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.