Rare Disease Day

Today is Rare Disease Day. The last day in February is dedicated internationally to raising awareness of all rare diseases, focusing on families, caregivers and treatment teams. It's happened every year since 2008, but this was the first year we recognized it simply because it was the first year it impacted us.

I figure Rare Disease Day is a good time to share a bit more about Teddy's genetic disorder: Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1. I hadn't done a post yet attempting to explain his diagnosis for two reasons:

1. An Internet search will give you basically the same information I can share.
2. It's really complicated. It's honestly to the point that I feel like I need a doctorate degree in genetics to understand, much less help others understand. 

But here's the gist of it, as far as we can piece together.

The disorder was discovered in 2011, following 7 confirmed cases from 5 inter-related families in the Middle East. That cluster of children all grouped together provided enough information for the medical field to understand that mutations on the PIGN gene cause this condition. Including those children, there were a total of 14 cases listed in research papers when Teddy was diagnosed in November 2015, according to our genetics team. Because of the rarity of the disorder, our joke was that Teddy wasn't one in a million. He's more like one in a half billion.

Since that time, we've been beyond blessed to connect through Facebook with 8 families throughout the world who have children with the disorder. We recognize the disorder is rare, but we also believe there's plenty of people who haven't been diagnosed. We received the diagnosis after exome sequencing, which is an expensive genetic test that has only been used in recent years. Unless a person goes through the gamut of testing to get to exome sequencing, it's unlikely they'd receive this diagnosis.

MCAHSS1 falls into the category of Congenital Disorders of Glycosylation (CDG). Per the National Organization for Rare Disorders, "Glycosylation is the process by which sugar ‘trees’ (glycans) are created, altered and chemically attached to certain proteins or fats (lipids). When these sugar molecules are attached to proteins, they form glycoproteins; when they are attached to lipids, they form glycolipids. Glycoproteins and glycolipids have numerous important functions in all tissues and organs. Glycosylation involves many different genes, encoding many different proteins such as enzymes. A deficiency or lack of one of these enzymes can lead to a variety of symptoms potentially affecting multiple organ systems. CDG can affect any part of the body, and there is nearly always an important neurological component. CDG can be associated with a broad variety of symptoms and can vary in severity from mild cases to severe, disabling or life-threatening cases."

Makes perfect sense, right?

Essentially, the mutations of Teddy's PIGN gene affect his body's ability to send messages and connect information because the pathways and processes don't function typically. 

You can find more technical explanations of this category of rare disorders through the National Organization for Rare Disorders at rarediseases.org/rare-diseases/congenital-disorders-of-glycosylation/

There's also more information about Rare Disease Day through www.rarediseaseday.org

Join us in making the voices of rare diseases heard.

(And thanks for listening to Teddy's voice.)

My Walking Talking True Loves

Although some of my greatest anxieties with Teddy's diagnosis were for AJ—mostly centered around missing out on typical experiences with a sibling—I've known all along that AJ can be a better person because of having Teddy as his brother.

AJ's already learning to help Teddy, whether it's getting Teddy's coat out of the closet or taking off his shoes and braces before nap time. Sometimes AJ will decide Teddy is hungry and get him a snack all by himself. Sometimes AJ gives Teddy an entire box of goldfish crackers on his tray. (He's generous!)

My favorite, though, is when AJ encourages Teddy's new skills or ones he's working to develop. Sometimes AJ is literally a cheerleader, clapping and yelling for Teddy. Other times, he's helpful and encouraging.

AJ just bought a new Paw Patrol toy yesterday with his own money. It's some sort of keypad that allows Ryder to call all the pups. I know I just went over most everyone's head, who isn't well versed on Paw Patrol. It's basically a handheld toy with buttons to push that make different sounds. AJ's already been sharing it with Teddy, encouraging him to push the buttons.

One of my favorite things, though, is when AJ helps Teddy practice walking. Teddy has a gait trainer, but he's gotten smarter about how to use it improperly with less effort to go faster. He found the cheating way to use it because he wants to keep up with AJ. So we've been taking a break from the gait trainer and focusing more on deliberate steps, so he can learn how to actually shift his body weight to walk. There's been a handful of times Teddy's walking while just holding AJ's hands, but I've never captured those brief moments on video. I did manage to capture Teddy walking and pushing his bike while AJ rode it, which is one of their favorite things to do together now.

This melts my heart. (I did stop filming before before AJ hopped off the bike causing Teddy to catapult backward.)

Gratitude

Dave had to leave early for a work trip, which meant we either skipped church or I took the boys solo. At the last minute, we decided to head to 11 a.m. mass. (And by we, I mean, AJ didn't overly protest when I said that's what we were going to do.)

Teddy wasn't in agreement with this plan and fought me from the minute we arrived. Nothing held his attention for more than a minute, and he wanted to be everywhere except by me. When we finally got to the sign of peace, the lady next to us kindly offered her hand for Teddy to shake. And he grabbed hold and wouldn't let go.

Her response made it worth making the effort to attend church. She asked if Teddy would like to go by her for a bit. She held out her arms, and Teddy flung himself into them. She held him, flipped through the song book with him and had her wonderful teenage son smiling and making Teddy grin. For the first time since we got to church, Teddy was happy. Those 5 minutes or so gave me the opportunity to be grateful.

So to the lady who held Teddy, thank you! I mouthed that to you when Teddy came back to me, but I didn't push my luck with squirming Teddy and left church immediately after communion. I missed the opportunity to properly thank the woman who made church more meaningful for me today than the homily, which I barely heard while juggling Teddy.

And to the woman who came to church with 4 little ones all by herself, you amaze me.

Sleep is for the Weak

As if it's not enough to spend all day chasing two young boys, sometimes Teddy goes through phases where he decides sleep is optional. As in, he'll wake up in the middle of the night and decide it's time to play ... for 3 or more hours.

Unfortunately for the rest of us, Teddy's not one who can independently play. He needs minimum supervision that requires at least one parent awake. And sometimes, just for fun, his older brother hears the commotion and decides he wants to play as well. At least AJ's usually pretty easy to redirect to bed.

Honestly, when Teddy hits these "party all night 'til the break of dawn" spurts, there's not much we can do until he is ready to sleep again. Trying to force him to fall asleep results in lots of screaming, which wakes up everyone. Usually Dave and I take turns, each spending about 2 hours with him, so we can both get some rest. Some nights, though, one of us stubbornly keeps him the entire time. (I really appreciate when Dave gets him, especially now that we have a cabinet lock that keeps all the pots and pans in the cupboard at 2 a.m. I have a hard time sleeping when those are Teddy's toys of the moment.)

One night this week was one of those party nights. It started innocently enough, with Teddy waking up coughing and miserable because of his cold. I snuggled him, gave him all sorts of essential oils and medicine and stripped half his clothes because he had a slight fever (and in his world, that's a trigger for seizures). Once the medicine kicked in, however, he decided we should play because he felt better.

This was a different night, but he had so much fun! Climbed in there twice!

With Dave out of town for work, I trudged downstairs with Teddy, set him on the floor to play and went about being productive. I put away all the clean dishes, switched the laundry to the dryer and packed up the cookies that had finished cooling on the counter. I get less frustrated when I occupy my time productively instead of just wishing I was sleeping and calculating how little sleep I was getting.

Does it make me an awful mom or an awesome mom for giving Teddy cookie at 3 a.m.? (Don't worry, I finished the rest of the cookie and didn't let him eat a whole one. That would just be irresponsible.)

When he's up like this, I try not to encourage it by taking away his pacifier and not playing with him. If he needs me to entertain him, then he can sleep instead. I've managed to get sugar cookies decorated, plenty of laundry done and some reading for pleasure during various overnights with Teddy.

This was a productive night!

This night's party ended with folding laundry, since Teddy didn't approve of my choice not to allow him to climb on the table and destroy my nicely folded laundry. He fell off the chair, bumped his head and burst into tears. After a quick diaper chance (and biting my shoulder twice), he was ready for some snuggles. Within 30 minutes  or so, he was asleep again.

It was 5 a.m. I'd been up since 1:30 a.m. I managed to fall back asleep for an hour before my alarm clock and AJ woke me to get ready for work.

You'd think Teddy would sleep in after a night like that, but he was up by 6:30. And he napped a whopping 15 minutes all day. Sleep is for the weak, and Teddy is not weak. (He's trying to teach us to toughen up, just like him.)

Fine Motor Finesse

Teddy attends occupational therapy most weeks and has since he was roughly a year old. When he first began OT, we were perplexed as to what it would entail for a child who was barely a year old. The running joke in my family was that he was too young to pick an occupation for his future career. We quickly discovered that OT essentially focused on the fine motor skills, which Teddy greatly lacked.

Since that first OT appointment, we've discussed the pincher grasp at just about every appointment. (That's how babies learn to pick up small objects with their thumb and pointer finger.) Teddy's preferred method is to shovel entire handfuls of food into his mouth, and he's mighty efficient that way. So efficient, in fact, that I doubt he sees any reason to learn how to use a pincher grasp for food.

He has made progress with his OT, learning to isolate and use his thumb and become more deliberate using fingers instead of his entire hand. But progress with his fine motor skills always felt so slow. Even the skills he gained, such as clapping, which has been an OT goal for quite a while, he refuses to show his occupational therapist. He first started clapping just before he turned two, and we were lucky enough to capture one of his pictures with him clapping. I'm glad I had that to give his therapist to prove he could do it since he still hasn't done it for her 7 months later.

I adore those blurry clapping hands! (And that smile and those dimples!)

I rarely felt I had anything new to tell his therapist each week in terms of progress. Maybe it's because large motor skills are more obvious because it's kind of hard to miss your child climbing on your kitchen table.

That's all changed in the last month. I feel like he's made such huge bounds in his fine motor skills. From holding onto the sled to holding onto the swing, his ability to maintain a grasp on objects for balance and steadying himself has greatly improved.

He has a stacking toy that all of the sudden, he loves and can stack rings with relative ease. He's taken an interest in coloring, knows the purpose of writing utensils and loves to make marks. He handed objects to me and to his big brother AJ at his last OT appointment. He also figured out how to pull push beads apart and pull apart the tubes that scrunch together and pull apart. This past weekend, he played with mega blocks for 30 minutes straight and was actually stacking blocks together.

I realize to most people, these things sound ordinary. I understand that most children can do all these things before they are a year old. But Teddy's never done any of these things until the past month. I could put an exclamation point after each description because that's how excited I am to see all these new skills he's developed. He's worked hard for these skills, and it's so neat to recognize so many of them clustered together.

(And I'm excited for his next OT appointment because I get to report his ability to A) pay attention to a single task for 30 minutes and B) tell his therapist he can stack mega blocks together.)

P.S. I realize finesse is an exaggeration. I like alliteration. And for Teddy, it is finesse.

Swim Class

Teddy loves the water. He's the kid who tries to climb into the bathtub with all his clothes on because there's water in there. (Thankfully, for the most part, he's past the "climb in, climb out, climb in, climb out" phase that left Dave looking like he'd taken a bath with his clothes on as well.) He always gets extremely excited to be at a pool, which results in him flailing around, which is a spectacular combination when he's wet and slippery.

His neurologist, along with some of his therapists, have recommended getting him into the water as often as possible to help with his development. He's too young for the classes through the local rec department (and that water is so chilly I really don't like the idea of endless parent/child classes). So we started him in parent/child swim class at the local YMCA.

I was the lucky one to take him to the first round of swim lessons. That's six entire lessons. I dreaded going to the first lesson, where he ended up puking because he tried to drink the entire pool a few too many times. Let's just say he's not afraid to get his face wet. Then there was the time he almost knocked me over and the instructor reached out to catch me. (It's not my fault the kid is close to 1/3 my size. As other moms with children with hypotonia have said, it's not that they're not strong. They can fling their body weight better than most.) He didn't want to bear his weight to stand in the water much of the time, but he got a lot of OT in with the splash area. And his excitement every single time, especially that last time where we got to use the big slide, made it worth it.

Still, when it came time for the second round of swim lessons, it was Dave's turn to wrestle Teddy. (I felt I had done one round of parent/child swim lessons with each child, so I was due a break.) He dreaded going as much as I did to the first lesson, but at least Teddy didn't puke or knock him over. After the first class, he was much happier to go ... or at least dreaded it a lot less ... because he saw how much Teddy enjoyed it.

Teddy finished his last class this week and absolutely loved his first game of duck, duck, goose. He also gave Dave a run for his money because he was so incredibly excited to go down the slide. (See, that's progress that he recognized what climbing the stairs to the slide meant!). He had a wonderful time.

Did he pass with flying colors? Heck no!

We've never called him Theo. Other than that, pretty awesome report!

Did we expect him to? Nope.

Would I love to find a special needs swim class, so he could get the therapeutic benefits of the water with his peers instead of quickly becoming the oldest in the class by a long shot? Yeah, that would be nice.

Will I be getting into my swimsuit for the next round of swim lessons? Perhaps I should lay off the ice cream and focus on my half-marathon training.

One of Those Days

We all have those days.

I knew yesterday was one of those days when we were at our 9 a.m. physical therapy appointment. It started great with Teddy doing really well balancing using his core and enjoying the activities. When we switched to walking, though, things went downhill. He quickly became frustrated and mad at me and his therapist because we were forcing him to slow down. All he wants to do is run, but he needs to learn how to shift his weight to actually walk. It's hard for me to see him frustrated, especially when I'm the one causing his frustrations, even though it's for his own benefit.

From therapy, we went to the store. Normally AJ is well behaved and accepts the fact we're not buying toys with minimal complaints. Of course, he proceeded to whine and beg for the entire time we were shopping. (Hearing the word please 100 times in 20 minutes does not make me happy.) This led to me banning AJ from tablets or movies for the entire day, which really punishes me more than him.

Since all three of us were less than happy, we headed home. That was when I got the first of two bad pieces of news for someone in our family. Lunch helped improve our moods somewhat, but then Teddy determined that he didn't need a nap. No nap for Teddy is almost a guarantee that two of us will be crabbier.

I spent nearly an hour on the phone trying to sort out medications and then insurance coverage of speech therapy for Teddy. After getting transferred to the wrong department (and finding out after spending 10 minutes on hold), I might have informed that person that I "loved wasting my time on hold to be transferred to the wrong person." When she offered to transfer me to the right department, I told her I could call the number myself to sit on hold and then hung up on her. My parents raised me better than that. I know better and usually can use my manners even when I'm frustrated to the point of tears. My apologies to that person at our insurance company. (And to my mom.)

From there, we tried another store hoping that getting out of the house would help. It didn't. We left empty handed with all three of us grumpy.

Because it was one of those days, my husband texted me that he would be late home from work. I really appreciate the heads up, but it was just one more thing.

And when the boys seemed to be playing together happily on the rocking chair, I warned AJ not to crash the chair into the wall. Let's just say that our wall has 2 new holes in it, and the rocking chair is banished to the garage.

Moral of the story: I do not have it all together. Even though I brushed my teeth before 3 p.m., it was still one of those days.

I'm glad today wasn't.

Brotherly Love & Trampolines

Our boys are just shy of 2 years apart, the perfect amount of time to be the best of friends and the worst of enemies. Since Teddy is Teddy, he thinks they're always best of friends, and AJ's the only one who feels the worst of enemies when Teddy won't let AJ play by himself. (Can you blame Teddy? Would you want to not play with your favorite toy in the whole wide world, your older awesome brother?)

AJ's not strangling Teddy-that's just how he hugs Teddy.

Yesterday was one of those days with heart-melting moments and heart-stopping moments. Few things make me truly happier than watching AJ interact positively with Teddy, like when he spontaneously cheers and claps for Teddy doing something. "Mama, Teddy sat in the chair all by himself! Good job, Teddy!!!"

But 10 minutes later AJ's bouncing on Teddy. When I tell him to stop, his response is "We're playing trampoline." When I insist he stop because Teddy isn't a trampoline, then he throws a 4-year-old tantrum because I ruined his trampoline fun.

Give it a few hours, and AJ buckles Teddy into his gait trainer all by himself because Teddy was pulling up to stand by it when I wasn't in the room. Then AJ leads Teddy around the house, playing with him with non-stop giggles from both of them.

The heart-stopping moment was when AJ jumped out of our recliner to land squarely on Teddy who was crawling on the floor, right on top of Teddy's head. That was one of those moments where Teddy and I both screamed equally loud because I was scared and worried about how hurt Teddy was. I think he was more scared about being a landing pad for a human cannonball than actually hurt, so we both calmed down pretty quickly. We'll see if AJ's lesson on jumping on people is learned. (I'm crossing my fingers it is-he was apologetic immediately and realized he hadn't done a good thing.)

Bedtime might have came a bit early last night, not that they fell asleep any sooner.