ALS: Tim’s Disease

January 12, 2010

This week I learned that a college classmate was recently diagnosed with ALS or Lou Gehrig’s disease. I was shocked because he is only 30. I never knew ALS could affect people my age, but apparently he has a genetically-linked variant that has something to do with a mutated superoxide dismutase 1 enzyme. The human body is so complex, there are endless possibilities for disease, but the rare variations never cease to jolt me.

Along with the initial shock, I thought “Why Tim?” He is such a lovable and wonderful person– a musician who plays in a band. At least two close friends of mine (and probably more like half the girls on campus) had HUGE crushes on him. Now he’s newly married to a wonderful woman who is committed to staying with him throughout his illness. I didn’t know him too deeply myself, but he stood out in many positive ways. He even has a tattoo from a Quaker song book. I would never have imagined that he would be struggling with a degenerative illness so soon.

While I was in the Dominican Republic last summer (and actually had time for personal reading) I read Tuesdays With Morrie.  This is a poignant book written about a Brandeis professor who is dying from ALS. I highly recommend it. I learned that one of the doctors who was volunteering with me had a father who died from ALS too. His dad was diagnosed with ALS right before he took his Step 1 Board exam in medical school (awful timing for a future doctor).

I learned about ALS in my neurology class this fall- I learned the medical facts, that is. It sounded like one of the worst neurological diseases, not simply because it is currently a death sentence. Mainly it is terrible because a person’s body changes without the mind. In other words, ALS (like Huntington’s Disease, “Locked-In” Syndrome, or spinal injury) causes loss of body function while the mind stays completely intact.

Of course, exceptional people who are surrounded by love have an amazing capacity to cope with mental and physical suffering that disease brings. The dry facts about any disease can’t come near to the more complete knowledge of a person with the disease. They can’t begin to explain how people feel or cope.

One of my greatest life lessons of the past 10 years has been accepting mortality and tragedy.  Understanding the reality of so many bad things that can happen at any moment makes me feel scared and vulnerable.  Yet, it helps me to challenge myself, and avoid making many decisions based on unrecognized fear.  Perhaps one of the greatest lessons in medicine is not only accepting the diseases, but actually knowing the people who have them too. This next life lesson is why I am so excited about beginning my clinical rotations this Wednesday.

After this week ALS will not be just “ALS” anymore. ALS will be Tim’s disease. I won’t forget it because I can see him alongside his wife. If I see anybody with unexplained neurological weakness, ALS will be whispering in my ear and begging to see a neurologist. Thanks to Tim’s friends and modern technology, I’ll remember his experience on video, and most importantly, his story will live with me forever.


Blood Cancers

November 24, 2009

Medical school keeps expanding my horizons.  I thought “leukemia” and “lymphoma” were two separate and complete diagnoses.  I was wrong of course.  If there is one thing I’ll take away from Hematology/ Oncology or “Heme/ Onc,” it is that there are more than 30 different types of these cancers, lymphomas and leukemias overlap, and there are many more types of chemotherapy drugs than cancers (and then there are more drugs to combat the side-effects of the chemotherapy drugs).

One of my cousins had lymphoma in 2008, and I now wish I had asked what type of lymphoma she had and which drugs she took.  In any case, my final exam (75% about blood cancers and treatments, and 25% about blood disorders such as bleeding diseases) is tomorrow, so naturally this is the main thing on my mind right now.

Throughout my time in medical school, my husband generously agrees to flip through my note-cards to help me study.  Recently I’ve noticed these study dates require my deciphering my own abbreviations, and subsequently long explanations.  No wonder he’s starting to get bored out of his mind.

A sample dialogue:

My husband reads my notecards: “Doxo-roob-eye-sin and Dawn-o-roob-eye-sin.  It says M-O-A and S-E.”

I answer: “Ok, Doxorubicin and Daunorubicin.  MOA is Mechanism of Action.  Those are alkylating agents, a type of chemo.  They basically lock the DNA in place so it can’t replicate, and it works during all the cell cycles.  They also inhibit topoisomerase 2.  Um, daunorubicin is better for liquid tumors and doxo is better for solids.  You know how I remember that?  Because Dawn is a liquid soap!  Let’s see…the side effects are lowered bone marrow, and color-changing urine.  Oh!  And they are cardiotoxic… I HAVE to remember that!   Ok, I think that’s all I need to know.  Anything else on there?”

My husband: “Yeah, it says ‘intercalcalate DNA’ and ‘S-E down arrow cytopenias, alopecia and vein leakage.”

Me: “Ok, well ‘intercalcalating DNA’ is basically what I said before- it’s locking the DNA together, and cytopenias- that’s what I meant by ‘lowered  bone marrow.’  Alopecia/ baldness, and vein leakage- alright.”

My husband: “Myelo-proliferative disorders- Chronic Myeloid disorders.  CML, CNL, CEL, PV, ET, PM.”

Me: “Those are all chronic blood cancers.  That means the cancer cells are mature, and all those letters stand for different types.  CML is neutrophils, CNL is also neutrophils, CEL is eosinophils, PV is red blood cells (that’s not really intuitive), ET is platelets, and PM is cartilage- that one is pretty weird because cartilage isn’t really a blood cell in my book.  If I had to pick one of those for us to have, I would pick ET, and the worst one is PM-primary myelofibrosis because basically we’d die pretty quickly.”

*Horrified look on my husbands face*  ”Ok, that’s more than what you had on the card.  You mean all those things are in blood?”

Me: “Oh yeah, there is tons of stuff in blood.  Red blood cells, immune cells, clotting factors.”

At this point we get into a conversation about blood products, and my husband would like to know why they can’t just make sprays of clotting factors that you could use when you had a big cut.  Interesting idea, but I don’t think it would work.  Why not?  Another long explanation.

Anyways, you can see how this memorization starts to feel kind of boring for my husband after you repeat it for fifty cards.  By the time we get towards the end, he yawns and sighs and is so thrilled to hand the stack back to me.  I see that my horizons are expanding beyond the normal realm of knowledge, and definitely off into another planet with its own language (medical terminology), abbreviations (SE is side effects naturally, and BM is bone marrow or bowel movement depending on the context), and its own values of what is fascinating (like the details of the clotting cascade and different types of blood cancers).


The Microbe Galaxy

November 3, 2009

Do you know that feeling you get when you look into the sky?  You see the stars, and comprehend that you are a tiny speck on planet earth, which is a tiny dot in a galaxy that surrounds you with zillions more stars!  In one moment the breadth of the universe explodes inside you, and you become part of something incomprehensibly large.

In microbiology, it was a similar feeling except backwards.  I had to swab my throat, my nostrils and my butt, and touch each bacteria-laced cotton swab to a plate.  Then, with a metal wire as thin as my hair, I touched the spot and rubbed it over the whole dish.  After a few days we got our plates back, and they had become odorously filled with spotted colonies.  At first, like the night sky, they all seemed like similar dots, but looking closer revealed rich diversity like smooth versus spotty, and creamy white versus opaque.

Again, I touched my sterile hair-wire to the colonies and placed a single stroke onto new plates.  When these colonies grew, I made slides and stained them.  For each slide, again I touched this thin wire to one tiny place on the plate and then rubbed it on a glass slide.  When I focussed my first slide on the microscope at 100x, I was stunned to see thousands of bacteria! The purple dots were connected in perfect lines, tangled together like a mess of Christmas lights.

If this is what one little hair could pick up, I started to think about the space in between my teeth, my throat, my body, and every surface I touch throughout the day.  No wonder people become obsessive compulsive.  The bacteria go on and on and on… not to mention the viruses or the tiny parasites that can crawl into our skin, sleep in our beds, and live in our blood!  I thought of the silly story I heard in middle school about how many spider legs we inhale every day, or are in a candy bar (and now how many bacteria are living on a single spider’s leg).

No matter how often we wash our hands, we are the night sky filled with microbes.  And if we count cells, we are more bacteria than human.  Being able to see my own bacteria made them real creatures, and suddenly my daily life is filled with company that I didn’t imagine before.  I find myself washing things more, and unable to eat party food.

A doctor friend said she understood my fears about party food “…not to mention sushis, sashimis, oysters on shells, nice rare steak, eggs sunny side up,…. yup, we’ve all been there .”  I’m sure I’ll get over the extremes of not wanting to eat any party food, but I think I might never get over my desire to look at the microbe galaxy from time to time.

As some of my classmates were complaining about our “boring” lab, I was secretly plotting to take swabs from other parts of my body… or my kitchen sponge, and even my friend’s rash and my husband’s infected eye! Well, I didn’t do it (yet)… but if I had a gram stain kit and a microscope, I would be entertained for hours.  Just as I enjoy gaping at the night sky every once in a while, I think I’d like to stare into a microscope and remind myself of all the little things out there.


H1N1 Q and A

October 20, 2009

Everybody is talking about the “Swine Flu” lately.  Since I’m studying Microbiology- Infectious Disease (Micro-ID), this seems to be the perfect time to add my own commentary.  So here goes…

H1N1 or Swine Flu- what are we supposed to call it? Well, I think either is fine as long as you know what you’re talking about.  H1N1 is its proper influenza name, a name which is given based on type of each glycoprotein on the surface of the virus envelope (to visualize glycoproteins, imagine Lego blocks super-glued on the surface of a globe).  N=neuraminidase and H=hemagglutamin (only 3 types of Hs and 2 types of Ns exist in humans, but other animals like birds have more).  The problem with H1N1 is that it can easily be confused with previous H1N1 influenzas (like the Spanish Flu pandemic of 1918 and its resurgence in 1970′s).  The virus genome encodes 12 proteins (only two are H and N), and this H1N1 is different.  It was born from a human virus, a bird virus, and two pig viruses (hence the “swine”).

Will H1N1 be the next pandemic? No, definitely not.  First of all, most people over 25 have some immunity, and everyone’s immunity will soon be expanded by the vaccine.  The other “good news” is that H1N1 is susceptible to antiviral medications that already exist, so if you’re American with a normal immune system, chances are that it won’t get a chance to kill you.  Although a $45-65 antiviral treatment is too expensive for most people and countries, if you can read my blog- then you have access to antivirals.

What’s with all the hype? My idea is that the world is trying to get ready for the next big influenza pandemic, which no doubt will happen in the next 50 years.  New virulent strains are rare, but with all the invisible viral recombinations that take place inside cells daily, probably a new type will form with Hs and Ns that humans have never seen before.  Then, there would be a real pandemic scare!   Public health awareness about the dangers of influenza and importance of prevention could stop future pandemics.  Plus, hand-washing is easy with alcohol-based rub (which obliterates the influenza envelope).  So, let’s take hand-washing to a whole new level!  If the media wants to make everybody believe that H1N1 could be pandemic, so people will be more concerned about hygiene… well, it may very well save millions of lives later, so who am I to argue with that?

How long can H1N1 survive on surfaces? 2-3 hours

Will the H1N1 vaccine be safe?  This is a common concern because of how fast the vaccine has been manufactured and mass-produced.  But actually, the H1N1 vaccine is just like the regular flu shot.  So, yes, it’s safe (unless you have an allergy to eggs or another protein in the vaccine, which most people don’t).  And it is certainly safer to get the vaccine than not.

Should you halt all your trips to Mexico? No.

What kills you when you die of the flu? Excellent question!  I was wondering myself- oh wait, that’s obvious since I am writing all these questions!  Turns out influenza doesn’t kill you.  It depletes the immune system, so bacteria invade.  Then, usually people die of pneumonia, respiratory failure, or other opportunistic infections.

Any other questions?  Add them below and I’ll do my best to answer.


Epilepsy: My Disease

September 15, 2009

Last week I finally finished a book I was reading for leisure—The Spirit Catches You, and You Fall Down by Anne Fadiman. Two people independently had recommended this book to me.  And in fact, I thought it was a wonderful combination of history and cross-cultural perspectives as a Hmong family tries to understand the Western medical approach to their daughter’s epilepsy.  I found this book at a perfect time since I am fascinated about cultural sensitivity and ethics in medicine, and I am currently studying neurology.  However, the story struck me personally as well because I, like the main character Lia,  had epilepsy.

This week I have lectures and reading about epilepsy, and I cannot deny that it is unique to be studying something as a medical student, which I once knew mainly as a patient.  I’m not sure if I should share this with my classmates or not.  Obviously, it isn’t something visible to most people, and the culture of medical school does not encourage sharing about personal hospital stays, surgeries or diseases.  Little do my classmates and I acknowledge that we who become doctors, must at some point be patients also.  After reading many essays written by doctors, I conclude that the experience of being a patient usually has profound impact on medical professionals.  Instead, as medical students we learn that studies show it is important not to mention our own medical experiences with patients, and it seems that this extends to become a vow of silence about any health challenges we face ourselves.

As I have had the chance, I have been trying to break this silence, and let people know that I had epilepsy for two big reasons.  Foremost is epilepsy carries stigma which needs to be challenged.  Most people have a narrow view of the disease that likely includes somebody shaking violently, mental retardation or psychological problems.  And second, I want people to know because I spent so many years of my life trying to erase epilepsy from my past.   As soon as I outgrew my seizures, I removed my medical alert bracelet, did not mention it to my friends, and became furious when my parents brought it up.  Now, I feel guilty about my shame, and I want to be able to embrace it as part of who I am.

Over the past few years I’ve learned that NO human has perfect health all the time.  I should be glad that one of my health defects came as a relatively mild seizure disorder. I am in good company with others who allegedly had epilepsy (such as Isaac Newton, Vincent Van Gogh, Agatha Christie, Napoleon, Charles Dickens, Michelangelo, Leonardo da Vinci to name a few).  Despite this, I still remember the day that my neurologist told my mom that “people with epilepsy do not become doctors” (yeah right, doc).  Obviously, despite being a neurologist, he had never personally gotten to know anybody with epilepsy.

If my neurology readings are accurate, then many people with epilepsy do suffer from comorbidities like developmental delays.  However, please do not forget that the majority of people are normal and happen to have seizures.  As far as I know, my partial-complex temporal-lobe seizures, which started at age 9 and disappeared by age 16, are not rare.  A Newsweek article earlier this year said epilepsy is more common than breast cancer, and that 50% of children outgrow it in a few years.

Now that I am learning about the cortex, my memories of seizures start to make physiological sense to me.  My seizures were accompanied by an aura (a strange smell) a couple times.  Yet mostly they started with the sound diminishing around me (like a volume dial was turned down) and other auditory stimuli that sounded like voices.  Sometimes I also saw colorful “blobs.”  As soon as this started, I was usually frozen until I lost consciousness.  At that point, I don’t remember anything except waking up (1-2 minutes later) and being scared and confused about who and where I was, and who the people were around me.  Yesterday I learned that this phenomenon is called “jamais vu” and occurs because the temporal lobe is close to the emotion and memory processing centers of the brain.

I can never forget what it was like to have my brain take over my mind.  Additionally, I cannot forget the challenge of EEG’s and getting an accurate diagnosis, or the  powerful side effects from the medications that included projectile vomiting, severe sedation and cataplexy (loss of muscle tone while laughing).  Our lecture materials make the diagnosis sound easy… epilepsy is diagnosed by 2 or more seizures and an abnormal EEG.  Yet, seizures aren’t always obvious, and EEG’s are scheduled into short time slots (seizures inconveniently cannot be scheduled).  Thus, many patients may be unsure if they are having seizures and they may not have abnormal EEGs.

If I feel this way about epilepsy, then every disease I am learning about must have a depth of complexities and contradictions.  The strange things that the brain can do and its delicate balance of neurotransmitters are fascinating, but simultaneously surprising and confusing.  Today, for example, I saw videos of people who seemed normal, but had specific deficits such as the inability to recognize faces or read.  Most surprising, however, is watching the brain rationalize behaviors—to make sense of what’s happening or how one is behaving, even when it doesn’t make sense.

So whether it’s a seizure or idea, the brain is self-programmed to control us, rather than vice versa.  Epilepsy forced me to admit powerlessness over my brain long ago; this lack of control or individuality will ultimately allows me to feel more spiritually connected.  These lessons from my disease- epilepsy- remind me that medicine is less simple than what I must learn, and gives me reverence for all my brain lets me do.


Glioblastoma: Bill’s Death

June 18, 2009

Summer has begun, and I just returned from one of the best vacations of my life- an 18-day trip with my husband to Europe to visit my Italian family and sight-see.  I’m not sure if the trip felt so amazing simply because I have greater appreciation after working so hard, or whether it was truly just a fantastic trip.  Nevertheless I feel extremely grateful for the wonderful memories and time to travel.  Yet as I was having a great time, something striking happened back home- a deeply loved member from my Quaker Meeting died.

Thanks to modern technology, I learned of his death within three hours.  Although he was younger than my own father with two children in their early 20′s and a devoted wife, his death was not a surprise to me.  The shock began in January when he suddenly began to feel forgetful.  Worried about early-onset alzeimer’s disease, he went to his doctor immediately.  After an MRI and biopsy he was diagnosed with glioblastoma, a cancer of the glial cells that was located between the two hemispheres in his brain.

I knew glioblastoma because it was responsible for the death of two of my grandfather’s sisters- including my Aunt Dot’s death last year.  She was diagnosed in May, and she died the first week of December.  She was in her 80′s, but it was nevertheless a great shock to her children and husband, who were still depending on her for a lot of care and help with grandchildren.  The family sent updates often, and therefore I felt included as Aunt Dot quickly became consumed by the cancer.

Like my Aunt Dot, Bill was deeply loved.  He was such a talented person who had a true gift with relationships and words.  I can still hear his gentle, but powerful voice, and his laugh.  Logically, I knew what glioblastoma meant when I heard of the diagnosis- it is a death sentence.  Yet, I also knew intuitively that nobody should give up hope completely.  Being a medical student means I have access to a library of medical journals and books worth thousands of dollars, so I decided to use some of my resources to learn more about this cancer.  To my horror, the statistics were more grim than I thought.  To date not a single person with the advanced stage of glioblastoma has lived over 2 years.  The only therapy- chemo treatments and radiation- could prolong life an average of a few months.  As I read those words, I sat mortified as my hope for Bill diminished.

The shock hit me then, and over the past six months it has come and gone.  During a lecture on “Death and Dying” I thought of Bill and his family.  At Meeting, the children asked, “Is Bill dying?”  And in our community we realized that everybody is dying.  Bill and his family ever-so-gracefully were showing us the tragic truth that life will end, and nobody can control their death.  Medicine acts like it can save people, but it usually cannot.  We often tell ourselves that death will come tomorrow, but it could come today.   And as I mourn for Bill and rejoice in his life, I feel humbled.

I am preparing to leave for my volunteer service in the Dominican Republic, and one question that has been on my mind is whether we can truly help those people with severe or chronic medical problems in our rustic general-medicine clinic.  I realize, however, that my rural village has probably lost many people like Bill.  Since they are a small close-knit community, no doubt they have already accepted the truth about death.  In a community that rarely gets any medical attention, people have probably learned to cope with unexpected and inexplicable death and suffering much better than the average American.  This is something that I’m still learning- something that Bill, my cadaver, and others have helped me see- that sometime we must suffer, and sometime we will die, and there is nothing anybody can do to prevent it.

“When you were born, you cried, and the world rejoiced. Live your life in such a manner that when you die, the world cries and you rejoice.” – an Indian proverb

Porphyria: A Bloodthirsty Biochemical Explanation

November 25, 2008

During this summer, I was preparing myself for medical school by doing foolish things, and I read a popular teen vampire novel called Twilight.  This week Twilight the movie premiered, although I haven’t had time to go see it yet.  However, it was during this same week at one of my final biochemistry lectures that I learned something very interesting and unexpected… vampires are real!

What?!  Why didn’t I hear about this disease before?  Oh yes, that’s probably because people who actually have this genetic disease would rather not be related to vampires.  Given that vampires are considered evil by many people and were tortured outcasts of society, this is a touchy subject. The legend of vampires exists nevertheless, and there is a real medical explanation for how it may have originated.  Therefore, I feel compelled to share this intriguing knowledge.

It makes sense that before science was able to explain strange genetic diseases and symptoms, people assumed that they were connected with the devil or a result of certain behaviors or diet.  In fact, when I lived in rural Ukraine, pregnant women refused to cut their hair, thinking it would cause birth defects.  Yet, now we know that genetic defects are often the result of a tiny, unlikely mistake in the duplication & division of DNA.  A single tiny rearrangement or deletion can cause a lot of strange things to happen- it’s amazing that most of us come out looking “normal.”

The possible explanation of the vampire legend is one of seven types of porphyrias, which are all diseases in the synthesis of heme (the compound in blood which carries oxygen and carbon dioxide to keep us alive).  Heme is synthesized in the liver and bone marrow.  There are eight steps, four of which take place inside mitchondria and four in the cytoplasm.  Therefore, there are multiple opportunities for defective enzymes and build up of intermediate products.

The interesting thing about the intermediates in heme synthesis is that they contain many benzene rings.  When these rings are oxidized, they can absorb light and appear to be colored (think of purple-yellow-brown-greenish bruising when heme is broken down right under the skin).  When there is a build up of intermediates, it causes purple urine, red and fluorescent teeth, and extreme sensitivity to light rays.

The type of porphyria believed to have started the legend of vampires is called porphyria cutanea tarda.  It leads to a build up of products which cause a variety of problems.  First, people suffer from extreme anemia, so they are very pale.  Additionally they have red and fluorescent teeth, which can look pretty strange.  The intermediate products in their blood can oxidize to become insoluble when exposed to sunlight.  This causes pain and blistering in their skin, so they would try to never go outside in sunlight.  Also, drinking fresh blood, which somebody may have figured out, could relieve the neurological symptoms.  This was a genetic defect, so it stayed within families.  Since these people were probably outcasts from society, they may have married cousins causing the disease to proliferate faster.

None of this is proven fact because nobody knows where any supposed “vampires” are buried.  Otherwise, it would be possible to dig them up and perform a genetic test.  Also, this explanation doesn’t explain a fear of garlic or why you have to put a stake through their hearts to kill them.  This is an extremely rare disease.  Yet, it’s interesting to know that we understand so much about the body now that we can go back in time to solve medical mysteries.