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.