agree with the findings of the tests that Duke has done, and she would like to see them re-done from a different highly specialized test series that is done by only 1 lab in the entire world. She wants us to re-do the tests in the Ataxia Panel... and for those of you who have followed Kai's story... that's the test that the lab re-drew blood for 2x and then "threw out" without notifying us after 6 months because they didn't have enough DNA and didn't want to combine any more samples for the same test. She continued to say that "there's no real rush for the testing, because no matter what, it's something that can't be cured and so we're just going to have to deal with it, so knowing what it is will help us deal with it and may be able to get us closer to a medication that could possibly help, but there will be no cure so there's not an urgency on test results." Talk about a dr with no bed-side manor, and who obviously doesn't have kids of her own because I'm pretty sure if she did, she'd have an ounce of compassion in the choice of her wording. But there was none of that for sure. She then continued to say that she still feels that Ataxia Telangiectasia and Friedreich's Ataxia are still very strong possibilities (if you read any of the old notes... you will remember we celebrated these being ruled out! Yep, she doesn't agree and feels that the tests weren't totally accurate). I'm not really sure what all she said after that, because I was too much in shock trying to process all the stabs and kicks she had just laid on me. I do remember asking her "then what next?" Her answer... wait. Wait for the tests of the exome sequencing that are still pending, then draw for the Ataxia panel again, and wait some more (another 6-8 months for results from that). She said if I really wanted to do something else, take Kai to a childrens specialty center that was highly specialized in the neuro-muscular genetics field... which there is only 4 in the world.
Yep... so that's how the appt went. Only to return another 4 hr drive in monsoon rains and tornado sirens blaring to get home to wait...
Right now, I'm not quite sure what I'm waiting for. Answers would be awesome, but I can't hold my breath for those because after 3 yrs of waiting, I've learned now that I can't do that. Life is today. One hour at a time. So I guess I will wait... I have no other choice. But I am determined to just take today for what it is... I will appreciate the things my Kai CAN do... his laugh, his cute grown up front teeth that make his smile so contagious, his determination, his will to fight, his incredible patience going from test to test and dr to dr, his love for his siblings (sometimes), his 110% boy spirit of adventure and attitude. I'll take today and appreciate that, and try not to look to tomorrow.
Thank you for your prayers. Thanks for the encouragement, support, texts and e-mails, your meals... I'm incredibly blessed to have the family (immediate and extended!!) and friends I have who are willing to love me in this storm. I feel like the clouds are hovering... sort of like they did today. But as I drove home tonight after a few hours of TaeKwonDo with my kiddos, I looked up to see a beautiful clearing way off in the distance that still had the reflection of the sunset in it. I'm going to hang on to that ... knowing a storm can't last forever.
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