1 in 150,000

It has been a crazy week full of two trips to the ER....my head doing it's best to impersonate Hitch...full body urticaria...abdominal pain...worries...wondering...two more trips to a family doc...lots of blood test...lab work...questions...more questions...

Initially they thought it was an allergic reaction to something...but now Dr. Wood seems to think it's something a bit more serious. HAE C1 inhibitor protein deficiency... it's a super rare genetic disease (1 in 150,000), very interesting...

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1804208/

After some prying into a side of the family I don't have much contact with, I found out my cousin has been diagnosed with the same thing. Certain things trigger an attack; things like stress (nursing school and work), high estrogen levels (birth control and pregnancy), alcohol (Thanks Barlow! : P ) , trauma, infection, surgery, etc... His triggers were drinking and stress. Since he has gotten those under control he hasn't had an attack in a few years. Which is great news.

So I have quit taking my birth control which is probably a good thing anyway. (Added hormones to your body can never be much of a good thing--> cancer) Can't get pregnant without risking an attack and my airway closing off... Looks as though I will be adding vasectomy to the boyfriend criteria list. : )

Good news! I found out today at the doctor's office that the C1 infusion treatment I thought they only had in Europe and Argentina is now here in the United States. And if I were to have an acute attack with airway closure, they would hopefully have some on hand to give me. It's not that common so it just depends where I am...but at least a trach or death isn't imminent. The other good news is that I know about it and I can avoid doing things that trigger it.

The doctor did freak me out by saying it's NOT a good thing to have...the treatments are expensive..($100,000 a year depending on the severity) and it sucks..that within 15 minutes my airway could swell up and epi doesn't work...trach and breathing support do...or shitty testosterone pills for prophylaxis that kills your liver and make you grow hair in places it doesn't belong (no way! not taking!) ...and he is making me stay with my parents until we know I am in the clear...grrr....and I have definitely had my moments of being sad, worried, emotional, angry... but I think it could always be worse. At least I don't have AIDS or some other crazy disease. My quality of life can still be what it was before...and knowing that you may not have forever to live will force me to live my life to the fullest everyday...because there is no time to get sucked into the dark abyss or feel sorry for yourself...and not appreciate the beauty of life...not even just for me but for everyone. Tomorrow is not a guarantee!!!

No more drinking...oh how I love a good beer though...no more freaking out about getting straight A's in school, no more freaking out period, no more stress, simplify, focus on staying healthy, yoga, keep my body in balance and in the best shape possible.... There are always good things that come from something bad, even if you can't see it right away. Hard things force change and growth.

Things like traveling to crazy foreign countries to deliver vaccines and give medical help will have another layer of concern...but I am still going to go...because anything could happen really, at any time. I can't live my life in fear and not follow my dreams and my heart.

The important thing is to not take anyone or anything for granted. Including your health...Don't sit on your butt ever. Do things. Explore the world. Find everything and everybody beautiful in the world and soak it all in. Appreciate it. Appreciate your life. Smell things and listen. Don't get sucked into the routine and become a robot. Don't live your life for other people. Live.

And appreciate your friends and family. Don't take your people for granted! I have been amazed at the love and comfort people have given me though this whole thing. People you least expect. So thank you so much!!! The littlest things have meant the most. I love you all.