Hello everyone! Today I had my appointment with my autonomic specialist to go over the results of all those test I had done last month! I absolutely love this doctor! He’s thorough and explains things really well.
My Level 3 cardiopulmonary stress test showed that I have low filling pressures and output. This means that when the heart fills with blood there’s supposed to be a certain amount of pressure to propel it out and to the rest of the body. My pressures are too low, and drop even lower (more than 60%) during exercise. This leads to low blood volume and causes all the symptoms. It’s consistent with veinous insufficiency. To try to treat this we are going to try really low doses of a few meds I’ve tried in the past (there’s only a handful of drugs out there to help this issue). The goal is to get to an effective therapeutic dose without causing any major side effects. We’re starting with a really low dose of Florinef, and will check in with the doctor in a week to see how things are going. If there isn’t much improvement we may try a super low dose of Mestinon, and the third drug to try is Midodrine. We have to be really careful because my Diastolic (bottom number) blood pressure is high whereas my Systolic (top number) is on the low-normal end. We don’t want to cause any hypertension.
The next thing is that my skin biopsy to look for small fiber neuropathy showed severe neuropathy. I’m in the <1% which means that my nerve fibers were barely detectable, which is really interesting since my last skin biopsy 3 years ago was normal. This absolutely suggests an autoimmune type autonomic disease. We’re going to do a second skin biopsy to test specifically for autoimmune reaction against the nerve fibers. If this is positive, which we are hoping for, I can start IVIG treatments to hopefully reverse the damage. My dr said that he has about 20 patients that present like I do and one in particular had improved so much that she is now able to be off of most of her meds! Granted, I will still be one a certain amount of medication because of the EDS related symptoms, but we’re hoping things will improve enough so that my GI motility improves and my energy levels improve so that I can start walking and being more active. I feel really hopeful about all this!
As promised, here’s the “Part 2” from the last post. But first, and update on the autonomic anomaly that I am.
I went to see my Cardiologist/Autonomic Rock Star and he actually shed some light one quite a bit. He said there is some definite signs of small fiber neuropathy going on. The small nerve fibers are what is responsible for all those involuntary bodily functions like breathing, temperature, regulation, cardiovascular function, and digestion. Yep, digestion! To be fair, we figured that my digestion and motility issues were partly autonomic in nature. It usually is for us EDSers. The bigger question was what was going on with my autonomic nervous system in the first place. Dr. Autonomic Rock Star said that given my symptoms, the fact that I don’t seem to fit the typical/more common type of autonomic disorders, and that my symptoms came on relatively quickly compared to most autonomic disorders, he really thinks that what I may have going on is actually autoimmune in nature.
He said that if it turns out it is autoimmune, there are treatments available that could help relieve the symptoms, possibly even help improve my intestinal transit. So before I have surgery, he wants me to under go a series of tests. Some blood work to check for antibodies against the cardiovascular system and the digestive system, sweat test as autonomic disorders can cause issues with sweating properly, skin biopsy to look at the small nerve fibers, and something called a Level 3 Cardio-Pulmonary Test.
The blood work was done in the office, no biggie. The sweat test will be done at the same time as the Level 3, I think. The skin biopsy was last week, but is, and deserves, a whole other post of its own. The Level 3 will be this coming Tuesday, and I have to say, I’m a bit nervous about this one as it involves a catheter placed through the jugular vein and goes into the heart and lungs. Oh yea, and I have to be AWAKE for this! A catheter will also be placed into an artery in my wrist, which can be harder to do than placing a basic IV. This test is to measure lung and heart function – According to the Mass General website it gives a “precise measurement of heart pumping function, blood vessel function and skeletal muscle function.”
So, until we know the results of all these tests, the surgery is post-poned.
I posted a while ago about the GI problems I have as a result of EDS and Mitochondrial Disease, in particular autonomic dysfunction associated with these diseases. Last month we had made the decision to go ahead and speak with a surgeon to get their take on my case. For a handful of years, I had tried nearly every medication out there, every combination of these medications possible, and even some alternative treatments and therapies available to me. Eventually all these medications, treatments, and therapies, stopped working, so off to the surgeon I went.
Going into the surgeon’s office I had a pretty good idea about what the plan would be. Being things as they were, it was looking like there is some decent nerve damage in the lower part of my digestive tract and knew that an ostomy was probably in my future. This is actually something that my doctors and I have talked about for a few years now. The first time it was mentioned I actually didn’t know much about ostomies and couldn’t believe that I would have to have one for the rest of my life. Not to mention that the first doctor to tell me this had an awful bedside manner and I often left his office in tears. Needless to say, I opted for a second opinion. While working with the GI Motility Specialist, we tried MANY different treatments like I mentioned before.
He sent me for a Smart Pill Study, which involves swallowing an electronic capsule that measures different things to discern the transit time of the different parts of the digestive system. The Smart Pill showed that my small intestine was borderline slow, but my colon couldn’t be measured since the battery on the capsule only lasts 5 days. What does this mean? Well. It means that my colon doesn’t work.
A few more tests were run to get a better idea of what is actually going on, but I will spare you all the lovely details of those tests. The important part is that they confirmed everything we suspected.
Anyway, back to the surgeon, who is absolutely wonderful! I love her! If you are in the Boston area and in need if a GI Surgeon, let me know! So, I meet with the surgeon and discuss what’s going on and how I was aware that my only choice at the time would be an ostomy. I had spoken at great length to some amazing young women who have ostomies and/or who have been through the surgeries I may be about to go through. So, I have come to terms with the fact that this will be life long. Well, to my surprise, the surgeon said that it wasn’t my only choice! She said I was a perfect candidate for a J-Pouch, which means that my colon and rectum would be removed and a pouch would be made from the end of the small intestine and then attached to . I would have a temporary loop ileostomy while the pouch healed. Then after everything is all healed, I would undergo a second surgery to reverse the ileostomy and then start using my new plumbing. The surgery is all scheduled but may end up being postponed. As part of the pre-surgery testing and to be cleared for surgery, I needed to be seen by my cardiologist, who is also an autonomic dysfunction specialist. More on that in my next post…
To Be Continued….
It certainly has been a long time since I’ve made any sort of update on here. There’s been so much going on and it can be overwhelming. One of my last posts discussed my GI system and what is going on with it. I sort of left things hanging, didn’t I?
Well, there is a bit of a reason for it. The surgeon I was seeing at the time had one of the worst bedside manners I have ever encountered and often left his office in tears. I did end up seeking out a second opinion and here’s were I’m at. My GI symptoms have been getting worse. The pain in my abdomen used to only come after I’ve eaten, now it’s there all the time and will get worse when I eat and randomly throughout the day. Sometimes nighttime can be the worst. The bloating is incredible and I can go from having my jeans be big in the morning to not being able to get them closed at night. Close have become so physically uncomfortable that I prefer to stay in pajamas. My diet sucks. I’m still on soft foods and mostly liquids. There are very few things that I can eat that give me minimal discomfort. I’m nauseous a good portion of the time and don’t even want to think about food. I need nutrition, though. So here’s my day in food for the most part. In the morning I have something like a Gerber’s Grabber. Yep, that’s right. Baby food. It’s the only way I can get fruit in. Hey, when you’re this sick you have to get creative and improvise. So, that’s breakfast. Mid-day, I make my own protein milkshake that actually comes out quite yummy! I mix a cup of almond milk, with a scoop of whey protein (chocolate), 1-2 tbsp of cocoa, 1tsp of something called “veggie magma” which is a powder and pretty much how I get any veggies, 1 packet of splenda, a banana, and a bunch of ice. Toss it in a blender and it gets really frothy and velvety. I let it go a bit longer than it needs to because it builds up in volume almost an extra 1/3 of what’s in there! For dinner, I will usually have a gluten-free english muffin with almond butter and some nutella (there are something I refuse to give up). I used to be able to tolerate a 1/2 cup of low fat ice cream, but now I’m having too much pain for even that. I may give sorbet or coconut milk ice cream another try. During the day I’ll have a snack of a rice cake with some almond butter, or a yogurt. I just bought a giant bag of Dum Dums to have something for flavor throughout the day. Depending on how I am feeling each day there is some variation and I may be feeling a little more adventurous.
In a few weeks, I am seeing one of the countries’ top GI motility specialists. I have been waiting for this appointment for a long time. I’ve had a few tests* that he ordered already and hopefully they will give us the answers we need to figure out what to do next. Whether it means surgery and what kind of surgery, or if there is an alternative that previous doctors haven’t thought about. All I know is that I can’t keep going on like this.
See, last summer I was actually doing really well! I had managed to get my butt out of the wheelchair and started walking. Part of that had to do with getting adequate pain control. I started of really small and by September I was walking close to a mile! I felt amazing! I was still struggling with my GI system, but this gave me something to focus on. It was short lived, sadly, because as the pain kept getting worse and I was getting about the same amount of nutrition as I am now so my energy started to drain. My limbs feel heavy, I’m so tired all the time, I’m not sleeping well because of the amount of pain I’m in whether it be from general joint/EDS pain from subluxations and dislocations or from my abdomen, and my hair is falling out again. Each day I pull out fistfuls of hair. Thank goodness I have a lot of hair, but it’s still very upsetting. The last time my hair was falling out was when I struggled with Anorexia.
*One of the tests is actually really cool. It’s called a Smart Pill Study and the REALLY cool thing is that the motility specialist I am seeing is one of the researchers associated with The Smart Pill!! Basically, the Smart Pill measures the transit time of the entire GI tract. You swallow an electronic capsule and it transmits information to a recorder that you carry with you and hit a button every time you eat, use the bathroom, etc., then bring the recorder back after 5 days and the dr will download and review the information.
On Thursday October 7th, me dear dear friend, Alexa Simmons, lost her battle with EDS and all that comes with it. She was only 22 years old. She had been in the hospital fighting off infections and contracted meningitis and shortly went septic. She was doing great earlier in the week and was upbeat and positive like she always is, even on Thursday afternoon she was doing well. Something happened that evening and she ended up going into cardiac arrest. Her body couldn’t take it anymore and she passed away late Thursday night.
Along with EDS, Alexa also suffered from Autonomic Dysfunction, Chiari Malformation, Seizures, and was having blood clotting problems. Her fight was a long and hard one.
Alexa was one of the strongest people I know. She never complained, no matter how bad things got. She was always upbeat and positive and had a smile on her face. She was there for me when I was starting my journey in finding a diagnosis for myself. She helped me through the roller coaster emotions that come when you finally get that diagnosis and understand what it entails. We laughed together, we cried together. I take solace in knowing that she is no longer suffering and no longer in pain. I will miss her greatly and she will be in heart always.
I found this letter through a personal website of a woman fighting Gastroparesis and Digestive Tract Paralysis. Two things I also struggle with among other things. When I found this letter, I was struck by the honesty and truthfulness of it. So many of us struggle daily with seemingly invisible chronic and painful conditions that many don’t understand. How can they? They don’t live with it, which is why awareness is so very important. It’s also important for those who love us and care about us to understand some things about living with chronic illnesses. Ricky Buchanan also thought about this and decided to construct this letter. This letter has been spread around the internet by those of us living with “invisible” chronic illness because we desperately want those around us to have some insight. It is not meant to be insulting, just informative. Thank you, Ricky!
Having an invisible disability (ID) and/or invisible chronic illness (ICI) means that many things change. Just because you can’t see the changes doesn’t mean they aren’t real.
Most people don’t understand much about these disabilities/diseases and their effects, and of those that think they know, many are actually mis-informed. In the spirit of informing those who wish to understand …
… These are the things that I would like you to understand about me before you judge me…
Please understand that being disabled/sick doesn’t mean I’m not still a human being. I have to spend most of my day being very careful what I do, and if you visit I might not seem like much fun to be with, but I’m still me stuck inside this body. I still worry about school and work and my family and friends, and most of the time I’d still like to hear you talk about yours too.
Please understand the difference between “happy” and “healthy”. When you’ve got the flu you probably feel miserable with it, but I’ve been sick for years. I can’t be miserable all the time, in fact I work hard at not being miserable. So if you’re talking to me and I sound happy, it means I’m happy. That’s all. I may be tired. I may be in pain. I may be sicker that ever. Please, don’t say, “Oh, you’re sounding better!”. I am not sounding better, I am sounding happy. If you want to comment on that, you’re welcome
Please understand that being able to stand up for five minutes, doesn’t necessarily mean that I can stand up for ten minutes, or an hour. It’s quite likely that doing that five minutes has exhausted my resources and I’ll need to recover – imagine an athlete after a race. They couldn’t repeat that feat right away either.
Please repeat the above paragraph substituting, “sitting up”, “walking”, “thinking”, “being sociable” and so on … it applies to everything that I do.
Please understand that the effects of chronic illnesses and many disabilities are variable. It’s quite possible (for me, it’s common) that one day I am able to walk to the bathroom and back, while the next day I’ll have trouble sitting up. Please don’t attack me when I’m worse by saying, “But you did it before!”. If you want me to do something, ask if I can and I’ll tell you.
Similarly, my illness/disability may vary suddenly, meaning I may need to cancel an invitation at the last minute, if this happens please do not take it personally.
Please understand that “getting out and doing things” does not make me feel better, and can often make me worse. Chronic illnesses/disabilities may cause a secondary/reactive depression (wouldn’t you get depressed if you were stuck in bed 23 hours a day for years on end?) but they are not caused by depression. Telling me that I need some fresh air and exercise is not not correct and probably not appreciated – if I could possibly do it that, I would.
Please understand that if I say I have to sit down/lie down/take these pills now, that I do have to do it right now – it can’t be put off or forgotten just because I’m doing something else more exciting. Illnesses and disabilities do not forgive their victims easily.
Please understand that I can’t spend all of my energy trying to get well from my incurable chronic illness/disability. With a short-term illness like the flu, you can afford to put life on hold for a week or two while you get well. But an important part of having a chronic illness or disability is coming to the realization that you have to spend energy on having a life while you’re sick/disabled. This doesn’t mean I’m not trying to get better. It doesn’t mean I’ve given up. It’s just how life is when you’re dealing with a chronic illness/disability.
If you want to suggest a cure to me, please don’t. It’s not because I don’t appreciate the thought; and it’s not because I don’t want to get well. It’s because I have had almost every single one of my friends suggest one at one point or another. At first I tried them all, but then I realized that I was using up so much energy trying things that I was making myself sicker, not better. If there was something that cured, or even helped, all people with a certain illness or disability then we’d know about it. This is not a drug-company conspiracy, there is worldwide networking (both on and off the Internet) between people with similar and different chronic illnesses and disabilities, if something worked we would know about it.
If after reading that, you still want to suggest a cure, then do it if you must. Preferably in writing and accompanied by the scientific papers that prove it works. But don’t expect me to rush out and try it. I might not even reply. If I haven’t had it or something like it suggested before, and it sounds reasonable, I’ll probably take what you said and discuss it with my doctor.
Please understand that getting better from an illness can be very slow. And getting better from an invisible disability might not happen at all. People with chronic illnesses have so many systems in their bodies out of equilibrium, and functioning wrongly, that it may take a long time to sort everything out, if it ever happens.
I depend on you – people who are able-bodied – for many things.
But most importantly, I need you to understand me.
It’s 1:11am… I just finished a jewelry project that I am excited about! Whoot!!! However, the overwhelming nausea and stomach pain is keeping the smile from coming to my face. Even though I really am happy about finishing a project, I can’t enjoy it because I feel like crap. That’s how it’s been for me for years, except… now it’s all intensifying. I can’t sleep because I have cold sweats, I’m nauseous, I’m in pain and there is nothing I can do about it. Meds aren’t helping. Is it sad I am actually looking forward to getting these tests done?