Tuesday, October 1, 2019

Gene Therapy Fundraiser



Nate seemed particularly happy on our walk to school the other day. I asked him how awesome he thought his life was on a scale of 1-10. His response? “Twenty. Wait, no. A trillion!!” This surprised me 0%. He loves his life, and we love our life with him in it. We want his life to be as long and fantastic as possible.

As I mentioned in our last post, a possible treatment for SMARD is in the pipeline at Nationwide Children's Hospital, and we are big fans of this news. This type of gene therapy has already been developed for other diseases and had amazing results (check out some of these articles!). Now Nationwide is ready to create a SMARD-specific version of this therapy. The therapy aims to replace the faulty gene with a healthy copy by delivering a one-time dose of a "virus" that carries the healthy gene. Gene therapy like this has the potential to stop the progression of the disease and even to help kids reclaim some of the strength that they've lost. Nate's decline has been so gradual that it has been almost imperceptible even to us until we look back at pictures from years ago and notice him doing things that he'd never be able to do now. Even stopping further degeneration would be life-changing for him. Children who are still very young with limited disease progression stand to gain even more from this treatment.

The nonprofit Smash SMARD has been working closely with researchers at Nationwide and have raised over $1.3 million in the last few months which will be used to fund this research. They need an additional $600,000 to get them to clinical trials next year for 10-12 kids. 

So, to recap...this gene therapy already exists, it has worked in other diseases similar to SMARD, it has worked in SMARD mouse models, Nationwide is interested and excited about moving forward early next year with developing the treatment specifically for SMARD, $1.3 million dollars have already been raised (mostly through Facebook!!), and clinical trials could happen as early as next summer. A lot of exciting stuff. But it’s all contingent on raising the rest of the money.
Over half of the money raised so far has been from Facebook donations, and most of those donations are small amounts from people just chipping in whatever they can. So, in honor of my and Scott’s October birthdays, we’ve set up a Facebook fundraiser. It's so easy to donate on Facebook - just visit this page and click the blue "Donate" button at the top. We invite you to just do whatever you can, no judgement. If you don’t feel comfortable donating on Facebook, let me know and I can give you an address to send a check.
Of course we can’t really predict what kind of impact this treatment would have on Nate, but all signs point to it being a low-risk, high-rewards option for him. Until now we’ve never had any real hope for a treatment and this project is worth seeing through to the end. I can’t stand the idea of money being the reason it might not happen. We are so grateful for every single donation! 

Donate here!

You can learn more about the therapy and the work Smash SMARD is doing at smashsmard.org. Smash SMARD is a registered 501(c)3 organization and all donations are tax deductible to help find a cure for SMARD.

Sunday, July 21, 2019

Gene Therapy

The dream of a treatment for SMARD becoming available in Nate's lifetime has always felt like just that - a dream. Because the patient population is so small, research funding is very limited and there hasn't been much hope for treatment, so we've just focused on keeping Nate safe and happy in the present and have done our best to not worry too much about life down the road.
But at the moment, a possible therapy is in the pipeline at Nationwide Children's Hospital and it's kind of hard to ignore. This gene therapy has already been developed for other diseases and the same type of therapy is now being created specifically for SMARD. The therapy aims to replace the faulty gene with a healthy copy by delivering a one-time dose of a "virus" that carries the healthy gene. The results of this kind of treatment in other neuromuscular diseases have been pretty amazing. Gene therapy has potential to stop the progression of the disease and even to help kids reclaim some of the strength that they've lost. Nate's decline has been so gradual that it has been almost imperceptible even to us until we look back at pictures from years ago and notice him doing things that he'd never be able to do now. Even stopping further degeneration would be life-changing for him. 
Nationwide is already well into their research studies for SMARD and if they stay funded, clinical trials for gene therapy will start as soon as next year. But that's a big if - they are relying heavily on donations to make this happen. The nonprofit Smash SMARD has been working closely with researchers at Nationwide and have raised over $500,000 in the last few months which will be used to fund this research. A treatment is closer than it's ever been, but we've got to keep the project alive. 
Over half of the money raised so far has been from Facebook donations, and most of those donations are small amounts from people just chipping in whatever they can. So, whatever you can give really does make a difference! We still have a long way to go - almost $1,000,000 to take the project to the finish line, but I think we can do it!! It's so easy to donate on Facebook - just visit this page and click the blue "Donate" button at the top. No one sees how much you donate except the owner of the page (not me!) so we invite you to just do whatever you can, no judgement.

For those of you who want to go the extra mile, it's really easy to set up your own birthday fundraisers on Facebook for Smash SMARD. Let me know if that's something you'd want to do and I can help point you in the right direction.
You can learn more about the therapy and the work Smash SMARD is doing at smashsmard.org.
We've got a spark of hope for the first time ever, and we are so grateful to all of you who have already donated and those who have yet to donate!! 

Wednesday, February 20, 2019

Surviving to Adapt

Like every child ever, Nate loves video games. Unfortunately, his options are limited to a select few iPad games that allow limited touch input for gameplay.

Thankfully, Microsoft has released something they call the Adaptive Controller, which has the potential to open many new pixelated doors for Nate. I’m sure you’ve all seen the commercials by now.  But, this entry comes at a steep cost, but not from Microsoft. And this brings us to the cost of accessibility. We’ll get back to this in a minute. First some history.

There was a time, from about 2011 until 2015 where Annie and I felt like all we could do was survive.


We were trying to learn how to care for Nate with his new condition and every week seemed to bring some new horror.

This is the cover to Nate's latest rap album
Eventually, things evened out and we began to think about how we could do things differently, better, more organized. Now, instead of wondering how we will get the day, I now wonder why Google seems to think I am so interested in El Chapo's wife and mistress. I clicked on one article about El Chapo's accountant like 3 months ago and now I can't go a day without Google pushing me a story about his wife.

Part of this new-found ability to think more proactively about life is the question of accessibility for Nate. And let me tell you, it's not easy, or cheap

I don't know if it's because the places that make accessibility equipment have such a small market that they need to have eye-watering prices to survive or whether it's because it's usually an insurer paying so prices can be higher or whether they know people need these things and have nowhere else to go, but accessibility is hilariously expensive. And when I say hilarious, I actually mean rage-inducing.

The bright side is Nate IS able to live a normal life in many ways. He plays with toys and in fact, playing with toys is even good exercise for him. We go to the movies:




















He rolls his eyes and hates taking memorable pictures that we could have cherished forever if he would JUST LOOK AT THE CAMERA!

He even likes to go out in the rain and drive through puddles. Until the it rains too much and he has to wear the blue poncho. Sometimes it's fun to make him wear it anyway. He super loves it.

Back to video games: This year Microsoft released an Adaptive Controller for their Xbox. This controller is a hub that allows people to plug in non-traditional (to video games) input devices like; mouth switch, foot peddles, single large buttons, accessible joysticks etc...that disabled people often use day to day.  This allows them to play games with these devices and configurations built for their disabilities in lieu of a traditional game controller.

Frankly, it was a surprising move from Microsoft but super amazing.

This device is actually not that expensive, but what is expensive are the specialty buttons, joysticks, and switches that you need to buy from specialty vendors. I kid you not, one place charges $60 for a button. That’s right, you heard me correctly.  I said button, not piece of Ikea furniture

With how weak Nate is, we would need two joysticks and something like 4-6 buttons. So, I decided to make my own buttons and wire it all up. I know nothing about how to do this and it was aggravating for awhile. It was a steep learning curve. The upside is,  the whole thing, dozens of buttons and two joysticks, cost me less than the price of one button from the disability place.

I’m still troubleshooting some issues and putting the finishing touches on it but it should be ready soon. Nate and I will be able to play video games together. We are very excited. 

But this is a constant in our lives and we won’t often be able find less expensive work-arounds. His toilet seat for example cost more than twice as much as his iPad.  

But, BUT! Nate has been able to do so much more than I thought he would have been able to 6 years ago and the essentials that Nate needs for adaptability are always covered by healthcare. For everything else, we'll just keep figuring it out. 

He has major obstacles in his life and things are often difficult but loves to talk about how happy his life is and how he has the best life. So, you know, there's that.

Look at this kid go. 


























Tuesday, August 21, 2018

Yes, It Con Get Better


"It's a celebration of everything awesome." This was Nate's explanation of what Comic Con was when asked.



He's not wrong. I've wanted to attend Comic Con since I was a teenager but by the time I could afford the time and money to go, it had exploded in popularity and I had given up on being able to get tickets. When we did get the chance to go this summer, I was a little nervous about how it would all go down. I knew the crowds would get to Nate and Annie had made it clear she probably wouldn't love it. To our collective delight, we all loved the experience. It really did have everything that Nate thinks is awesome.



As we've seen in past posts Nate has met several Transformers but he had never seen a full-size replica. Unfortunately, he wasn't impressed. He was very worried about how the franchise could continue in the chaotic, inconsistent universe that Michael Bay created in previous....no, I'm kidding. He thought it was awesome.  And he was right.



I got to become an action figure. And my action figure comes with the Infinity Gauntlet. I'll have to open up my notebook of grievances to see who I would snap out of existence.  First on my list, whoever invented jogging. 


Is there anything better than a picture of these two people? This is a picture from the hotel we stayed at. One of the great things about this hotel was that everyone from Magic Wheelchair was staying here and there were roughly 20,000 of them so we always knew we would run into a friendly face when we left our room.



Nate isn't the Pokemon fanatic he was a couple of years ago. I mean, he consumed every bit of Pokemon media that had been created over the last 20 years in about 2 months so the crash was inevitable. But he still likes it and how can you beat seeing a giant Pokemon built out of legos (actually Mega Bloks).


As if San Diego itself wanted to make the trip even more special for us, we happened to catch a fireworks display from our hotel. The fireworks seemed to be coming from Nate's other favorite thing to do in San Diego (Comic Con being first) the aircraft carrier Midway. It was a double threat of enjoyment. Though I did have to hold Nate like this for the duration of the show. R.I.P. my back.


Wearing a Star Wars shirt? Check
Taking a picture with a rebel pilot and Stormtrooper? Check
Excitement turned up to 11? Check
Nothing more needs to be said.


Oh, and we got to sit in a replica of the cockpit of the Millenium Falcon that used actual parts from the film set. I mean, I think the picture tells the story. Nate is super happy, I am in stunned joy and Annie is asking what episode of Star Trek this is from.


Nate LOVES super heroes right now. He's always kind of liked them but right now he is INTO them. He's been reading all of the old comics and will periodically yell at me from where ever he is something like "DAD! HAWKEYE JUST SHOT A BOMB ARROW" or "DAD, DAD, DAD, THIS IS MODOK'S FIRST APPEARANCE".  It's delightful.

The other day we were in a line for something and Nate turned to us and said "Those two kids keep staring at me".  I'm never totally sure how to respond to this. Do I brush it off like it's not big deal, do I tell him that they probably don't see someone with a tube in their throat very often or that they are curious? As I thought about the best way to respond, Nate then said, "They probably know I have SMARD and think it's awesome".  And all I could say was "Keep being you Nate".

One great thing about Comic Con is we DIDN'T feel like people stared at Nate like he was weird or different. Most people just seemed to get joy from seeing someone like Nate out and enjoying the same things as everyone else.


Saturday, July 28, 2018

Con It Get Any Better?

Okay, so we have a lot to cover and I'm not sure how much we can get to. Writing a blog is tough business and I don't keep up to date like I should. And after all of the amazing things that happened last week, we thought it would be best to finally create a Smardypants Instagram, something we'd thought about doing for awhile.

So, in the long stints between updates here, you can keep up-to-date in the most modern-est form of social conveyance by following @smardypantsnate on Instagram.

 CLICK HERE to see the SMARDYpants Insta


We were given a trip to San Diego Comic Con and we have A LOT of pictures. We have so many pictures that if we uploaded them at once, it would clog the internet like a kink in garden hose. It would bulge and strain until finally exploding, covering everyone in random internet.

To save you from that, I'm splitting this entry into two posts. This is about the reason we were there. Next post will be more about our experience at the best nerd gathering since the British Royal Society had their first meeting.

Why did we go to "The Con" you ask? Glad you asked. Turns out there is a fantastic organization called Magic Wheelchair. Their goal is to build a costume for every child's wheelchair and they build some pretty amazing costumes. See some of them below:

This is the image that MARK HAMILL shared on Instagram. 

It's a uniquely awesome goal. I can't speak for all kids in chairs but Nate does't like being in his chair. It's a grim necessity for him. But once he had his costume...he wanted to be in it as much as he could. Watch this video from Magic Wheelchair about the reveal of the costumes and try not to feel better about the world.



But that isn't even the best part. The best part about for Nate is that it made him feel like he was a Jedi. It made him feel cool and happy, like he could take on the whole Empire by himself. He goes from driving a chair to, in his words, piloting a starfighter. 

We felt like people treated Nate the way we see him. Not with pity or sadness but just treating him like the awesome 8 year old he is. The whole experience was just SO positive. 

This year, Magic Wheelchair chose seven kids who received a trip to Comic Con where they would be given a wheelchair costume.  When Saturday came, it was the hottest day of the week and the crowd waiting to see the kids and their costumes was BIG. The noise and the heat put Nate a little on edge but he was excited.


Nate had two teams work on his wheelchair costume. One was the team of Fon Davis, an incredibly talented group of artists led by Fon, a Big Deal in the effects industry. The other team was the team from tested.com and lead by one of the few celebrities I would ever care to meet, Adam Savage.


Eventually, they lifted the drape and revealed Nate's costume, Anakin Skywalker's Jedi Starfighter. And not just any starfighter, but the one from Clone Wars. Nate loves the show so this made him really excited. When he saw it he shouted, "THIS IS AWESOME!!" Of course Nate shouting isn't very loud, unless your in an 8 car ride together, so it's hard to hear. Hopefully the build team heard it.

Nate with his Anakin mask on taking a few zzzzzs while we fitted his chair.

It took a bit to get him settled in it but once he was in, he didn't want to leave. The people that worked on his costume did a fantastic and thoughtful job. It blows my mind to think that this many people took time out of their very busy schedules to build these chairs to make these kids' lives that much better. On top of that, each child was given a really cool hand-drawn logo.



But that wasn't the end of it. Oh no. The Magic Wheelchair people worked tirelessly the whole weekend to make sure the kids had an amazing experience. Next up, a parade across Comic Con.


If the costume made Nate feel like a Jedi, the parade made him feel like a rock star.
All the chairs lined up and paraded across the front of the convention and it was great. Everyone parted to let them through and then clapped and cheered as they went by. I don't know how it made the other kids feel but it made me, Annie and Nate feel so happy and grateful.

When you're used to flying in space, you need your shades back on sunny Earth

Finally, it was all done...oh wait, except it wasn't. Magic Wheelchair partnered up with another cool organization called For The Win Project that takes kids and puts them in their own movie posters and movie trailers.

All seven of the kids were going to be given their own movie posters.


One photo shoot later and Nate was ready to be in his own movie. Nate got to pick the title, tag line and many of the credits. This was the result:


And here he is with his poster, as happy as can be:


He LOVED it. Nate loves to make movie trailers and direct his own short movies with his toys. So you can imagine how awesome he thought it was to be turned into a Jedi and made into the star of his own Star Wars movie. He grinned from ear to ear when it was revealed.

And it didn't hurt that Nate's poster was revealed by Ashley Eckstein. Ashley is the voice actor behind the fan favorite Star Wars character Ashoka from the Clone Wars tv show.

I mean, look at the smile on this kid's face:


I can't say enough about how amazing this all was. Really, I could type endlessly about how amazing an experience it was. But that would be boring. So I won't. Or will I?

No, I won't

But I will say this; I am completely inadequate as a father for Nate. My short comings are many (and varied) and I don't have what it takes to provide him with the life he deserves. But there are incredibly talented and generous people out there, willing to give up their time and energy to help pick up the slack. Magic Wheelchair and For The Win Project helped pick up that slack this past week and made Nate's life better.




And did I mention that I met Adam Savage? Because I did and I'm sure he totally didn't notice how awkward I was. 




Sunday, July 1, 2018

Ooo Ahh, The Magic Wheelchair

There is an organization called Magic Wheelchair that builds really cool wheelchair costumes for kids and sends them to Comic Con. I first found out about this place a few years ago an thought how cool it would be to be able to build something like this for Nate. But I lack pretty much everything required to make that happen.

Fast forward to this year and Magic Wheelchair is building some Star Wars chairs for a few lucky kids.

I was told by some family that they were accepting applications and they would pick a handful of kids so I submitted Nate's name.  To our enormous surprise, Nate was selected. So, in a few weeks, we are headed to Comic Con and Nate is having some incredible builders turn Nate's chair into....something. We're not sure yet but it's going to be something Star Wars themed and Nate is out of his mind excited.

The organization put together a fundraising video and if you look real close, you can see Nate in it. You can check it out here:


https://www.kickstarter.com/projects/magicwheelchair/magic-wheelchairs-epic-star-wars-fan-experience

Sunday, May 6, 2018

Congrats, you made it!

There was one day, way back when I was in college, that I forgot it was my birthday until my Mom called to wish me a happy birthday. While birthdays for me were great while I was growing up, they definitely weren’t a big deal starting at about age 20.

However, it’s a different story for Nate. As years have gone by, Annie and me, especially Annie, have really wanted to make Nate’s birthday feel special to him. For most people, a birthday is a declaration of, “Hey, we’re glad you're on this planet”. That dictates a certain level of celebration. With Nate though, it’s more than just, “Hey, we’re glad you are on this planet”, it’s also, “you did a great job staying alive this year, congrats!”

This turns his birthday from just a celebration of participation, into a celebration of accomplishment. Very different things and Nate gets very excited about it.

This post is a few weeks late but what're a few weeks between friends. So here are 8 pictures of Nate through the years. P.S. There are more than 8 because I couldn't narrow it down to just 8. In fact, you're lucky it's not 50 pictures. 

One day old Nate. This was the last time Nate slept more than 3 hours at a time.


During one of Nate's first check ups after he was born, he laid on the table in the clinic room and was a ball of energy. He wiggled and squirmed and the doctor put her hands on his head and called Nate perfect and then noting how active he was, commented that he would probably be a great athlete one day.


1 year old: He'd already had one surgery and we were under the impression that we had health issues under control. 









We did not.


2 years old: You think you're cool because you can walk? Well can you draw with both hands! Nate was about 2 years old here.

3 years old: Nate could still sit up fairly well on his own. He got that plush George for his second Christmas and still sleeps with it every night. I think he's too old for it but Annie disagrees. Nate likes it because he uses it to hide his face in case monsters show up.  That's only happened once so I don't know why he's so worried about it. 


Age 4: Nate has really discovered the act of being a mischief maker and fully embraces it. We allow it because I mean, how much mischief can he really get up to. 

Turns out, when you have just enough strength to knock things off of tables, and dial/text people on other people's phones, it's a lot. You can still get up to a lot of mischief.  We had some deprogramming to do.




Age 5: Nate spent his 5th birthday in the hospital with the pulmonary bogeyman, RSV.  It was a rough time but he got through and even had all his presents delivered to him at the hospital. Made for a much better stay than usual. 



The good news is, it's been over two years since Nate has had to be in the hospital as a result of illness. 






Nate graduating from pre-school. Nate got a Thomas the Train toy for graduating. He clutched it all the way home from the store. He had a lot of fun in pre-school and even tried his first brownie there. It was less fun for Annie who also had to attend pre-school. Something she hadn't done for a couple of decades and found she wasn't equipped to handle as well as Nate. 

Though she did enjoy the mid-afternoon snacks.


Age 6: At age 6 Nate's love for babies was at its height.  You can see for yourself in the above picture as he stares adoringly at one of his baby cousins. I could track Nate's growth just by compiling all the pictures he insists I take of him every Sunday with whichever baby cousin he can get his hands on. 



Age 7. What can I say, as much as I miss the sweet little 3 year-old Nate, I love older Nate as well. He talks to us about his life, shares funny stories, expresses his discouragement and makes funny jokes. He's a great friend.

I don't remeber this picture being taken but by the look on his face I can gaurantee he is either planning something mischevious or talking about something mischevious he had done.


We entered the wand store at Harry Potter world and somehow ended up walking out with one. Their sales people are extremely effective. We regretted it about 5 seconds after the purchase and sold it on ebay. 






Finally 8 years old. It seems like a big age and I can't believe how fast it's gone. He has changed in so many ways but I can still look back at old videos, even as early as a few months old and still see the exact same personality shining through.

He isn't an athlete like the doctor proclaimed but that same wiggly, active and curious kid is still there. Besides, who knows how athletic he'll be in 10 years when he gets to strap into an exoframe every morning.