government specimen

NIH Launches Undiagnosed Diseases Program Clinical Researchers to Tackle the Most Puzzling Medical Cases

“A small number of patients suffer from symptoms that do not correspond to known conditions, making their care and treatment extraordinarily difficult."

"...answers to patients with mysterious conditions that have long eluded diagnosis..."

"The goal of NIH’s Undiagnosed Diseases Program is two-pronged: to improve disease management for individual patients and to advance medical knowledge in general.”

these quotes are from a press release earlier this summer, announcing NIH's plan to launch a trans-NIH initiative that will focus on the "most puzzling medical cases" referred by physicians across the nation. sounds pretty glamorous right? just think, my name could be misspelled in an 8 point font bured in footnotes of a medical journal 10 years from now. my my, i can almost taste the sweet juices of glory.

how did my 5 minutes of fame begin? what a good question, let me explain. when i was first diagnosed in 2004, it was through some anonymous doctor who i had stumbled upon via referral after referral. i was so shocked (and numb) from his findings, that my family pushed for a second (and third, and fourth, and so on) consult, which is how i wound up at NIH the first time. when the head doctor in the neuroimmunology dept. concurred with the original diagnosis of MS, the team asked if i would be willing to participate in a current clinical study on the disease progression in newly diagnosed patients. out of respect for the agency, and how quickly and seriously they took my case, i agreed to take part.

i have had many people ask me "what is NIH?"- a question that surprises me, given the agency's reputation and stature in our country's health care system and research findings. NIH stands for the "national institutes of health", located in bethesda, MD, and is the leading figure in ground breaking research and medical breathroughs. basically, it's pretty damn important, and a consult there is one of the best you will ever receive. the other part that always impresses me about NIH is the professionalism that you encounter during your dealings with the agency- the doctors and nurses are compassionate, respectful and considerate of your time, and each others (which is a shock).

i'll explain what i mean by that... part of my exam included a fresh round of MRIs. when dr. NIH1 was speaking with me after my physical exam, he kept looking at his watch and was very conscious of the time- he said (and i quote), "i don't want to hold you up for your MRI appointment- if we're late it will push them behind the rest of the day." i was shocked (and it made me respect him even more, as it showed he had empathy and shared a mutual respect for his coworkers.) also, you do not have to pay for your visit/consult- technically, you are part of their research, and you are assisting THEM in acquiring their information and fulfilling the project they are currently working for. so for a visit like the one last thursday, which included a physical, various coordination/cognitive tests, MRI scans, bloodwork, among others- the tab would have come in in the thousands. but i will never see one single bill.

my experience with NIH 4 years ago was blurry to me. i remember the endless metro rides (and the lovely orange to red line changes), the looooong walk from the station to the clinic entrance (oh god, i just remembered those steep, endless steps!), the kind nurses and comfortable MRI waiting area- but that time period is marred with some emotional trauma that had enveloped me. there was dealing with the diagnosis, going through an extremely difficult breakup, a close friendship and friendship deteriorating beyond my control- sometimes when i would arrive there, in the calm and tidy exam room, i would lay my head against the cool window glass until one of the doctors or nurses entered the room, finally letting the tears flow that i worked so desparately to keep in during all of that turmoil.

but my experience with medical care since has changed quite dramatically. normally, mom and/or dad would have demanded accompanying me to the appointment, and it was a bit of relief when i was able to talk them into me going on the trip solo. it's not that i didn't want their company, but it was unnecessary to sacrifice even more in their life than they have with me- and it is an exam that i have gone through many, many times before. not to mention that dad started his radiation that week, and was already juggling a busy schedule.

i had a few lingering concerns about the transportation though, mostly ones that centered on logistics. taking the metro from kate's apt would have required a walk to the station (that alone would have been impossible, even with a 2 hour start!!), switching trains to a different line, spending close to an hour on the metro, having to walk the 1/2 mile or so to the clinic entrance... not to mention that i had never seen this new doctor before and wasn't sure how he felt about the chronic pain and fibromyalgia correlation to MS (a constant battle or more appropriately speaking, a game of "keep away" from physician to physician).

i pondered who would be available that day who could accompany me- the short answer was no one, since my friends have jobs, careers, families. also, i wanted someone that would be able to play the "bad guy", who would defend me in front of the accusing or disbelieving doctor. the first idea that popped in my head was lori- she's a tough chick, and would have my back in an instant. plus, she has seen me at my worst before, and already knows how tired and run down i get after intensive activities. (also she won't let me get away with my "appearance facade"- as in, she'll force me to use the wheelchair escort, etc.)

so lori picked me up that thursday morning, punctual as always, with a whole BAG full of gluten free pastries from whole foods (ahhh, she knows the way to my heart!) i tore into a poppyseed muffin, but as we got closer, lori became more and more paranoid they would run my bloodwork and the poppyseed recipe would manifest itself as opiates. of course i was ravishing, and beyond caring at that point- positive drug testing or not, i was eating the rest of that muffin! thankfully, she became distracted when we arrived at the entrance and faced an intimidating security screening. as in, we had to get out of the cars while they were searching by unsmiling govt employees as we walked back and forth through metal detectors. it sounds simple i know, but i felt like i was going to be sent to abu ghraib at any second!!!

eventually lori confessed my poppyseed muffin breakfast to the nurse as the vampires were filling endless tubes with my blood. the nurse laughed at lori's paranoia and said that they were mainly checking for pregnancy since they needed a number of MRIs later that morning. (last she heard poppyseed muffins don't cause pregnancy. good to know, right?! hah.) they put me through the usual 6 hour regime of basic physical, bloodwork, MRIs, cognition, coordination skills, walking, oral history... i'm used to most of the tests except for the cognition element that was used. i have not taken those type of tests since the nueropsych exam i went through for my long term disability paperwork in VA. here's how it breaks down:

you will hear a series of numbers, with 5 seconds between each one. you are to add the first two numbers together, tell the nurse the sum, then return back to the number sequence and add the second and third numbers together, giving that sum to the nurse, and so on, and so on. for example, 5..... 3..... 2..... 6..... you would tell the nurse 8, then return and say 5 then 8, and so on. this goes on for approx. 100 seconds, and it was the longest 100 seconds of my ENTIRE LIFE. i failed that exam MISERABLY, and i'm not just saying that. lori sat in on everything (except the MRIs, as she would have caught some horrendous radiation-caused disease), including this cognition part, and the nurse offered to give her the "cheat sheet". i was relieved when she declined the offer, as i was already feeling like a complete dumbass, and i needed someone else to do horribly on the "test" as well. i wanted to scream "WHY IS EVERYONE AGAINST ME?!?!" but i thought better of having a public crazy moment. (since i'm sure NIH has a psych ward. hah!)

the physician who is heading up that dept now was a calm, compassionate, and understsanding older gentleman, so lori's battle armour wasn't even necessary! turns out he used to run a private practice with the majority of his patients having MS and/or chronic pain, so i felt right at ease as i explained some of my most recent, and most challenging, problems. what would happen next is that he presents my case at their weekly dept. meeting, and my summary/recommended next steps will be a compilation of 5 different doctors (that's a plus!). we didn't talk much about the specific study i mentioned above, as i think that is a very long time down the road. the nurse told us that i would hear something in one week (which was last week, but you know how doctors can be w/ time approximations!) and if i am asked back to do more tests and more in depth studies, it will be up to me at that time.

here's how i feel about that: they (NIH) have dedicated a great deal of time and money to my case, which i am extremely appreciative of. if they would like to run more studies and tests, i am a willing subject. if anything, i'd love to give them more research to help specialized cases like mine, so that in the future, others would not have to suffer like i have. it would be the greatest feeling to know that i contributed to that in a small way.

when we were finally "released", lori picked up some delicious corner bakery salads (she claimed there was a "buy 1 get one free sale"- a phrase she tried to con me w/ more than once during my stay!!) and i went through the motions of eating, but all i could think about was how exhausted i was. after she left, i passed out completely, only awaking when i realized i was about to sleep through lori & paul's offer to dine at my favorite rosslyn eatery, guajillo. the rest of the weekend went by in a blur- i was incredibly run down, attacked by a vicious migraine, and extremely sensitive to the ridiculously right DC sun. but as usual, my amazing friends pulled through. julie gathered some former coworkers together for some sparkling vinho verde on friday night, then candy hosted me at her recently redecorated studio at our old stomping grounds (the port royal) for an afternoon of sex in the city & junk food (and a newsbrief on old neighbors and "hotel california" gossip).

remodeled bedroom area @ candy's place; frank & candy watching SATC; lori, nicole, julie, lara & i (& june, nic's dog)

but the trip didn't ened there! nicole & joel surprised me with a massage from joel's sister on saturday afternoon, which was the BEST treatment i have ever received. for an hour, i was able to escape the physical pain and mental exhaustion of thursday while she managed to revive many of my muscles that had formerly been on strike. her fingers were SO DAMN STRONG, and she was completely professional. you know those people who were put on this earth to do (no, excel) at something? she's one of them. i feel so strongly about this that i have to share her information here- her practice is in georgetown and you will NOT regret booking an appt, i promise!!:

Juliane Sommer (LMT- Therapeutic Massage)
1010 Wisconsin Ave, NW- Suite 345
Washington, DC 20007
202.333.2494 (by appt.)

for now, i'll try to wait patiently (i was never good @ that!!!), and hope that the brilliant geniuses over in bethesda can make some sense out of my complicated medical situation. cheers!

remember, you can view these postings directly on kitkat chat's blog

http://meggerv2.blogspot.com/