This seems to be my month for medical adventures! Unfortunately, my most recent one was of a more direct and personal nature than the one recounted a few weeks ago. It seems that my gall bladder decided, without warning or consultation, that it was time to part ways. According to my surgeon, the crafty organ had been plotting against me for some time -- years, even -- but waited until 3:30 on a Saturday morning when I was sound asleep to put its evil plan into action. That's when I was awoken by an intense pain deep in my chest.
I sat up in bed and debated for a few minutes what to do. I didn't really feel like I was having a heart attack (I didn't feel like my heart or breathing was labored), but the fact that the pain radiated through to my back concerned me. Of course my husband woke up, too, and from my description, which sounded similar to something he experienced a few years ago, he thought maybe it was some kind of bad heartburn. We decided to call the nurse line, but those folks want to err on the side of caution, so I wasn't surprised when she told me she couldn't rule out some kind of "cardiac involvement" and that I should go to the ER.
So off we went. We are fortunate to live near several hospitals, but we figured we should just go to the closest, which is the county hospital downtown. That turned out to be a mistake. I walked in and even before I could say what was wrong, the triage nurse was telling me that there was a 4 1/2 hour wait. I explained that I'd just like to find out if I was having a heart attack or not, and that seemed to galvanize them a bit, but I still had to sit down at the registration desk and discuss such inanities as my name, address, and social security number (I'm still wondering why they wanted that. I was thinking of arguing about it at the time, but in my extremity, I didn't have the energy to bother), and of course, the insurance information. Meanwhile, the pain had increased to the point where I was feeling quite desperate.
Once the staff satisfied themselves that I was a real person with an identity of some kind and an insurance company they could charge, they took me straight back for an EKG. I remember it seemed like it was taking forever for them to hook up all the electrodes, but once they finally had me wired up, the test took about one second. They just turned it on and flipped it off again. I concluded I was not in immediate danger, as I was sent back to the waiting room to await further attentions, presumably once the gunshot, car accident, and other trauma victims were out of their hair. The strange thing was that the waiting room was mostly empty. There were maybe two or three other people there awaiting treatment, plus a small group of people waiting for updates on someone who was already being seen. It was almost eerily quiet. Nothing like TV, I can tell you.
I suppose at that point, we should have considered going to another hospital -- there is a another major one located only a couple of miles from where we were -- but frankly at that point, I couldn't stand the thought of getting in the car and driving somewhere else. We waited there about an hour and a half, possibly the longest hour and a half in my life. It's hard to describe the pain I was experiencing. It was not a sharp pain. It was almost more like a cramp, and because it was in my abdomen, it also made me feel sick in a way I don't think I would have felt if I was experiencing similar pain in my arm or my leg. There was no position I could sit, stand, or lie in that seemed to alleviate it. Between the pain, the man sitting in the middle of the room slumped and seemingly passed out in a wheel chair, the inane chatter of the people waiting for news of other patients, and the incessant sounds of Power Rangers re-runs emanating from the television, it was all very surreal.
At about 5:30am, the pain started to ease up a bit. I went back to the triage nurse and asked if the wait was still going to be long. She confirmed that it would probably be a couple more hours. The thought of waiting that long was, frankly, unbearable, so I decided to leave. I figured since I wasn't having a heart attack, it was probably the heart burn after all. I figured we could stop at Walgreens, get some Zantac, and probably get relief faster than I'd get it at the hospital. When I told the nurse I planned to leave, she looked at me doubtfully, but didn't try to talk me out of it, so off we went. By the time we got home around 6am, I was feeling quite a bit better, so I took some Zantac and got a couple hours of sleep.
By the time I woke up, I was feeling okay. The pain was still there, but it was more of a discomfort. I figured it had definitely been heartburn, popped some more Zantac, and headed out for a full day of activities. The "discomfort" stayed with me the rest of the weekend, though, and when it was still there on Monday morning, I thought, hmmm. I never did see a doctor, so maybe I should stop by the urgent care center before work and just make sure everything is okay. Maybe I need some kind of prescription strength medication. So I called in to work and said I'd be late, then headed over to the medical center.
As soon as I described my symptoms to the doctor, she thought it might be my gall bladder, a possibility which had never occurred to me. She ordered some blood tests and then, to my surprise, said she was sending me to the hospital for an ultrasound. I figured it was probably just a precaution and would turn out to be nothing. Less than an hour later, I was lying on a table while a radiologist gave me a strange species of abdominal massage. Of course, she wouldn't tell me anything until the doctor had a look at the images (though I did get her to confirm that all the requisite organs were, in fact, present and accounted for). So it was another half hour later that I was called from the waiting room and told that my gall bladder was basically a sack of gravel and needed to make a speedy exit.
That's how I found myself, just a couple of hours later, with an IV in my arm, sitting in front of a jocular surgeon who was asking me if I wanted him to save the stones for me. Apparently, he had a previous patient who wanted to make jewelry out of hers. I assured him I had no such plans, though I did kind of want to see the suckers and perhaps grace them with a few choice parting words. Not long afterwards, I was walked (yes walked!) to the operating room. This really surprised me, as I assumed I'd be wheeled there on some kind of gurney, or at least in a wheel chair. But nope, I followed the nurse down a hall, through the doors, and was invited to hop up on the table. I remember lying down and the arm with the IV being strapped to a sort of shelf sticking out from the table. I also remember that the table was really narrow -- barely wider than me. I suppose that makes sense, as the surgeon would want to have unimpeded access to my innards, but again something that surprised me.
Apparently, this particular procedure is frequently performed on an outpatient basis, but my surgery didn't take place until the afternoon, and I was in no shape to go home that night. I was admitted, and thus experienced the 2nd longest hour and half -- and the longest night -- of my life. This was my first time staying overnight in the hospital since I was born, and I'm here to tell you, it's just as bad as everyone says. The grogginess of the anesthesia wore off just in time for me to try to fall sleep for the night. I couldn't get comfortable, and my legs were encased by some kind of special massage leggings that are supposed to help prevent the formation of blood clots. At first they felt kind of good, but soon they got really hot. The nurse agreed to take them off for a while, but she said I had to promise to flex my ankles a lot to keep the blood flowing, so then I got all paranoid and couldn't sleep anyway, because I had to make sure I was flexing. Every time I'd finally doze off, I'd awaken, whether because a nurse or other attendant needed to do something to me or my roommate (yes, it didn't help that it wasn't a private room), or my own discomfort, feeling Iike it must have been at least a couple of hours, only to look at the clock and find that it had only been 20 or 30 minutes. I thought morning would never arrive.
Arrive it did, as it always does, along with friendly hospital volunteers who brought around newspapers and warm wash clothes (nice!) and an attendant with what passed for breakfast (not so nice!). I managed to down the jello and a few sips of tea, the first food I'd had for about 36 hours. The doctor showed up around noon with show and tell -- my gall stones in a plastic bag. Lets just say, they did not look like the makings of anything that could be used to adorn the human body. The largest one was about the size of a grape, and the rest were like a handful of sandy gravel in variously-sized conglomerations. Good riddance, as far as I'm concerned.
I was discharged that afternoon, and alas, just three days later, I was already back at work part time. The miracles of modern laparoscopic surgery mean that what used to be major abdominal surgery is reduced to four tiny incisions. As of today, two weeks and two days after surgery, they appear to be almost completely healed. I can tell that things still have a way to go internally, as I am reminded whenever I try to do something that involves much abdominal strength, but barring those exertions, I have no pain and feel pretty much normal. There are no changes in diet necessary, and though some people find there is a period of adjustment, especially when eating extremely fatty foods, I haven't noticed any problems in that regard whatsoever. I dare say my body was already used to functioning without my gall bladder, since it was so full of stones it couldn't have been doing anything useful for quite some time now.
It's a beautiful Spring day, and I feel good. As I rode my bicycle to work today, I wondered what would have happened had these events transpired a hundred years ago. According to this interesting presentation, no one really knows why people get gall stones, although common factors include being overweight or losing a lot of weight very quickly, being a women with more than two children, being over forty, being Native American, Inuit, or Northern European, or suffering from condition such as Sickle Cell Anemia or Inflammatory Bowel Disease. Besides being female, none of the above apply to me (I've got almost a whole year until I'm forty!). So I guess I'm just lucky. Life is good.
About fifteen years ago or so, we began noticing some odd things about my father. An avid skier all his adult life, his friends noticed he suddenly seemed to be having balance and coordination problems on the slopes. My mother was troubled when he seemed to lose interest in many of his favorite activities, including working on wood carving, carpentry, or electrical projects in his workshop, and even, god forbid, the computer. Running, skiing, and other active pastimes fell by the wayside. He seemed increasingly tired and lethargic, but the change was gradual. After a few years, we realized he had come to spend most of his day dozing in his favorite chair.
My mother took him to the doctor, but they couldn't identify any particular ailment. The symptoms only grew more alarming as time went on. The changes were so gradual, we wouldn't realize he was getting worse until were suddenly faced with the reality that another daily life activity had joined the list of things my father could no longer do. I remember vividly the day I realized my father could no longer drive safely. One day my mother came home from work to find my father lying in the bedroom, where he had apparently been most of the day, unable to get up. There were more doctors, but still no answers.
Even more frightening than the physical changes were the cognitive ones. The man who so enjoyed, as he put it, "shooting the bull" with friends and always had to be dragged away from parties by my mother became silent and non-communicative. The man who taught me calculus (usually when he was supposed to be helping me with my algebra, natch), could no longer do simple arithmetic. The man who tried so hard for years to convince me that learning a computer programming language should be just as fun as the other foreign languages I so loved to study no longer even entered his office, let alone tinkered with database programs that used to enthrall him so entirely, and didn't show any interest in hearing all about my excitement in discovering how fun it was to work with XML and XSLT at my new job at the YMCA Archives. There was a trip to the Mayo Clinic to see yet more doctors. They could see that there were changes in my father's brain, but still no explanation for his neurological problems.
There was a walker. Then there was a wheelchair.
My mom sold their home of 33 years, the house on Medicine Lake where I grew up, to move to a place that was wheelchair accessible.
Gradually, my dad's activities became more and more limited. He could no longer walk even a few steps unassisted, and he began to suffer from incontinence. His communication was limited to answers to direct questions (and then often only with prodding), and his behavior could only be described as childish. Travel was out of the question, and even outings to restaurants, plays, ball games, friends' homes, or other places they enjoyed became increasingly difficult. My mom struggled to get him in and out of chairs and cars. Still the doctors had no explanation. It wasn't Alzheimer's. They didn't even call it dementia. My dad, they said, simply had a degenerative neurological condition.
The wear and tear on my mother reached a breaking point, and ultimately, about a year and a half ago, she was forced to move my father to a nursing home. He was 65 years old. Since then he has continued his slow decline, speaking even less, and losing either the ability or the will to feed himself.
Meanwhile, my sister and I discovered we had both been diagnosed with another problem, equally inexplicable if less debilitating than my dad's. My doctor offered no explanation for Primary Ovarian Insufficiency (POI, also known as "Premature Ovarian Failure"), other than "it happens to some people." My own research, however, suggested there are indeed some known causes. In particular, I came across two that caught my eye:
1) POI can be caused by an autoimmune reaction. My dad has suffered from rheumatoid arthritis, which is an autoimmune disease. Could there be a connection?
2) POI can be caused by the Fragile X premutation. A cousin on my father's side has Fragile X Syndrome. Could there be a connection? And what the heck was a "premutation," anyway?
I mentioned these possibilities to my doctor, who ordered some tests. The results showed no sign of any autoimmune reactions. They also showed I didn't have Fragile X, which we were pretty certain of, anyway, as even though it affects males more significantly than females, the symptoms are usually pretty evident. The doctor didn't seem inclined to pursue it any further, but I wasn't convinced that we had fully explored or understood the possible Fragile X connection.
A couple of years went by. My regular doctor was on leave when I was due for a routine exam, so I ended up seeing a different doctor. I was given the usual medical history forms to fill out before my appointment. I checked off the usual response after the usual list of conditions like heart disease, stroke, cancer, diabetes, etc. When I got to the blank line with "other" before it, I decided to write in Rheumatoid Arthritis and Fragile X, since I wanted the new doctor to know about these pieces of my medical history, just in case they were significant. Sure enough, she latched right on to them. It seemed that the research I had been reading about had started to trickle down to the general practitioners. Whereas previously, my doctor had seemed complacent about finding a cause for my POI, now she took a muchmore aggressive approach, referring me to an endocrinologist to investigate the possibility of either an autoimmune condition or some connection with Fragile X.
The endocrinologist ordered more autoimmune tests, but they came back normal. He also did some research on Fragile X. I learned that it is caused by changes to the FMR1 gene on the X chromosome. The gene has a DNA sequence called CGG repeats. A normal FMR1 gene has up to 50 CGG repeats. An individual with over 200 repeats has Fragile X. If you have between 50 and 200 repeats, you are considered to carry the Fragile X premutation. Fathers with the Fragile X premutation can pass it on to their daughters (not to their sons, since it is on the X chromosome), and mothers who carry it can pass it on to their offspring as well. When passed from mother to child, the number of repeats can expand, potentially to the point of becoming full-blown Fragile X in their sons or daughters. Whereas the full mutation can cause mental retardation, autism, or learning disabilities, until recently, the premutation was believed to have no affect on its carriers. What researchers now know is that female carriers of the Fragile X premutation can, like my sister and I, develop POI. Although the test my doctor had done earlier showed I did not have Fragile X, it did not rule out a Fragile X premutation.
The endocrinologist also mentioned one more thing to me, almost as an afterthought. Recent research has revealed that older men who carry the Fragile X premutation can suffer from certain neurological problems.
Bingo! I started searching the Internet for research on Fragile X and neurological problems in men and there was the description of my father's problem: Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). Ironically, my father had been asked about six years ago by doctors familiar with my cousin's case to participate in a study that would check to see if he carried the Fragile X premutation. The study was being conducted in California, so my parents arranged to have a blood sample sent there. However, they never heard anything back and they never pursued it.
After I told my mother about what I had learned, she started looking at the research herself. In one of the articles, she found the email address of the doctor who had asked for the blood sample six years ago. She contacted him and got a response back almost immediately. After reading a description of my dad's symptoms, he agreed it sounded likely that the Fragile X premutation could in fact be the culprit. He had a colleague check back through the records to see if they still had the results of my dad's test. They did. And guess what? My dad has
95 CGG repeats.
So now we know. My dad almost certainly has FXTAS. There is a name for his problem. A known cause. There is no treatment, but although my father probably won't benefit, there may soon be one. The doctor who conducted that study just received a grant of almost $22 million to develop one.
And now I wonder: Whereas Fragile X affects only 1 in 6000 males and 1 in 4000 females, about 1 in 259 women and 1 in 800 men carry the Fragile X premutation. That's a lot of people. How many of these men have been (mis)diagnosed with Alzheimers, Parkinsons, or some other non-specific dementia?