Tuesday, January 27, 2015
I've spent every day of 2015 worrying about my son (and now sons), even more than usual. We've "started over" after taking a break from therapy, doctors, specialists and appointments overall. We're starting over with therapy and are getting fresh evaluations at Baylor over the next few weeks. We started over with a new geneticist and the genetics team at Children's in Dallas. And we started over with the tests. Although I feel somewhat guilty about it, I got to put on the blinders over the past 6 months, let my son be a kid and pretend that everything is fine. It's been a half year of sweet oblivion and I'm already missing it.
We made our first trip to the genetics department at Children's in the first few days of the new year. We spent several hours with counselors and doctors, all of them asking every question imaginable and going over every inch of our son with a fine toothed comb. At the end of the appointment, they came in with a few pages of information and told us they believed our son may have Sotos Syndrome. Of course we'd never heard of it and knew nothing about it. She gave us a few details, then told us that there is a blood test to confirm, but that it's terribly expensive and it was unsure if our insurance would cover it. One look between us and we knew we would be having that test regardless of the cost. We asked that they continue working with insurance, but we wanted the test, and now. An hour later, we were in the lab with our sweet boy, where we'd start over with needles and tests and pain. It's easy to forget how tough your kid is in all the ways you wished you didn't know. He watched the needle go in his arm, gave a little moan and looked at me for help, then just watched her draw blood without another sound. He's our little warrior.
After researching it on our own, we really felt that Sotos wasn't a fit for Torsten. There were so many things that just didn't fit - off the charts large head, extremely tall and high on weight charts, high birth weight and specific facial anomalies to name a few. His head has always been big, but never off the charts. And he's always been low on the charts for height and weight. He was an average sized baby at birth and the facial anomalies that identify SS kids weren't present with Torsten. However, I didn't want to be the parent in "denial", so I kept an open mind while waiting for the test results.
They said the results would take 4-6 weeks, but we got them in 2.5. They were negative. I called our parents, did a little happy dance and we celebrated with a bottle of wine. The counselor who called gave me the name of what they now believed Torsten had, so I made a note of it, told her I'd look into it that night and that I'd call her the next day if we decided we wanted to move forward with the next round of testing. For a few hours, we enjoyed the great news and celebrated that we got a negative test result.
Once we finished dinner and got the kids to bed, we began researching the next possibility, Pallister-Killian Syndrome (PKS). I sat on the couch with my computer while Ryan sat in the chair next to me on his. Barely a word was said for several hours while we both soaked up as much information about this chromosomal abnormality. Not long into our research, it was becoming apparent to us both that this diagnosis fit our son. It really fit our son. Several hours, plenty of tears and tissues later, we called it a night and decided that we would move forward with the next round of testing immediately.
Unfortunately, the test for PKS is not a simple blood test. A skin biopsy will be performed by the doctor herself this Thursday at Children's. They have to cut a small bit out of the back of his arm, send it off for tests and hopefully have results in 2 weeks. Until then, and hopefully after the results as well, our son is just Torsten. There are no other names or labels that apply at the moment and I've decided to enjoy that for as long as I can. The best news we could receive would be that he is just behind. He's had multiple surgeries and has always had a hard time catching up. Even if it's just me being in denial, there's a chance that I'll only able to deny it for a little while longer. Until further notice, I'd prefer to keep the blinders on and pretend that everything is fine. I hope the next time I'm writing, it's to say that everything IS fine and that Torsten is starting therapy and preschool soon. Until then, I won't quit hoping.
I've spent every day of 2015 worrying about my son (and now sons), even more than usual. We've "started over" after taking a break from therapy, doctors, specialists and appointments overall. We're starting over with therapy and are getting fresh evaluations at Baylor over the next few weeks. We started over with a new geneticist and the genetics team at Children's in Dallas. And we started over with the tests. Although I feel somewhat guilty about it, I got to put on the blinders over the past 6 months, let my son be a kid and pretend that everything is fine. It's been a half year of sweet oblivion and I'm already missing it.
We made our first trip to the genetics department at Children's in the first few days of the new year. We spent several hours with counselors and doctors, all of them asking every question imaginable and going over every inch of our son with a fine toothed comb. At the end of the appointment, they came in with a few pages of information and told us they believed our son may have Sotos Syndrome. Of course we'd never heard of it and knew nothing about it. She gave us a few details, then told us that there is a blood test to confirm, but that it's terribly expensive and it was unsure if our insurance would cover it. One look between us and we knew we would be having that test regardless of the cost. We asked that they continue working with insurance, but we wanted the test, and now. An hour later, we were in the lab with our sweet boy, where we'd start over with needles and tests and pain. It's easy to forget how tough your kid is in all the ways you wished you didn't know. He watched the needle go in his arm, gave a little moan and looked at me for help, then just watched her draw blood without another sound. He's our little warrior.
After researching it on our own, we really felt that Sotos wasn't a fit for Torsten. There were so many things that just didn't fit - off the charts large head, extremely tall and high on weight charts, high birth weight and specific facial anomalies to name a few. His head has always been big, but never off the charts. And he's always been low on the charts for height and weight. He was an average sized baby at birth and the facial anomalies that identify SS kids weren't present with Torsten. However, I didn't want to be the parent in "denial", so I kept an open mind while waiting for the test results.
They said the results would take 4-6 weeks, but we got them in 2.5. They were negative. I called our parents, did a little happy dance and we celebrated with a bottle of wine. The counselor who called gave me the name of what they now believed Torsten had, so I made a note of it, told her I'd look into it that night and that I'd call her the next day if we decided we wanted to move forward with the next round of testing. For a few hours, we enjoyed the great news and celebrated that we got a negative test result.
Once we finished dinner and got the kids to bed, we began researching the next possibility, Pallister-Killian Syndrome (PKS). I sat on the couch with my computer while Ryan sat in the chair next to me on his. Barely a word was said for several hours while we both soaked up as much information about this chromosomal abnormality. Not long into our research, it was becoming apparent to us both that this diagnosis fit our son. It really fit our son. Several hours, plenty of tears and tissues later, we called it a night and decided that we would move forward with the next round of testing immediately.
Unfortunately, the test for PKS is not a simple blood test. A skin biopsy will be performed by the doctor herself this Thursday at Children's. They have to cut a small bit out of the back of his arm, send it off for tests and hopefully have results in 2 weeks. Until then, and hopefully after the results as well, our son is just Torsten. There are no other names or labels that apply at the moment and I've decided to enjoy that for as long as I can. The best news we could receive would be that he is just behind. He's had multiple surgeries and has always had a hard time catching up. Even if it's just me being in denial, there's a chance that I'll only able to deny it for a little while longer. Until further notice, I'd prefer to keep the blinders on and pretend that everything is fine. I hope the next time I'm writing, it's to say that everything IS fine and that Torsten is starting therapy and preschool soon. Until then, I won't quit hoping.
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