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.

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#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.

Going To ER With AMC

So if anyone with AMC has ever had to go to the ER for ANY reason, you know exactly what that means.

• You have what?
• Can you spell that?
• Hold on I’ll be back (while they go and look it up and realize there’s hardly any information out there).
• Then return, and say ‘so tell me more about the condition you were born with’.

Then, after all of that, you might get to actually talk about why you are really there. Which by this point the expressions of “really don’t know how to treat you’ or ‘I am really afraid to touch you or attempt to treat you’ is very evident. Only to be HALF treated, because they are too un-educated about AMC and are naturally afraid to do ANYTHING. Which I totally get.

They never truly listen to you about what your saying, about your own body, which they can’t even find research on, well enough to think outside the box of the text-book treatment. Suddenly you are ALL text-book treatment and not an individual person (you get treated less then someone without AMC) who requires totally different types of treatment or to simply be heard because even though they are not familiar with AMC AT ALL, you receive less then basic treatment because you are not the Dr. You only have lived with the condition your entire life, have done more internal research then anyone should ever have to do about their own bodies. Yet when you tell them what you need, you get treated with attitude because, god forbid, YOU actually know more about your own body then any medical book. Even better yet, get yes-ed to death and then get no consideration at all for what you just told them about what you needed and get still get the less than text-book treatment, then on your way.

It’s absolutely pathetic, aggravating and annoying as hell to have to deal with specialists who:
• Don’t listen because THEY are the Dr.
• Can’t see past the obvious and realize you actually are a person who knows your body better then they or any text book they have ever read does.
• Are not trying to be the ‘bossy’ patient by telling them what you need when you have to go to ER.
• Then only to get told things like ‘yes we will make it work for you so it works with your body’ only to receive nothing but the textbook treatments, if your lucky and sent on your way.

This has recently happened to me AGAIN and has always happened, every single time I have ever gone to ANY ER. 

Aside from being in any sort of trouble or pain, getting passed ALL of that just to get to the main reason you are there is absolutely ridiculous.

Not sure what the answer is to all of that, or if any of the Drs/Nurses ever looked into AMC further after I left, but if you have a network of Ortho’s/Surgeons/PTs that DO know about this condition, I recommend you speak with them about whats going on. They are few and far between but they ARE out there.

Basically this was to inform those with AMC who have yet to go down the path of needing to go to ER. Those who have, may be able to relate, at least I hope so or I sound like a complete asshole, I can only speak from my own experiences. hahahaha

~ Ted


What type or brand of shoes best work for you? How many different types of shoes, sneakers, boots have you tried? Have you tried lifts or inserts in your shoes (if you are on your toes, like I am)?

My feet have been fused 3 times each, to get them in front of me, so shoes that work well with them is not always an easy task. Being I am  still on my toes, I always needed to try and find something with a lift. I found Dr. Martens to work best for me, even though some say they are heavy, I would rather have soar legs from walking then soar feet any day.

When I was younger I did the research and found out those shoes were created by Klaus Märtens, the story goes that he injured his ankle on a skiing trip, that the standard army boots were too uncomfortable and created more comfortable boots with soft leather and an air-padded souls. I thought, well if it was good enough for that guy, they should be good enough for me. I have worn nothing but them ever since.

I will be trying out some new lifts in my sneakers. Hopefully the material being used these days is nothing like the dense, hard material used when I was a kid. Those lifts back then, caused even worse issues with my toes. They gave no resistance and did not mold to my feet at all. Instead they caused more stress on my ankles, knees, and hips. It is amazing how such a small adjustment can literally change everything from your toes up. I will let you all know how they work, what the benefits to them are, and what the benefits may not be. Stay tuned.

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Adventures and Travel

What I would like to know is how often do you travel? How often and how well is traveling for you? Any pointers or things you have encountered that made it much easier for you and less physical?

I will share my experiences traveling to get the ball rolling. I am very interested in your thoughts on this topic, so please feel free to comment and no worries. Thank you.

I know from my own experience, because I work part time with close friends, since my time these days, is spent needing days where I can’t make it to work or need to switch days due to appointments. My close friends have a company that is able to work with me and around my schedule, unlike a company situation. Totally another topic.

Anyway, back on track to this topic ahahaha. I work a part time job and this job requires traveling, on planes. Once I am on site, I am not doing anything strenuous or nearly as close to what I used to do before my spine surgery, but I am very happy to be back doing what I love.

That being said, I have learned to travel as lite as possible, my luggage is the size of a carry on and I still check it. It would completely wear me out to lug that through the airports, lift above my head on the plane (which I could barely do before my surgery and definitely can not do now). I ask for help when I feel I can’t do something, I have asked to be put through security with help because I can not stand in those lines like that anymore without extreme pain. I slowly walk through the airport and arrive earlier then I need to so that I am not rushing because rushing is not an  option for me at this point.

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Define Your Pain Levels From 1-10

As I am sure you have been asked, time and time again “Please rate your pain from 1-10, 1 being the least and 10 being the worst, how much pain are you in?” Now, I would like to hear from you on this subject because my first thought has always been this:

First, they would need to grasp what my definition of what my 1-10 is. So I have explained it as such, “You know when you have worked out really hard, or maybe utilized muscles in a different way for an entire day and how soar your body is the following day? Well that feeling, for me, that’s a good day, as in, let’s go run threw the fields and jump and play So how does one actually rate that on your scale of 1-10?”

So has anyone else figured out a different way to explain that to someone without Arthrogryposis? Penny for your thoughts?

Also, as you have aged, has your tolerance weakened? I noticed lately my joint pain is greatly increasing. From the sharpe, stinging sensation that could last for a few hours to a few days, to the un-easy feeling of the joint just needing to crack but never does. That pressured feeling that only gets relieved by cracking or popping it but no matter how much you try to stretch it, it just will not let up.

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What is Arthrogryposis Multiplex Congenita (AMC)?

Here is the skinny, Arthrogryposis Multiplex Congenita (AMC) is a congenital neuromuscular disorder characterized by muscle weakness and associated joint contractures. At birth, babies frequently have clubfeet and flexed wrists but can also have contractures of any joints in the body. Muscle weakness is associated with a defect in the anterior horn cell of the spinal cord. This area of the spinal cord can be considered the power plant for the muscles. Since it supplies the electrical current from the spinal cord, to the motor nerves which feed the muscles which they move. AMC has similar basis of anterior horn cell disease as polio does and with aging, it has similar problems with over use issues that polio does.

Little is published about Arthrogryposis and aging but of the few articles, it supports, as the person ages, they become much more disabled.

What we all know, who live with this, is that it hasn’t stopped any of us from doing what we wanted and how we wanted. From my perspective and possibly some of yours, I learned how to crawl, talk, walk, tie shoes, run, jump, ride a bike, think for myself, go to schools, drive, go to college, find a job I love, just like everyone else. The only difference, aside from the obvious, I can truly say, I figured it all out as I went, as I am certain many, if not everyone else has.