Rare Disease Day 2015

Today is International Rare Disease Day, and I'd like to take a minute to share some information about the rare diseases I have, Cushing's Disease, Adult Growth Hormone Deficiency, and Hypoaldosteronism.

All three of these diseases are often misdiagnosed as Chronic Fatigue Syndrome, Fibromyalgia, "Adrenal Fatigue", etc...or doctors fail to see that the problems caused are symptoms of disease, not individual, unrelated diseases in and of themselves. For instance: obesity, depression, anxiety, high blood pressure, diabetes, etc.

I'll post some basic symptoms for each condition (not everyone has each symptom), with a link to further information if anything rings true for you or someone you know. And, feel free to have them contact me. Finding information, support, and doctors who know how to test, diagnose, and treat rare conditions can be the hardest part of this battle. While none of these currently have a lasting cure, all can be treated with drastic improvements in quality of life.

Cushing's Disease

Central obesity with thin arms and legs
Round, red, full face (moon face)
Slow growth rate in children
Acne or skin infections
Stretch marks (especially if 1/2 inch or more wide), called striae, on the skin of the abdomen, thighs, and breasts
Thin skin with easy bruising, most commonly on the arms and hands
Buffalo hump (at the back of the neck)
Bone pain or tenderness
Collection of fat between the shoulders (buffalo hump)
Thinning of the bones, which leads to rib and spine fractures
Weak muscles
Excess hair growth on the face, neck, chest, abdomen, and thighs
Menstrual cycle that becomes irregular or stops
Decreased or no desire for sex
Impotence
Mental changes, such as depression, anxiety, or changes in behavior
Difficulty sleeping at night
Fatigue
Headache
Increased thirst and urination
May present with cyclic/episodic "low" episodes of cortisol that can lead to Adrenal Crisis (shock, hypoglycemia, seizure, coma and death)

http://www.nlm.nih.gov/medlineplus/ency/article/000348.htm

Adult Growth Hormone Deficiency

Changes in memory, processing speed and attention
Lack of well-being
Depression
Anxiety
Social isolation
Fatigue
Lack of strength
Fibromyalgia syndrome
Neuromuscular dysfunction
Central adiposity
Decreased muscle mass
Decreased bone density
Impaired cardiac function
Decreased insulin sensitivity
Accelerated atherogenesis with increased carotid intima–media thickness
Increased low-density lipoprotein
Prothrombotic state
Decreased sweating and thermoregulation

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3183535/#sec1-1title

Hypoaldosteronism

High or erratic pulse/palpitations
Low blood pressure
Piercing headache
Dehydration, thirsty
Cold hands and/or feet (possible numbness or tingling)
Shaky hands
Muscle spasms or cramps
Low sodium
Difficulty tasting salt at normal levels, salt craving
Dizziness (especially upon standing)
Weepiness, despair
Fatigue, sleepiness, needing naps
Increased Urination (especially after lying down an hour or two)
High potassium
High renin
Nausea, anorexia
Can lead to adrenal crisis (shock, hyponatremia and hyperkalemia, seizure, coma and death)

http://www.uptodate.com/contents/etiology-diagnosis-and-treatment-of-hypoaldosteronism-type-4-rta (see tabs on left)

Shannon and the National Organization for Rare Disorders (NORD)

My friend Shannon had surgery to treat Cushing's Disease shortly after I did (about a year ago now!).  That is also about the time we "met" online, and we quickly became good friends.  We were able to meet in November for the first time "in real life" and it was like we'd known each other for years.

Shannon has been chosen as a patient partner for Genzyme's Boston Marathon fundraising efforts to support NORD - the National Organization for Rare Disorders.  Nord provides funding to help patients with rare diseases travel to see specialists and get the testing needed to finally be diagnosed (and thus, get to treatment).  When I couldn't get hope locally, it was NORD that paid for my trip to see my Endocrinologist in Los Angeles ("The Wizard" Shannon speaks of), do the months of serial testing for my cyclic disease, .

Shannon used to run Marathons before being struck by this "most morbid of diseases" so it makes this even more bitter-sweet for her, I'm sure.  Her blog post, in her own words (link found here):

Getting diagnosed with Cushing’s is a marathon, not a sprint
by Shannon Seitz
As a former marathoner myself, I see so many parallels between the marathon and getting diagnosed with a rare disease (Cushing’s in particular). Crossing the finish line of the marathon is such a mix of pain, exhaustion and relief. As strange as it sounds, so was getting diagnosed with Cushing’s disease: a big pile of pain, exhaustion and RELIEF.
Before getting sick with Cushing’s, I believed that getting a strange and scary disease went something like this: a purple horn starts growing out of your forehead, so you go see your doctor. Your doctor recognizes the purple horn and immediately runs the standard test for purple horns. The test has a reference range of normal values between 0 and 10 and your test comes back at 1000! Whoa! Immediately, you are diagnosed with Purple Horn Disease and you get shuttled off to a specialist, who quickly hands you a comprehensive treatment plan. Quick and painful, much like a sprint.
Now I know better. I was planning for the wrong race and I was woefully unprepared for what was coming.
Here is what the race actually looks like.
Mile 1. You start getting some vague and annoying symptoms that you (and your doctors) chalk up to hitting your 40s. You start to gain a little weight in your midsection and start getting acne again for the first time since your teens. You also start to get depressed and have trouble sleeping.
Mile 5. Over time, you stop sleeping altogether many nights. Your doctor puts you on an anti-depressant and tells you to exercise more as it will help you sleep and will get rid of the extra weight which is partly what is making you depressed! But the thing is, you can’t seem to run very well anymore. What used to be a warmup run for you now is impossible. Every run is hard and the harder you try to run, the slower you get. Which is depressing!
Mile 10. You have begun a slow downward spiral of having a harder time exercising, gaining weight, and not sleeping. And despite your best efforts to cut more and more calories, to take all sorts of sleeping aids so you can get even a few hours of solid sleep, and forcing yourself to run even when you are walking more than running…you keep getting bigger and slower and more awake at night (and sleepy during the day). You also start avoiding people. You are gaining weight and ashamed of your appearance, you are too tired to anything but flop on the couch when you get home from work. And you have started getting very angry for no reason. Pretty much anything will throw you into a rage, even in public. And this isn’t like you at all, but avoiding people seems wise.
Mile 15. You have now been struggling over well over a year and you are starting to see as many specialists as you can, because this just can’t be a normal part of turning 40. Gaining 50% of your body weight just can’t be normal. And it just can’t be normal for a marathoner to have escalating hypertension. And it isn’t normal to have to sneak home from work to sleep during the day because you are too tired to stay awake for more than 3 hours at a time. But no one can find anything wrong with you. And most of the specialists you see don’t believe anything is wrong with you, because you don’t have a purple horn. All you have is a set of vague symptoms.
Mile 20. The second wind arrives! Finally a cardiologist that is used to working with runners sees you and says “I think you might have Cushing’s!!” And everything is so clear to you. You read the list of symptoms and you have so many of them – hypertension, rapid weight gain, totally wired at night but not during the day, depressed, a “buffalo hump” (collection of fat at the base of the neck) and so many others. You are so happy because finally you are going to get your magical tests and get sent to a specialist and get sorted out. So your cardiologist runs all the right tests…and they come back mixed. Some are slightly positive, some are negative, and the lab didn’t run some of the others correctly so those are no help at all. But you have your second wind and at least have a direction to pursue now.
Miles 22-24. This is the worst part of the race, physically and mentally. You are now sure this is what you have, Cushing’s, so you make an appointment with an endocrinologist because now that you have a diagnosis that fits and at least some tests indicating it could be Cushing’s, you figure it will just be a matter of a few more tests and you will be set to go. Five endocrinologists later, all you have is a bunch of doctors who still don’t think anything is wrong with you. You have a bunch of MRIs of your pituitary too, but the doctors and radiologists don’t even agree on whether there is actually a tumor in your head or not.
Mile 25. You are starting to give up hope. You are so close to the finish, but so far at the same time and you don’t think you are going to make it. But just in time, you manage to find a group of patients on the internet and they turn out to be your saving grace. They have run this race before. Some of them are running it for the second or third time (you want to be a “one and done” marathoner so this isn’t welcome news). And they tell you this is how the Cushing’s marathon course works for everyone. They tell you that tumors like the ones that cause Cushing’s are not always active and that fluctuating labs (and some positive and negative test results) are common. They look at your MRI and tell you that you DO have a tumor (these educated amazing patients look at more MRIs than lots of doctors). They tell you to fly across the country to see another endocrinologist. They call him the Wizard. And they tell you that if anyone can figure this out, the Wizard can.
Mile 26. The final stretch. You think it is completely crazy to listen to a bunch of sick people on the internet that you have never met and you think it is beyond crazy to fly cross-country to see a doctor with a nickname like the Wizard, but you have exhausted every other option and you are getting sicker by the day. You fly to Los Angeles to meet the Wizard. He spends an hour with you and really listens to you. He doesn’t tell you to eat less or exercise more. He doesn’t tell you that you can’t be that tired or that you couldn’t be restricting your calories and gaining that much weight. He just listens and takes notes. He then runs a battery of tests – you do a cortisol test of one type or another every single day for three weeks when you get home. And just like the patients on the internet told you, some of the tests are negative but many of them are positive too. The Wizard also orders one more MRI and very clearly sees one and maybe two tumors. And you finally get diagnosed with Cushing’s. The race is over, you are exhausted and in pain and your body is a wreck. But mainly, you are relieved that after all this you aren’t completely crazy, that this isn’t just your imagination. Something with a name – Cushing’s – was actually destroying your body.
Post-race activities. The Wizard refers you to a neurosurgeon. You fly to Texas and you have brain surgery to remove two tumors, you recover enough to get on a plane and you fly home. But the story doesn’t quite end there. You have blocked out everything the Wizard and the wonderful patients on the internet told you about recovery, including the fact that another marathon is about to start. You had to block it out – no one is foolish enough to think about the pain of the next marathon when you are just trying to survive the one you are currently running.  If you did, you would just lay down in a ditch beside the course and you would never get back up again.
But now that I am on the other side, I can tell you the first marathon is only the beginning.

Makes me cry!  True words...

Rabbit Holes: Who knew hairstyles could be depressing?

Wow, well...how to describe the experience I just had?  It started out just as a typical evening chatting with friends, that led to a discussion of hair coloring, cuts, etc.  Now, I don't consider myself very vain.  I don't wear makeup, don't generally dye my hair, put product in it, dress to impress, etc.  BUT, this seemingly innocuous conversation (and resultant google image search) went places I didn't expect.

I simply made the comment that I needed a haircut.  I have for a good number of months already, but since I rarely leave my home, would need a babysitter, and the cheapest ones are a $40 minimum here already, it just isn't on my priority list.  I mean, who is going to see it?  My husband, my kids, my mother, and my doctor.  They really don't care much about my hair, luckily.  But, I am human and I am a woman.  I don't WANT to look like a slob, I just don't have the energy and money to make up for the physical lot dealt to me through illness right now.

But, I went ahead and googled short haircuts trying to find a picture of my favorite haircut style I've had in the past (like, 13 years ago).  I found something close.  An angled bob, though I like mine at a steeper angle and much, much shorter.  I don't have enough hair on the top to cut the angle now, so this style isn't an option at the moment.

We even joked about colors...pink, purple, blue.  I'm crazy enough, I would totally do that at some point if I had a decent haircut to go with it and it didn't cost a fortune.  lol

Anyway, my friends suggested pixie cuts and I started actively looking for a hairstyle that would look good on me.  In my search, all the pictures were of actresses, singers, models, etc.  I don't look like them, so seeing a haircut on them doesn't do me much good in picking out something that would look good on me!  So, I started looking at face shapes.  I'm so overweight I assumed I'm round, but I snapped a quick picture of me, and even still I'm more of an oval shape.  So, I started looking up the kinds of haircuts that are best for that shape.

It wasn't too helpful, honestly.  I don't want a boy cut.  I have a small head on a huge body, so it just makes me look like a pinhead.  And I wouldn't mind some femininity, even if it is more edgy.  Most of the styles required a goodly quantity of hair...and many required some length.  I have neither.

Whether due to the hashimotos thyroiditis (autoimmune hypothyroidism), the Cushing's Disease, or the AGHD, I have lost a huge quantity of my hair over the years and it is not yet improving.  It is VERY thin on top. **SIDE TRACK!!!  I TOTALLY have a funny to tell on myself!  At my first appointment with my endocrinologist, we were going through my list of symptoms, and he switched to a new symptom asking "You look pretty thin on top?" and my brain simply didn't follow.  All that came to me was, "Are you kidding?  I have to special order these bras!"  Luckily I just sat there with my mouth gaping open, staring at him, as my brain thought those things in silence...and eventually caught up.  PHEW!  SIDE TRACK OVER** I'm blonde and you can see through to my scalp.  Rain doesn't hit my hair, it hits my scalp.  I can't use clips because I don't have enough hair to hold them in. I can't wear extensions or a weave because I have nothing to cover it up or "weave" it into.  This cuts out a great many styles, because I literally don't have the hair required.  (I do have an AWESOME wig, but I have heat intolerance and thus sweat and feel ill...well and extreme exhaustion too, so..)

And, I can't grow it long because it makes me look creepy, really creepy, and almost mullet-ish.  My husband would certainly draw a line there, no matter how much comedic effect it would have if I walked around with a mullet!  HA HA HA!

So, I started googling things like "haircuts for balding women", "haircuts for thin hair" (these women ALL had sufficient hair, it just wasn't thick...so not the same thing), "pixie cuts on fat women", "haircuts for fat women", etc.  Don't start mixing up google image searches of "fat and bald women haircuts" unless you're super brave.  I was shocked at the things that popped up.  Most of it was completely unrelated to my search topics, most hair related photos were STILL skinny actresses and models, and some things were horribly derogatory towards fat women.  Maybe I should have used the word "obese" or "plump" or "round", but really?  I currently have a fat body.  That is the fact of the matter.  I might generally use other language when talking to people unless I know them well, but let's get to the point with google, right?  So much for that.

About an hour into searching, I gave up.  It was getting too depressing.  It was all in fun, supposedly innocuous (or so I had thought), I was getting excited looking at ideas and thinking a new haircut could help me feel a bit more confident, feel a bit better about myself right now, have some form of expression and control, but that just isn't my reality now.  I had to stop before I let this bring me into deeper emotions that I have to be careful not to dwell on in my current state.

Is this a bit vain and silly?  Probably.  Is it minor?  Definitely.  But, it brought me right back down that rabbit hole, reminding me of what my illness has done to me, my limitations, my inability to change it at present, the "me" the world sees on the outside that is so different from who I am on the inside, my desire to express myself with little means of doing so, and it reminds me that wishing it were different isn't enough to make it so.  Don't get me wrong...Not being able to get a good haircut that makes me look and feel great is NOT the end of the world.  What makes it so hard is that it reminds me I have no control over my world, and that my world appears so vastly different from the world in which those around me appear to live.

My doctor asks me how I'm doing emotionally at every visit.  And I try to tell her.  I'm actually doing REALLY well.  I've been depressed before.  I know what that spiral feels like and this is not it.  I am somewhere between accepting of my situation and apathetic, but I AM happy, I enjoy what I can in life right now (though comparatively limited), and I have hope for my future.  But the depressive sadness still hits like a sudden downpour, I can't just "will" it not to pop up in my life, and I never seem to know what'll trigger it.  It is momentary now, but I can't seem to avoid it.  I believe it is completely normal, surely even common for people with debilitating and chronic illness, so that is why I write this...to let others know it's okay talk about it if you need to.  It's okay to admit you don't simply "move on" as if there was no life besides the one you live now.  We don't have to always hide our hurts, worries, fears, and struggles.  Acceptance and overcoming require an acknowledgement...but the trick lies in not staying in that downpour and letting it pass.

 *Medical discussion*  I am severely overweight thanks to long-term undiagnosed Cyclic Cushing's Disease.  It appears I am now in remission from that (just seeing some signs of change in the last few months), but the pituitary surgery required to remove the tumor causing the disease also left me susceptible to other issues...some of which have surfaced (partially empty sella and hypopituitarism).  I now have adult growth hormone deficiency (AGHD), which also leads to extreme exhaustion, muscle loss, bone loss, central weight gain, sleep problems, cognitive/memory issues, etc.  It's so similar, the biggest difference is that I simply don't get "high cycles" any more (there's more than that, but that is the biggest one I notice now).  We are on the path to fix that, but it takes time.  I had a couple of months of testing, and now am waiting for my insurance company to pre-approve the $1500/mo daily injections required to replace this very useful hormone I no longer can make on my own.  So, hopefully I'll see some improvements over the next few months when that is approved and I can start getting my body back into balance, but I am told to expect the recovery to be a slow process.  And there is a decent chance this won't be the only hormone my pituitary will stop being able to produce on it's own.  If that happens, I'll have to do more testing and add that hormone's replacement, then work through re-balancing it all again.  Only time and testing and symptoms will tell.  Hopefully this is it, and fixing this imbalance will make me good to go!  (And this isn't the depressing part...this is just what is; I've accepted it, I'm happy it is treatable and I have a good chance at regaining control of my body and my life!)