For this blog I want to go over my timeline of symptoms and when everything started!, I want to note I was born with my variants as its congenital. But I want to go from the very beginning to see if my story helps others or even I can get some insight that people have experienced the same.
My Mothers experience with pregnancy
Her Pregnancy was pretty normal but there were weird things that she thought was odd but all the doctors stated it was normal
The main issue was she never felt me, i hardly ever kicked or even moved really during the entire pregnancy.
She told the doctors but they dismissed it as normal even though her position of her placenta was normal so really there was no reason for her not to be feeling me.
But as we know now its because i was weak even in the womb that I couldn’t really kick hard enough to were she could feel and movement was slow as i didn’t have the strength .
AFTER BIRTH
When I was born my hip had a clicking noise in it when they did the exam on me, my mother proceeded to tell me that they really yanked me out.
The doctor told her I’d grow out of it and that it was fine, i also was pretty tiny at 6 pounds.
ALL THE SYMPTOMS GROWING UP
From the very beginning i was considered a “floppy baby” my mother didn’t know the term but she would bring up the fact i was very floppy and was very weak seeming, once again she brought it to the doctors and they stated im fine.
When now we know i wasn’t and it was hypotonia which is basically low muscle tone or lack of muscle so weak.
From Birth to Age 1
Throughout the months until 1 years old I was floppy and I didn’t start eating until pretty late into age around 1. I didn’t crawl at all and I could barely sit up on my own all the way up to about 2 years old. My mother had to put a pillow behind me.
Note none of this was ever a concern to the doctors!
2 years to where i can remember which is about maybe 5
I didn’t start walking until 2 and half and didn’t potty train until 3 years of age,
This is the point i have memory of everything.
School
Preschool :When I went to preschool I remember not being like the others in the fact I was lacking behind them when walking in the hall or when doing fun activities, but other than that I was okay and nothing seemed to be necessarily wrong.
But I just remember being different idk how to explain it other then knowing i wasn’t the same as the others! But I had no problem making friends and my Teacher was the best one I ever had during school.
2ND TO 3RD When I got to about 2nd to 3rd Grade the classes were upstairs and I remember vividly that I would crawl up the stairs and it would take me a long time to get into class but thankfully my teachers realized and it wasn’t a problem. And even they knew something was up way before doctors decided to
acknowledge it. And it was getting harder and harder as time passed with the staircase.
The Bus
This was around when I started taking the bus to school and immediately when the bus would come I would crawl up the stairs on my hands and my mother knew that there really isn’t something right. It would take me a good couple minutes to get into the bus. My mom had to push me from behind to get me up and going on the steps, but it was easy to go down the steps. I would go down like normal so it was odd and confusing to everyone.
Because of this I stopped using the bus and my father would pick me up most of the time, but his cars were usually an issue for me as they were high for me when it came to getting in so ive always had an issue with heights.
Thankfully my bus drivers were lovely and completely understood and allowed me to take my time but I dreaded it everytime as it was embarrassing.
None of my friends ever saw me differently which is amazing!
PLAY TIME AT SCHOOL
Whenever it was time to go outside and play at the playground, that was my favorite time! But I clearly was never able to do the stuff others were doing or if i did i found it more difficult to do so. So no matter what I was always behind in class! But not in Height LOL.
SPORTS
While in school I did 2 sports: Cheerleading and Softball. When it came to Cheerleading I was better at flexibility then others but when it came to jumping into high points or running I was severely behind. Which was frustrating as i knew i was different but everyone treated me like i wasn’t which im grateful but it was confusing to me as a kid.
For Softball I was slower at running to base then others but it was mainly hitting the ball with the bat so it wasn’t as difficult as Cheerleading.
So i had to stop Cheerleading after awhile as it was getting more difficult.
THE END OF PUBLIC SCHOOL
At the end of 3rd Grade it was decided that I be homeschooled as the school in our area had stairs and all the classes were upstairs for middle schoolers. And i had alot of doctors to see and I was missing a lot of school.
And Homeschooling was okay but back then finding friends that are in the same thing was difficult but ive heard now it isn’t, but due to me being homeschooled the program i was in didn’t allow me to get a Diploma and GED so that has been an issue and now trying to achieve that is hard as the closed classes building and testing is and hour away each time each week.
So trying to find a job that I can do and also have my husband be with me and it being allowed plus not having a GED is very difficult and trying to find a remote job that will take me is almost impossible.
SURGERIES
TEAR DUCT: When i was about one i had a clogged tear duct which needed surgery to drain it and repair it ever since then when i blow my nose i feel air coming from it , its very odd lol.
Now we know this is actually common with Myopathies to has tear duct issues as the muscle isn’t strong enough.
TONSILS AND ADENOIDS :
I had to have them removed as my Tonsils were so enlarged it was causing breathing problems. They were basically touching. I believe they were grade 4, in which tonsils are graded from 1 to 4. (Which the doctor was the first one to actually mention maybe Muscular Dystropy as apparently having huge tonsils is a major sign of it.
EAR TUBES:
The same ENT told us my ear wasn’t draining fluid so it was backing up and causing my hearing to be muffled, when I was younger I used to talk very loud even though I thought I wasn’t.
So they placed a temporary draining tube, which after they were taken out it didn’t help. So they placed a second one . and once again it didnt work i cant even count how many hearing tests ive gone through.
So the 3rd time was a charm right so they did it again! Welp it didnt work.
So the final time they placed a 10 year inner ear drum tube. And that seems to work but i still have one in and well its been well over 10 years lol. The one fell out but it took my ear drum with it ….. So i dont have an ear drum in my right ear. They told me it could possibly come back and heal but it hasn’t and I just have a lot of scar tissue in both ears.
And with Myopathies it causes the muscles to be weak so the mechanism that allows ur ear to drain fluid basically isn’t working.
MUSCLE BIOPSY :
My Experience with it wasn’t that great as this was the first time I experienced a MHS episode
I didn’t know I had MHS beforehand so I had no idea what it even meant.
When i had the surgery the anesthesiologist walked out and told my parents that i was gonna be a tricky one , he stated that he didnt like how i was reacting to the Anesthetic with my vitals and that he switched the medication, and that i was doing better but he said he was gonna keep a close eye on me. Honestly without him being such a good doctor something really could have been bad.
After surgery I had a hard time waking up, and my vitals were dropping so a nurse had to come in and forcefully wake me up. Before with my other surgeries I also took awhile to wake up but this was the worst one.
These are My results: and the conclusive findings
FINAL DIAGNOSIS:
SKELETAL MUSCLE, LEFT QUADRICEPS, BIOPSY:CONSISTENT WITH MYOPATHIC CHANGES, see note.
NOTE: There is no endomysial lymphocytic inflammation, vasculitis or granulomas.
MICROSCOPIC DESCRIPTION:
H and E (paraffin and frozen sections) stain:
Marked variation of muscle fiber size, with hypertrophic fibers, atrophic fibers, and fiber rounding.
No muscle degeneration.
Rare muscle regeneration.
No increase of intramuscular fibroadipose tissue.
No significant increase of internal nuclei.
Trichrome: No ragged red fibers, nemaline rods, or rimmed vacuoles.
NADH-TR: Rare target fibers.Oil Red O:
Mild increased stain intensity.
PAS: Unremarkable.
Acid phosphatase: Unremarkable.
Alkaline phosphatase: Unremarkable.
ATPase at pH 9.4, 4.6, and 4.2: Type 1 fiber predominant.
COX: Pending
SDH: Pending
Desmin: Pending
Dystrophin: Pending
jxq /jxq fxy
Falling
I used to fall ALL the time i mean maybe over 100 times in my life it was bad, it was always excused as my ankles being the problem but it wasn’t my knees would just give out under mean with no reasoning , even if i did the smallest movement that was off or even if the floor was a tad wet id fall
I used to fall so much I would land away. I knew it was safe because falling so much I knew how to but with that being said i would land either on my hands, Butt, or my knees.
And because of that i developed these big bumps under my knees and i still have them but they are very sensitive to pressure so when i would fall again and needed to get up i would go on my knees but now the bumps there it was so painful that i just couldn’t so now getting up was more difficult then it already was.
My security was my father because he was a very strong man and every time i would fall he would just put one arm under mine and lift me completely up.
But he has since passed in 2024 and before that happened i was moved away from him in a different state due to finding health care to help diagnose , but when we went covid started and we couldn’t leave so we were stuck and what we thought was that Maryland was the best state for MD as they have the children’s national hospital. But honestly i wasn’t treated the bed by my neuromuscular she would just dismiss and never actually clarify my diagnosis she would just say “RYR1” but when i went to other doctors and i said that they looked at me like i was a fly hitting a window, The other doctors amazing
I was told the bumps under my knees were basically bumps filled with dead cells that were inflamed. My body basically made a protective barrier for my bone to protect it but because of that it’s a constantly inflamed area and that’s why it’s so painful when I put my body weight on it .
I believe the Bumps are called
Adventitious Bursa Chronic
chronic, fibrotic bursa or calcified fat necrosis.
If a bursa is only irritated once, the body eventually drains the fluid and absorbs it back into the bloodstream. However, because the trauma was repeated over years, the fluid and dead cells never had a chance to drain. My body went into chronic defense mode.
Fibrosis (Scar Tissue): To trap the inflammation and dead cells, My body built thick, dense layers of collagen scar tissue around the sac. This is called encapsulation.
Calcification: Over time, the trapped dead fat cells and stagnant fluid inside the sac began to harden, often accumulating microscopic calcium deposits.
What started as a squishy protective water balloon has completely transformed into a thick, rubbery, hardened mass of scar tissue and dead cells tightly glued to the structures under My skin.
The Pain Mechanism: The “Pebble in the Shoe”
This explains exactly why you experience severe pain when pushing up off my knees.
Normally, the tissue over my kneecap is pliable and shifts smoothly. Now, my have a solid, fixed mass wedged between my skin and my hard knee bone (the patella or tibia). When i put weight on my knee to stand up, that solid mass cannot flatten or move out of the way. It gets driven straight down, compressing and crushing the sensitive nerve endings right against the bone
Why Surgery is the Solution
The body has walled this area off so heavily with scar tissue that my bloodstream can no longer get inside the mass to dissolve or absorb it. It is a permanent, structural obstacle. A surgeon must physically cut the connective tissue holding the sac in place and remove the entire solid mass in one piece, completely eliminating the source of the pressure and pain.
But getting surgery after a MHS attack in my last one is terrifying even though I know there are protocols but there’s always what ifs, like what if they forget or put in the wrong medication or what if they simply don’t care. Sadly this is what’s on my mind what its survival mechanism .
AN EXAMPLE
When it got worse
So after cheerleading is when it went down hill and all the falling didn’t help at all it just killed more and more muscle every time. And i would notice after every fall id get weaker
I now found out after any fall i need PT to make sure the muscle doesn’t die, i didn’t know this.
And i beat myself up all time before diagnosis and even after i always blamed myself as to why i am the way i am, “come on like just get up and be normal , maybe if u didn’t just baby yourself you would be normal” and i still do this
As much as i try not to, there are days where i feel like shit physically and i just get into my head about it, i want to be honest because i feel like people don’t speak about the personal doubting or hating because of this disease and its very much there. I feel like people see us and are just like “we are so strong” and just see us that way automatically but there is always mentally doubting and hating going on. It’s not that smooth or simple.
So I got so much worse. But recently more than before. In 2023 i fell 2 times were i haven’t fallen in YEARS because of the constant making sure i knew where my feet where how i stepped etc. and trust me i still do, but i just did i fell and it took me over an hour to get up i was on my knees the entire time and so weak i was using everything, even with help.
And then only a couple months after i fell again in a bathtub in a hotel, because they didn’t give us the disabled room like we paid for. But thankfully my husband was there and I didn’t really use any muscle! But i think just falling 2 times in a couple months and the first one being very bad it just made everything worse.
Before i was actually taking walks and going to the kitchen and making food but now i just very weak,
But now with my husband I have that security again like I did with my father! So please don’t think u will ever be alone in this, i know its hard not to.
Since I moved back to NY I haven’t seen a neuromuscular because they are an hour away and whenever it’s the night of having to go I just feel horrible like weak fatigue and bad headache . and then i cant go, because my headaches are very bad to the point they bruise my head after. And honestly probably because I overwhelm myself by going out because anytime I go out I have bad anxiety due to the “what ifs” with the car we have .
But thankfully me and my husband just bought a wonderful car that I can easily get in and out of so now going places isn’t as nerve racking!
I want to thank you all for ready my story and listening
The end
I wanted to go through my own struggles dealing with this disease and hopefully it helps! Next blog I want to go over all my experiences with doctors…… so lovely lol.
Ps.. they arent good
