Sunday, August 15, 2010

diagnoses(es es essss)

I know a lot of my new spoonie friends on twitter have been curious about my diagnoses(es es es lol) and I haven't talked about it before, one component is because what I have is rare, that if you know me through other modes of social networking that you will be able to figure out who I am and I really value my privacy and safety of being anon on this blog. I don't mind so much that people know who I am but that this link could get into the hands of my family or people that I don't necessarily want to read or can't handle my honesty. So if this post helps you unravel the mystery of my identity, feel free to tell me but keep it to yourself otherwise. :) thanks! I know I'm weird about this but I want to be able to write what I want to without people I care about getting mad at me for being honest.
here goes! Welcome to the wonderful wacky unregulated world of ME!

Ok first of all I was born a medical zebra, my parents and docs didn't figure out my stripes until I was around 4. I was born with a brain birth defect that is very rare. Basically in utero things got a little sketchy when my brain was developing and some things didn't develop and somethings developed in the wrong spot! oops! It's called Septo Optic Dysplasia (sometimes known as Optic nerve hypoplasia or De Morsier's syndrome depending on where you live, just to make things a bit more confusing eh? lol) and basically it affected 3 things in the development of my brain.

1) my right optic nerve is severed and growing through my pituitary (see 3) which means I am blind in my right eye. That eye turns inward (called strabismis) and I had it corrected when I was 4 and now that it's turning in again I get botox injections in my eyeball 4x a year as opposed to major surgery. It's a vain thing but I'm a girl and it makes me feel better about myself and my appearance.
2) my septum pelucidum (the midline of your brain in lamens terms) has a hole in it, they aren't quite sure what the SP does exactly but it helps the right and left brain talk to each other and is probably why I was diagnosed with High Functioning Autism (now I'm being told they don't call it that anymore, it's Asperger's syndrome) and I have learning disabilities (mild dyslexia and moderate dyscalculia) which means sometimes letters are backwards for me, if I get really tired I read books upside down!! it's a fun parlour trick and I love to read!! I am super bad at basic maths, I am thankful for calculators which I use often, for some reason I love triganomitry (sp?) and other maths that are more complex.
3) my pituitary (which is in the base of your brain encased in bone because it's the master gland of all your hormones and glands) doesn't work because of the silly optic nerve running through it. So I have to replace all my hormones synthetically, which is not only expensive but annoying too! All my glands work but they don't recieve signals from my pituitary to turn off and on.

things I have to replace because my pit doesn't work:
-->I've replaced my growth hormone (made by the pit) since I was 4 by injection and I still take it today as it is important for many more functions (muscle mass, blood lipid balance, psychological wellbeing, mental acuteness, cognitive function etc etc) than just linear growth. When I first started taking GH it was from the pituitaries of cadavers before the biosynthetic was made available, so technically I am an organ recipient and therefore can't give blood.
Lack of GH also causes low muscle tone so sometimes it looks as if my head is on sideways because my head gets too heavy for my neck! lol
--> I have Addison's disease because my pit doesn't produce ACTH (adrenocorticotropic hormone) so my adrenals don't work. I take steroids (prednisone or cortisone) 3 times a day to mimic what my adrenals would put out on their own. When I get sick I have to double or triple my dose because that is what your body would do on its own. You need corticosteroids to regulate your blood pressure and bloodsugars. If I get sick, I get sick very quickly and severely, even with just a common cold. I have injectable meds to get me to the hospital if I can't keep my meds down. I'm generally hospitalized for IV fluids and steroids if I am vomiting, so I avoid barfing at all costs!!
--> I have hypothyroidism because my pit doesn't produce TSH (Thyroid Stimulating Hormone) your thyroid regulates your metabolism and when my med levels are off makes me fatigued, makes my skin dry and my hair fall out.
--> I don't make any female hormones (FSH- Follicle stim hormone and LH Leutinising Hormone) so I take meds for that too, I also take these meds because my bones are crap from longterm steroid use and you need them to properly absorb calcium and vitamin D

My hypothalamus doesn't work very well most of the time either, it's kindof weird, sometimes it works, sometimes not so much!
-->I get easily cold or hot and can't regulate my body temp, but I don't sweat so I often can potentially overheat if I am not careful, sometimes I run fevers that are aweful because I essentially have to have an icebath to cool myself down.
-->I go for stretches of time where I am not hungry or I am ravenously hungry. I have no thirst receptor, so I have to make sure I drink enough fluids.
--> I can go for days without sleeping, it's horrible but I just can't sleep but now thanks to my awesome new doc I am on twice the maximum dose of sleepmeds which actually makes me sleep and I can get up and function, though not too early in the morning! If I know I have to get up early I go to bed and take my meds early or I just skip a night. I really do feel better now that I'm getting sleep at night.

SEIZURES- I don't have grandmal seizures anymore (praise God) and haven't had one in 15 years. I do have petitmal and absence seizures but they aren't a big deal at all. Flashing light will trigger a seizure or chain of seizures for me. I also have myoclonic jerks or sleepstarts where I almost get to sleep and my whole body tenses up like I've just been startled really badly. Can you say TRES annoying!

HEIGHT- I am a little person, I'm under 4'10" and love being little. I think it's easier for a girl to be an LP than a guy to be one.

AUTISM- I was diagnosed with High Functioning Autism which is now generally called Asperger's Syndrome. I have a hard time with certain textures both in clothes and in food which can easily be avoided. I don't like loud noises and will often wear earplugs to the movies because the volume is too high. I don't have many of the social issues my other friends with AS have, I think that I've just learned tips and tricks and cope. I rarely will look people in the eye but generally you can't tell because I pretend to! hee hee fooled you! I looked at your nose or forehead instead! :)

ALOPECIA - No one knows why but I have something called cyclical alopecia where my hair falls out (worse than when my thyroid meds are too low) and I get bald spots. Normally because of this I keep my hair fairly short because I never know when it's gonna happen and pulling out handfuls of your hair is disconcerting , to say the least! but I'm in a good patch! My hair is super long for me because my brother asked me to grow it for his wedding last year and so I did. I had a really bad case of my hair falling out just before the wedding and I was so upset!! My brother then said the sweetest thing "I don't care if you come bald! as long as your there!" but the hairdressers did a great job and you couldn't even tell I had 2 bald spots about the size of a twoonie!

As if all that fun-ness and chronic awesomeness wasn't enough, I have chronic pain issues. when I was younger the docs just said it was growing pains, when I stopped growing and still had them they called it Idiopathic Chronic Pain Syndrome. Now I believe that it was juvenile fibromyalgia all along. I would just have pain a few times a week, it would start with a sharp pain in my ankle and then it would move to my ankle and knee and then til my whole leg was affected. Advil sometimes helped, so did rubbing my legs together like a cricket or having a scalding bath.

3 years ago I broke my hand very badly and that started a domino affect of chronic pain which is where I'm at today. So far I've been diagnosed with 3 chronic pain issues:
--> Trigeminal Neuralgia which is a pinched nerve in the side of my face, for most people it presents as sharp debilitating pain, but since most of my body is atypical mine only presents that way occaisionally, mostly it comes in the form of feeling like a fish hook has been implanted on the left side of my brain and someone is yanking it up every so often, I get very dizzy and have been known to fall over, which is generally bad for people with osteoperosis! lol
--> Neuropathy which is nerve pain, mostly it feels like my feet are being dipped in boiling hot battery acid, sounds fun eh?
--> and last but not least fibromyalgia which is the biggest bugger of all, what they think happens is people with fibro, after and infection/illness or injury (such as my case) that the persons pain receptors in their brain go haywire and end up telling the person they are in pain constantly when they are physically not. SO I am on a combo of Antidepressants to try to stop this pain but they aren't working yet, not found the right cocktail.

It's very hard to get a diagnosis for anything when you have a rare illness/pituitary problems because docs will try to automatically lump your symptoms into what diagnoseses that you already have, but the blessing in having panhypopitarism (the fancy word for a useless pituitary) is that you get to know your body VERY intimately and you know when something is wrong. I can often tell if my med levels are off, just by how I'm feeling, whether my hair is faling out, if I'm fatigued etc etc.

So there you have it! The blessing in this is I believe chronic illness has made me a more persistant, compassionate, caring person and some of the friends I've made because of chronic illness are some of the nicest, most generous, couragous blessings I've ever met.
Thank you God!

Soli Deo Gloria
REformed anon girl

1 comment:

carla said...

I also have onh and probably about 95% of the same medical problems you have most of them I am not treated for. I am completely blind in my right eye as well and have less then 10% vision in my left. The reason I haven't been treated for most of my medical issues is b/c they didn't figure out I had onh until I was in my late 20's this is b/c the dr's sliced my right eye with forceps while being delivered so the dr's just figured that was all there was to it. I get terrible headaches and it wasn't until I was in my late 20's that dr's started taking my headaches seriously and thats when they found out I have bilaterial ONH. I can't even begin to count how many dr's I went to thru out my life. Always wanting to give me MRI's with my headaches so bad I must of had a brain tumor right? Wrong! dumb dumb dr's. It doesn't help that I am from an extremly small town so my family just sent me to the dr there and he just treated my headaches. Anyway I am also small 5 foot even. I read holding my book sideways and my head is always at a tilt b/c I can't focus. I can't even begin to tell you all the health problems I have I would be here for hours, even if I wanted to my eye couldn't take the strain. you are the only other person that I've heard talk about it in such a way that I can completly relate. Like if I'm not on pain meds for the eye pain and neck pain my head feels exactly as you described my head being to heavy for my neck to hold up. Its really hard to explain to people how bad you feel b/c noone in my family or my husbands family knows much about onh so they can't understand why I am always hurting. Most of them think I am just a hypercondriac, This is an extremly difflecult disease to live with. I want to thank you for your blog b/c sometimes I feel like NO ONE understands.