Rare Disease Day

I spent all day learning the 4 million metabolic zebras (rare diseases) in celebration of:

http://www.rarediseaseday.org/default.asp?action=link&id=20

Lets play the STEP 1 STUDY GAME ! Its fun I have been playing it all week:

A 5ft 3 inch tall 23 yr old woman presents to your orthopedic clinic with complaints of anterior right hip pain of a three week duration.  She has no recent  history of trauma to the area. She does however have an extensive history of fracture including a right hip fracture 10 years ago. She tells you she has had extensive orthopedic surgeries during her childhood and adolescence. She also had a secondary clef palate repair at 18 months. You notice midface hypoplasia and that the patient wears bilateral hearing aides. You recognize her facial features as consistent with Pierre Robin Syndrome.  You get a x-ray of the hip and notice joint space narrowing and several osteophytes. You realize that this young woman must have a rare connective tissue disease.

1. What pharyngeal arch is involved?  A. 1 B. 2 C. 3 D. 4-6 E. what the heck?

2. What protein is most likely involved? A. Fibrillin B. Collagenase C. Collagen 1 D. Collagen III E. Collagen II

3. After finally just flat out asking the patient what the heck was wrong with her. She tells you she has Kniest Syndrome. You are surprised because the following is paradoxical:

A. Hip involement B. That’s she is still alive, its usually fatal C. She is of average height. D. Usually this disease presents in males. D. Why the heck is this on the boards…I will never see one of these zebras anyways…

Kniest is found in less than 1 in million  births.  It doesn’t show up in my Path flash cards. Sad. It does have a brief mention on a single chart in Robbins.

:::::Runs to frolic gimp-ly in tall grass in honor of Rare Disease Day::::

Answers: 1. A   2.  E 3. C

Waiting for the big Pill.

(Prelude for non-disability rights fanatics…There are three theoretical models of disability that describe three ways that disability is seen by various societies and culture. The first is the moral model: the disability is a curse, blessing, gift, task, cross to bear, etc from God. The person is both spiritually and physically cursed (or in some rarer cases enlightened). The second is a medical model where the disability is a disease and the person cannot be seen as a whole person worthy of engaging in society until they are “fixed”. Third is the biopyschsocial model which sees disability as a human experience that does not in anyway change the individual’s rights to inclusion and worth within a society. Thus first and foremost resolving disabilities is in resolving misconceptions and fighting for equality.)

I have had some medical model conversations lately. It started a couple of weeks ago when I spoke to the first years. Then carried over to a new disabled community I have been wandering around online. There are different ways to talk about the medical model. You can talk about how medical professionals have been gatekeepers in the past and how they have made decisions like institution or no institution or to sterilize a disabled patient. Its easy to know where you stand as a disabled person on the historical medical model. The discussion heats up when you start tossing the word CURE around. In the age of stem cells and gene therapy, disabled folk of today might actually see CUREs to some disabilities in their life time or at least their children might. Its already sort happened for some forms of congenital deafness (cochlear implants).

I have recently met some very passionate disabled folk who are very, very, very pro-medical model. Including one disabled physician. Most average people when i tell them about the medical model assume that of course disabled people are very pro medical model: They want to be normal.

I am traditionally extremely anti-medical model. An ironic stance for a young doctor to be? Ironic that I am spending 12 hours a day studying cures and yet I don’t want one myself?

My dislike for the historical model is obvious. I have seen this in the present as well over seas. For a child to attend school in many places they have to be able to walk unassisted otherwise they are seen as a risk to the other students. Kids whose families can afford it spend their childhood trying everything medically possible to making something like walking happening rather than making childhood happen.

In terms of CUREs. You have to understand I have never known an average life. My Kniest is a part of me like having brown eyes and I am not talking in the biological sense. I can’t even really fully fathom not having it. I can fathom it not progressing. If they come out with a drug that stops or slows the progression of OA I would probably take it barring it doesn’t kill other major systems or give me cancer (worse problems). But if there was some magic pill that would somehow magically make me average I would be hesitant. Its not that I crave pain and suffering its simply that I don’t feel broken. In fact I feel some times strangely liberated from my culture’s obession with physical bodies equating to self worth. Not because I am some special, enlightened angel (moral model) but because my life experience has taught me something different.

Its not that I don’t acknowledge my limitations because I do every day. But instead of focusing on them and defining my life or even my self worth by them I just file them away along with my complete and utter inability to use commas properly.

Now back to the discussions….when I listen to disabled people now in the age where cures are real I see both sides more than I did in years past. I emphasize with the deaf community rejection of cochlear implants, they feel like the hearing world is attacking their culture, robbing them of their language and unique experiences (sort of vaguely imperialistic). I get it, they don’t feel broken. But I also relate and understand to the folks with spinal cord injuries who are really excited about stem cells or the kid with OI (osteo imperfecta, brittle bone disease) who would like to break less bones in the future. Because our lives are harder and there is no shame in wanting less pain and suffering, its human nature.
The shame is when the cure is your keeping you from your life. What concerns me is statements like I would never think of applying for that professional school (I am not talking about World Cup Soccer (the non para-Olympic kind)…think everything from teacher to doctor to lawyer) because of my disability but I would love to do that if they come up with a CURE. If your world view is “I’m waiting to be fixed” then slowly, slowly, subtly (or not so subtly) you will find yourself focusing on your broken-ness and it will rule the way you live your life.Disabled folk have spent the last decades fighting the conception that us “the broken” shouldn’t fully participate in life. If you want to end your pain, I relate to you, if you want to preserve your experience I get it. What I don’t understand is why you are waiting on medical science to live your life. Thats where the medical model is evil and its why it alarms me when I hear the word CURE tossed around so much in the disability world. I am not saying everyone who is “pro-cure” thinks this way but I think there is risk there and it needs to be understood.

Bless (with my super special inspirational special needs child moral powers ) any of you who might actually read this neverending entry…

a terrible, wonderful day…

I am home in Virignia on a non-holiday for a month for the first time since I graduated from high school six years ago. Its weird but nice.

I took a NBME (national medical board of  medical examiners) exam this morning that was supposed to be a practice test for the boards (its strictly for baseline purposes no relevance on any grades). It had the making of a disaster and the gloom and panic of my class was down right infectious after four hours of torture. I have never seen so many 20, 30 year olds so close to tears all at the same time in public not at a funeral. I ate lunch with some friends and then headed for the hills (literally) from the panic. It took me a little while to decompress but by the time I hit the border I was calmer. Spring is just beginning here, its lovely.

On a lighter note. Because I cope with stress by humor…Some thoughts on the exam: (not all of these will make sense to non-medical folk and some will not make sense to non-Wake med kids but some are universally corny )

You may need to study more for the Step 1 if you had some of the following thoughts when doing practice questions:

-You asked yourself on each professionalism question: What would Ober do? You were disappointed that there was no choice like the following:

Z. tell the family member about the death of their loved one with a lot of hand waving and introspection.

-Your micro pharm knowledge is something along the lines of! Fever?!?! Need more cowbell

-Your renal pharm knowledge is a lot like losing to your your little sister (varsity tennis star in high school) or college friends (in the case of Wake kids and I): ACE, ACE, ACE

-You found yourself answering a clinical scenario with the thought oh I saw that on ER (or HOUSE) once.

-You said a prayer of thanks for your own medical problems/family’s medical problems that got you a question or two. (Collagen II, Osteo Imperfecta and Breast Cancer, go team)

-When you didn’t have a clue all you could think was LUPUS.

-All those aliens do a lot of talking…I wish they would talk to me and tell me the answer to these questions.

-On the intoxication questions your mind was fairly blank beyond the pharse… “Why is all the Rum gone?”

-You answered at least one psych question thinking this is me in four weeks after all the studying I have to do…

-When you saw a puncture… I mean punctuate rash…you wanted to put: vampire bite as the etiology.

-When choosing agars…you chose chocolate because it tastes the best (not really its mostly blood)

0:)

I have been taking pictures but I left my photo cord up here by accident so I need to steal it back from my sisters before I post them.

the half way point

In one way I feel like I have been in medical school FOREVER and in another way I feel like I blinked on my college graduation day and am now on the eve of third year. Oddly the day I got my first medical school acceptance letter I had an eye doctors’ appt. Today I had one two. Medical school milestone seem to be associated with photophobia and pupils the diameter of my thumb.

 

As I set blinking away the stars and trying to study auto-antibodies, my mind drifted back to the day 2 and half years ago when I sat there. I remember I was carrying my ancient blue messenger bag which sat on my lap while I waited for my pupils to enlarge. The letter was still there from when I had opened it that morning. I remember being in shock that it was over, one or the other I was going to medical school. 

Today I sat blinking and in awe of the fact I never have to go back to class (we do have lectures in third/fourth year but more in a small group format and never for more than  a day and usually not for longer than an hour). I felt an intense feeling of relief. I have whined about the last two years and my own feelings that I have not grown as much as a person as I would have liked in some ways and how I feel like I never seem to know everything I need to know. But looking back I know so, so much more than I did two years ago. I have learned a new language and I can now read it and speak it somewhat fluently. Its sort of remarkable how much I have learned. 

I marveled at the spring weather today, it reminded me of newness. It rustled in the anticipation that is so deeply ingrained in me…summer. My sister called, she just got accepted to work at the camp we all went to as kids and I worked at in high school. I was instantly filled with childish longing of endless days of living outside and building relationships with kids. Then it dawned on me I get to do something much, much cooler this summer. Not only do I get to build relationships with people, I get to actually take care of them, operate on them, deliver them and assist them in the most significant moments of their lives. And suddenly the jealousy melted and for the first time since Romania I didn’t hate medical school.

In fact I was suddenly ecstatically excited about medical school. Suddenly clinical medicine is not some sort of distant, abstract, theoretical reality or daydream its here. And while it certainly won’t be all Popsicle stick creations and bug juice, it’s certainly going to be an amazing chance to learn and grow. And I have been daydreaming about it since I was 14, how many of those daydreams actually come to fruition. I can’t help but be excited. I can’t help but be ecstatically grateful and happy for today’s milestone.

I am finished with the first two years of medical school as of today.