In brief: I spent a week at Mayo and am awaiting insurance approval to do some genetic testing in hopes of discovering what’s actually wrong with me. I have 2 of the 4 markers for a genetic disorder called HHT (Hereditary Hemorrhagic Telangiectasia). The third marker is a family history or a genetic test. But the test is somewhat expensive ($5000) and not 100% accurate. You are “diagnosed” with the disorder if you have 3 out of the 4 markers. Regardless of the outcome with insurance or the test, they will treat me as if I have it and watch for signs of two others as well.
The extended version: After I got out of the hospital in January I continued to have a headache and back pain – which was normal for my condition. But in early February I had to return to the ER because I was having other pain that I shouldn’t and doctors could not attribute to my condition. While I was there, 8 or 9 different doctors came into the room to examine me. At about the 6th or 7th one I asked “Where’s the first doctor I saw? Why are so many different doctors coming in?” He told me that they were talking about my chart and everyone was intrigued by it. They were all trying to put things together and figure out what was wrong with me. “When we see more than one unexplained medical phenomenon in one person, there is usually an explanation.” I informed him that during my previous stint at their hospital they ran numerous rheumatological tests trying to tie my collapsing lungs to Corah’s heart condition and my head but came up empty. All the tests came back negative. He responded “In time, they won’t.” What in the world is that supposed to mean?! That’s a real confidence builder! “As you get older, one or more of those tests will come back positive.” Unfortunately all they told me they were testing me for was connective tissue disorders, autoimmune disorders, and loupes. Autoimmune disorders alone encompass a vast array of medical issues, not to mention the ramifications of either of the other two. In the end they gave me two new prescriptions (a muscle relaxer and an anti-inflammatory) They wanted to keep me overnight, but I was pretty much done with the hospital at this point…or so I thought.
Shortly thereafter I began having a severe shooting pain in my hip. You know the shocking feeling when you hit your funny bone? Put that in your hip, wrapping from your back to your front and then shooting across your waist. Add to it that it is random and you can only get relief by standing straight up from whatever position you’re in – sitting, laying on my stomach, laying on my side, etc. I had to drive with my seat tilted way back, one student remarked “Drivin’ gangsta style.” I couldn’t take it anymore. It would wake me up at night, I would stand straight up in the middle of things going on and people would look at me like I was crazy…I already know I am so I didn’t really need their confirmation, but this was just too much for my introverted personality to take. It got to be embarrassing. So I went to see my Primary Care Physician. And that’s when things got interesting.
Upon walking into the room she said to me “Did you know that you’re in the top 25%?” Baffling…I haven’t been in school for years…she doesn’t know what I do…what is she spouting off about? My hip really hurt so I played along. “Ummm…no.” “Yes. 25% of people who have a subarachnoid hemorrhage, like yours, die instantly. Of the 75% that make it to the hospital, 50% have severe complications in the hospital. Only 25% walk away unscathed. You’re in that 25%.” “Really?! They never told me anything like that when I was in the hospital?” “Oh, they just didn’t want to scare you.” Then why are you telling me now?!?!? Is that supposed to be comforting? The conversation went on and she found out what I do. Whenever someone asks me what I do, I always start out with “I work with teenagers” then I lower the boom with my title “I’m the Pastor of Students at First Southern Baptist Church.” The pastor word is usually less shocking to them than the fact that I work with teenagers – Not many people find that a rewarding task. I’ve even gotten comments like “Good luck with that!” before I ever got my title out.
Once she knew I was a “Pastor” of sorts, she said “Have you asked God why He didn’t just take you? Or what you are supposed to learn from this whole experience?” I kinda chuckled and she went on, “I always wonder what people who go through near death experiences are thinking.” Really?! Who knew I had a near death experience? Was she trying to kill me now? My heart rate had nearly tripled. I never responded, she laughed it off and we moved on.
I gave her all my records from KU to see if there was anything that she needed to see. When she came to the rheumatology page she pulled it out to make a copy and stated “I just want to know what tests have been done.” With that I told her what the ER doctor had told me and she responded “Yeah, we don’t really know what’s wrong with you so we’re just waiting for the next thing to happen.” Next thing? To me, collapsing lungs and a bleeding brain aren’t minor issues. I mean did she just listen to what she said? “Near death experience.” Was the “next thing” going to kill me? She calmly moved on to examining my hip while my heart and mind raced trying to fathom the “next thing.”
She eventually did some blood work and sent me in for a CT scan. I got to drink some awesome contrast stuff they tried to make taste like lemonade. Kudos for trying, but I think they need to go back to the drawing board. While we’re on it though, if you want to be a millionaire, figure out how to make the metallic taste you get when they flush your IV bacon flavored. People would love you forever.
The CT didn’t show anything so they decided to do an ultrasound. The ultrasound showed that I had a gall stone or polyp. They didn’t know which, but said no surgeon was going to touch me for like 6 months because of the bleed in my head. Consequently, they told me to change my diet and stay away from fatty foods. I wasn’t buying it. The pain I was having was contrary to everything I had heard about gall bladder pain. And nothing said anything about pain in your hip. It was all about pain in your chest and back. Being the scientific genius that I am, I came up with a hypothesis and put it to the test. I went to McDonald’s with my kids. I ate the greasy burgers, no change. It didn’t get worse, it didn’t get better. Nothing helped it – aside from the muscle relaxer, but when I took that I was out for like the next two days in a fog. My choices were 1. Live mostly pain free aside from the sporadic spasm, in a fog. Or 2. Deal with the pain. Ahhh, the choices were both so appealing I rarely knew which to choose.
I went for a return visit with my neurologist. He asked if they had taken out my IVC filter yet – No. When I left the hospital they told me that they would take it out within two weeks. Two weeks passed and no one had contacted me. I called the neurologist and he said he would contact radiology to have them take it out. They never called, so I called them. The nurse I talked to basically made fun of me. She said “We take those out when you’re done with them. Are you done with it?” How was I supposed to know? It was put in to catch a blood clot that no one was checking to see if it was still there. She told me she would talk to the doctor and get back with me tomorrow, that was sometime in late February. So the neurologist told me that he would contact radiology again and make sure they got it out. They have yet to call me. He sent me for two different ultrasounds of my hip area as well. They found nothing.
I should also mention every time I went in for an ultrasound, they scanned everything around my hip, but never my hip. I would say “I’m here because I have pain in my hip.” They would respond “I am going to scan __________. Maybe the doctor thinks your pain is radiating.” All three ultrasounds were useless. They found nothing. You would think they would scan where it hurt…
Since no one could figure out my hip pain and apparently I had some disorder lurking under the surface just waiting to strike again, we thought a fresh set of eyes might discover something new. I called Mayo. In order to get into Mayo I could either have a doctor refer me or refer myself. If I referred myself there was a 6 week wait period to review my records and decide if they would 1. Make an appointment for me, 2. Ask my doctor to do some other testing, or 3. Say there was nothing they could do. If a doctor referred me, there was a 48 hour wait period to review my records and they would get back with me after that with one of the 3 responses. My PCP referred me on Wednesday afternoon and Thursday morning I got a phone call with an appointment time. Obviously they thought I was messed up enough to warrant taking a gander at.
April 10th I met with a neurologist who told us KU did a great job rheumatologically, so they were just going to have to look at it from a different perspective. They drew all kinds of blood, I had an MRI, 3 CT scans, an echocardiogram, an ultrasound, saw a neurologist, a neurosurgeon, a couple geneticists, a genetics family counselor, and a vascular Dr. – who finally took my IVC filter out.
I went to see Dr. McPhail, pronounced McFail, to find out if I could get my IVC filter out. The blood clot had dissolved on its own so that was no longer an issue. But in order to sedate me he had to do a general exam. In the process of listening to my heart he stopped, looked at me and asked if I had ever been told I had a heart murmur. I told him yes, 6 or 7 years ago I was told I had a very slight one. So slight it didn’t show up on an echocardiogram. Since then, only two nurses ever even mentioned it. It is very faint and you have to be in just the right place to hear it. He wasn’t convinced. He pulled up the echocardiogram that I had just had that morning. He was very puzzled and said I didn’t have a heart murmur, but he didn’t know what it was. He talked to several radiologists and determined to do a specialized CT scan.
As seen in the picture below, they found that in front of my heart there is a tangled mess of veins and arteries that don’t belong. For those of you that thought to the contrary, the picture proves that I have a heart. So my “heart murmur” was an AVM (arteriovenous malformation.) They found another as well just to the left of my sternum when they did the CT. With this discovery, HHT (Hereditary Hemorrhagic Telangiectasia) shot to the top of the genetic list. AVM’s are 1 marker, severe bloody noses are another. All my life I have bled for no reason. I can sit over a trash can and bleed for any length of time. Its great fun! I had it cauterized once, but it didn’t work, and HHT would explain why – the lining isn’t the issue.
When veins and arteries form in your body, capillaries form in between the two. Among other things they diffuse the high pressure of the arteries and allow the blood to flow into the low pressure veins. But when an AVM forms, there are no capillaries. Consequently the junction between the two is very fragile. Over time they have a tendency to stretch and break. Someone with HHT will have AVM’s in their head (hence bleeding on the brain), lungs, liver, and gastrointestinal system. I had the gold star test, the angiogram’s, to look for an AVM in my head, but they weren’t looking for one, they were looking for an aneurism.
At this point I know I have 2 of the 4 markers for HHT. The third marker is a family history or a genetic test. No one in my family has been diagnosed with it previously and the test is somewhat expensive ($5000). Additionally it is not 100% accurate. You are “diagnosed” with the disorder if you have 3 out of the 4 markers. So, regardless of the outcome with the insurance company or the test, they will treat me as if I have it and watch for signs of Ehler’s Danlos and Birt Hogg Dube – but those are another story entirely.
There is no cure per se. AVM’s are treated if they are causing a problem or are at risk for causing a serious problem. The outlook from here is to search my body for AVM’s, measure junctions, and watch what they do. I have no restrictions and am to live life as normal.
As a side note, they found that there is something wrong between my hip and my pelvis and the recommended that I see an orthopedic doctor. But ever since the filter was removed the hip pain ceased.