Category: AMC

AMC Awareness… It’s Our Story

To donate, please go to: Arthrogryposis Multiplex Congenita Support, Inc.

AMC Support Linktree Social Links

#WearBlue #AMCawareness #ItsOurStory

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To donate, please go to: Arthrogryposis Multiplex Congenita Support, Inc.

#WearBlue #AMCawareness #ItsOurStory

Wear Blue… June 30th AMC Awareness Day

Thanks to Ani at AMCsupport for dealing my design revisions during this process. I’d be surprised if I get asked to design anything else in the future hahaha but hey life goes on I suppose…

To donate, please go to: Arthrogryposis Multiplex Congenita Support, Inc.

#WearBlue #AMCawareness #ItsOurStory

AMCSI recognizes Rare Disease Day. www.rarediseaseday.org

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.

www.rarediseaseday.org

AMC Support Linktree Social Links

#RareDiseaseDay #awareness #advocacy #research #hope
#TheresPowerInJoinedVoices

Workout

I was always a fan of keeping my core tone, as much as many may think I never worked out, or ate a lot, the truth is I never really felt the need to tell people about it. Since todays craze in the digital, social media footprint is to let people know that you workout but to even show them screenshots of the workouts & maps to where they ran/walked/biked, here it is:

Be fore my 2013, I never really walked distances, aside from working trade show events. Anyone that has ever done that, knows you definitely get your steps in working at convention centers. I did however always worked on my core & used my own body weight to keep toned & my muscles active. As a Professional Graphic Designer, most of my time is sitting on my @ss, so it was always important to me to continue a workout routine & constantly stretch, ling after I left Alfred I Dupont in Wilmington, Delaware. I simply never shared it or talked about it, because it never even crossed my mind to do so.

It turns out that me keeping up with all of that was very beneficial when my spine started collapsing on itself in 2013. Keeping my core strong was a key element to my physical recovery & I have recently begun a new routine.

I started using an app called Just6Weeks. It has the features I was looking for, along with routines that can be scheduled & work at my own pace. I was looking to keep my core tone along with upper back & arms & this app works for me.

I also began weekly walks at the strongest pace I can, taking the longest strides to help maintain & gain back a strong tolerance in fatigue (ever since the spine surgery, fatigue in doing anything was a constant battle). For this I use MapMyFitness, it records my walks & shows maps, with information about each walk that help me improve each week. For me, it also is somewhat of a push because I can see where I was stronger & weaker which helps me make adjustments on when I walked, was the weather a factor, was the time of day a factor, washy pace quicker or slower, what was my distance, etc. etc. 

As anyone knows with AMC, proving theories wrong is what we do best & I am a firm believer that if you think you can do something, you are right … & if you think you cannot do something, well, you are also right.

This may sound strange but I also encourage myself before each workout session by telling myself things like :you got this” “you can do this” “own it” beforehand to set my mind in the mode I want it to be in.

I also do this trick for a workout where you are counting to a specific #, as in push-ups or sit-ups – I count down instead of up & towards the end I also think about & vision myself a few #’s ahead.

It sounds strange, I know for me though, it works. Before I know it, I have reached the goals of the #s setup by the Just6Weeks app. without feeling overly strained & I think it is a complete mental game. If I’m close to reaching the end count & don’t trick myself by thinking ahead or even beginning to count up, then those last few push-ups are the most difficult to accomplish. However, when I began using those mental tricks, as I was counting each one down, I noticed those last few were not as difficult as they used to be because I had already envisioned myself being there.

~ Ted H.

Here’s seek screenshots of what Just6Weeks shows you as you begin their routines & also a screen shot of what MapMyWalk displays:

Just6Weeks:

MapMyWalk:

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
Email: aschantz@uw.edu

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.

Specialized Physical Therapy

Specialized Physical Therapy

At SPT, we emphasize a hands-on individualized approach for our patients. We stress quality of care not quantity of care allowing us to achieve the optimal results that you need and deserve! Our clinical staff are highly trained and skilled and are ready to help you improve your quality of life.  Read our BLOG.

If anyone in the S. Jersey, Cherry Hill, Burlington or Princeton areas & are in need of PT, I highly recommend them, very professional, knowledgeable & relaxed sessions…  #SPT

Plant Based

Going Plant Based Was Like Living Night & Day

I wanted to share something I had never tried before, thinking what do I have to loose? The answer to that, simply, was… nothing at all.

I recently switched my entire diet to a fully plant based one and instantly noticed drops in my everyday pain levels of around 5, that I have lived with my entire life, that are now down are a 1. A 1!

I had truly given up on the thought of of ever being pain free and now it may actually be within my grasp.

Now, I can’t speak for anyone else because i understand that everyone is different, aside from the 400 different variations of AMC. I do want to share with you what I have done and the results I have found.

I went fully pant based a few months ago by joining PurpleCarrot.com (@PurpleCarrotXO) so I could learn how to cook this way and get a better understanding of things. I also had friends recommend me adding things like Chia & Flax Seeds to my diet. 

Chia & Flax Seed Benefits:

I also watched What The Health on Netflix which began to validate what I was learning to be true. So without even thinking about it, I made the switch because I was not convinced that Big-Pharm was the way to go. There had to be a healthier way to alleviate the physical pain i was in that didn’t involve prescriptions and this was something I had never tried.

I instantly noticed a drop in pain levels, so much so, I stopped taking inflammatory meds & tramadol for pain. I had more energy, I wasn’t tired after eating and actually enjoyed cooking these new meals. Now it may seem extreme to simply switch over instantly but when I make a decision, I do it. I was also going to PT at Specialized PT twice a week and they highly commended me on switching to this diet and said the improvements for my body type will be tremendous and they have been.

So for those who are still living in pain and on meds, I highly recommend doing the research, check it out for yourself. You honestly have nothing to loose accept taking medications and beginning to live pain free. 

Applying for Disability

If anyone has never required or needed to apply for Disability (SSI or SSD) then, may you never, have to feel the roller coaster of emotions that will certainly make you upset, piss you off, make you want to cut and run, or even throw in the towel. Understand this, NEVER GIVE IN!

Being that I was not one to ever lean on AMC or take advantage of a system that is designed to help those in need. Unlike (and this is a guess) say 90% of the population absolutely abuse and use the system. Which, by the way, caused someone like me, with a real genuine situation to have to fight, re-live every single detail over and over again as to why I am filing, have to file twice due to the lack of a proper attorney the first time through, find a real Attorney (MaddenTufanoLaw.com), re-live the entire situation all over again, fight some more, for 3 years. All while recovering, regaining, relearning, rebuilding, getting off some of the most deadliest medications on the planet and becoming stronger physically & mentally, while keeping my head afloat financially (robbing peter and f’ing paying paul) until the situation I am currently in is understood.

That I am in fact, not attempting to scam the system, that I in fact, require the services that our nation provides for those who can no longer fully work to the ability that they once did due to a symptom that I was born with (AMC), that I in fact had to mentally battle with & accept the fact that this is not going to get any better.

There is so much that I have learned over the past year, once I was clear headed from being off the medications, that I really don’t want to get into my details or trials and tribulations. I simply want you to understand that there are a few things that you need to know. It may help you better get a grasp on this process.

First, be prepared for the long haul, this will very rarely happen quickly, I have heard stories from people that have said theirs went through relatively smoothly and within 6 months. I have also heard Big-Foot was seen at Walmart buying flip-flops.

Second, find the correct Attorney, preferably one that understands the situation/condition that you are filing for. I found (MaddenTufanoLaw.com) through facebook groups for AMC, I highly recommend using every possible resource you can get your hands on these days and social media can help with this. THIS IS IMPORTANT, if they treat you like a number, dump them and find an attorney that treats you like a person. 

Third, know your condition inside and out, study it, research it, know it better then any Dr will and let’s be honest, if you have any form of AMC then you already do. But dig in deep and find your specific version or at very least, connect with ALL of the people who have seen you. Get in contact with them, ask them questions, ask them for help, explain your situation. It will give you a better understanding that yes, you in fact, do need to apply for this now, rather then later. Something I severely struggled with in the beginning.

Finally, once you get to the point of sitting down with the person doing the filing, don’t get snippy, be respectful (the person filing has heard it all, seen it all, and is only there to fully understand your reasoning for filing), stay calm, YES & NO become your answers, have ALL your paperwork in line (financials, medical, bills, places of previous employment, etc), and (THIS IS IMPORTANT) ask questions, close your mouth and listen. 

ssa.gov

~ Ted