To get to that point though was me being a huge squeaky wheel. From the pyschological evaluation they saw fire-starting. This lead them to think he had Klinefelter's Syndrome, which is when a boy (all male parts, identifies as a boy) has an extra X chromosome (XXY). The drive home from that was horrible. Isaac: "You mean I'm going to grow boobs?!!? I don't think so!!" Turns out, the test was negative. I still don't get how the fire-starting equals Klinefelters.
I pressed our family doctor to test him for Fragile X syndrome. Negative. They tested him for a kidney disease, can't remember which one, but he had never had a problem with his kidneys. That was negative. They were left with nothing else but to run a $4000.00 genetic micro-array test. Then they found something.
They called us back to the office to give us the news. I was panicking. While this was exactly what I wanted, I was terrified to find out just what it was. Would this diagnosis be the end all, be all and we could just go skipping through spring meadows and singing all the way? I sort of romanticized it. I kind of thought there would be cookies and milk in the end.
Here's the conversations:
"We found a duplication on the 22nd Chromosome."
Blank stare from Isaac and me.
"It's called 22q11.2 Duplication."
"What's the name of it?"
"There isn't a name."
Blank stare again. "What's the treatment?"
"There isn't a treatment."
"What's the things associated with it?"
"Everything Isaac has. Autism, ADHD, tremors (not Cerebral Palsy and not Parkinson's Disease, but looks like Parkinson's), small head. Yeah. Everything. Here's a handout."
"What do we do for it."
"Nothing."
I looked at Isaac. He has no idea. I have no idea. This wasn't exactly the answer I was hoping for. We don't even get a name for this. The doctor, a neurologist, had hunted down a geneticist who suggested we test for this, and so this poor guy had no clue and no time to really invest in a rare chromosomal disorder. He recommended we go see a geneticist that would tell us more (he didn't), and that was pretty much it for us.
In the car, we took a breath and all Isaac said was:
"At least I'm not gonna grow boobs."
All this build up, all this anxiety, all the YEARS we struggled, searched, treated, and cried, came down to a few numbers and letters and a disorder only figured out 10 years ago. It's so new only a handful of people have it around the world. It did give us some why's. Many of the kids with 22q11 Duplication have learning disabilities, Autism, ADHD, low immunity, growth delays, behavior issues, developmental delays, and unusual facial features. So we treat the symptoms. Medication for ADHD, anxiety, sleep problems, vitamins for immune system. Braces for teeth, physical therapy for low/high muscle tone. IEP's for learning disabilities. Today his eye exam revealed he has no 3D vision, has tracking capabilities of an 8 year old, and slow processing of information (both spoken and read, which we knew), and a second diagnosis for Dyslexia.
No, having the diagnosis didn't really change anything that we weren't already doing. It won't limit his lifespan. It won't cause more problems than we already know about.
When we got home that night I carried on as usual. Cleaning, cooking, laundry, putting kids to bed. Then I cried. What does this mean for our other kids with disabilities? Do they have this too? Was I irresponsible in having 5 more kids after Isaac if there was a possibility of genetic disorders being passed on? What did it mean for him later in life? Had I failed Isaac somehow? How did he get all these things to deal with, and why couldn't I fix it for him? What if.....what if.....All the resolve and bravery and motivation to carry on just left me. I didn't feel like I could do anything more, and those thoughts paralyzed me. I actually told Curtis, "I can't do this anymore." Do what? Live? Be a mother? Sweep the floor? What couldn't I do? Everything.
I crawled into bed exhausted and still crying.
The beautiful thing about sleep is it shuts everything off. The next morning life carried on as usual. Isaac was in a good mood. We worked on school, the day went well. Every time I looked in the mirror I saw misery and swollen eyes. I didn't want to look at Isaac and just see 22q11.2. I wanted to look at him and see my son, my baby, my young man that was now as tall as me. I finally asked Curtis for a blessing that night. I didn't want to go bed crying again. It helped.
Maybe we all go through a mourning phase and something I didn't realize is that there are multiple parts to mourning. I had anger. Why did it take so long for them to find this? I wanted to blame all the other doctors that had shoved us out the door while shrugging their shoulders. No one had time to investigate this. I blamed us for moving to rural Nebraska where, even though we didn't know it at the time, had very limited resources that would have helped us. I went into research mode. What does this mean for Isaac's future? What does this mean for us as parents that now parent a possibly life dependent child? I cried some more because gone were the hopes I'd had for Isaac. Slowly these things had been taken away over the years with the plethora of problems and diagnosis that came up, but that night, it felt like they were all gone. I wanted to know WHY and HOW this happened to Isaac and possibly my other kids.
Another week went by and other things came up, like Ammon's Poopocalypse, and the kids came down with some stuff, and we decided to paint the living room, and a shoulder injury. Pretty soon, I didn't see 22q11.2 when I saw Isaac. We joked and laughed and like a rubber band, all was normal again. I began to tell him he wasn't going to stay in school until age 21, that we will still plan for him to be a Veterinarian, and he can serve a Service Mission, to which he let out his breath like he had been holding it for years and admitted he was worried about serving a traditional mission because he knows his limitations and doesn't handle being away from home well. We set some goals and made some plans, small ones, but achievable ones, and charted out chores and how to take responsibility. We figured out how to do Scout Camp outs, talked with church leaders about his disabilities so that he was comfortable and felt like he could accomplish something. We reviewed his IEP and made some adjustments.
Some thoughts we had to change were, "You are 15 and should be able to do this", when the fact of the matter was, he isn't there yet. Someone told me a long time ago that Autism was a developmental delay, so it meant it will just take longer for them to figure it out. That has proven true over and over. Once we backed off, while not making it obvious, he didn't feel that pressure on him and stopped acting out. We changed some of his medications and that improved a lot of other areas for him, like hunger all the time, and sleeping more, and better control of his behavior.
Prayers work.
I love learning and education, so the more I could learn the better, and I sought it out. I wasn't going to just lay down and be steamrolled anymore. I found a small group on Facebook that was specifically for the 22 Duplication, another one for Rare Chromosome Disorders. I found some hospitals that are doing studies for these kids. I found some connections, as far away as Sweden, and there was comfort in that, that even half a world away, another mom was doing and feeling the same exact things I was. I researched all the stuff the 22 Chromosome does, plus others. I learned a lot of kids have other deletions and duplications on others as well. I learned about Trisomy (Isaac is .5 away from being Trisomy. Does that make any sense?). I learned about the effects of radiation, and global radiation, like Chernobyl and Fukashima. I learned more about problems with sleeping (low iron? low ferritin? melatonin receptors?), diet, and became thankful for the things Isaac didn't have, like feeding tubes, severe retardation, being non-verbal. Also, that at 15, nurses were exclaiming just how cute he was. Maybe that's their job, but it was compliment for both of us that lightened our day.
Everyday we learn something else about 22q11.2 and how it has affected many more things for Isaac. Dental exams reveal stuff, eye exams answer more questions. Asking a question like, "Do your kids have...." and getting an answer that yes, they do, is more like a check mark of acceptance than OMG that too?!
Isaac loves movies, so for as long as I live, I have a movie buddy. He loves being outside, so I will always have one kid that will choose running around outside over playing video games. Sometimes he has great insight and such a different perspective that we all feel like a great mystery was solved. He still gives me hugs and kisses without shame. He's still my kid, with all the wonderful, good parts about him and nothing has ever been taken away from him. Despite what my grieving mother's brain says, Isaac is still Isaac and he's fine, and happy, and willing to try new things and go on adventures, just not too far from home.
We still have bad days. Just like before the diagnosis, we just work through it, have an early night, and move on the next day. I gave myself a few days to wallow in self pity, but that wasn't going to serve any purposes in the long run. The only advice I can give to other parents on that is give yourself permission to have a pity party, just don't park there forever. Get permission from a friend if you can't give it yourself. You gotta move on.
Maybe we all go through a mourning phase and something I didn't realize is that there are multiple parts to mourning. I had anger. Why did it take so long for them to find this? I wanted to blame all the other doctors that had shoved us out the door while shrugging their shoulders. No one had time to investigate this. I blamed us for moving to rural Nebraska where, even though we didn't know it at the time, had very limited resources that would have helped us. I went into research mode. What does this mean for Isaac's future? What does this mean for us as parents that now parent a possibly life dependent child? I cried some more because gone were the hopes I'd had for Isaac. Slowly these things had been taken away over the years with the plethora of problems and diagnosis that came up, but that night, it felt like they were all gone. I wanted to know WHY and HOW this happened to Isaac and possibly my other kids.
Another week went by and other things came up, like Ammon's Poopocalypse, and the kids came down with some stuff, and we decided to paint the living room, and a shoulder injury. Pretty soon, I didn't see 22q11.2 when I saw Isaac. We joked and laughed and like a rubber band, all was normal again. I began to tell him he wasn't going to stay in school until age 21, that we will still plan for him to be a Veterinarian, and he can serve a Service Mission, to which he let out his breath like he had been holding it for years and admitted he was worried about serving a traditional mission because he knows his limitations and doesn't handle being away from home well. We set some goals and made some plans, small ones, but achievable ones, and charted out chores and how to take responsibility. We figured out how to do Scout Camp outs, talked with church leaders about his disabilities so that he was comfortable and felt like he could accomplish something. We reviewed his IEP and made some adjustments.
Some thoughts we had to change were, "You are 15 and should be able to do this", when the fact of the matter was, he isn't there yet. Someone told me a long time ago that Autism was a developmental delay, so it meant it will just take longer for them to figure it out. That has proven true over and over. Once we backed off, while not making it obvious, he didn't feel that pressure on him and stopped acting out. We changed some of his medications and that improved a lot of other areas for him, like hunger all the time, and sleeping more, and better control of his behavior.
Prayers work.
I love learning and education, so the more I could learn the better, and I sought it out. I wasn't going to just lay down and be steamrolled anymore. I found a small group on Facebook that was specifically for the 22 Duplication, another one for Rare Chromosome Disorders. I found some hospitals that are doing studies for these kids. I found some connections, as far away as Sweden, and there was comfort in that, that even half a world away, another mom was doing and feeling the same exact things I was. I researched all the stuff the 22 Chromosome does, plus others. I learned a lot of kids have other deletions and duplications on others as well. I learned about Trisomy (Isaac is .5 away from being Trisomy. Does that make any sense?). I learned about the effects of radiation, and global radiation, like Chernobyl and Fukashima. I learned more about problems with sleeping (low iron? low ferritin? melatonin receptors?), diet, and became thankful for the things Isaac didn't have, like feeding tubes, severe retardation, being non-verbal. Also, that at 15, nurses were exclaiming just how cute he was. Maybe that's their job, but it was compliment for both of us that lightened our day.
Everyday we learn something else about 22q11.2 and how it has affected many more things for Isaac. Dental exams reveal stuff, eye exams answer more questions. Asking a question like, "Do your kids have...." and getting an answer that yes, they do, is more like a check mark of acceptance than OMG that too?!
Isaac loves movies, so for as long as I live, I have a movie buddy. He loves being outside, so I will always have one kid that will choose running around outside over playing video games. Sometimes he has great insight and such a different perspective that we all feel like a great mystery was solved. He still gives me hugs and kisses without shame. He's still my kid, with all the wonderful, good parts about him and nothing has ever been taken away from him. Despite what my grieving mother's brain says, Isaac is still Isaac and he's fine, and happy, and willing to try new things and go on adventures, just not too far from home.
We still have bad days. Just like before the diagnosis, we just work through it, have an early night, and move on the next day. I gave myself a few days to wallow in self pity, but that wasn't going to serve any purposes in the long run. The only advice I can give to other parents on that is give yourself permission to have a pity party, just don't park there forever. Get permission from a friend if you can't give it yourself. You gotta move on.
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