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…