Hello all! I hope this post finds you well. This is my first post here and I have a lot going on, so buckle up!

I am 26F, 5'2" but once a nurse told me I was "technically" closer to 5'3" weigh 195 pounds (working on it, down 55 pounds currently) and these are my current illnesses/ailments:

1. Type 1 Diabetes (diagnosed age 8)
2. PCOS
3. Migraine with aura
4. Hepatic Adenomatosis
5. Rumination Syndrome
6. Systemic Lupus Erythematosus
7. Sleep Apnea
8. Sjogrens Syndrome
9. Misophonia
10. (What I believed was RLS & RAS that may be something else)

I do not consume alcohol, I do not use drugs, here are my current medications:

1. Humalog, sliding scale
2. Tresiba, 40 units every 24 hours
3. Hydroxychloroquine, 200mg per day
4. Losartan, 25mg per day
5. Cyclobenzaprine, 10mg up to twice a day
6. Meloxicam/Naproxen (some anti-inflammatory)
7. NORCO 5mg/325 up to twice a day (only as needed)
8. Vitamin D 50,000 IBU once a week
9. Musical chairs of nausea meds (meclizine, promethazine, onadestron, etc)
10. Gabapentin, 300mg three times a day

Context:

I began seeing a new primary care doctor as of September of 2021. Since then, I have been diagnosed with SLE, thus constituting seeing many a specialist for major organs and functions, etc. I land with neurology for what I believe is RLS(Restless Leg Syndrome) and/or RAS(Restless Arm Syndrome). The way I would describe the feeling would be that I MUST contract the muscles in my legs and feet very tightly, then release them. This happened every 30 seconds to every few minutes or hours on end and can he extremely painful and debilitating. My arms, I would have to shake my arms and hands with limp noodle wrists to try and give myself relief of the feeling.

Since starting Gabapentin, I don't experience RLS/RAS symptoms like I used to. However, anytime I get a fever, I get INTENSE RLS during the entire fever. If I have a fever for longer than a day, I become immobile because of how painful my legs and feet become.

My neurologist said he thinks its not RLS but neuropathy or "something else". He schedules me for an EMG test. During the test, the nerve results were looking good, everything was looking fine until he got to the muscle section. The nurse had her arm around my shoulders and was holding my hand because this part was particularly painful for me.

The doctors demeanor changed, and the sounds I had heard my muscles make sounded... weird. My neurologist mimicked the sound with his voice, and said "Its not supposed to sound like that. I hate to add to your plate as it is already so very full, but I think we should run some genetic testing. It can take about a month to get the results, so I'll see you around then."

The sound the test was making this sound the whole time (when things were "normal" per the doc) like it was feedback from a microphone but way less intense. When my muscles were flexed, it was sort of a low "wuompwuomp" sound?

The genetic testing that was done is titled "Comprehensive Neuromuscular Disorders Panel"

These are the genes it tests for:

ABHD5, ACAD9, ACADM, ACADVL, ACTA1, ADSSL1, AGK, AGL, AGRN, AHCY, ALDOA, ALG14, ALG2, AMACR, AMPD1, ANO5, ATP2A1, ATP7B, B3GALNT2, B4GAT1, BAG3, BIN1, C1QBP, CACNA1S, CAPN3, CASQ1, CAV3, CCDC78, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CLCN1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COQ4, COQ7, COQ8A, COQ9, COX15, COX20, COX6B1, CPT1A, CPT2, CRYAB, CTDP1, DAG1, DDC, DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FBXL4, FDX2, FHL1, FKBP14, FKRP, FKTN, FLAD1, FLNC, GAA, GATM, GBE1, GFER, GFPT1, GMPPB, GNE, GOSR2, GYG1, GYS1, HACD1, HADH, HADHA, HADHB, HMBS, HNRNPA2B1, HNRNPDL, ISCU, ISPD, ITGA7, KBTBD13, KCNJ2, KLHL40, KLHL41, LAMA2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, MAN2B1, MAP3K20, MATR3, MEGF10, MGME1, MICU1, MPV17, MTM1, MUSK, MYH2, MYH3, MYH7, MYL2, MYO18B, MYOT, MYPN, NEB, OPA1, OPA3, ORAI1, PDSS1, PDSS2, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PLEC, PNPLA2, PNPLA8, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PUS1, PYGM, PYROXD1, RAPSN, RBCK1, RNASEH1, RRM2B, RXYLT1, RYR1, SCN4A, SDHA, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC16A1, SLC18A3, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC25A42, SLC5A7, SMCHD1, SMN1, SMN2, SMPX, SPEG, SQSTM1, STAC3, STIM1, SUCLA2, SUCLG1, SYT2, TANGO2, TAZ, TCAP, TIA1, TK2, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRMT5, TSFM, TTN, TWNK, TYMP, VAMP1, VCP, VMA21, YARS2

Three last things to consider, and they may be the most important;

1. I have uncontrollable muscle "movements" or "spasms" (I use quotes because I'm not sure the proper term) Sometimes I can lie still and notice all over my body from my face, to my neck, to my chest, arms, fingers, hands, legs, feet, back, anywhere I can count anywhere from 5-15 small to large involuntary movements. (One doctor once asked me if I had a tic recently, I've never been asked that before)

2. I get uncontrollable tremors so badly that my teeth chatter and my whole body shakes like I'm having a severe hypoglycemic episode, but I've had this happen at a blood sugar of 300 before (coincidentally) so it's not that. Sometimes I think it may be CPTSD due to all the medical and regular trauma I've experienced, but felt it was noteworthy for this post.

3. Back in junior high and high school I played football for my school, on the boys team. I did everything they did, so that meant hitting the weights as well. Anytime I did weightlifting, from age 12 and until now, post workout my muscles lock up and my hands turn inward and I cannot stop them from doing so.

I know I should wait for my neurologist to release the results from the genetic testing but I didn't have time to update my doctor with all of this information.

I also know that I have a lot going on, so if this is too much to try and sus out, I understand.

If you've read this entire novel, thank you.