New AMC Awareness Blue Bracelet

Since I sweat constantly, (like I could be standing still & because my body has to work more to simply do that, I’ll start sweating) the bracelet everyone was using to honor, on June 30th a few years ago, as AMC Awareness Day, didn’t last very long with me, since half of it was leather. My little sweat machine soaked right through that & it detached from the sterling silver side of it in no time…

That being said, I saved up some scratch so I could begin looking for a version of a blue Bracelet that might hold up better with me & thought I’d share it…

Plus, I kinda like the more subtle approach to these things. I know, I know it prob defeats the whole purpose of wearing a blue bracelet, but let’s be honest though, if it takes seeing a blue bracelet on my wrist for someone to ask about my condition, then I’d bank that there’s a bigger issue there hahaha

If you are interested in where I got this, here’s the link
(again, I saved up for it):

The other bracelet is from St. John, V.I. & has an interesting story behind it as well. Maybe someday I’ll turn it around & share that story…

Until then, keep on… keepin’ on folks…

~ Ted H.

Learning To Tread Water

It was maybe ’83 or ’84, puts me at around nine or ten, my family & I were heading back from fishing well past James island. It was a bright sunny, summer day, the chop was mild so the boat was in full throttle. I recall my Mom & Sister were sitting in the back two seats, my Father was driving & I was standing on the passenger seat holding onto the windshield feeling the wind hit my body (as I liked to do when it was somewhat calm & going that fast).

We were just coming up on James Island to head around the bend to Taylors Island (Yes the two islands were named James & Taylor, how my Grandfather & Parents found it is another story for another time), anyways James Island was where the campground we stayed it was and where we docked my Grandfathers boat. I don’t believe we had caught anything that day so we were simply taking a joy ride around the islands.

(See it’s a real place & apparently the camp ground is still there hahaha)

Anyway, everyone was happy, the sun was shining bright, I was having a ball standing up on the seat feeling the wind hit me when before I even knew what was going on, I was suddenly weightless hurdling through the air. I hit the water on my back and sank to the bottom, (it was well over my head). I remember feeling the sand on my backside & opened my eyes to nothing but mud and salt water (this was off the Chesapeake Bay, so the water was not clear by any means). Panic instantly took over & luckily enough it was sunny out or I wouldn’t have known which way to go, saw the sunlight blurringly piercing through the muddy water, a ways away, stood up and pushed towards it. Kicking & what seemed like clawing my way towards the light, all under water which now seemed like minutes (it wasn’t, it was prob 5 seconds). I burst out of the water taking my first breath since all this took place, bobbing my head up and down because I hadn’t quite figured out treading water yet (my grandfather had begun trying to teach me how to swim and tread water & i hadn’t actually figured it on the beach). 

I managed to actually get it under control enough to see that I couldn’t see the boat, like at all and i was facing the bay. I think at this point, the panic had set in so much that not seeing the boat or my family made me instantly figure out how to tread water and turn. I managed to spin around completely and saw the boat about 15-20 feet behind, drifting, the engine was off. My Mom was holding onto my Sister in the back and my Father was frantically looking around the water. I was so terrified that when I tried to scream, not a single sound came out of my mouth. So i managed to begin slapping the water as hard as I could while keeping my head above water.

The way i recall it was, my Mom seeing me first and pointing me out to my Father, to which he instantly jumped in and began swimming towards me. Which to me, at that point felt like an eternity, and I was beginning to get super tired, since I was fully dressed with shoes and socks on, treading water for what seemed like forever (this may have honestly been all within 5 minutes, maybe less).

My Father got me and scooped me up and began swimming back to the boat, telling me it will be alright but he was also in panic mode, we all were. He gets me to the boat, my Mom grabs me up as he lifts me and then he climbs in. At this point the boat is drifting, the engine is off and the stirring cable on the drivers side was completely snapped in half. They checked me over as I was shaking like a damn leaf, still couldn’t even speak yet, my father was helping my sister who had caught a fish hook in her leg.

Apparently while we were at full speed, the stirring cable snapped which caused the outboard engine to fully run to one side. Now anyone that’s been on a boat & knows how outboard engines were setup, knows that when that happens, it will put  24 foot boat into a complete tail spin & that’s exactly what happened. Since I was standing up on the passenger side, it launched my little 90 pound @ss into the air into the water. (hence the sudden feeling of weightlessness and then SPLASH)

So my Father began calling the coast guard on the CB Radio & I was on my moms lap, in a towel, trying to get my head together enough to realize what had just happened. As I’m sitting there, in full blown tears mind you, i began to giggle & my Mom goes Teddy what are you laughing at. To which I said, my shoe just floated by, I think the other one sank. It took maybe an hour or so for the coast guard to finally get to us and prob another 45 minutes to tow us in.

We get all the way back into the marina, where my Grandparents met us, since by then they had caught news about what had happened. Well, my Grandfather had called the repair guy on the island, to be there when we came in & had the boat fixed immediately. At this point, I was back in the trailer sitting on my Grandmom’s lap, my mom and dad were making sure my sister was alright after they had removed the hook she caught from the fishing rods flying around during the accident & my Grandfather comes walking up to the trailer, tells my Grandmom to let me go, that we were going back out on that boat.

To which i went into a complete melt down screaming no, and he scooped me up like a sack of potatoes, carrying me on his side and started walking towards the boat in the marina. I’m screaming my head off, kicking, punching, nothing was working he had me. My parents come out from around the main store going “Dad what are you doing?!” to which he replies “No grandson of mine is going to be afraid of the water” (Mind you, this was the early – mid eighties so this type of stuff was a-ok 🙂 )

He gets me in the boat, grabs the cooler, throws it in the back, starts the engine which completely nulls out my cries and begins to navigate back out onto the water. Now, he doesn’t take me back to where the accident happened between the two islands, no no… he takes us straight out into the channel of the Chesapeake Bay, turns off the engine, walks to the back of the boat, opens the cooler, cracks open beer and goes “Well Teddy-Bear (he coined that one for my father and then since I’m a jr, for me & still to this day only a very select few have said that to me without bothering me & telling them not to), if you wanna get off this boat, you better drive it back into the marina and dock it” 

It definitely took my a minute or so to actually grasp what he just said because I was completely terrified. I managed to muster up “What?” as we are now drifting down the channel, in the middle of the Chesapeake Bay. He goes “I have this cooler full of ice cold beer and I plan on drinking them until we get in, which means, I can’t drive it but I can show you how” Now I’m beginning to get it and being nine or ten years old and told you can drive your grandfathers boat all the way into the marina and dock it, that was simply the coolest thing I could have ever wanted to do at that age.

So I very slowly slinked from the passenger seat into the drivers seat and he showed me what all the controls did. I turned up at him and said, “ready, you better sit down”, turn the key, the engine kicks on, I grabbed the steering wheel and threw the throttle ALL the way down to which he predominantly yelled “SLOW DOWN!” I don’t know about anyone else’s grandfather but when he yelled, you just about shit your pants every time, even though it wasn’t a negative yelling, he simply had that kind of voice where you would literally, nearly shit your pants when he did yell (& it wasn’t that often) To which I jumped and automatically turned the key off and cut the engine, put the throttle back into neutral & we were then drifting again, in the channel. I apologized, but damn that was awesome.

He mutters the famous muttering word whenever something happened that he didn’t like under his breathe “BALLS” Then goes, ok start her back up and slowly use the throttle forward, keeping your other hand on the steering wheel. This time I wasn’t about to gun it, knowing very well I didn’t want to make him mad again. Matter of fact, I was going so slow this time, he even said “Are we even moving, give it some juice”, as he cracked open another beer. So gradually I begin to bring it up to full throttle and this thing could move. He’s showing my how to navigate threw the crab lines that the crabbers left out, see if you ran over them, it could either cut their lines or get spun up into the engine essentially causing you to cut the line (which was very illegal)

I asked if we could go across the Bay to the other side to which he asked “how much gas do we have in the tank?” it was full, he knew it was, he had it filled up before taking me back out & i’m pretty sure he wanted to kill all those beers on the cooler, so we did & then headed back in.

As we got closer to Taylors Island, you can see my parents behind the main store facing us they waved and couldn’t believe that my grandfather was sitting in the back of the boat and I was steering her into the marina. It had been maybe a coupe of hours since he had carried my (90 pound @ss soaking wet) kicking & screaming into the boat, so I’m sure they were not too happy about it.

I get her docked into our slip and my Grandfather ties her up, then lifts me out and we get back to the trailer and he goes “See now he’s not afraid of the boat or the water” since i was all smiles, telling them about what we had done.

After that I was a fish-in-water ¯\_(ツ)_/¯

~ True Story, Dedicated to my Father & Grandfather Houser ~


AMCSI recognizes Rare Disease Day.

Arthrogryposis as a condition overall affects one in 3,000 babies is considered rare. AMCSI supports any initiative that brings more focus on rare medical conditions, so as to motivate more research funding and development of social programs. Therefore, AMCSI recognizes Rare Disease Day.

AMC Support Linktree Social Links

#RareDiseaseDay #awareness #advocacy #research #hope

Genetic Test – A Strain Of Escobar

I recently had a genetic test to determine which form of AMC I may be. Maureen Donohoe PT, DPT, PCS petitioned for me to have this genetic test through Bamshad Laboratory:

Aimee Schantz, M.Ed.
Research Coordinator, Bamshad Laboratory
Dept. of Pediatrics | Div. of Genetic Medicine
Tel: 206-221-3849 | Fax: 206-221-3795

It’s a very simply procedure, they sent a kit directly to my home. Some spit in a tube, sealed the container & sent it back. A few months later, the results were in.

Reenee transcribed the results below:

Your official gene is Two potentially compound heterozygous frameshifts in CHRNG: NM_005199.5:c.459dupA:p.(Val154Serfs*24) and NM_005199.5:c.597_598delCT:p.(Phe200Hisfs*97). We did not confirm inheritance however given phenotypic match these variants in CHRNG are likely causal. The (20 CHRNG genes appear to be the reason for this.

That translates to, you have a difference on your 2nd chromosome on the q end of the chromosome (2q37.1 ) that caused your type of contractures.

Your mom does not have that difference. 

You do not have the lethal version, in fact you have a very mild version because 2 very smart genetics (Dr. Hall and Dr. Bamshad) did not think you had it based on your respiratory status and your age.  They trusted me. Anyway, escobar is an acetyl choline disorder on the same area of the gene as myasthenia gravis. For those who have severe involvement, they do well with a drug called methimazole which makes people (and animals) magically stronger when they take it. You are not that person but if you wanted to google youtube videos of before and after the drug in dogs, it is pretty remarkable.

Your take home messages are that you are at risk of respiratory issues so if you get sick from a respiratory standpoint, it is important to address it quickly. My area of ponder is how acetyl choline works. It is a component in creating muscle contractions but is also something influenced with pain medication. I believe that is why you actually get worse when on pain medications.

Maureen Donohoe PT, DPT, PCS
Clinical Specialist at Nemours / AI DuPont Hospital for Children

Some interesting information to share, especially if anyone else is remotely close to my version. Plus, I think it’s good to share where this test can be done, for those that also want to find out how it may have happened to them. It also is really important for any medical physicians to have, moving forward, so that they can better treat myself/you.

All in all, my main reason to have this done, was to attempt to help anyone behind me to receive more information about this version of AMC. I would like to thank, once again, Reenee for petitioning me to have this test done. 

So, not only can I tell people “I am screwed” (I have 2 rods & 12 screws in my thoracic spine) when asked how I am (from people that don’t really know me) but I can now add “I am a screwed Cartel Boss of Escobar Syndrome” since Reenee has always said that I am the oldest she has ever met, in my position/version of AMC, so I have THAT going for me ¯\_(ツ)_/¯

~ Ted H.