Trains

Today is my last day at work and I took the train. Among everything else, a good thing about this internship is that I have made peace with mornings somewhat, and it makes me feel more professional to get things most of my work done before noon.

I'm brainstorming ideas for my final paper right now, so I'm going over everything I've done. I think the most helpful thing I've done here is to read over the process notes. The Friday morning talks (especially Dr. Manning's CSI style presentation) were also a highlight, as well as the HCM conference. I've learned a lot more about the structure of a session, answers to specific questions I had, and I have a better sense of what kind of work genetic counselors actually do. Here's a list of my brainstorm. Apologies for cryptic phrases...

• process notes
• prenatal = favorite
• no clinic, but that's okay
• 9 AM seminars (CSI!)
• HCM conference
• blend of psych/genetics
• grad school applications
• hospital atmosphere
• Stanford campus
• psychosocial vs. science
• intern vs. volunteer
• useful work
• videos of sessions
• made me want to work and study even more
• textbook devouring
• not all glamorous
• hard work, research
• play to strengths
• each has own style
• patients' process/agenda
• contracting
• rotations
• metabolic, cancer, dysmorphology, prenatal

This has been one of the best things I've ever done. Sometimes I can't believe it all worked out so well... I've really learned that taking initiative can yield great results. One should always ask, "what do I have to lose?" If the answer is NOTHING, then just take a chance and go for what you want. I'll probably keep using this blog, but turn it into a "grad school updates" blog soon. This semester is important and I need to keep track of things! This has been so much fun and I hope I'm back at Stanford someday soon...

Picking Up Speed

I can't believe I only have two weeks left here! :( Time has been going so quickly... I feel like I have so much to do and so little time. I now know for sure that this is what I want to do. It's the perfect combination of teaching and listening, and I can use what I'm good at and be successful at it. I know I'm on the right track; I just have to make sure I stay on it, and push through when it's difficult (aka biochemistry). It'll be worth it. The hospital inspires me... it's bursting with brilliant, motivated people who love what they do and are the best in their field. I need surroundings like this.

Dysmorphology

This morning I went to a seminar entitled Introduction to Dysmorphology. It seemed very familiar, and then I remembered that Dr. Manning briefly went over some of the information in the previous lecture of hers that I attended.

A dysmorphic feature can be a normal structure that is abnormally sized, proportioned, or shaped, or it can be a feature not normally present. It can be a major or minor anomaly (minor, meaning not interfering with health or cosmetically unusual/dangerous). An isolated anomaly can be in one of three categories. A malformation arises from an intrinsically normal developmental process, and is more likely to be genetic, like a congenital heart defect. A deformation arises from mechanical forces on an otherwise normally formed structure, like clubbed feet. A disruption is the destruction or interruption of intrinsically normal tissue, such as fewer fingers than normal.

Anomalies can originate as associations, sequences, or syndromes. An association is a nonrandom occurence of multiple anomalies that cannot be explained by chance alone. The cause of the anomalies is not known. It is "promoted" to a sequence or syndrome if the cause is known. A sequence is a series of anomalies due to a single problem in morphogenesis (growth/development), that leads to a cascade of subsequent events. A chain reaction, basically. A syndrome is a recognizable, recurring pattern of multiple anomalies, in which all cases are due to a single, identifiable etiology.

Apparently these terms are thrown around somewhat interchangeably in the industry, so it was nice to have clarification. I like organizing and putting things into categories because it makes for good notes, so this was my kind of presentation. At lunch I went to another talk about VLCAD, which is a fatty acid oxidation syndrome. It was interesting to hear about the different cases, and even more interesting to see a male genetic counselor! This is the first time I've ever met one (I write as if they're endangered wild animals. Well, they ARE rare...)

An eventful day so far, and now to keep plugging away at the process notes, some of which read like three act plays. Stay tuned!

Clinic

Tuesday was supposed to be my first day in clinic, but it didn't work out because our patients didn't show up. Unfortunate, but I did spend my time somewhat productively, looking through a textbook of dysmorphology (my theme for the week) and learning more about the counseling process from Kelly.

It turns out that genetic counselors sometimes help physicians make a diagnosis. Not directly, mind you, because GCs don't have MDs, but gathering a complete and accurate family history is an integral part of any diagnosis. After getting a family history and constructing a pedigree, the GC can look up the patient's symptoms and narrow down the possible diagnoses for the physician. The GC can't MAKE the diagnosis, but they help. Some geneticists do this preliminary work themselves, if they work alone, but GCs can do the legwork and facilitate post-diagnostic counseling.

The Conference

Today was the conference about familial hypertrophic cardiomyopathy (HCM). Let's see if I can summarize this complex condition in a few sentences: The muscles of the heart expand, putting stress on the heart itself and interfering with the electrical impulses that control blood flow and heartbeat. The symptoms may include irregular heartbeat, shortness of breath, dizziness, and chest pain. It is the most common heart condition that leads to sudden death among young athletes (remember Lucas and his father Dan in One Tree Hill? HCM is why he was advised not to play basketball). When talking to some of the families at the conference, I'd sometimes bring up this HCM reference in a popular TV show, and most of them were glad that HCM was getting attention in the media. They said it was encouraging that the show spread awareness of the condition, and that it advises young athletes to get tested and be careful.

The main thing that I took away from the conference was the importance of clear communication and knowing your audience. As a genetic counselor, my job would be to translate complicated medical data and highly specialized jargon into clear information that any patient can understand, without making them feel like I'm talking down to them. This is more complicated than you might think - it requires not only a detailed and extensive knowledge of the science behind the concepts being explained, but also stellar speaking and teaching skills. If I explain something and the patient doesn't understand it, I need to come up with a new way of explaining it, and fast. The conference attendees were, admittedly, probably far more knowledgeable about HCM than the average patient who might come in to the clinic, but I still felt that some of the presenters were talking above their heads. I felt that they were there for personal answers, not medical answers. They're well acquainted with the symptoms and treatments; it seemed like they were more interested in the personal stories of patients with HCM, which were positive and gave them hope that all is not lost. That's just my opinion though (based on the questions asked after the presentations, and talking with families on the way to and from the clinic).

I also felt more than ever that a condition does not have to define a person. There are people with life-threatening illnesses who manage to have happy, productive lives, and that is something to keep in mind if and when bad news has to be broken. It was a good reminder that I know will stay with me.

Process Notes

On Wednesday I started working with Process Notes. These are verbatim transcripts of genetic counseling sessions, led by a student and supervised by a genetic counselor. Actually reading through the sessions was eye-opening for several reasons. I didn't realize sessions were less than an hour. In my mind, talking to patients seemed like a much longer process, although this is still true when you consider the possibility of multiple sessions and follow-up.

My first case dealt with the advanced maternal age of an Indian woman who had married her first cousin. (note: Indians are notorious for being a very private group of people. Many topics are taboo, and any problems are glossed over and ignored instead of addressed.) This woman was so vague. She kept insinuating at things, hinting at things, evading direct questions, and was simply not knowledgeable about many important factors regarding her family, because of the taboo nature of these topics in India. When we're told to be sensitive of culture and beliefs while counseling patients, you generally think of something like, for example, being extra gentle when discussing abortion with very religious families. But evasiveness and cultural thought processes are a whole different ball game... it will take some getting used to, but already I can spot instances where the counselor should have said something different, or been a little more empathetic.

My job is to summarize the cases for Kelly's use in her classes, and also highlight certain aspects of the session, such as type of question, instances in which empathy is used or should be used, and psychosocial aspects of the cases. It's been really good to read the beginning stages of the session, because until now I had no idea how a session begins. Contracting is very important (the part where the patient and the counselor agree on what the session will aim to accomplish), and it's also great to read the personal notes of the students conducting the sessions, which point out mistakes or things overlooked, and how to fix them.

Tomorrow is the Hypertrophic Cardiomyopathy conference... exciting!

Babies. The End.

I've been reading a lot about different kinds of genetic counseling since I started here. Coming in, I was the most interested in prenatal counseling (the counseling you give a couple who's trying to get pregnant or may have a baby at risk), and I must say that even after learning about cancer genetics, metabolic genetics, and pediatric genetics, I still left my heart in prenatal.

There's some facet of prenatal counseling that seems more hopeful than in the other fields. There's a couple, excited and anxious to have a baby, but worried that something might go wrong. Whether they have health problems or are perfectly healthy, I adore babies and would love to work in their proximity. I feel like I would be more passionate about my work if I focused on prenatal counseling; it tugs at my heart and makes me want to solve all problems so babies and their families would never have to suffer. That said, I also feel strongly about cancer genetics because of my mom, so that's still on the table as well.

Tomorrow I start working with session transcripts, I think, and on Thursday is the conference. More later!

CSI: Genetics

This morning I met Louanne Hudgins, the Director of the Medical Genetics division and Professor of Pediatrics, and walked over with her to the Friday morning case studies meeting. She commented that my attire was perfect for clinic, but that I could dress down a little for these meetings if I wanted. There have been studies that show that physicians who wear ties are respected more by their patients. TheBestMedicalCare.com writes that:

If you want to be respected as a professional, it is also important that you look like one. Personal grooming is vitally important, as is your bedside manner. Remember that patients examine you in great detail, and the way you carry yourself is very important. You must look successful to convince your patients that you are, and the packaging can be as important as the product. Many patients say they feel better just after seeing the doctor, which is you need to take time and trouble over the way you look. Not only should you be fit and not smoke; you should also be well-dressed and well-groomed. A sloppily dressed doctor can be invisibly signaling to his patients that he may be sloppy in his operative technique as well. For example, wearing a smart suit can help to enhance your image, and if it helps your patients to feel better sooner, surely this is a worthwhile investment.

I think I'll stick with what I usually wear just to be safe...

The case studies meeting was fascinating. The first presenter, Melanie Manning, MD, gave a presentation of genetic disorders based on CSI episodes. She was funny and so interesting! I wish I knew more about the symptoms of each disorder so that I could guess it before she told us, but that's what I'm here for (although I did get the Down's syndrome and Chimerism cases right!) The disorders we went over included:

• Ambras syndrome: excessive hair on the face and upper body; the afflicted are often called "werewolves" and other derogatory terms. Can be mentally normal.
  
• Marfan syndrome: long limbs, long and thin fingers, and defects of the heart valves/aorta
• Down's syndrome: developmental disabilities and distinctive physical characteristics. Results from extra 21st chromosome (trisomy 21)
  
• Porphyria: severe pain, neuropathy including seizures and mental disturbances, liver problems, usually need excess protein to survive
  
• Achondroplasia: dwarfism, slow motor movement, low muscle tone
• Tay-Sachs: lipids collect in nerve cells, which leads to deterioration of mental and physical abilities, blindness, deafness, inability to swallow, muscle atrophy, paralysis, death usually before the age of 4.
• Chimerism: two or more different populations of genetically distinct cells that originated in different zygotes (different from mosaicism, which is when different cells emerge from the same zygote.

Melanie commented that some of the portrayals of the disorders on the show were less than accurate, and that they should have consulted a geneticist. Another possible career choice...? :)

The second presentation was by Sarah Dugan, MD, who will be getting her Ph.D. in a few weeks. She went over some cases at Lucile Packard Children's Hospital, which is right next to Stanford Hospital and Clinics. This presentation read like multiple unsolved episodes of House. Children come into LPCH after there are so many mistakes made; it's really disheartening and I felt so bad. I've been told that getting too emotionally attached to patients/clients is not a good thing, since bad things do happen, but I can't help it. I guess it's just something I have to work on. All in all, this meeting has been my favorite thing so far and I'm looking forward to the one next week!

Biobanking and Ethics

On Monday I went to a seminar about biobanking and ethics led by Barbara Koenig, of the Mayo Clinic. Biobanks store blood samples and use them for research purposes. There are issues of possible misuse and theft, implications for insurance, and privacy concerns, but on the whole it was just interesting to see how these seminars work. It's pretty much just like the graduate class I took on Human Fertility - the leader of the seminar is the professor and we're all her students, except she values our input much more. But people still ask the same sort of questions as we do in undergrad classes, which is reassuring because it means I'm not expected to know everything, just to be attentive and learn quickly. I managed to write down some useful notes and names of people at the Bloomberg School (Johns Hopkins) and even a guy at UBC.

NOTE TO SELF: Stop wearing heels to work! I've had to walk around more than I thought and I have the worst blisters. Heels are not for transportation, just decoration.

Mondays' bonus of the day: someone brought in birthday cake, and it was delicious.

The Boswell Clinic

So here I am at Stanford. As a die-hard golden bear, it's a little strange, but I got over it fast - this is one of the best and most beautiful hospitals in the world.

I'm interning for the summer under Kelly Ormond, the program director of the Genetics Counseling Department. This position is a dream come true, and (cross your fingers) will hopefully help me get into graduate school here. It's weird to be starting the admissions process all over again, but for the same first-choice school. Don't get me wrong, I love Berkeley with all my heart, but we all know what I was like in high school. Anyway...

It's not all glamorous, although the hospital definitely is. I'm currently in the basement (GC gets no respect (yet!); the program is only a year or two old). I'm sitting at a desk with my very own nameplate that says "Masters in Human Genetics). I love it here; I have to work here. Or at least go to school here. So far I've done a bunch of readings, watched some webcasts of actual classes I'd be taking, taken a ton of notes on my yellow legal pad, and checked my copy of Stedman's Pocket Medical Dictionary more times than I care to count. For example, what is a choledochojejunostomy? It's an anastomosis between the common bile duct and the jejunum, of course. You learn something new every day.

Future posts: routine, coworkers, seminars, readings, projects, and most delightfully, the cafeteria!