Where it all began.
Hello to whoever is reading this! my name is Mary.
I want to dedicate this website to all the stuff I’ve learned about RYR1 related condition’s and forms of autoimmune conditions that i have as well .from my own personal symptoms to genetic reports and what they mean to all the risks involved, my results and symptoms will not be same as everyone but I’m hoping that with what i write down it can help people learn about there own bodies! as there are so many things on google that have this list of all these issues you must have to be a certain category of symptoms.
which i have fallen down that road myself and its very discouraging to say the least, as i have different feelings and physical aspects that are different from what doctors and google is telling me.
I am 22 years old now but I’ve had issues since birth that I’ve now realized based of my mothers viewing. i got “diagnosed” at 14 years old but even to this day i still am missing so many questions that are unanswered, that i still am waiting to find doctors who will not just sugar coat things but tell me the truth.
for the first couple of posts i want to go down from the very start to now so that you can related in some type of way or even realize something you may have experienced and may now find an answer, please don’t hesitate to email me or even comment under any post you read with questions (please note I’m not a doctor and can not give u 100% answers to your questions) but i can give you answers based on my own experience.
I’m also going to go over and add all the diagrams of how each protein works etc, from things you should look out for and things maybe you write down.
there will also be links to supporting websites for reach topic i write about and foundations you can look at for patient support, so let’s get to the very start!
The Start
The very first information i have based of my mothers pregnancy is that she hardly ever felt me kick which the doctors didn’t really have any concern and chopped it up to that i just don’t want to be very “active” so my mother just went with it as she didn’t have anything to go off of.
When i was born i had a clicking in my left hip which was due to the doctor yanking me out to hard, but they didn’t try to fix it or even give me imaging and said it would fix it on it’s own (which it didn’t), i have a leg length discrepancy and a lot of issues regarding that hip,
from what i know now the lack of kicking was due to the lack of muscle strength (myopathy)
the hip was most likely from instability from the muscles around the hip joint plus the doctor pulling didn’t help.
The symptoms that i had from birth to 2 years old are the following
- Needing assistance sitting up with pillows even up to the age of 1 years old
- My mother said that up until 1 year i had a very hard time sitting up on my own she would always need to put pillows to prop me up, which she didn’t think do much of it again she had no need to worry. but she didn’t bring it up to the doctors and they chopped it up to be normal. which now i knows its from lack of core strength, which ill go into more details of every aspect in other related posts
- My mother said that up until 1 year i had a very hard time sitting up on my own she would always need to put pillows to prop me up, which she didn’t think do much of it again she had no need to worry. but she didn’t bring it up to the doctors and they chopped it up to be normal. which now i knows its from lack of core strength, which ill go into more details of every aspect in other related posts
- Never crawled because i couldn’t
- She also told me that i never crawled or tried to, which can be normal for some babies like others will crawl and then walk and the some will only walk and skip crawling. But the reason for me what i didn’t have strength in my legs and hips to even try to (myopathy)
- She also told me that i never crawled or tried to, which can be normal for some babies like others will crawl and then walk and the some will only walk and skip crawling. But the reason for me what i didn’t have strength in my legs and hips to even try to (myopathy)
- Eating was difficult
- I had difficulty eating/swallowing which is due to muscle weakness so it took me awhile to eat solids (this issue is a lot better)
- I had difficulty eating/swallowing which is due to muscle weakness so it took me awhile to eat solids (this issue is a lot better)
- Didn’t walk until age 2 and a half
- My mother said i didn’t start walking until 2 and didn’t comprehend walking until 2 and a half, which is from LMGD , again doctors just said it was normal and never looked into it.
Issues i had up until age 10 the following-
- Tonsil and adenoids issues
- My tonsils and adenoids were supper enlarged to the point it was causing breathing issues. so i got them out very young, the doctor that did it was the first person to mention a type of Muscular Dystrophy. apparently enlarged tonsils and adenoids are a sign of MD
- My tonsils and adenoids were supper enlarged to the point it was causing breathing issues. so i got them out very young, the doctor that did it was the first person to mention a type of Muscular Dystrophy. apparently enlarged tonsils and adenoids are a sign of MD
- Ear problems
- I had a lot of fluid build up behind my ear drum so they placed a set of temp ear tubes to try to drain the fluid , and they did this 3 time so 3 different surgeries , it wasn’t working so they put in a 10 year long ear tube which i would say it worked but still a lot of things were off like i would need the volume of a tv very loud or id talk loud and not know it. in 2023 the right tube finally fell out , after over 10 years, so i went to the ENT doctor to find out the ear tube took my ear drum with it 🙂 so now i don’t have a ear drum in my right ear for life! and certain conditions of RYR1 can cause issues with how the ear drains fluid.
- I had a lot of fluid build up behind my ear drum so they placed a set of temp ear tubes to try to drain the fluid , and they did this 3 time so 3 different surgeries , it wasn’t working so they put in a 10 year long ear tube which i would say it worked but still a lot of things were off like i would need the volume of a tv very loud or id talk loud and not know it. in 2023 the right tube finally fell out , after over 10 years, so i went to the ENT doctor to find out the ear tube took my ear drum with it 🙂 so now i don’t have a ear drum in my right ear for life! and certain conditions of RYR1 can cause issues with how the ear drains fluid.
- Sports issues
- growing up i did soft ball and cheerleading for my school football team. i used to be very flexible in certain areas and would be better then other teammates but that was about it when it came to doing any jumping , running, etc. i lacked and failed most of the time but i thought it was normal as that’s how i always was so i never thought i was different until i seen i couldn’t keep up, so i had to drop out of those sports.
- growing up i did soft ball and cheerleading for my school football team. i used to be very flexible in certain areas and would be better then other teammates but that was about it when it came to doing any jumping , running, etc. i lacked and failed most of the time but i thought it was normal as that’s how i always was so i never thought i was different until i seen i couldn’t keep up, so i had to drop out of those sports.
- Noticing weakness
- around the same time as the sports area, is when we really noticed i was behind because every time i would need to get on the bus i would climb up the stairs by knees and hands i did that from 1st grade and up, my parents would bring me to doctors over and over and they wouldn’t give any reason as to what was wrong or dismissed me or them.
- around the same time as the sports area, is when we really noticed i was behind because every time i would need to get on the bus i would climb up the stairs by knees and hands i did that from 1st grade and up, my parents would bring me to doctors over and over and they wouldn’t give any reason as to what was wrong or dismissed me or them.
- being homeschooled
- i got homeschooled as soon as the year 3rd grade was over because the stair case you need to go up to reach the middle school area i couldn’t do anymore so i was homeschooled from then until i graduated at 18, but because i was homeschooled i never got my GED or diploma so now i need to sign up for the test to do so.
- i got homeschooled as soon as the year 3rd grade was over because the stair case you need to go up to reach the middle school area i couldn’t do anymore so i was homeschooled from then until i graduated at 18, but because i was homeschooled i never got my GED or diploma so now i need to sign up for the test to do so.
issues i had up until 18 are the following
- Little league
- I could run at this time but the couch gave me extra time to reach my base, i could hold a bat
well.
- I could run at this time but the couch gave me extra time to reach my base, i could hold a bat
- Couldn’t kick well
- during cheerleading i could kick high but one leg wouldn’t go up as high.
- during cheerleading i could kick high but one leg wouldn’t go up as high.
- Riding bike
- I couldn’t ride a bike without training wheels.
- I couldn’t ride a bike without training wheels.
- PT/OT
- I was in PT/OT , i didnt know at this time i had MD so i did normal PT which ultimately made my muscle break down worse and made me weaker due to the fact of over doing it without knowing
- I was in PT/OT , i didnt know at this time i had MD so i did normal PT which ultimately made my muscle break down worse and made me weaker due to the fact of over doing it without knowing
- Wheelchair use
- at 16 i got a wheelchair which is the first time i needed to start using one, up until this day i still use either a manual or electric wheelchair depending on how long of a distance i would be going
- at 16 i got a wheelchair which is the first time i needed to start using one, up until this day i still use either a manual or electric wheelchair depending on how long of a distance i would be going
- Aqua therapy/swimming
- I did Aqua therapy for a bit which was one of the best things I’ve done for myself , swimming has and always will be my favorite thing but finding a pool that will have a ramp and accessible changing rooms is near to none. so i stopped it but aqua therapy is the only thing i can do without over doing it but also using my body. so i want to invest in a pool, if you are having a hard time in PT i highly suggest Aqua therapy
- I did Aqua therapy for a bit which was one of the best things I’ve done for myself , swimming has and always will be my favorite thing but finding a pool that will have a ramp and accessible changing rooms is near to none. so i stopped it but aqua therapy is the only thing i can do without over doing it but also using my body. so i want to invest in a pool, if you are having a hard time in PT i highly suggest Aqua therapy
- Leg weakness
- Kicking a ball was harder and didn’t do that activity anymore but still went on walks
- Kicking a ball was harder and didn’t do that activity anymore but still went on walks
- 12 years old
- walking became hard and needed to be carried or assisted everywhere
- walking became hard and needed to be carried or assisted everywhere
- Genetic testing
- At 14 i got a genetic testing done which my insurance would only cover a certain about of genes or proteins to test so it really gave me a generic diagnoses which i still have not been explained to properly or told what my actually diagnoses is i had to go on the rarediseases.org and look the affected proteins up myself to see what conditions come with it and what it all means. the people who even did the testing put on my report :needs more testing: and still they wont give it to me so I’m seeing another neurologist to see if they will
- Falling
- I have fallen so much in my life i cant even count or remember how much, I’ve twisted both my ankles 4 times and have had so many injuries from these falls. my legs give out and i always land on my buttock or my legs or knees which has caused a painful tail bone etc. which hasn’t healed properly. And now i know every time i fall or have any major trauma to my muscles in anyway even if i feel fine can cause damage.
Year of doctors and genetic report
Age 14 is when i got the genetic testing done , i went to the MDA clinic in Maryland at children’s hospital i was seen by every doctor in almost every field in 1 day it took hours i also had test done and OT come look at me etc.
They had me get a lung test done which then is when i found out that the muscle that helps make you cough or breathe out is weekend which then causes issues for when I’m sick i need a cough machine to help or i can become very ill, i was given the pneumococcal vaccine for people under 60 but need to have a doctor authorize it (which they did) to prevent any infections since I’m more prone due to i cant cough anything up properly.
OT had me walk up and down the hallway to study how i walk which i have a wide gait like a penguin and my balance is off. she then noticed my feet don’t pick up off the floor easily and i don’t have that big of a arch, she also watched how i sit up, i have to push up with my arms no matter where i am sitting or else my core will give out or my legs its very hard for me to sit up without doing so. I cant get up from the floor meaning if i fall its a very bad thing as if no one is around I’m screwed, i used to be able to get up by myself with struggle but not anymore for many years now, because I’ve fallen so many times in my life my legs have caused this condition where under my knee has filled up with fluid and inflammation and basically dead muscle / fat to protect my bone when i fall and its very sensitive so if i push my body weight on it , it hurts so bad that i just cant do it, the medical term is called-Chronic Infrapatellar Bursitis in another blog i will go more in detail of everything medical wise.
They also did a echo to see if my heart is okay which it is. but i have also been to cardiologist because i have a very high heart rate when i stand up which is a sign for POTS so i am being tested for this
The neurologist is who ordered the genetic testing. it took a couple months for it to come back which i was so excited but just to get such little answers still and be back handed which manipulation from the doctors. i am going to tell you all of the proteins i have that are affected but its a lot to cover and explain medically term wise so i will do that in a different blog so i can upload the dig pharms and etc.
- Main mutation
- Pathogenic Variant: The “Disrupted Protein” (From mother)
Variant:{c.12567del} (p.Ile4189Metfs*21)
- Pathogenic Variant: The “Disrupted Protein” (From mother)
- 3 variants of uncertainty
- Three Variants of Uncertain Significance (VUS) (From father)
The VUS Triplet:{p.Ile1571Val},{p.Arg3366His}, and{p.Tyr3933Cys}
- Three Variants of Uncertain Significance (VUS) (From father)
- Other unknown affect
- {PLEC} Variant of Uncertain Significance
Variant:{c.6271\_6282del} (p.Glu2091_Gln2094del)
- {PLEC} Variant of Uncertain Significance
- So all together its autosomal recessive condition’s
It didn’t go into detail and so didn’t the doctor’s. all i seen in the report was i needed more testing. both my parents got tested which is why i know what variants came from who and why its autosomal recessive.
Muscle Biopsy
I don’t quiet remember how old i was but i know it was 2018 they wanted me to get one done to test again at this point i didn’t have the genetic report this was years before. they found findings in the biopsy but again was told “it didn’t tell us much” which is very false mind you this is a MDA doctor looking at my medical history and documents telling me this i will list the findings in this blog here but again will explain everything in more detail later.
- The Final Diagnosis: Myopathic Changes
- Type 1 Fiber Predominant
- Fiber Size Variation
- Normal Dystrophin
- Normal COX & SDH
- Â “Rare Target Fibers”
- “Mild Increased Stain Intensity”
- Â “Rare Muscle Regeneration”
This was in the report from the surgeon which also told me a concern he seen was my muscle had fat in it. again was never followed up with and never told these findings and what they mean relating to my genetic report etc. just that there isn’t much findings there. even when a easy google search tells you.
i also seen a doctor that is a specialist in they RYR1 field and looked at my genetic report and told me to my face ” how they did this was stupid” and then told me “i do not have malignant hyperthermia and he wouldn’t take precautions if he had to do surgery on me” the one thing everyone told me was to always tell doctors i have MH and to insure they use the right drugs. because in my genetic it states the chances of me having MH is so high. and during my Muscle Biopsy i have complications in witch the doctor saved my life by seeing and noticing my vitals were dropping and changed the drug and even still i was acting off. it took me hours to wake up to the point they nurses had to keep checking me and force me to wake up because my pulse was dropping. now i know this is from MH, and he told me in my face he would do surgery on me and no use precautions.
he even admitted that a girl passed away on his table to do that save factor,
Please if you have RYR1 related issues to always check Ur report for MH or any variants that cause said condition.
MRI
I have also had multiple MRI done and both point to and prove MD here are results
- MR LEFT FEMUR (Thigh) and lower leg
- Diffuse Atrophy and Fatty Infiltration
- Characteristic Sparing
- Rectus Femoris
- Adductor Muscles.
- Semitendinosus Muscles
- Abdominal MRI
- Splenomegaly
- Hepatomegaly
- Hiatal Hernia
- Abdominal Wall Musculature
So both MRIS I’ve had on both legs upper and lowers prove MD and still never told me this
the abdomen MRI shows enlargement of liver and spleen which is a sign of 1 muscle involvement and or Autoimmune
My liver enzymes are also high AST ALT but lower here and there but my CK levels are always high which can happen due to the dead muscle enzymes leaking through the liver because its not meant to happen to the liver try’s to expel it and which then leads to false positive AST and ALT. the fact only the AST AND ALT are high and the CK proves this point still waiting for the Neurologist to confirm this
MCTD? PLUS LYME
I’ve been diagnosed with Lyme disease around July this year. i have no clue when i got it and how long but the Bactria i have is from a old infection which indicated chronic. i took a antibiotic to see if it can kill it but i need more blood work to see if it did but i highly doubt it, if that’s the case i need to go on IV antibiotics . the last time i remember being bit by a tick was around 8 years old so i have no idea? im scheduled to see a rheumatologist.
MCTD. i got blood work done years ago and it showed that my body was attacking myself and on the LabCorp blood report they stated MCTD is highly suspected so again still waiting on rheumatologist but it surely points to it as technically that blook work is a diagnostic testing for it and the enlarged liver and spleen also would be caused by this. i have also has such bad fatigue and over all always feel like crap im always drained
MY SYMPTOMS FOR THESE CONDTIONS
- Chronic fatigue 10/10
- Muscle pain 10/10 MD AND THESE
- Weakness 10/10 MD AND THESE
- Drained 10/10
- Feeling sick 7/10
- Fever like feelings with no actual fever 5/10
- Hot then Cold in a matter of a minute
- Dizziness when standing and sitting 7/10
- High heart rate (POTS?) every time i stand 135/150 normal BP
- Sensitive skin 10/10
- Bruising easily 10/10
- Red cheeks and neck when i have the fever feeling 10/10
- hot showers cause me to be dizzy 10/10
- Wears compression socks to help with nervous system 10/10
Blood results for Lyme and MCTD
- Lyme Total Antibody
- Equivocal (A) Positive
- LABCORP LYME IGG WB INTERP
- Positive (A)
- LABCORP IGG P66 AB (Present)
- LABCORP IGG P58 AB (Present)
- LABCORP IGG P41 AB (Present)
- LABCORP IGG P39 AB (Present)
- LABCORP IGG P18 AB (Present)
- ANA w/Reflex
- ANA Direct – Positive Abnormal
- RNP Antibodies
- 1.2 High
- Antinuclear Antibody, SLE, mixed connective
Direct (ANA-D) tissue diseases
dsDNA SLE 40 – 60%
Chromatin Drug induced SLE 90%
SLE 48 – 97%
SSA (Ro) SLE 25 – 35%
Sjogren’s Syndrome 40 – 70%
Neonatal Lupus 100%
SSB (La) SLE 10%
Sjogren’s Syndrome 30%
Sm (anti-Smith) SLE 15 – 30%
RNP Mixed Connective Tissue
Disease 95%
(U1 nRNP, SLE 30 – 50%
anti-ribonucleoprotein) Polymyositis and/or
Dermatomyositis 20%
Scl-70 (antiDNA Scleroderma (diffuse) 20 – 35%
topoisomerase) Crest 13%
Jo-1 Polymyositis and/or
Dermatomyositis 20 – 40%
Centromere B Scleroderma – Crest
variant 80%
Inflammation/blood count
- WBC
- 11.7 (H)
- MCHC
- 31.4 (L)
- Absolute Neutrophils
- 7.94 (H)
- Absolute Immature Granulocytes
- 0.04 (H)
- Sed Rate
- 26 (H)
Other blood results that point to issues like POTS etc.
- Sodium
- 135 (L)
- Carbon Dioxide
- 20 (L)
- Alanine Aminotransferase (ALT)
- 125 (H)
- Aspartate Aminotransferase (AST)
- 142 (H)
Thank you for reading The Beginning
This is were ill stop it for now i will go into much more detail of all my issues and symptoms and why i may have them and also explain in great detail what all the medical terminology means with digraphs etc.
Please feel free to comment and questions and or just tell me how you liked it, i apricated it so much for even clicking on this to begin with i just hope i can give insight for people and make them not feel alone in the medical field and in over all life!
Thank you so much!
here’s to a new chapter
