rasorjessica

@rasorjessica
Community Voices

Collagen XII Bethlem myopathy 2 Congenital Muscular Dystrophy

Bethlem-Like Myopathy/BM2 or Collagen XII disorder, CMD?

At first I thought "well, this sure does explain the muscle weakness, but I wonder why it's considered a congenital muscular dystrophy. Wouldn't I have had symptoms growing up or be worse off than I am now? I think I'm fine. I can beat this and just keep strengthening while I can and maintain as long as possible!!"

I saw the Neuromuscular specialist last week and he was so kind and took as much time as was needed to explain the diagnosis of how the "bent collagen protein strand" causes muscle to die because the protein cannot break down and rebuild properly.

In all seriousness, this new disease is like so many of my other rare diseases: minimal -no information regarding the disease and they are all on a spectrum.

I'm thankful mine is mild at the moment and hope it stays that way!

There is so much to learn about this diagnosis and my others that I know little about.

Thankful it's not an "unknown". I lived with the "unknown" for many years (7-10+) treating multiple diagnoses improperly.

The non-surgical dumping syndrome, was treated as a diabetic or regular reactive hypoglycemia and made me worse until proper diagnosis. The ME/CFIDS was unknown and we exercised until I couldn't move, talk, or stand up. As was this diagnosis that could have been made worse during that time not knowing we were doing more damage.

I know with a congenital muscular dystrophy/COL12A1/Bethlem myopathy 2, ME (Myalgic Encephalomyelitis), dysautonomia, TBI, ADHD, Dysautonomia non-surgical dumping syndrome/rapid gastric emptying (look it up-all you'll find is surgical dumping syndrome or GP), Bilateral Vestibular Loss, Migraine (+vestibular migraine), Pineal Cyst, and many more, I should feel really crummy, but I don't.

I learned how to smile and remain positive from my friend with BRCA 4 (she passed Dec 2020) & that YOU have control over your chronic illness/disease and how you react to it/everyone else in a positive manner.

I have learned from many years of these rare diseases that no one (other than those who have it) will ever understand you and to not expect others to understand what you are thinking, feeling or going through.

I feel very blessed that my symptoms are mild, manageable now (For all diagnoses!) and I can move forward despite any obstacles God throws my way!

I can only do the best I can with what I have to work with.

I have worked very hard to find a self-care routine that works for me-specific exercise, diet, meditation, ST/OT/PT/VT despite many diagnoses having opposite treatments (BVL-stimulate and stay active as possible; ME/migraine/CMD-monitor energy levels, avoid overstimulation, and PACE self!

My SLP (Speech therapist) and I have a saying:

STOP! BREATHE!!

So I encourage you to be mindful, grateful, compassionate to yourself, and find out how can you turn your diagnosis(es) positive each day!

#bethlemmyopathy2 #TBI

#MyalgicEncephalomyelitis #cmd #bvh #Dysautonomia

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Community Voices
Community Voices

Spinal syrinx pain out the blue

So anyone else with this and Eds and pots ever get a throbbing sharp stabby pain were the syrinx is?

I don’t typically and that’s got me a bit concerned as I’ve been unable to get my 6 month mri done on it and it’s a pain that if I’m not near something to support myself then it makes my legs go to off mode ( jello legs)

Thanks and any feed back be great

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Community Voices

Myopathic Eds?

I have an unknown genetic variant on genes COL9A1 (autosomal dominant multiple epiphyseal dysplasia and recessive stickler syndrome) and COL12A1 (affecting myopathic eds, Bethlehem myopathy, and Ullrich congenital muscular dystrophy) i understand if it sounds like interpreting my genetic test results but i wanna lay the other possibilities out, as i’m very confused and want guidance.
i read online it’s the rarest form of EDS discovered and named around 2016 and only 11 people known to have myopathic form. i have several hypermobile markers but surprisingly no facial, retinal, or hearing abnormalities and wonder if that means that it is eds and not the other congenital conditions.
Online it states myopathic eds improves with time, is that with an onset of symptoms at birth, childhood, or adulthood? i struggle with a wide range of connective tissue disorder related symptoms but mostly POTS extreme fatigue weakness and spinal instability, chronic degenerative disc as well. im only 19 and this started at 11 but the last 12 months let alone 4, have me terrified scared and worried every second of the day with the strange symptoms and feeling extremely alone in this battle with numerous specialists saying im fine or it’s psychosomatic.
Does anyone have any ideas or insight about what apparently is super rare form but i have questions about my own strange experiences.
Looking into getting seen at www.ehlers-danlos.com/eds-center-for-research-clinical-care
(baltimore, MD)