Wasn't This An Episode of Golden Girls?

Ze German was right about my neuroimmuno issues and he did me a huge solid by referring me to the reproductive endocrinologist. Not only did the RE identify my tremors but he also discovered that for whatever reason my body is not producing nearly enough estrogen or testosterone. So, at the ripe age of 26, I am beginning hormone replacement therapy. My cycles are like clockwork, they've always been extremely regular with the exception of last October. That month I had four different episodes of bleeding, almost like short periods. Four in one month! I half-hoped I was pregnant and experiencing implantation bleeding. Ha! Fat chance. I went to see my gyno, was told to wait it out and see if they returned to normal, and they did. Despite my seemingly-regular cycles, I'm being told that I could have pre-Menopause. Did I mention that I'm 26?!

I've learned to find the bright side of my health problems, and this case is no different. Turns out that having wonky hormones can wreak havoc with your metabolism, and low estrogen and low testosterone can make it almost impossible to lose weight. Your body starts wasting muscle and storing fat, and you turn into a fat old dried-up blob. I've been eating sensibly (maybe even taking my healthy eating overboard) and have been unable to lose weight. For a former Eating Disorder patient, that's very very disappointing and makes it very very tempting to fall back into self-destructive behavior, even when I know (in the part of my brain that still works) that bulimia doesn't really result in fat loss. So I'm hoping that balancing my hormones and getting my estrogen and testosterone back to where they should be will result in the loss of some major poundage. I lost about 20 pounds over the course of my bulimia. Once in recovery, I gained most of it back (duh, it was almost all due to dehydration). Then I was put on Adderall, lost 50 pounds in about 8 months because I was eating nothing but amphetamines and Power Bars, washed down with coffee. When I chose to stop the Adderall treatment in order to be evaluated for my worsening neurological problems (assuming that being off all meds would make it easier for doctors to correctly diagnose me), I gained about 40 of that back. Probably because I was eating over 500 calories a day, and because my fatigue was (and still is) almost impossible to overcome. Now that my heart problems are being addressed and monitored, I have been cleared by my cardiologist to go back on Adderall. Ze German gave me a prescription, though I'm now taking it for fatigue since it's clear I don't have ADD. So the silver lining on this ovary-shaped storm cloud is that the combination of Adderall and HRT should mean that I'll finally see some results from my new lifestyle! And I see an orthopedist tomorrow to have ankle braces made so that I can continue the jogging program I started. I may have a malfunctioning brain, but I shall have a hot ass!

The Professional Patient

I haven't been around for a while. I can't remember everything that's happened, so I'll pick up like I never left. I saw a few new doctors since last post, I know that. The psychologist that I was sent to as part of my disability claim told me that there's more in-depth testing they can do to determine exactly what kind of memory loss a person has, so I called up my old psychiatrist to inquire about getting such tests... turns out, my old psychiatrist is gone. No big loss, he looked like Bobby Flay and he could never remember anything about me. He also gave me Adderall for a misdiagnosed case of ADHD when I was trying to get help for Bulimia, so he probably wasn't at the top of his game anyway. He's been replaced by a German guy with a very impressive pedigree. I was excited to see him. His education and his background made him seem like the answer to my prayers. My goal has always been to get the correct answer, even if it's a shitty answer.

I wasn't wrong about him. He was lovely, caring, and rode the fine line between comfort and bullshit quite nicely. He thinks I have something neuro-immuno going on... I was (and for the most part still am) unsure of what that means exactly, but it seems to be a different kind of classification for some neurodegenerative diseases. It felt good to hear someone else say that I've been failed by the majority of my doctors. He wasn't rude about it, but he acknowledged that doctors aren't perfect and my case isn't an easy one. The bright side? In Germany, he says, I would be a professional patient... I would be paid to visit doctors and be studied. So I guess when all my other options are exhausted, I can move across the pond. I do like sauerkraut :)

Anyway, he sent me to see a friend of his, an endocrinologist, because he believes that he's the best at deciphering endocrine levels and relating them to neurological conditions. I went, I gave blood, I was examined by the endocrinologist and his resident. For most of the appointment, we discussed how certain hormone levels could be causing my neuro-cardiogenic symptoms to flare and maybe that was being mistaken for a separate neurological problem. But then I explained my tremors. My loss of control in my hands. My medical leave from school because I can't hold my knife. How it sometimes appears that I'm throwing something, when it's really involuntary movement. And I showed him my tremors, because they're present 100% of the time, even when my hands are not in use. He looked at my hands, looked at me, and said "That looks like intention tremors... that... is neurodegenerative." He asked the resident if he agreed, and indeed he did. The tone turned somber, and we ended the exam. I don't have the results of the blood work that they did yet, but I'm not hopeful that it will show anything. Being hopeful after an appointment is a luxury I no longer have.

The German doctor also sent me to have more memory testing. I bombed something called incidental memory. I was excited to learn that there was maybe a new piece of the puzzle to put into place, but also disappointed when I learned that it involves a part of the brain I haven't really previously considered suspect. I've pretty much convinced myself that all of my problems are related to my brain stem or cerebellum. This particular kind of memory involves the temporal lobe. In the grand scheme of things, I know it doesn't matter... neurodegenerative is neurodegenerative, no matter where in the brain it originates. At the same time, I guess I stupidly thought that if all the problems (even ones involving irreparable damage) were confined to one area, then maybe there was a way to spot-treat or prevent worsening of symptoms. It was stupid wishful thinking without any scientific basis at all. The doctor that did the memory testing said that he'll forward the results to the German, because he certainly doesn't know what to do with me. He agrees that my issues are caused by a medical problem, not a psychiatric problem at all. He did ask me about depression and anxiety. I explained that I'm not depressed at all, though I'm anxious about my medical problems. I also explained that my personality has changed because I've adapted my behavior to live with my medical problems. My memory sucks and my aphasia is so bad that I avoid any situation where I'll have to act "off the cuff", so to speak... because I'm unpredictable at best and embarrassing at worst. I never know what word will come out, and I'm constantly afraid that my cognitive dysfunction will put me in a dangerous or uncomfortable situation. I imagine he's going to pass all of that info along to the German as well. I don't mind, because I've probably already told him myself, but I don't want to have unnecessary pills forced on me. I'd rather they just find a solution to the whole problem before they give me something with a whole booklet of side effects. Every doctor I see is amazed that I'm only on two prescription pills (not counting Vitamin D). I'm holding off as long as I can, but eventually I'll give in and take whatever they give me. The worse I get, the more detached I'm going to feel, and then I'll want the meds as a buffer between my mind and whatever part of my brain is still functioning at that point.

That's all of my update for now. I go back to see the German on the 21st. Sorry this wasn't more cheerful.

The Fax Ate My Referral

Ah, the mysteries of the disappearing faxes... two of my doctors say they faxed referrals and medical information to the new doctor on September 10, yet new doctor says they have not received any of it, so I can not make an appointment yet. No worries. I'm not in a hurry or anything. I'm not deteriorating or anything. My brain is totally fine. My hands shake because I guess I'm so goddamned excited all the time.

Still taking me Atenelol at night, but it hasn't stopped the hypnagogic hallucinations entirely. Woke Ben up the other night to tell him that the bugs were on him, the bugs that only I can see of course. He knows they're not there, but he has to watch me get up, turn the lights on, and examine the bed anyway. If this were the 60s, before EDS was named and its comorbidities identified (Chiari, POTS, MVP), I would have been sent away to be locked up in one of those horrible old-school asylums you see in movies. Might not be so bad... they probably have excellent pills :)

On a somewhat unrelated note...

I have a wonderfully colorful friend, a really talented guy with an enigmatic sense of humor and a relatively beautiful spirit, and he's sick too. I won't go into details since they're not mine to share, but being sick is a lot easier when you have someone to talk to... I know that misery loves company, but so does stubborn hope.

One Step Forward, Two Steps Back

I started taking my Atenelol with my Zanaflex right before bedtime, and controlling my heart rate during sleep seems to help with the hypnagogic hallucinations. But there's one odd symptom that's driving me crazy...

The feeling of ice water, spreading down my back. This happens when I'm laying in bed, but it's not a hallucination. I'm awake when I feel it. I jump up out of bed to check my sheets and comforters. Once I even yelled at my husband because I assumed his ice pack was leaking onto my side of the bed. There was nothing there. There never is. So why am I feeling ice water down my back and on my left hip? I'm tired of getting the weird-ass rare symptoms of everything. I've never heard of anyone else having this problem. I miss normal sleep :(

Out with the Old, In with the New

I've decided I'm going to try one last local neurologist before I consider the Rochester Mayo Clinic. He's highly recommended by a few people I know, and he may be able to make sense of my tremors/memory loss/migraines/aphasia even without a vast amount of knowledge about Ehlers-Danlos Syndrome. Calling to get records faxed to a new doctor (especially when the old doctor and new doctor are within the same specialty) is like pulling teeth. The staff acts offended that I no longer want to see their delicate genius who refuses to re-evaluate his Chiari Theory (see earlier post). Your doctor told me that he needed proof that patients with heritable connective tissue disorders benefit from upright imaging. Since I can't make him go back to medical school and relearn the anatomy and physiology of the brain, I'm going to see a new neurologist. It's that simple. I'd like to regain the full use of my hands, and prevent further memory loss. I'd like to be able to speak without confusing words. I'd like to be able to sit-up/stand without having my neck cocked to the side because I'm a human bobblehead. I'd like to hold my head up without immense pain and nausea. If you don't want to help me accomplish that, I'll find a new doctor to take my insurance money. Simple as that.

Baby Fever

I suppose I shocked a lot of my family when I did things in the appropriate order. I graduated high school. I met a guy, fell in love. Got married (even if I did do it in Vegas, mostly because the very thought of having to buy and wear a wedding dress made me nauseous). I made it to age 21 without ever having a baby out of wedlock! Considering I was a bit of a wild child with a family history of young motherdom, I guess I can understand everyone's surprise. We were married in 2008. We were both working full-time, and we were both still in school (he was pursuing his MBA). It just wasn't the right time for a family.

I didn't know how sick I was at the time. I guess I assumed that eventually my doctors would find a medication that would alleviate my migraines and muscle control problems. I wasn't too worried about it. Of course, I got worse, and in November of 2010 I had to quit my job that I loved because I had to dedicate business hours to doctor's appointments. My health has pretty much been on a rapid decline since. Now I realize that there may never be a "right time" to have a baby. My geneticist, Dr. Descartes, assured me that I can have a healthy pregnancy. I have no family history that suggests I have the Vascular form of EDS (for those patients, pregnancy is usually discouraged by medical professionals because it can be super dangerous), so I shouldn't have an increased risk of any fatal complications to me or the baby. I cried when Dr. Descartes told me that there's a 50% my child will inherit my genetic mutation and develop EDS. She explained to me that there are things that can go wrong and disorders that can materialize in babies born to perfectly healthy mothers, and that genetic mutations can sometimes happen sporadically with no family history or affected parent. She also joked, in a lighthearted manner, that there are plenty of people walking around with terrible personalities that shouldn't have kids, but they do. Children were still an option for me, even as an EDS patient.

In a way, I was relieved. My husband has a problem with his pituitary gland, so I have to give him weekly testosterone shots for his body to function normally. His endocrinologist has always told him that he'd refer us to a wonderful reproductive endocrinologist when we decided that it was time to have a baby. When my husband mentioned to him during an appointment that I might have Ehlers-Danlos Syndrome, he changed his tune. He said we absolutely could not have a baby until I was diagnosed. In fact, he discouraged unprotected sex until diagnosis just on the offchance that we might miraculously conceive without the help of the reproductive endocrinologist. I guess he was concerned about the possibility of Vascular EDS, for valid reasons.So I was happy when Dr. Descartes explained that my family history doesn't indicate that I have VEDS, that she believes I have the Hypermobility form with a good mix of Classic EDS symptoms. This means that the reproductive endocrinologist will still work with us, when we're ready.

Ideally, I'd love to wait until my health gets better to have a baby. Unfortunately I don't see that happening anytime soon. I'm not having much luck with doctors or treatment. My memory loss and aphasia are progressing. The tremors in my hands are worsening. This may be as good as it gets for me. And my husband's age worries me. He's 35, and I don't know what kind of fertility methods/treatments we'll have to try because of his testosterone problem or how long we'll have to wait for them to work. If I were healthy, I wouldn't have to worry about this. Even if the fertility treatments took years, I'd be fine. But in a few years, or two, or even one, I may be much worse off. I know there are people out there who probably think I shouldn't try to have children at all, either because I could pass my EDS on to them or because my health may deteriorate to a point where I can't give them the level of care that I should. I do struggle with the idea of having a biological baby knowing I have a genetic mutation. It's a personal choice that every person with EDS has to make for themselves. As for not being able to give any future children the care that they need, well... let's just say that I see plenty of fat, lazy, negligent mothers in Wal-Mart and they somehow manage to keep their hordes of children alive :) It wouldn't be easy, but it's more than possible. I'm lucky because I don't seem to have a problem with dislocation, so I don't think my mobility will ever be an issue. In my case, it's mostly a "fear of the unknown" situation. I've racked up a number of diagnoses, and my doctors still think there are other issues that we haven't figured out yet. Down the road, I may very well be diagnosed with MS. Anything could happen.

Anyway, it's not easy to be a 25 year old woman whose biological clock seems to be ticking at a faster pace because of a progressive chronic illness. To make matters worse, my younger sister had her first baby (my beautiful niece) at the beginning of August. Seeing the birth and spending time with her afterwards made my heart ache. And, of course, it spurned a new family discussion of "When are you and Ben going to have a baby?" New babies in my family happen every few months, and you'd think they'd be too distracted by the plethora of children birthed by my cousins to notice my empty womb, but no. They notice and they inquire. My family is aware that I have medical problems, and I've told them the diagnoses a few times, but they don't quit understand how serious and often debilitating those medical problems can be. In my family (Irish and mostly-Catholic), married women are generally on a regularly-scheduled program of baby-making. It's unusual to be married for four years without at least one kid. My uterus is obviously behind. I love them and I know they mean well, so I just change the subject. The constant barrage of pregnancies and new babies on Facebook is harder to ignore. I can't begrudge everyone else a new baby just because I have healthy/fertility issues but jeez... the people on my friend's list must have sex constantly. Never before has such a fertile group of people been assembled. I've joked that being my Facebook friend must be an aphrodisiac, because there's a new pregnancy announcement every week, a new notification that so-and-so is x amount of weeks along with their boy/girl. Honestly? It sucks. It makes me sad. It makes me a little bitter, mostly towards myself.

I want a baby. Badly.

THAT Syndrome...

Lady called me back from the new Rheumatologist's office, informed me that he doesn't see patients with that syndrome.

Individual Case Management agent called me back from BCBS of AL, there's no way for them to help me (a) find a doctor that specializes in EDS in my state or (b) get around the restriction that requires a doctor to order/precert all imaging.

Just another Wednesday in the life of a chronically ill person :)

In other news, a very nice young girl that I met a few times was killed on her way to her classes for nursing school yesterday morning. As a sick person, I'm very honest with myself about my own mortality but I try not to think too much about the mortality of others. The truth is that our lives are in the hands of others at almost any given moment of every day. And while that can be a very depressing thought, it's almost kind of a relief. There's nothing you can do to stop death, and stressing about it gets you nowhere. Be a good person, help others, make the best choices that you can. That's all any of us can do.