When Plans Change

After the whole 5 weeks of trying to get Isaac into a day treatment program, I had gotten all these other things set up. I found a medication manager, outpatient therapist, horse therapy we could afford because insurance doesn't cover it, but they will reimburse us with our own money, a veterinarian internship, and constructed a level system for our family to help with discipline. Just after I dotted the last i and crossed the last t, I got a phone call that Isaac had been approved for day therapy, we were awarded financial aid, and he started the following Wednesday.

Begin hair pulling now.

While I was initially upset about it, albeit glad that he got into day therapy because that is what he ultimately needed, I was still angry. Now I had to call and undo all these things I had just lined up.

Have I mentioned the torrent of emotions you have when you are stressed to the max?

I kept hearing a voice in my head say, "Everything happens for a reason. Be patient and see how this plays out."

So I took a deep breath and waited. Isaac had two major appointments the week he started day therapy. One was with the medication manager. The week before was with the therapist. These two people both told me I wouldn't be able to use them for Isaac's treatment because there would be people available at the treatment facility that would take that over for the duration of the therapy, however, (HOWEVER), I could come back to them after the treatment program ended. Essentially, before you let your blood boil over, it's ok, we will just take a 3 month break and you can come back. All that work wasn't for nothing! I was assured the day therapy people would be happy we already had our outpatient people lined up. And they were.

Wednesday we admitted Isaac to day therapy, and this was a 3 hour process. We met with a therapist, medication manager, teacher, and nurses. We told our story for the fourth time in 2 months (it's not a short story either).  Isaac is supposed to be in the day therapy for 12 weeks. This is from 8-5 M-F. It's not far from Curtis' work and he will drop off and pick up.

Because Isaac was admitted in the last two weeks of school, he received an incomplete for 9th grade. We were supposed to enroll him in summer school, but because we were told he would be in day therapy and to not worry about it (they do school every day there), I didn't sign him up. Then the summer school enrollment date passed, and the day therapy looked like it was going to fall through, so I started to panic about what we were going to do for his grades and if he could go onto 10th grade. I called the school district special ed director, and he gave me some options.

1. Isaac could just make up the credits in future summers.
2. Isaac could have an elective slot through the year in which he worked on these packets for credit recovery.

As it turned out, the facility notified his last school, and they contacted me, and they will get it set up for Isaac to finish his missing assignments and not have to do credit recovery. He will be able to do his schoolwork at the facility, and in the fall, he will continue with them online, making a seamless transition to 10th grade. I panicked for nothing.

Another wonderful thing happened. Because Isaac has multiple diagnosis: cerebral palsy, 22q11.2 (22nd chromosome duplication), ADHD, possible Autism, and now a mood disorder (they told us they aren't sure if he is bipolar or if this is a mood regulation issue), they are going to have a diagnostician try to piece some stuff together for us and fill in the gaps in hopes of telling us what symptoms belong to what disorder. On top of this, we are testing for intellectual disability. Some of his previous testing was inconsistent and  there were huge gaps between test scores and abilities.

Answers!!

All of this finally came together and Isaac is getting help he desperately needed. We are working with 10 different people in different places to get him the therapies and supports he needs. It's been a fight and an uphill battle to get this point. I feel like I finally got to the top of the mountain and I just want to camp up there awhile. I don't think Curtis realizes just how much relief I have that he is responsible for taking Isaac to and from therapy. I don't think I quite realize it.

Our past two days were easy. It helped that our van battery died and we have no where we can go, so no errands, no trips, no running to and from appointments. We just hung out at home, visited with my aunt that came to visit for one very short day, and made picnic food and took naps. Isaac had really good days at therapy, and the first night home was rough, but the next two nights were great. I need to focus on how to get my energy levels up again, but I still feel like I'm decompressing. Everything seems to be falling into place.

I have been reminded that my time schedule is not God's time schedule, even if I try to change it, or force it. I'm also reminded that this time of help and support came at the most important time. While it's been a struggle over Isaac's life to deal with these disabilities and behaviors, he is old enough and capable of learning how to deal with them and learn to care for himself, and I'm at a point that I can let him do it, as well as understand that I need more people to help him, that I can't do all this on my own. That has been a big lesson for me to learn.

Isaac and 22q11.2 Duplication

This year we entered into genetic testing. The infographic at the side of the blog talks about the road to genetic diagnosing. 7+ years to get a result was actually 15 years for us. And misdiagnosis was more than 3 for us. In the fall of 2013 we entered the school year with 4 IEP's on 4 kids, and I told our family doctor I wanted to seek out official diagnosis for the kids, mainly, 4 of the 5 boys. We started at Primary Children's Hospital for psychological evaluations, and from there we were propelled to Neurology, and from there, Genetics. 4 months of non-stop appointments at clinics and hospitals all over Utah valley finally got us some answers.

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.









 

You Have Arrived

Motherhood.

It was going to be my dream job.

I was prepared. We had a cradle, clothes, crib, carseat and diapers. Even though labor had been 36 hours long and I was exhausted, I was thrilled to be a mother. Never mind the weird tongue thing he was doing, or the spastic movements. Never mind he couldn't breastfeed (he'll catch on eventually). Never mind the huge bruise in the middle of his forehead (should I be worried?). I had my precious baby, and he was perfect. Blond peach fuzz hair, big brown eyes, fat little hands and rosy cheeks. He was beautiful.

I didn't really know things were a little off kilter until my first son, Isaac, was about a year old. He wasn't talking, walking, had just barely learned to crawl, wouldn't sleep during the day, and choked on food constantly. I had been concerned at 4 months when all emotions seemed to shut down. He didn't smile, didn't babble, took longer and longer to respond to us playing with him. He was constantly sick, and had constant ear infections. Back then, when the internet was booming with information and baby boards, I mentioned my concerns that Isaac wasn't hitting his milestones like all the other babies. Imagine my defeat when one of the responses to my questions was, "I feel sorry for your son because YOU are comparing him to all the other kids and won't let him be an individual." Since the doctors didn't seem concerned when I brought this stuff up to them, I thought maybe I was being an overly concerned first time mother. At 13 months old they put tubes in his ears to clear up the constant infections. About a month later he started walking, but by 18 months he still wasn't talking. Again, nobody seemed very concerned. We just kept living life. 15 years later that comment is still with me. Sometimes I have a bit of pride with it, as in, I'm glad I continued to push and recognize that Isaac was delayed because we eventually had therapies and answers we wouldn't have gotten had I dumbly cowered away. Another favorite: "He doesn't LOOK like there's anything wrong with him." I found myself envying parents that had severely disabled kids, wheelchairs, feeding tubes, tracheotomies, and missing limbs, because at least people KNEW their kids were disabled and no explanation was needed. Parenting kids like this skewers your thinking. Nothing seems rational or logical. You don't always have the answer why (which drives me batty). You start to loose patience, and then you isolate yourself. There are always worse stories than your own, but then you feel guilty because you actually said, "Well, things could be worse."

Eventually we added six more kids to our family, and along the way, faced so many other challenges with Isaac, and eventually, some of our other kids. As diagnoses poured in, we kept on going, adapting, moving, trying out some new things and some old things. Our list grew:

ADHD
Low Immune System (constant RSV, pneumonia, bronchitis, pleurisy, and sinus infections)
Autism
Aspergers
Oppositional Defiant Disorder
Schizophrenia, Bipolar, Depression, Anxiety (some dismissed, some added)
Traumatic Brain Injury (6)
Allergies (medication and foods)
Learning Disabilities
Processing Disorders
Cognitive Disorders-not otherwise specified
Sensory Integration Disorder
Dyslexia
Pectus Excavatum (and corrective surgery: NUSS procedure)
Ear Tubes
Cerebral Palsy
Nerve Damage (birth, brain injury)
Skull, Arm, Leg, and Finger fractures
and finally, 22q11.2 Duplication (Genetics! Haven't been there yet!)

We had CPS called on us 3 times. Each of the cases were dropped because they recognized the medical issues and where we were at for getting treatment for the kids. I tried to be understanding, and CPS social workers were understanding, and that is when I realized that we don't live a normal life. We live a different life.
While most of my friends are living out their dream in Italy, I have arrived in Holland. It's still a beautiful place, yes, but it's not what I expected, and it is just different. It took us 15 years to get a final diagnosis on Isaac. 22q11.2 Duplication.

Except 22q11.2 Duplication is so rare, so new, it doesn't even have a name yet.

My motherhood is exhausting, relentless, and honestly, very far removed from what I expected motherhood to be like. I still love it. I'm so very grateful for the kids that have come into our family. In the good moments, our life is beautiful and fun and happy. In the bad moments, our life is medications, doctors, meltdowns, yelling, and overwhelming. In the quiet moments, I have clarity and assurance that these are the kids meant for us, that me as their mother and they as my kids could not have been matched any better way.

In between all this, we live the normal life: laundry, dishes, meals, cleaning, clogged toilets, doing homework, running errands. Our future isn't so clear anymore. My boys may not graduate at 18, they won't serve traditional church missions, they may not live independently. So, we just live day to day, because that is predictable, that is sure, that is comfortable.

Even after all this, Motherhood is still my dream job.

Welcome to my blog. I would love to hear your stories too! Thanks for reading!