My Journey with myoclonus dystonia took a sharp turn after I stopped writing. In 2016 I went back to just doing botox and no other treatments for a while it was fine... for a while I was doing actually pretty well dystonia wise. I was still having bad days but I was having 4 bad days to every 3 good.. and for me that was great progression. I was able to go out with friends more often and even met my now husband. I was having some odd symptoms like light headed and fast heart rate, but I thought it was stress for a while. It didn't shake though.. so I saw a cardiologist. They said I had some issues with the electrical part of my heart as I did not do as well as they wanted on the tilt table test. They put me on beta blockers. These made me SO tired and I stopped taking them after 2 months. My PCP at the time said to just cut down on stress and add more salt to my diet and I would be fine. (this will all be relevant in my very long story later.) My Neurologist kept insisting something else was happening to my body that this wasn't just dystonia. These Symptoms were not MD related. However my PCP at the time said they were and that I was just anxious, so I again waited to see what was happening. The Gastrointestinal problems returned GI Doctor said I had inflammation they weren't sure from what they said maybe the muscles around my bowel were too tight and referred me back to the neurologist. I started having bad kidney pain again towards the end of 2016 Ended up in the ER with a kidney stone and they said decreased kidney function. I had kidney damage. I started getting fatigue that all my doctors said was just from over active muscles. Again this is relevant later.
Back to MD. The doctors had not given up treatments but we got stalled out as the drug trial at the NIH was put on hold. They however signed me up for another trial and I enrolled for the DNA study for that.
They said it could be a year before anything came of that.
In late 2016- Early 2017 My boyfriend (now husband) and I went to a NASCAR race. We were in the sun about a hour or so. I wore sunblock but we had to leave because I broke out in a rash all over my body and felt like I couldn't breathe. It was not going away so after 4 days of it I went back to my PCP who I now thought to be useless. I showed her the rash, I told her the fatigue was getting worse, and my heart rate was still spiking. She again told me I had anxiety if I saw a therapist my heart would not beat so fast. She said it was probably just eczema and begrudgingly sent me to a dermatologist. I am going to name her here because she was the first Doctor other that my neurologist to listen to me. By the time I saw her the rash was gone. But I had some serious hair thinning. She thought I may have some Rosacea gave me a cream to try. Told me if the rash showed back up to call and she would get me right away for a biopsy. A couple weeks later it did. She biopsied my arm. I told her how my fatigue was starting to really impact my life. I told her My GI issues had returned. She told me I was the most interesting case she had and that she may not have the answers right away but she was going to try to help me. And she did. Doctor Lindsay Ackerman was the start of what would be a LONG uphill battle that I am still fighting. While I waited to get the results I saw a new GI doctor. They scoped me and found significant inflammation again in my small bowel. The doctor said he couldn't find the cause of it though because the GI biopsy came back negative for Chrons and Colitis. My blood work at this point I had a high IGA that points to Inflammatory bowel disease.. Or other autoimmune diseases like Lupus. He started me on a medication that was supposed to help calm the bowel. My skin biopsy came back conclusive of Autoimmune disease as well. Dr. Ackerman Sent the results to my PCP who then did blood work. It was negative for autoimmune. She said it wasn't autoimmune, and guess what she told me? It was ANXIETY again. She said I may have IBS but that was common and no big deal. (WHY does this woman still have a medical license???) I was frustrated I wanted answers I was short of breath more times then not. My life However outside of this was fantastic. I was sure I had met the man I would marry. We were making plans for our future. It was a time filled with great possibilities so I decided to just ignore everything going on the best I could.
Because I am spontaneous sometimes.. We decided we were going to move to a really small town in Nebraska. I mean SMALL folks. Population 7,500 to be exact. My brother lived a town over and Nebraska the cost of living is CHEAP. So that was lovely. It was fun for a bit. But I started having dystonia problems... more severe than before as my right two bottom ribs kept becoming dislocated. I was in a lot of pain and having to travel to and from Arizona for Botox. I saw doctors in McCook NE for them to move the ribs back into place and then the constipation started again and this time more severe. Fatigue started in also and I was at the grocery store with my boyfriend when the tachycardia started again. I felt like I was going to drop suddenly and my boyfriend grabbed me just in time as my face had completely drained of color. I went to the ER but its a small town folks. My BP was low so they had me see a cardiologist. I had to wait though as the closest one was 4 hours away. He would be the doctor to identify that I had postural orthostatic tachycardia syndrome also called POTS. This was the start of a real spiral for me. I thought though this was the worst it would get. Life has other plans now I see. My boyfriend and I went to Indiana for Christmas 2017, he asked me to marry him and of course I said yes! He is a kind man who has seriously changed my life. He is the kind of person I dreamed of meeting because he truly cares about me. He looks after me and makes me laugh even when I want to cry. (sometimes that is a lot) It was some of the best days of my life.. but it was hard because my health was going down quick. We decided to move back to Arizona as I needed more healthcare then what was available and I needed answers.
So In 2018 we moved back and I went back to the same PCP who said the same nonsense. By this time I was done with doctors blowing me off. At the same time I also Had a change in insurance so I got a new PCP. New PCP seemed better at fist. He sent me to a new GI said it was probably Chrons that the other GI had to have a diagnosis since it was clear inflammatory bowel disease. I would learn however he has no interest in dealing with a hard puzzle. I saw the GI several times. He said I had diverticula and inflammation but no signs of Chrons. By this time I feel like I am dying. I wish I could put that into better words to not sound so dramatic. I would rather go through the DBS surgery 100X then what I was feeling. I was sick all the time. My BP was constantly low. I had NO energy to do anything and I had a new symptom I felt like my bones were on fire. Parts I didn't even know I had were hurting. Think about coming down with the flu or mono... but it NEVER ends. I couldn't even dress myself some days. I thought for sure I must be getting lupus like most of the other women in my family. They did blood work it all came back negative. Saw the PCP he said there is no way its Lupus if the blood work is negative its my GI... So back to the GI doctor I went. I cried in his office. I told him..might have begged him for help. He told me to see a new PCP... He said it is absolutely possible to have a autoimmune disease and negative blood work. He sent me to see Dr. Sara Stimson-Riahi. She is a godsend. She read my file before I saw her. She spent a hour with me compiling all my medical records from all the places and told me she definitely could see something wasn't right. I would see her every week for 2 months she ran a lot of blood work. My kidneys are damaged. I was bleeding internally. My heart rate was high all the time and my BP scarily low. GI issues were awful I was lucky to have a bowel a movement 2x a week. I was losing a ton of hair. I couldn't do anything alone. She decided to put me on steroids to see if I responded. I did. I felt better I didn't feel like myself but I wasn't scared I was dying anymore. I was able to get some sort of life back. But they couldn't keep me on them. She sent me to a new rheumatologist. They did a bunch of blood work. It came back negative. While they figured out the next step I was supposed to be getting married. What most people in my life didn't know though was I couldn't even stand up for more then 10 minuets at a time. My fiancee and I talked about what would happen if I were to pass away. We were desperate for answers I was desperate for help. My PCP said she would do more steroids to get me though the wedding. So I started the steroids again and things were tolerable again. I got married the best day of my life even though I was in a ton of pain still. I wish I didn't have all this crap clouding that day. The next few weeks the rheumatologist pulled all my old records and they were convinced that its auto immune also. My tissue samples said what my blood work did not. They started me on a immune suppressant with all my symptoms and organ involvements they made the diagnoses of Mixed Connective Disease. The pain in my hands got better but my skin got much worse also I was still exhausted and bleeding. this is bringing us current the last few months they said they believe I also have Psoriatic Arthritis and Fibromyalgia. I have Psoriasis for sure, and joint involvement as my fingers have started to curve and lock up I also have some bone fractures. I am doing new blood work tomorrow to see if an markers have shown. I was in the ER the other day I have had severe constipation for weeks and because of that I now have a colon prolapse that has to be surgically repaired. I am on two strong immune suppressants one by pill 2x a day the other is a chemo therapy drug I do by shot once a week, and a bunch of other crap to help me get through the days. I saw the Doctor today again they are doing another round of steroids. The pain is more manageable still more than any person should have to go through. I still am having terrible GI problems (clearly), kidney problems, and Heart problems. They want to add a Biologic to this mess but they can't without proving to the insurance that its needed. So I may be doing another biopsy. The Doctor today told me today they aren't completely sure I don't have lupus. I have a bone tumor they found that they believe is benign but that just showed up over the last 6 months.
My heart rate is 121 Beats per minute while writing this.. For those of you who don't know, the resting heart rate of a healthy woman that's my age ;) is between 75 and 80 ish.. 121 would be if a Healthy woman was jogging or doing a fast walk. I am siting here and out of breath. So here is some realism on whats going on and how I feel. Things I haven't talked about.
I was reluctant to take all the immune suppressants and poisons that they wanted to pump me full of. But my doctor gave me a reality check by telling me that people with autoimmune and organ involvement who do not suppress their immune systems usually go down hill quick and can shorten their lives to 6-12 years from diagnoses. So here is an idea what living with this is.. Its being scared. I am scared that I will not get to live the life I hoped. I am scared my husband will lose his partner, that my parents will lose their daughter. I am scared of being just a memory. Dystonia was a monster but I was able to work with it, it wasn't going to kill me. This... this feels like your life is slowly slipping away. You grieve. Its like the death of your old self you are replaced with someone who is scared, angry, in chronic pain, and too tired to deal with any of it. Its CONSTANTLY feeling like your heart may make you pass out or just stop beating. Its a lot of days spent crying because you cant get dressed or shower because the water hurts your skin. Its wanting to "snuggle" with your partner but you can't because you are just too dang tired and sore. Also If your heart rate is already high so that could do you in. Its looking back 5 years and regretting all the time you wasted on stupid shit while you felt okay. My heart aches almost as bad as my body. Its having your partner tell you that you are looking good a day because your skin is finally not grey. Its your partner telling you that they were always frustrated because they couldn't fix it and sad to watch it but they never felt scared ..until now. Because not only do you feel like your dying but you look like it. Your heart aches for those you love because you know they are suffering also because they are losing you as you are losing yourself. You battle every second to hold on to anything that makes you feel "normal".
Dealing with all of this is terrible now imagine dealing with it while people are telling you that some new exercise and fad diet is going to cure you. Or you need more sunshine (My skin literally has a allergic reaction to the sun now, and anything more than a short walk makes my blood not return fast enough to my heart) It is like wanting to ignore all your problems but you cant.. because your body is the problem...Oh and now you are dealing with anxiety and depression because you are trying to cope with everything and the immense fear of dying before your dreams come true. Its Brain fog so bad you can barely function because your brain along with all your body is also inflamed.
Its losing 20 pounds in a month because the medication makes you so sick. Also most days food makes you really sick. Its wanting to do something with the people you love so badly that you push through it so you don't miss out. And the next day your hands are stuck or your ankles and feed are so swollen you cant bare weight. Its having your body break out in hives because you ate something (God only know what it is that day because it changes daily) that your body thought was a threat so it begins attacking itself because it thinks something is wrong. My body is a zombie really as its eating away at its own self. Its pleading with god every night that you will do anything to just have a good day tomorrow.. that you just want your like back and you would take not even fully. Most of us suffering would take a like at 75% of what it was.. maybe even 50%. You look in the mirror and you don't see yourself anymore. You see a gross shell of what you were. Its having people tell you how "brave" you are. When you know you aren't. I Only go through my days like this because there IS NO OTHER OPTIONS. Its not bravery. Its desperation and sometimes hope. Its knowing you love SO Much about life.... but you cant feel anything because you are simply doing everything you can to just keep breathing. You are dealing with the trauma chronic pain causes. When you get to pain at this level its like....hmmm.. think about it like breaking your leg and you get pain killers and you can cope with is because every day it gets better and the pain killers help you make it through the short term pain. This is having a broken leg.. for months maybe years on end. Its not healing and you have NOTHING that helps the pain...oh also every now and again you will also dislocate your hip but you still have to try walk on your leg every day. Its having to wear a mask when going to the store because you absolutely cannot get sick. Its not hugging some of the people you love because you cannot risk coming into contact with something you cant fight off as your heart and kidneys are already struggling. That is what its like... and I wish I was being dramatic.
I keep thanking all those around me because I know I am not a ray of sunshine lately. I love you all and I am doing my very best. I smile because of you all... not because I feel good or because its tolerable. I smile because I still have so much love for life.
With that I am ending this tonight because its long. I am not going to proof read this as I am exhausted just writing it. 