Answers (buckle in, this is a long one)

How we got here

Hi my name is Shelly, and my health has always been a hot mess.... a little more so here recently but the theory of the hot mess has been roughly 45 years.

Since the fall I have been struggling with standing and walking but found ways to kind of get around that. I could sway and stand and I could walk a certain way but as time just went on the duration of all of those things got shorter and shorter leading to a solo shopping trip on February 21st where I fell 4 times in roughly an hour while holding on to a shopping cart. I recognized this wasn't great but chocked it up to my Ehlers Danlos and my joints not being able to hold the weight of those simple tasks because with Ehlers Danlos, your joints shift and subluxate for fun so it just made sense that subluxating joints were a part of the issue. As the weekend carried on though it just got worse. Justin left for Mexico that Sunday (the day of the Cartel killings... this matters later in the story) and I was gearing myself up for a busy week. We had just come off of a weekend of Riley competing the weekend before and now that next weekend we were planning on going to Memphis to support Cooper in his climbing and to see family. That Monday (February 23rd) I decided that I would drop Riley at dance, drop Cooper at climbing and go to THR Frisco to have labs in hopes that they would tell me I was low on something and send me on my merry way..... I was wrong..... I was so incredibly wrong....

The ER doctor (who I really liked because he didn't "well it's Ehlers Danlos" me) he was genuinely concerned that I am 45 and I am losing my ability to stand and walk and he wasn't super happy with the MRIs they had done so he admitted me. Just a reminder that Justin was in Mexico and getting him back was questionable because we didn't know what the cartel wars were doing to air travel as they had already shut down a few airports. A friend took Cooper home and a neighbor watched over him while Riley stayed with me because she was really worried about me. Not gonna lie, it was a long night with her there but Justin was able to get back to DFW and picked Riley up from THR at 5am.

Day one in the hospital was met with PT and OT and the hospital neurologist as well as the main doctor that I can not thank the world for enough. PT and OT were great. The physical therapist was hilarious and the OT was sweet but both agreed that there appears to be a struggle. Midway through the day, Justin brought the kids up to see me, just as the neurologist came in.

The neurologist gave me the "it's ehlers danlos" and went on his merry way. There is this horrible thing with Ehlers Danlos where medical professionals don't seem to want to look further into EDS patients so the bail out is "well it's EDS".

Have the flu? no you dont, it's EDS, have food poisoning? no you dont, it's EDS, truck drove past and ripped a limb off? nope, that was EDS........ The things that get blamed on EDS are insane. While EDS does cause so many issues there are so many other issues that are obviously not part of EDS. Eitherway, I kind of lost it after the neurologist left. I got really upset because I was tired of being dimissed. Cue the perfect timing of a phone call from the head doctor, Dr. Nuradan. He disagreed with the neurologist and asked me to stay another night at THR and if he couldn't find an answer, then he would find someone who could. He sent PT and OT back in to work with me again and reevaluate to see if there was anything missing. OT just agreed that weakness was an issue but couldn't put a finger on it. PT however said whatever was going on seemed to be neurologic and that her guess was something called Myasthenia Gravis.

Instant research led to, omg please let this be the diagnosis because while quality of life wasn't great, life expectancy was and there are medications and treatmenets to help. She filled in the doctor and the next step from them was to go to UT Southwestern. Either via transfer or if I wanted to be discharged from the hospital, go to Cooper's comp while I was in the wheelchair all weeknd and then go through the ER at UTSW when I got back, I could do that too. I chose the latter.

We went to memphis, healthwise, not a great weekend but the rest of the weekend was fantastic. Cooper did amazing, seeing Family was great and the kids somehow convinced me to do this 4 seater zipline thing at the Memphis zoo. The drive back was long and Monday morning I packed a suitcase and went over to UTSW to go through the ER and figure out what was going on. Long wait but I saw the on staff neurologist there who did a full workup, more MRIs and labs on labs on labs. He wasn't comfortable admitting me because most of the tests he needed would take about a week to come back and he didn't want me just sitting in the hospital for a week when resting at home is so much better. He refered me to the neurology and dysautonomia clinics and sent back results as he got them.

I was so positive the Myasthenia Gravis was the issue and... It sounds weird but I was really upset to see that my Myasthenia Gravis as well as Lambert Eaton were negative because that would have been the next easy answer (Lambert Eaton is in the same family as Myasthenia Gravis.) Within that time I also was able to schedule my appointment for the specialists at UTSW.... on May 12th. I wasn't mad at UTSW for this, there are so many doctors, patients and hours in a day but my fear was that I was getting a little worse every day and I was worried what May 12th looked like for me.

I reached back out to Dr Humeniuk to see if there was anything we could come up with in an effort to get answer and hopefully a solution before May 12th. I ended up having an appointment with Dr. Humeniuk on March 12th that led to him being almost positive that we were looking at ALS. I broke down... the life expectancy for ALS is 2-5 years and I couldn't bare the thought of not being there for my kids. Justin and I have somewhat come to grips that the likelihood that I am dying first is a thing and that if I make it to 100, it would be a miracle so I think I made my peace with Justin losing me and me not being there for him but with ALS we were looking at me possibly dying by the time the kids were 15 and 18..... it's terrifying. I completely broke down and cried harder than I think I have ever cried. The really hard part, we were leaving for Houston and Austin the next day as both kids competed that weekend. I barely kept it together over the weekend, tucking away in corners and in my room to cry. I filled in a few people so I wasn't alone in this and made it through the weekend.

That next week (last week) Dr Humeniuk set up a few more test for me in an effort to have this be anything but ALS. A bladder Ultrasound, an upright MRi and yesterday's test that I hate the most... a full body EMG. For those of you who don't know, an EMG is where they put a needle in you multiple times (in my case, from my neck all the way down to my toes) and send an electrical shock through your muscles and nerves to test for issues relating to loss of muscle or nerve. This is also, usually, the best way to diagnosis ALS when all other issues have been ruled out.

The answer:

As soon as Dr Joe (the neurologist) finished the EMG he said that he was positive it wasn't ALS, obvious cheers and fireworks were going on in my brain... immediately followed by the disappointment of "omg, we will never have answers". Dr Joe reevaluated my physical exam and the EMG and said that despite the labs, he was posistive that I do infact have Myasthenia Gravis. This version of it is called Double Seronegative Myasthenia Gravis, which means that I do have it despite the negative blood test.

So what is the easiest way to explain MG? The basics, B receptors block the body's ability to take in acetylcholine, causing voluntary muscle to fatige and waste away.

I started my first dose of Mestinon today, though I am weaning into it because it can cause pretty bad tummy issues the first week or so. A really funny girl on the MG support group page equated it to a week long colonoscopy prep gone wrong...... TMI? yes... but do I appreciate the brutal honesty and how to wean into it so that doesnt happen? Also yes. By next Friday I should be on my regular dose of 60mg, twice a day, and once I am on the full pill I should see affects take place rather quickly after that, confirming the MG diagnosis.

I also had a follow up with Dr. Humeniuk and we looked at all of my scans and while he also agreed that I have MG he also found that I have a disk in my neck that is further to the left than it should be, likely put there from the Ehlers Danlos, that is pinching on my spinal cord. Why this structural answer matters in this is that when I get to where I am falling and very weak, my left side is weaker and this may be the cause.

OK, So why the ALS scare then?

There are so many symptoms in both ALS and MG that overlap and with the negative lab results for both MG and Lambert Eaten syndrome the next natural thought was ALS. Am I mad at Dr. Humeniuk for suggesting this? No, not at all. It was a very "if the shoe fits: frame of mind and he did his due diligence by having me do more testing which proved that I didnt have ALS and it ended up giving us answers. I mean I am still coming down from that emotional ALS cliff but again, it's all going to take time to process and get through anyway.

So what does life look like now?

Not having an ALS diagnosis is great, but again the symptoms almost mirror eachother. The difference is that with MG, there is treatment.... not a cure but treatment to try and keep symptoms at bay and extned life.

I am in this weird spot right now where I am happy to have answers but am also settling in with the reality what MG looks like. Most people with MG are usually better in the mornings because fatigue is a major player in how your body reacts but that being said... mornings can still suck because the reality of MG is that it is a systemic loss of voluntary muscle.

I will most likely lose my ability to walk and do major things with my arms. I may lose the ability to chew and swallow and I may encounter something called myasthenia crisis where my lungs don't want to work due to muscle fatigue. So the reality of this disease is not exactly sunshine and rainbows.

We are abandoning the idea of the Zeen and moving towards an electric wheelchair. While I do have a wheelchair, I do often subluxate my wrists, elbows and shoulders while pushing myself and I fatigue myself like crazy pushing my chair around so the idea is to use the wheelchair on bad days or things out of the house that take only a couple of hours and then to use the motorized chair for bigger outings in an effort to not fatigue out whatever muscle strength I have left.

As far as meds go, I am taking this Mestinon and if that helps I will probably start steroid sparing immunosuppressants to suppress autoimmune attack. Targeted attacks with Monoclonal antibodies are also ofen used and in cases where I am getting worse (which is where I am right now) they can do IVIG infusions to neutralize harmful antibodies as well as Plasma exchange to remove abnormal antibodies. We need to see how I do on the Mestonin first to see what the next targeted course of action is for me.

As far as the disc in my neck, I am going to meet with a neurosurgeon to see if operating is the right move or giving it time on the MG meds is the right move. Either way all of this will take time. The physical and emotional weight of it all is all over the place and figuring out how our lives fit into MG and how MG fits into our lives is the next step. Figuring out treatements, PT/OT and everything inbetween will take time but having an answer and not chasing the unknown will help in focusing on having better days.