Rare Disease Day 2018

In honor of today being Rare Disease Day, I'm giving you the rare opportunity to take a rare child off my hands for a few hours ... or days ... or weeks? I'm kidding, of course. Mostly. At least about the weeks part.

It's just been one of those tough weeks, but that happens sometimes in my world. Let's be real. Rare is tough. Rare is hard. Rare is full of unknowns. Rare is full of worries and fears. Rare is living through some of those worries and fears.

Wait, though. There's more.

Rare opens doors to worlds we didn't know existed. Even though I worked in Human Resources for a company that supports people with disabilities, I never completely understood it until it became my life. It's almost as if there's secret worlds that aren't secret at all ... we often can't see these other worlds because we're so blinded by our lives and priorities.

Rare is appreciation for the little things because they're not little things. Teddy carried three armfuls of laundry from the dryer to the living room today to help me with the laundry. That's not little. That's monumental. His helpfulness ended when he discovered a vest, which he obviously needed to wear.

Rare is knowing and experiencing the incredible support from family and friends. I'm certain that many of us have people in our lives who would drop everything or come to our aid if we needed it. We've been blessed to experience that support. Granted, I wouldn't wish the circumstances where that support was needed upon others, but it is a true blessing to experience that unfailing love and support. 

Rare is finding those incredible doctors, therapists and teachers who dedicate a portion of their lives to your child's success and well being. Talking to doctors at the National Institutes of Health who knew about CDGs was rare.

Rare is understanding you're not alone. The group of parents whose children share CDG-PIGN get it. They can provide advice, support, a listening ear or a story of something much worse that happened to them to provide perspective. This group gives me more sanity than they might realize.

Rare is understanding that a smile is universal. And the realization that a smile is what so many people need in our busy, stressful lives. And the gratitude that one of Teddy's gifts to the world is his smile ... even when he smiles with a mischievous twinkle because he's about to push your buttons.

Rare is our life because Teddy has CDG-PIGN. And since that's a confusing acronym, here's a short video that explains the CDG portion:

Doctor's Visits Galore

Let's just say that if there was a prize for most doctor's visits or amount of time spent at and/or commuting to doctor's visits for a 28-hour period, Teddy and I would have been strong contenders.

It all started Thursday morning when I decided to try on one of three shirts I was considering donating. Somehow, in the amount of time it took me to pull on one shirt, Teddy hurt himself with a smooth, rounded plastic coat hanger. My first clue was him crying. My second clue was his mouth filling with blood. There was so much blood in his mouth that he couldn't swallow while screaming hysterically. In fact, when he coughed on the blood, my face got splattered with blood.

It took me a half hour of wiping blood away, consoling him and attempting to peer in his mouth with a flashlight to figure out where the injury was. My best guess is that he stuck a coat hanger in his mouth, fell or dropped to the floor and pierced the bottom of his tongue by jamming that hanger into it. The injury didn't go completely through, but I got a glimpse finally of a wicked looking wound that prompted me to head right to the walk-in clinic.

The walk-in clinic took one look at his tongue and said that something needed to be done, but they couldn't do it there. So they walked us down to the Emergency Room. This was our first time back at the ER since the horrible seizure incident in December, so it's not exactly where I wanted to be. Neither did Teddy. Between the pain and the fear of doctor's offices/procedure rooms, he was crying the entire time despite being snuggled by a carrier to the front of my body. (Umm, can I get a gold star for managing to get him loaded on my front and hooking the back by myself 3 times in 1 hour? That's a record for me.)

The ER doctor took one, quick (not quite sure he saw everything) look and said it would heal itself. He said he could put in a stitch, but that would require sedation and would likely be chewed out within minutes. I was fine with that and figured Teddy would settle down pretty quickly once we left.

But he didn't.

Thankfully Dave came home early from work and then spent all afternoon at home while Teddy cried, whimpered, napped for 30 minutes and cried some more. He finally settled down after supper (without eating or drinking much because of the pain). Let's just say it was a long day from 10:30 a.m. when the injury happened until I collapsed into bed at 9 p.m.

Unfortunately, the pain medicine wore off, so Teddy was crying in pain at 3:30 a.m. That meant that all of us, including AJ, were wide awake by 4 a.m. Teddy settled down about 30 minutes after his medicine kicked in, but no one got any more sleep.

Teddy and I took off at 6 a.m. to head to Milwaukee for a couple doctor's appointments. The first was his ENT, which was extremely quick as usual. We'll be getting a call within a week to schedule surgery to remove his adenoids the end of March/beginning of April. This is a good thing in our minds. It should hopefully minimize ear infections and reduce his chronic runny nose.

We enjoyed a bit of time with my aunt before we headed to his physiatrist appointment. This was one of the recommendations from NIH, and I wasn't sure what to expect. I was pleasantly surprised because the person was fantastic with Teddy and spent 1.5 hours getting a really detailed history, observing Teddy's motions and body and discussing recommendations. She's coordinating with the person who does Teddy's braces to adjust them slightly to give him more toe mobility to help with balance, but she doesn't think we need to pursue different (taller) braces. She said we can discontinue the use of his SPIO compression garments once he outgrows the current pair as they tend to provide minimal assistance once he reaches this size. She's also going to put in orders for outpatient PT and speech therapy and coordinate with them about pursuing therapy now and then for the summer.

In case you haven't gathered, a physiatrist is a doctor of physical rehabilitation who coordinates therapies and adapted equipment. We had never heard of that type of specialist before NIH, but I'm excited to have someone to coordinate all his therapy between outpatient and at school as well as all his adapted equipment. I think this will be a good thing for us, and it will likely be paired in the future with a neurodevelopmental psychologist to help understand how to best motivate Teddy to work toward progress. That'll happen this summer, at the earliest, since it will be a series of lengthy appointments to really get to know Teddy. The physiatrist will look the report we get from NIH once we get it and see if it's sufficient. My guess is that it won't be as thorough as desired, so we'll probably go through the process. The appointments should be mostly play based, which really shouldn't be bad. It's just that we need some time between the week of NIH testing and any more extended testing appointments.

After that, we had our drive back home, getting home at 2 p.m. with a full 8 hours of travel and doctors' appointments. Now, where's our medal?

The Play Date

A few weeks ago I shared a note we received from the mom of Teddy's friend, Max. This past weekend we had a play date at our house with Max and his parents.

First, let me say that I'm so glad they were willing to come to our house. In Wisconsin winter, there aren't a lot of options for play dates, and our house is certainly the easiest because it's the most Teddy proof place that exists. It's OK if he breaks things here or puts things in his mouth and the entire house is either OK for him to explore or locked to prevent his exploration. Whenever we go anywhere else, we're constantly redirecting Teddy to keep him from places where he shouldn't be or from breaking things that other people probably don't want broken.

But that's not the point of this post. This post is to share how fantastic the play date was for Max, Teddy and both sets of parents. I'm the only one who has met both Teddy and Max, so everyone else was meeting for the first time. AJ went into his super show-off mode, which involves being extremely loud and bouncing off the walls to show off everything. So, after a bit, Dave gave AJ a tablet to allow AJ to be distracted and allow Teddy to focus on playing with Max instead of wondering what on earth AJ was doing.

There were several times that Max happily took Teddy's hand to lead him somewhere, saying, "I can help him because I'm his buddy." Max offered Teddy different toys, giving him things he built out of magnets for Teddy to take apart. There was only once that we needed to restrain Teddy from destroying Max's creation because he was focused on building and didn't want it taken apart. But once Max had his creation built, he said, "Here, Teddy. I built this for you."

They rode bike together and scooter together ... as in on the same bike and the same scooter at the same time. (Hey, I didn't say the play date was safe!) That was entertaining to watch. No matter what Max would do, Teddy watched with a giant smile on his face. Max would put his face inches away from Teddy's face, and Teddy would burst into non-stop giggles, which made Max laugh. The two of them spent probably at least a solid quarter of the play date laughing with each other, which was so much fun. Hiding behind a door and popping out from behind it was something they discovered they both love, as is the magic of light switches.

At one point, Max's dad said something about how incredible it was to watch Max interact so comfortably with another kid because Max struggles to relate to peers his own age. But he's incredibly thoughtful, considerate and fun with Teddy. He doesn't need Teddy to speak words for him to understand because he watches Teddy's gestures, facial expressions and body movements to figure out what Teddy wants or is thinking. A smile and laughter are universal languages.

Max and Teddy both have the same approach to snack. Eat fast and eat a lot. But that's a good thing because when people eat their food more slowly than Teddy, he automatically wants what they still have. Both boys downed their snacks in record time, although Max still had banana left when Teddy was done. Max shared a bite with Teddy, which Teddy devoured. Then Max gave Teddy the rest of his banana simply because he understood that Teddy wanted it. Such a thoughtful friend!

We all agreed that we need to have more play dates. Those couple hours were the highlight of my weekend and honestly my month. It's such a gift to find an incredible friend, and these two boys have that gift indeed!

NIH - 2 Weeks Later

As I was clearing pictures off Teddy's iPad from the trip to National Institutes of Health (NIH), I came across a picture that perfectly summarizes how we felt on the way back from NIH. They say a picture is worth a hundred words. This one is worth at least a thousand.

Those eyebrows on Teddy. My hair. My face.

Yeah, that about summarizes that plane ride home, the drive back from Milwaukee and the rest of that night. That week at NIH was exhausting on so many levels. The amount of information and testing was overwhelming. We still don't have all Teddy's results back, despite 250+ results populating when I accessed his online portal last week Friday. My comment to the service rep was, "It was a busy week." He said that it certainly was and thanked us for helping so much with research.

Nearly everyone was absolutely fantastic there, and so many shared that same appreciation for Teddy's participation in the research. In fact, the neurologist's report said something along the lines of, "Thank you for providing me the opportunity for this interesting consult."

Like I said, we're still waiting on some of the results, including ones like the EEG, sleep study and neurodevelopmental that we're extremely interested to see. We're slowly working to implement some of the suggestions. (Who knew it would be this freaking hard to figure out the passwords to install things on my iPad that I rarely use?)

We are tackling some of the easier ones, like offering water instead of apple juice most of the time. We have even managed to get Teddy to eat two full servings of broccoli. Thanks, Aunt Lindsay, for the recommendation of broccoli tots. That's more broccoli than Teddy has eaten since he was 2 when we could sneak it in his mouth and he lacked the ability to get it out of his mouth. Teddy hasn't complained about switching multi-vitamins from the gummy version to the chewable ones supplemented with iron. We've added more wheat flour to the batches of pancakes, along with wheat germ for extra nutrients. Then Teddy proceeded to eat 4 pancakes at breakfast this morning and served himself another as a snack. Yippee for extra whole grains and nutrients. Whoops to portion control.

We've scheduled an appointment with a physiatrist for the 22nd, so we'll see how that goes. I questioned scheduling the neurodevelopmental psychologist and decided to wait on pursuing that referral when the initial appointments, including several with 3 to 7 hours of testing, were described. Mentally, I just can't that quite yet after NIH. I figured we'll wait to see what the physiatrist says regarding the value of adding in that specialist to his treatment team.

There's an awful lot of recommendations, even minor ones, to consider and implement. It'll take time to work our way through them, but it's a good thing to have a list of ideas to consider and try to help Teddy be his best.

The Best Note Ever

I've written about Max before here and here. But you get to hear more about Max because yesterday he gave me a note from his mom. Here's an excerpt:

Hi,

Max is always talking about Teddy. He is his best friend, he says. I was wondering if you would be open to any sort of play date for these two? I understand that Teddy doesn't talk, but the connection between these two is amazing!! 

I can't write those words without smiling. I can't think about the card without smiling. I almost didn't get through the note without crying. I shared the note with Teddy's running buddy in the I Run 4 Michael group on Facebook, and my favorite response was from the mom who said that she was ugly crying in the back of some guy's uber. Others from our PIGN Facebook group said they were doing their happy dance and that this was the best thing they'd seen all day. (I love that someone else has a happy dance, too. Mine is literally flapping my arms. I think Teddy inherited my happy dance.)

There's so much contained within these two index cards. Teddy is someone's best friend. Do you know how friggin' awesome that is? It's so awesome that Dave's e-mail to me this morning was, "If you are scheduling a time with Max, I'd love to be around at least for part of it, so I can meet him. I would really like to meet Teddy's best friend!"

And that's the other part! Teddy got invited to have a play date of his own! For all the times that he hasn't and won't be fully included in his life, he is here. And that's what matters.

I can tell from the rest of the note that not only does their friendship mean so much to both Max and Teddy, but it means the world to Dave and I and Max's parents. Our children have found a true friend who enjoys spending time together and accepts them completely.

I asked if it was overkill to frame this. Dave said no.

I left Max's mom a voicemail last night, and I'm super excited to make this play date happen! Max's parents have never seen Teddy and Max together since Teddy gets off the bus first, so they deserve to see firsthand how special these two are together. Although, let's be real ... the thought of Teddy on a play date is a bit daunting since Max has only interacted with him in the confined space of a bus. I'm sure it will be fine, but it'll be different than they're used to. I'm envisioning Teddy leading Max everywhere and toys strewn equally everywhere. Sounds about perfect.

Focus on the Possibilities

Today I saw two different inspiring stories that emphasized the same point: focus on what you can do, not what you cannot.

One of the first Super Bowl ads for Toyota was called Good Odds. Within the first few seconds of the commercial, Dave called my attention to the commercial because he knew it was going to be good. And it was. The commercial, available at this link on YouTube, features Lauren Woolstencroft. She beat the odds to win, not one, but eight Paralympic gold medals. It's one minute well worth watching.

The only thing I wish about this was that I knew about Lauren before this commercial. We often hear so much about those athletes, the Shawn Whites and Lindsay Vonns, who compete in the Olympics before the Paralympics. The the coverage of the Paralympics is non-existent, which means most of us don't know about those athletes, many of whom overcome even more challenges than the Olympians who compete in the two weeks prior to them.

The first story I saw today gives me hope because it focused on an athlete who competes both in adapted sports (and from the little bit I saw, adapted hockey seems way more interesting and challenging than traditional hockey) and traditional sports. CBS Sunday Morning featured a high school athlete named Danny Lilya.

Danny was born with a separated spine, which means he uses a wheelchair for mobility. Yet he plays football. Yes, you ready that correctly. Someone who uses a wheelchair for mobility plays football, traditional football as I said earlier.

How?

It's quite simple. Danny focused on what he can do. He's able to hold a football perfectly fine. So, he holds the ball for extra points and kickoffs. He gets out of his wheelchair, holds the ball and then leaves the field until the next time he's needed. His parents commented that if he were to get tackled, it would be a highlight for him and joked that they don't need to worry about him getting paralyzed from a hit because he already is.

To me, this story is the perfect example of focusing on your capabilities, not your disabilities. It's not about what Danny can't do but about what he can. It's about inclusion. How can we include others? It's about accommodation, a very reasonable accommodation of a few extra minutes to get Danny's chair on and off the field before and after these few plays. What little things can we do to help others succeed, live their dreams or simply enjoy life more?

These questions aren't just rhetorical. They're a challenge for me to always seek this mindset with Teddy and others. How can I include Teddy? What little things will help him? (And, no, a giant ladder for him to climb is not the secret to success, although he might believe that.) What can I do for others? What can you do?

Just as these stories illustrate the importance of these Lauren and Danny focusing on what they can do, my challenge to you is the same―focus on what you can do.