Rare Disease Day 2017

Today is Rare Disease Day. It's celebrated the last day in February each year.

This is what I shared on Facebook today:

It's Rare Disease Day-a day designated to raise awareness for people affected by rare diseases. We never knee such a day existed until last year when we had a personal reason to celebrate and share. 

Why is it important? Hardly no one knows of Teddy's diagnosis. That means there's no research, no funding for research and no experts on this diagnosis-essentially no resources specific to his disorder.

The one resource specific to his diagnosis is our small group of other families affected by the same or similar PIGN mutations. The difference between being alone and bring connected to others is incredibly powerful. For that, I am grateful.

Someone asked a thought-provoking question, which I think is one of the best questions you could ask anyone about a diagnosis: What is his diagnosis, and what does it mean for him?

So many responses flickered through my mind:

It means everything is harder for him.

 
It means everything is harder for us.

 
It means he works so hard to reach milestones that others easily achieve.

 
It means we watched his younger, premature cousins pass him by in every milestone measured for babies.

 
It means that when his older brother has a fever, we give medicine to Teddy just in case he would develop a fever as well.

 
It means we worry that a fever will cause a seizure.

 
It means we fight with insurance companies to get him the testing he needed to be diagnosed.

 
It means we continue to fight with insurance companies to get him the therapy that allows him to make gains.

 
It means his first playmates, aside from his brother and cousins, were his therapists.

 
It means that instead of being passionate about people with different abilities because of my career, it became my entire life.  

 

Yet my response was this: 

 

 He has Multiple Congenital Anomalies Hypotonia Seizures Syndrome 1, a genetic disorder caused by mutations in his PIGN gene. He's a curious little boy who loves people who has global developmental delays. He gets OT, PT and speech therapy and is starting horse therapy next month. He's made tremendous progress with his gross motor skills and slowly but surely is making gains in other areas. There's so little known about his disorder, and we believe he'll write his own story.

I know you have two adorable boys with a rare disease as well. Sometimes our children open or eyes to a whole other world we never could have fully understood without them. 

Roller Coaster

For quite some time, I've described life with Teddy as a roller coaster. There are incredible ups and then dismal downs. Sometimes those ups last weeks or months but fortunately the downs seem to be shorter. Sometimes, you hit both incredible highs and lows in the same day. Lately, without seizures in so long, it's felt like more of a level ride, but the last 24 hours were reminders that the ride continues.

Yesterday evening, my aunt who was visiting asked me if I was planning to return to the professional world or if Teddy would become my career. Her question gave me pause, if for no other reason than no one has ever phrased it like that. I was never the person who dreamed of being the stay-at-home parent. My husband and I had plenty of tear-filled discussions before we had children, heck before we were married, about how much we wanted one of us to stay home to raise our children ... and those were tear-filled conversations because I enjoyed my career and didn't want to be stuck in a house expected to do all the cooking and cleaning.

Now, reality is that work is both my chance to be an adult, escape from the realities of my life for a few hours and contribute as a productive member of society for an organization whose mission I wholeheartedly support and with peers whom I enjoy. I do most of the cooking, partially because I enjoy it and partially because I am the one home. As for cleaning, well, our house is never clean.

Last night, after that thought-provoking question, I was able to help connect another mom whose child has the same diagnosis as Teddy to get her daughter a weighted blanket to try to help with sleeping issues. Huge thanks to my brother's girlfriend who has created a stockpile of completed blankets and shells to donate to those in need. She's going to finish one and mail it to this family, which makes me so happy.

Then today I spent most of my run contemplating my arguments for Teddy's hearing next week to appeal that he receives outpatient speech therapy. That didn't put me in the right mindset when I discovered the speech buttons that Teddy uses at school cost $135, which shot the idea of us buying a couple for him to use at home down the drain.

But when I posted in a few Facebook groups asking for alternatives, I got a plethora of answers ranging from where I could possibly borrow or try different devices, recommendations on getting him evaluated for a specific device, suggestions on how to pursue different funding options for devices and a whole bunch of cheaper alternatives. My favorite comment was when I asked about the durability of one device was this reply: they hold up pretty good - been dropped on the floor, stepped on, and the dog once carried it around the house telling me "I pooped. Change my diaper." 

That pretty much sums up life with a child with special needs. A lot of randomness and potentially even a dog who thinks it needs its diaper changed. 

So Proud

I'm not sure I could be more proud of both my boys than I was today.

AJ and Teddy were playing nicely together when all of the sudden AJ runs out of the room without an explanation. He comes back with a Kleenex and proceeds to maneuver around Teddy for 30 seconds trying to get all the snot out of Teddy's nose and then throws the Kleenex away. Seriously, how many 5-year-olds wipe their own noses, much less the noses of their little brothers? Especially without any prompting? (Don't worry. There were plenty of moments they weren't playing nicely together, too. I won't pretend that they always do.)

And that snotty-nosed Mister Teddy? Today he walked all the way to the end of our road and back, holding only one of my hands for support (and for me to keep him from exploring every open garage door). That's nearly 1/4 mile, and he didn't fall once. Although Teddy's been walking independently for more than 6 months, this is a significant milestone for me because this was a goal we had established for Teddy during the Birth to Three program. I was so excited that I e-mailed his team from that program, even though they no longer support him.

To top off that amazing walk, Teddy helped Dave open his birthday presents. For the first time I can recall, Teddy opened not one, but two gifts, by himself with absolutely no assistance. In the past, he's opened presents with some prompting and help getting things started and redirecting him when he loses focus. Tonight he deliberately opened two gifts.

So proud. Not much more to say than that.

I love ...

AJ's teacher sent us a picture today of an activity the class did where each student wrote his or her name, and the teacher then wrote what each child loved. My heart melted a bit when I read AJ's answer: playing with my brother and friends and legos.

Teddy may annoy the ever-living snot out of AJ some moments or days, but AJ still loves him fiercely. We heard today at Teddy's school conference that when Teddy walks by AJ's classroom, he instinctively knows that's where AJ is. Teddy stops to poke his head in to say hi to AJ. And then AJ's teacher said that AJ always smiles and waves at Teddy.

I love how much they love each other ... even when they both annoy the ever-living snot out of me.

The Beast

Surprisingly, the title of this post isn't referring to Teddy. It's the name of the totally awesome contraption my dad built for the boys. It's part sled and part tube with equal portions of ingenuity and love.

In case you didn't know, I grew up on a dairy farm. Although my family no longer raises animals, they still have all the property and raise crops. This means the boys get plenty of 4-wheeler and tractor rides when we visit. I didn't think anything could make tractor and 4-wheeler rides better until we got there this weekend and saw "The Beast."
 

This is completely normal for us.

My dad had created this specifically to allow Teddy to go tubing without needing an adult to hold him. It consists of a slippery plastic bottom with a large tractor tire tube strapped securely on top. The finishing touch was a smaller tube placed inside to give the perfect amount of support.

The boys loved the Beast. In fact, they spent most of Saturday morning riding in the Beast. They came in to warm up with hot chocolate (AJ) and snooze (Teddy - that 4 a.m. wake up makes him a bit tired by 11 a.m.). After that, we headed down to the woods where my dad had started a fire. We cooked hot dogs and s'mores for our winter bon fire picnic. It was so neat to see Teddy wandering around to whatever he wanted, mostly the 4-wheeler, when he couldn't walk by himself a year ago. We had snowball fights, played with snow paint and enjoyed an amazing afternoon.

This is mine. All mine. Wait, can you make it go?

This is our second year doing our winter cookout, and it's such a fun day. We were lucky to have much warmer weather this year that we could spend more time playing and enjoying the day.

Family sledding on the Beast.

As I've gotten older, I now have a much deeper appreciation for farmers. My dad (and uncle and grandfather) proved time and time again that no one is just a farmer. Farmers are gardeners, veterinarians, inventors, welders, woodworkers, machinists, mechanics, diagnosticians, meteorologists and so much more. I'm so lucky that my boys still get to experience bits of my childhood and spend such fun times with my parents. I mean, who else aside from a farmer could create something as awesome as the Beast?

Personalized sledding perfection!

Tell Me What You Want, What You Really Really Want

Now that I've inserted the Spice Girls into your mental soundtrack with my subject line, I can talk about Teddy and speech therapy.

Teddy's been receiving speech therapy for three years, with intermittent breaks while we wait 2 months for insurance approval. (This is after we had to appeal to even receive speech therapy because our insurance initially denied the service for Teddy.) We see a wonderful person named Ms. Caitlyn, whom AJ, Teddy and I all adore.

At Teddy's appointment last week, she had a bucket of testing toys out to assess Teddy at his appointment last week because it's that time again to submit to the insurance gods for approval. (They aren't gods. They just think they are.) I'm not a big fan of the testing toys because it's so hard to convince Teddy to do what he's supposed to do on command, even if he understands the request. Teddy's not a fan either because every other toy in Ms. Caitlyn's room is far more exciting than the testing toys, especially the ones AJ is noisily playing with at any given moment.

Still, we all survived the testing, and I was surprised that Teddy received credit for demonstrating knowledge of a specific item 4 times (essentially picking the picture out of the group of pictures). He even touched the correct item the first time and then used eye contact. Now, how much of that is luck and how much is actual recognition might be a bit debatable ... but his actions seemed intentional and, by golly, he got the credit for the testing score.

Teddy scored at 1 year 9 months for his receptive communication, which is how much he comprehends of what is communicated to him. He scored at 1 year 3 months for his expressive communication, which is how much he can communicate. Now, I get that Teddy has a whopping 3.5 years of life experience under his belt, but I was pleasantly surprised with his scores. When Teddy was first assessed for speech therapy, he scored at less than 1 month. That means he's made tremendous progress in the past three years, and I'm confident he'll continue to learn more and different ways to understand his world and communicate his wants and needs.

These test results certainly don't define who Teddy is, but they do make me wonder, along with his recent request to play outside, how much Teddy tells me that I just don't catch because I'm not paying enough attention to his subtle requests.

Thanks in part to Teddy's awesome progress, and in part to Teddy's awesome speech therapist who always has something encouraging to say to Teddy (and me), I'm optimistic for all the times when Teddy will tell me what he wants, what he really really wants.