Since the explanation of what’s going on with my health is not the easiest to explain, I thought I would just write it down once, rather than repeat the whole thing over and over again to everyone. I’m going to go into some detail, so bear with me. Let me know if you have any questions after reading this, and I will be happy to answer them.
As you know, I have been struggling with health issues for the last 2 years that have been significant, and life-changing. Many of the symptoms are internal, so you may not have even noticed anything out of the ordinary.
It started with a headache that would not go away. I had a searing pain going up the back of my head on the right side. It was always there…lots of pain, and just walking across the room made it throb even more. I was in bed by dinner, and sleeping was the only thing that made the pain go down a little. No amount of OTC headache pills would make it go away. This lasted for more than a week with no relief, so I headed to the doctor for an explanation. I was treated with antibiotics to see if it was just a sinus infection; and was tested for Lyme disease since it is very common here and I did have a tick bite. The tests were negative, and the headache didn’t resolve after the antibiotics (no sinus infection, either!). Additionally, the pain now extended into my right eye, which was now blurry and felt “prickly”. Also, I started having extreme fatigue, visible tremors, and nerve pain in my right hand and foot. They feel like electric zaps running through them. I was dropping everything I picked up, and tripping over my own feet. Also, I was also experiencing dizziness, and was falling a lot. I fell against walls, down stairs, and had bruises all over me. Plus, the headache was still there, and wouldn’t let up. I also started having trouble with my speech; it was hard to find the words. You know that feeling when you are looking for a name and it’s right on the tip of your tongue? It was like that, but it was happening many times a day and it was with everyday words like “chicken” or “iPad”. It got to the point where my 5 year old son was finding the words for me. (We made a game of it!)
I saw my GP, chiropractor, and a neurologist. I was told I needed to be tested for a brain tumor, and had a battery of blood tests and a CT. They tried me on several drugs to see if anything would help the headache: migraine meds, seizure meds, pain meds, and even antidepressants. None of these worked for me.
Although they didn’t find much on the CT, I did test positive for Celiac disease on my blood tests (which I had suspected for a long time) and also a rare genetic blood disorder called Beta Thalassemia. How did I not know about this until I was in my 40’s?! Finding this out actually answered a lot of questions about the anemia I have had since I was a kid. Beta Thalassemia means my body does not create enough red blood cells, and the ones I do create are very small and misshapen. I also have very low iron which will never increase, even with supplements. Iron is actually something I need to stay away from, since my body can’t process it due to the Thalassemia. This blood disorder is similar to Sickle Cell Anemia, which is not so rare.
So, thinking the headache was from the blood issue or Celiac, I tried acupuncture, not eating grains, cut out dairy, sugar, and most meats. I saw a hematologist, and she said the headache and other symptoms were not from this blood disorder, as far as she could tell.
Nothing helped the headache, and other symptoms that had been surfacing, like a prominent foot drop on the right side. I went to my eye doc to see if the headache pain was related to my vision, and he ran me through a battery of visual tests (called Evoked Potentials) and found I had Optic Neuritis, which means I did have some damage to my optic nerve. Also, this kind of nerve damage is specific to MS alone, so I was then set up with a neurologist.
Working with the MS diagnosis, my docs had me do a brain MRI, which showed the optic nerve issue, but it was resolving with hardly any residual scarring, which is good news! But it did mean I have MS, which made me hide under the covers and cry for a couple of days. I did lots of research and most of the symptoms matched that diagnosis. So I was put on meds to manage the tremors, the nerve pain, and I started getting cortisone injections in the back of my head to help the headache.
My symptoms were all still there, but were “muffled” by the meds. Then I started having numbness in my upper right leg, and had many, many more tests done to figure out what was causing all of this: cranial and spinal MRI’s, blood tests, EMG’s, and even a spinal tap. They sent me to neurologists again, and a gastro doc for the intestinal issues that were going on. He confirmed that my Celiac disease was in check, so that wasn’t it. I saw two neurologists to find out what was going on; one insisted it was all from migraines (but couldn’t specify what kind) and the other suspected the MS, but the pattern didn’t quite fit. So, I continued with the meds to manage symptoms, and added ballet barre to my workouts to help the foot drop issue (which is still there, but WAY better since the ballet class!).
Flash-forward through a year and a half of all of this, and I had the first of what I call an “episode”. It starts with sudden and extreme nausea; within a minute or so i’m on the floor; I can’t move, my whole body shakes, I can’t talk, my heart starts racing, and I really struggle to breathe. I also have terrible pain in my gut. So, I just lay on the floor, or wherever I happen to be when this hits, and wait for it to pass (usually about 1/2 hour). This has happened in front of others, and they either get scared, or think I have some kind of food poisoning. I had three of these over a period of 6 months. After the second one I went back to my regular doc, and he said it sounded like something is wrong with my Vagus nerve, which controls your lungs, heart, kidneys, stomach, temperature control, intestines, and the liver (also called the Autonomic System). After a third “episode” (mid-July) my digestive system stopped working. (Warning! Graphic detail coming up!)
I had severe stomach pain and stomach distention, and didn’t poop for three weeks! This brought me back to my regular docs office, and a visit with the other primary at that office (my regular doc was off). This doc also mentioned the Vagus nerve and said it sounds like my Autonomic System isn’t working. He said I had almost no motility in my stomach and intestines, and talked to me about Gastroparesis. He wanted to send me to my local neurologist first, but said he was going to refer me to Brigham and Women’s Hospital (BWH) in Boston to have an Autonomic Specialist see me.
I saw one of my neuro docs and he still insisted these were migraine events and said the next time I felt an attack coming on I should try using Imitrex nasal spray, which is used for migraines, to see if that stopped the attack. He told me he didn’t think it was anything but an abdominal migraine, and asked me if I was depressed! Now, I may be a little nuts, but definitely not depressed! I laugh all of the time, crack jokes, and I am a genuinely upbeat person! This is the guy who put me on meds initially that caused a seizure (did I forget to mention that part?) and he never listens to me. He gave me a script and sent me on my way in tears. Needless to say, he is no longer one of my neurologists. I had an attack, tried the medicine (which didn’t work) and called the next day to tell this neurologist that he was fired.
The second one is very reasonable and has many years of experience, and did confirm my MS diagnosis after my initial visit, addressed the leg numbness, headache, etc. Very thorough. So I went back to him, and he agreed it sounded like an autonomic dysfunction and referred me to BWH for specialized testing as well. He also said he didn’t think this issue was related to the MS because the Vagus nerve does not have the Myelin coating like the others, which is the specific thing that MS damages. We chatted about conditions that can cause Vagus nerve damage and he had a lightbulb moment, and asked me if he could do an additional quick assessment.
He did a test where he takes my blood pressure and pulse while I am lying down, sitting up, and standing, and noticed a huge fluctuation in my readings with each. When I stood up, my blood pressure dropped significantly (way below normal) and my pulse increased by almost 90 points! Then, he suggested I see my gastroenterologist again to see what they could do about the Gastroparesis, while I wait for BWH to call for autonomic testing.
My gastro doc again tested for a Celiac flare which can cause some of these issues, but everything came back negative. He suggested more meds for the gastro issue, but I wanted to do some research before I went that route. He also have me a routine, and some (*ahem*) “manual” things I could do so I could poop. So now I have to set aside a day or two every week to make sure that happens. How humiliating! But he gave me some resources about gastroparesis, which has helped me deal with this part much better. So now I “eat” mostly smoothies so I can make sure I get my daily nutrition and greens, since I can only eat about a cup or so of real food a day. My stomach hurts and gets really hard and distended if I eat anything that isn’t easy to digest since it sits in my stomach about 4 hours before it even starts to break down. What I do eat, I have to cut into very small pieces, which does seem to help a little, but makes me look like a moron. I have lost 15 pounds in less than 2 months because I just can’t eat much. As an Italian girl who loves to eat and cook, this has been the hardest thing for me to deal with. It is a constant source of frustration since I can’t eat what I want to anymore.
Anyway, all of my symptoms are still present, but I have also been tracking my heart rate through the day now. I have found that the dizziness and headache always get worse when I’m standing up, as well as many of my other symptoms. So, after compiling all of this info, talking with my docs, looking at data online and from my tracking tools, and pouring through test results, we have discovered that autonomic dysfunction is definitely what is going on here. The Vagus nerve isn’t working properly, which has caused both the Gastroparesis, and a heart problem (!) as demonstrated by the pulse rate, low BP, heart racing, and all of my other symptoms. However, autonomic dysfunction is usually secondary to another process, which is why we looked to my Celiac disease and/or MS being the cause of the nerve malfunction.
BUT – after even more research, I found that low blood volume is also a cause, which is exactly what happens to people with Beta Thalassemia! I looked at all of my blood tests over the last 2 years, and that was always a constant. Every blood test was flagged for low blood volume, anemia, low red blood cell count, small/misshappen red blood cells, etc. These cells produce oxygen and supply your body with what it needs to regulate temperature, digestion, and supply oxygen to the muscles of your body. A lack of oxygen to the muscles causes tremors, extreme fatigue, weakness, and peripheral nerve damage, which causes numbness in the hands and feet. It also causes heart dysfunction, specifically tachycardia. Also, HEADACHE is one of the primary symptoms! So after ALL of this, I talked to my primary doc again, and he got me into the BWH testing center with a doc who specializes in rare diseases like this. They scheduled me for testing ASAP. After a lengthy conversation between them, they seem to be sure this is Postural Orthostatic Tachycardia Syndrome, or POTS. My second neurologist was on the right track with the blood pressure testing!
Some info: There are many different “strains” of POTS, but it is an autonomic disease that has long-term effects. There is way too much info to list here, but here is a website that has the most concise information, which is put into an easy to understand format (and honestly, has a more positive take on the disease).
So, I am headed to BWH on Tuesday the 11th for what they call Invasive Cardiopulmonary Exercise Testing, or iCPET. In a nutshell, the docs will insert catheters into an artery in my arm, one in my neck (carotid artery), and they will also thread one down that artery into my heart (yikes!). I will be under local anesthesia at all three cath sites. They will do ultrasounds of my arteries and heart, and then take multiple blood samples from all three catheters while I’m on an exercise bicycle, running through various resistances. I will also have on a mask that attaches to a machine which will read my oxygen and carbon dioxide levels in my breath/lungs throughout the test as well. This will give a very clear picture of exactly what is happening with my cardiopulmonary systems as I am going through various activities, and they will know exactly what meds and methods I will need to employ to manage the symptoms.
At the end of October, I will meet with a team of docs who will give me a detailed treatment plan, and information on what I can expect for the future. I’ll also have an idea of what kind of functional decline I can expect, and what kinds of assistance is available to me.
So…I know this is a ton of info to take in all at once, and don’t feel that you have to understand all of it. I just wanted to let you know what you can expect from me and for me going forward.
In a nutshell:
I do have MS, but we are classifying it as CIS, or Clinically Isolated Syndrome since it looks like most of the other symptoms we thought were from MS, are likely from the autonomic issue. It means there is a 60-80% chance I will develop “full-blown” MS within 10 years. However, I may get lucky! (Fingers crossed!)
It appears I also have Orthostatic Tachycardia (POTS). Even before the invasive tests, I fit all of the clinical criteria necessary for a definitive diagnosis. My symptoms from this are widespread and can vary from day-to-day, because the autonomic nervous system plays an extensive role in regulating functions throughout the body.
The most common symptoms I experience are:
-Headaches – orthostatic headaches/migraine
-Fainting, or near fainting
-Tingling and numbness in my hands and (partial) right foot
-Constant nausea and heartburn
-Brain fog and forgetfulness (lack of blood to the brain due to low blood volume.)
-Exercise intolerance (Yes, it’s a real thing!)
-Gastroparesis, and all that goes with it
-Sweating irregularities (basically have no temp control anymore and can’t sweat to cool off my body)
-Purplish discoloration of skin due to blood pooling in hands and feet (my legs sometimes feel like they weigh 100 pounds each)
So when I forget things, drop things, spill things…please be patient with me. The frustration I feel, and the anger I have at my own mind and body is way more than you’ll ever know. I’m just trying my hardest to do what everyone else does without having to think about it; move, walk, eat, poop, etc.
I know I haven’t been sharing much of this with you, but I did not want to be Debbie Downer (wah-wah) or to be the girl who always complains. It’s no fun to hear about it, and it’s no fun to complain about it. I was really just trying to maintain some normalcy for all of us.
Please let me know if you have any questions or comments on all of this…and if you don’t have any, that’s fine, too! I’ll let you know how the procedures go next week, and even more when I get a treatment plan.
Thanks for listening!