School News

We got word from Talen's teacher today that he is now reading at grade level. Since the beginning of the school year, he has jumped five levels to catch up with his classmates.

In Kindergarten, he got knocked out of commission with pneumonia and a long hospital stay. Last year he went out with a broken femur. Both happened right around the January/February time frame, so we're creeping back up on what we're now calling "The Cursed Season." Everybody keep your fingers crossed for us over the next few months.

I'm sure that his teacher this year (Mrs. Grimes) deserves some of the credit, and Izzy has been sitting and reading with him after school (which might be the biggest difference). Most of the credit is Talen's, though. In so many ways he works harder than everyone else just to maintain equilibrium, and he does it with such a positive attitude. What an awesome little guy...

2013 Q&A with Toomee

Last year I asked Talen a bunch of questions and posted them up on the site (last year's Q&A here ). No real thought was put into the questions, just figured they might get funny answers. Tonight I asked him the same questions, and got some different responses.

Link to the 2013 questions and answers.

Nothing else to add really. His answer to, "What makes you sad," gets a frown, but he doesn't skip a beat. Check it out if you have a few...

Talent for Talen - The Sequel

The follow up to last year's show was a few weeks ago at Tremont, and I wanted to break from the silence to mention how things went and thank a couple of people.

Event recap starts after the jump, but here's a link to the album from the event.


Talent for Talen - 2013

Caramel Ameliorates Dystrophic Pathology

Ok, that's a misleading title. It's actually a trace chemical found in caramelized sugar, but it's semantically accurate.

University of Washington Study

Prosensa Webinar

Parent Project MD (www.parentprojectmd.org) organized a webinar with Dr. Campion from Prosensa to discuss their exon skipping compounds. I wanted to post some notes to the blog, but had to split my attention a bit so it's not exhaustive. If I'm being honest, it's probably nonsensical, but here it is anyway.

Bowman Birk Inhibitor Concentrate

At this rate, they'll have a cure before I finish going through treatment possibilities. Nothing to do for it but keep moving forward, though.

I finished the page on BBIC. You can read more on the main site: https://sites.google.com/a/toomee.org/toomee/treatment-info/over-the-counter/bbic

All the Pics (No, Really)...

Ok, the previous post's title was a lie. Links to the albums in their entirety are after the jump.

Disney Trip - Days 6 - 8 (Plus All the Pics)

I just spent a little bit of time organizing all of the remaining pictures from the trip so I could post links for anyone interested. I'll stick the links in the next post. There are some videos mixed into the albums. I didn't get a chance to delete the blurry pictures and accidental videos yet, so don't get mad if you have to wade through a dozen or so short videos of someone's feet.

I'm starting to get trip report fatigue, and I'm guessing no one will be let down if I summarize the last couple of days into a single post. So, here is a pictorial "executive overview" of the last few days.

Disney Trip - Day 5

Wow, two months since the last post. Work has been insane, and I've been spending a lot of my free time working on the house. Honestly, by the time I sit down I'm usually beat.

I decided to skip posting most of the pictures in-line with the post. It takes way too long, and I'm having trouble keeping up with posting new entries as it is (evidenced by the lack of posts since April). It might be because I uploaded the pictures to my other google account, and the big G seems to have trouble swapping accounts in certain applications (blogger and picasa are two I've noticed), so the whole process becomes much more onerous. I will post the links to albums once I've finished the trip notes.

Anyway, here's the skinny on day 5 of our trip to Disney (Epcot).

Disney Trip - Day 4

Here's the next Disney post, maybe 15 minutes after the last post. How is that for content generation?

Day 4, well, day 3 really, we had reservations at the SciFi Diner at MGM, so our destination was set when we dragged ourselves out of bed. After yet another late night spent playing games in the arcade, we once again got a late start that morning. I believe we finally got our gear together and made it to the bus stop around 10AM. The whole way through the resort we were stuffing snacks into all available facial cavities with Lisa grumbling that she would really like to eat a real breakfast for once.

The bus picked us up at the terminal and we walked through the gates at MGM somewhere around 10:30AM.

Arginine

"Where are the rest of the Disney posts?" Right?

I'll get around to it. In the meantime, I'm trying to reorganize my notes. We are coming up on the 1 year anniversary of Talen's diagnosis, and just passed the 1 year anniversary of Chris's murder (another story, maybe I'll post another time), and I'm trying to pick back up some of the things I dropped last fall.

I'm cleaning up the links, putting the originating organization and date on each. I am also putting a brief summary of each treatment on the page (no more than a couple of paragraphs) and a super-short synopsis at the top of the page.

So here's the first one, going alphabetically, in the OTC treatments: Arginine

MDA 5K Run

I got this in my inbox from Lucas Coe, who is one of the coordinators for the MDA in the Charlotte area:

Hello there!

I wanted to share a great opportunity with you.  One of our Camp Counselors from last year’s Summer Camp was so touched by what MDA does that she has started a 5K to raise money for MDA.  If you are like me, you probably don’t run yourself, but know people who do, so I wanted to send this along so you can share with any friends you have who are runners.  If you have any questions, please let me know!

From the Camp Counselor, Lisa:

After volunteering at MDA summer camp, I really wanted to find a way to raise money and help more. The campers are so awesome and, as a Winthrop cross country and track athlete, the best way I could think of was to have a 5K fundraiser titled "Run For Those Who Can't." This race will be held on April 27th. Check in starts at 8am and the race will take off at 9. It will start from the Winthrop coliseum, in Rock Hill, SC, loop around a lake, and will finish on Winthrop's mondo track. Just like camp this year, there's a superhero theme for whoever wants to dress up! The last day to sign up with the lower pricing and get a t-shirt is April 13th. It should be really fun, and of course, is a great cause. You can sign up through the PayPal link at the event page: https://www.facebook.com/events/419556831433530/

Lucas Coe
Lucas S. Coe
Health Care Services Coordinator
The Muscular Dystrophy Association
1515 Mockingbird Lane # 701
Charlotte, NC 28209

Lucas has been a lot of help over the past year, and we didn't make it to the MDA Muscle Walk in March, so I figured the least we could do was pass the word along. Lisa has been wanting to run in a 5K (she's talking about doing some zombie run), so maybe if a few other people are interested I can get her to sign up also...

Disney Trip - Day 3

Day 3 of our trip was actually our second day at Disney World in Orlando. We had made a number of reservations at restaurants *way* ahead of time, so our itinerary was defined in terms of which parks we would be going to. We hopped out of bed a little late due to our late stay at the Magic Kingdom the day prior, shoved some snacks in our faces, and rushed out to the bus stop to head back to Magic Kingdom.

Disney Trip - Days 1 and 2

I thought it might be worthwhile to put up some of the highlights from our Disney trip. After the initial shock of Talen's diagnosis settled in and we had time to absorb what it meant, we started to worry about things that we had assumed could be postponed until we were in better financial shape. The fear we had was that, by the time we were able to do some of these things, the disease would have progressed to a point where it might be difficult, if not impossible, for Talen to enjoy it.

Fortunately, we had a lot of people around us who stepped in and made a trip to Disneyworld happen a lot quicker than we could have ever managed on our own. I feel like the list of people we have to thank for this trip would warrant a post of its own, but at a minimum I think I should acknowledge the help we got from Jon Harpootlian, Shannon Daggett, Brett Butler, and all the folks from the Crown Point bus stop.

So here are the first couple of days...

DMD - Cognitive Impact (Pt. II)

Thursday we meet with the intervention team at Matthews Elementary, so this seems like a timely follow up to my previous post skimming over some of the biological aspects of DMD's cognitive impacts with a discussion of observed academic issues and related case studies.

Prior to diving into a discussion of objective observations, though, I wanted to share some of our personal experience.

DMD - Cognitive Impact (Part I)

For the first six or eight weeks after Talen's diagnosis, my need to research the disease was consuming. I still have a 2GB dropbox full of articles I saved for later review, and I've only scratched the surface in porting those articles to the site I started putting together.

I read articles about the current understanding of the disease, and boy, did I read articles about treatment options. In my mind, there was something lurking somewhere in the corner of some forgotten study or trial that held the key to pulling my kid out of this mess (Spoiler: There isn't, or if there is I haven't found it yet).

What I didn't spend a lot of time on initially was the peripheral impact of the disease, which has received less attention in the past than the physical impact of DMD from a research perspective. I had some understanding that the affect existed from skimming through articles, but when I ran into some resistance to the idea that DMD had anything more than a physical effect in a discussion with Talen's school, I knew a more diligent investigation was warranted.

New Research on Dantrolene

I noticed recently that a lot of the research on exon skipping has started to focus on a new, non-morpholine based compound named Dantrolene, which is currently FDA approved as a muscle relaxer.

The first few times I came across it I knew I had heard the name before, though if I'm being honest, names start to blur together at some point. I did eventually remember where it was that I had first heard of Dantrolene, though.

You're thinking about sticking this in your ryanodine receptor right now.

Guess Who is Back on His Feet?

We went to our follow up appointment at Levine's Pediatric Orthopedic Surgery on Wednesday (Feb. 13th), and Talen got the green light to get back up on his feet and start walking. Of course he had to immediately give it a go, and he was shaky but demanded to walk out of the doctor's office.

Pics after the jump...





Ok, I'm attempting to attach the pics to this post in the ios blogger app. Am I doing this right? Oh my god.

One small step for Toomee

He is struggling with walking for more than a short distance, and the stairs are more of an issue now than ever, but given the six weeks off of his feet and the degree to which the DMD accelerates the decline in muscle tissue during periods of inactivity, it seems almost miraculous that he is even standing.

He seems to want to keep his foot turned outward right now, which you can somewhat see in the picture above. Lisa is going to be scheduling visits with Scott at the MDA clinic to see about physical therapy. Hopefully the struggle to get fully mobile will just be a temporary thing. If I'm being honest, though, my biggest fear regarding this whole situation is that the fracture and subsequent period of time off his feet will trigger a rapid decline in mobility that he won't be able to recover from.

I tend to be pessimistic though. Talen only seems to be capable of looking on the bright side, so I'm trying my best to follow his lead.

War never changes...

He's back in school now, and that's a whole other bag of worms. He has been working hard to get a handle on literacy skills, and before the break he was making pretty big improvements. It's hard to say how much this might set him back.

But worries and doubts aside, the main point is that he's back upright and out of the wheelchair. If there is a silver lining to be had, it came in the form of a discussion with the orthopedic surgeon.

I asked her about the nature of Talen's break. It seemed very abnormal to me, and she agreed that it was not typical. I asked a number of questions about the general lack of bone density in kids with DMD, because I had been told by one neurologist that DMD patients frequently suffer from osteopenia caused by the muscular systems inability to stimulate bone growth (similar to how a sunflower will generate a thicker stem when subjected to wind or some other outside interaction).

The orthopedic surgeon told us that with Talen's late diagnosis that he probably wasn't suffering from any sort of osteopenia, that it is typically seen in kids who are so severely affected that their diagnosis occurs very early.

We will be meeting with his pediatrician at some point to check vitamin d levels and other indicators that will verify, but this is promising news.

Exon Skipping - Additional Reading

If you're anything like me, you get all hot and bothered about eukaryotic initiation factors and you're just dying to read more about exon skipping. The rest of you need to get with the program. Here are some links for anyone interested in diving deeper into exon skipping.

(Links after the jump)

Exon Skipping

When you tell someone that your child has Duchenne Muscular Dystrophy, more often than not you get this blank look from them while they try to gauge your demeanor to figure out just how serious it is. Most people have at least heard of the disease, but the impact of DMD isn't something the average person tracks until it affects them, and it's difficult to reconcile that someone as happy and full of energy as Talen could be afflicted with a terminal wasting disease.

Once the severity sinks in, one of the first questions people ask is, "Can they treat it?" Currently the answer is, "Not really." There are a number of treatment options under investigation, and I have been attempting to catalog avenues of research at Toomee.org. I have not had time to work on it recently, but I'm committed to comprehensively logging all of the research that is publicly available.

However, there are a couple of items that I think are very close to being accessible which bear addressing specifically. I'll dive into details after the jump, but the two main avenues of investigation that we are excited about right now are exon skipping and utrophin upregulation. We'll dive about an inch deep into exon skipping here and talk about utrophin in another post.

MD Care Act

The question of the day comes from Joann, who asks, "What the flip is up with the MD Care Act, and why are people posting pictures of sick kids on my Facebook telling me this is important?"

I'm kidding, that's not what she actually said, but it's a valid question nonetheless. Here's a history of the MD Care Act and why it's important right now.

(SPOILER: Advances in DMD research require funding and organization that would likely be lost if the act was not re-authorized. If you aren't a fan of rambling prose and bullet lists you can probably stop here. For the rest, details after the jump.)

All The King's Horses (PT II)

Talen pushed the call button attached to his bed and the nurse buzzed back to ask if she could help him. Talen held the intercom up to his mouth and announced, "I need more morphine."

The nurse laughed and told Talen she was on her way.

Monday, in the afternoon after Talen came out of surgery, we started to see him returning to his normal personality. Somewhat. He was still a little irritable, and prone to demanding that select people leave his room, but he was starting to perk up again. Later that evening, while we were going to sleep, I heard him making the little beat-box noise he makes when he's happy and I started to think that things might be getting better.

That night the nurses were saying that if he could start weaning from morphine to lortab that we might be able to go home the next day.

The next morning I got up and walked the greenway to work. Lisa sent me pictures throughout the day. In a single day following his surgery, Talen was already getting out of bed and into a wheelchair. By lunchtime, he was rolling around the children's ward. I left work at 4:30PM when Lisa called to tell me that we were getting discharged. We ended up leaving the hospital around 7:30PM with a stack of pillows stuffed under Talen's immobilizer cast to keep his leg upright in the van.

Last Wednesday (1/ 23/13) we returned to the orthopedic surgeon's office at Levine's to follow up. At this point his leg seems to be healing fine. The doctor removed Talen's immobilizer case, but cautioned us that he won't be able to put any weight on his leg for at least another three weeks. We asked about returning to school, and the doctor said that the main concern is going to be getting him to the bathroom. If the school is able to make allowances for that he can return, but Talen pees a lot and Matthews Elementary seems to have a very limited capacity to provide resources.

We're not sure yet how this will affect Talen's mobility. All available information seems to indicate that extended periods of bed rest can trigger significant deterioration, but so far he still seems to have a lot of energy. I'm not sure if it's just my perception, but he certainly seems smaller, more frail than he did before the fall, much the same way he seemed to after his bout with pneumonia last year.

A part of me wanted to react like the world was coming down around me, and there was a few days there that I walked around with a black cloud looming over me. At some point, though, I realized that maybe I have some right to feel despondent, but in the meantime Talen was the one who had to cope with his leg snapping from slipping on a pair of pants in the hall. Yet here he was laughing and making poop jokes while I sat around like a teenager with a Cure record.

The Thursday after we got home from the hospital, I got home from work a little late and Talen was the only one still up. He asked me to play video games with him for a little bit before bed, so I sat on the floor and listened while he chirped about this thing or that. I leaned back and looked at him, happy as a little clam, and I told him, "Buddy, I think you're pretty awesome. I don't know if anyone else could have their leg hurt as badly as you did just a few days ago and still be as happy and upbeat as you are right now."

Talen looked thoughtful for a second and then he told me, "My leg wasn't hurt that bad..."

All the King's Horses (PT I)

You reach this state of mind when you're looking at your son on the ground with his leg twisted back behind him at an unnatural angle that you can never fully enunciate. It's this perfect state of panic that threatens to overwhelm you, all while your forebrain is screaming at you to pull your shit together because someone is completely depending on you to take care of this.

I was hanging shelves in the upstairs closet when I heard "The Fall." One second Talen was running down the hall, then I heard a bang followed by crying, followed shortly after by Lisa screaming for me to come to the hall where I found the previously described scene.

The trip to the hospital was surreal. When you start to feel the panic rising in your throat you find that yelling at people can sometimes help push it back down, or I should say I sometimes do (and I think Lisa does also though she'll probably deny it). So we spent a lot of the trip from Matthews to Levine's Children's Hospital alternating between loud arguing and pestering Talen to make sure he wasn't going into shock. If you know Talen, you know that the only time he's ever really quiet is when he's sleeping, but he refused to respond to us in the van. The most we could get from him was an irritated gesture of finger to lips and a quick shushing...

Catching Up (Bullet List Version) and December's MDA Clinic Visit

I think it is probably fitting that 2012 transitioned to 2013 in a tempestuous fashion, given the earth shattering way that 2012 up-ended our lives. I had intended to get on a more regular schedule with updates and changes to the site, but life really hasn't been conducive to a quiet half hour or so at the keyboard. To catch everyone up with the Cliff's Notes version of events since Halloween:

• We went to Disney (thanks to some really awesome friends and family)
• I got promoted to Director of Core Systems and Telecommunications at CPCC
• The entire family got food poisoning at Showmars
• Then we all got the flu
• We got to see some of our favorite people over the holiday break (and Jordyn did drunk pushups)
• Talen went for his second visit at the MDA clinic (first in the full rotation)
• I wrapped up a project at another university in a less than satisfactory manner
• Pulled decent grades out at the last minute for fall semester, and signed up for Marketing Management and Professional Ethics for spring.
• Talen slipped and broke his femur while walking down the hall
• I went to ACUTA in Tampa and caught pneumonia

That should get everyone caught up in less than five minutes. I'll expand on the MDA clinic after the jump, and add posts on other pertinent items another time.