Immersion Phase Update: Pediatric Genetics (4/27/15 – 5/22/15)

I spent another month at the Children’s Hospital, but this time I was on the outpatient side of things, in pediatric genetics clinic.  This elective is not one that most people decide to take, especially if they’re not going into peds.  But I’d come into medical school thinking that a career in pediatrics–maybe genetics–was a strong possibility (before med school, I’d even toyed with the idea of becoming a genetic counselor).  I shadowed a geneticist one morning as a first year and saw a handful of interesting patients and diagnoses.  By the end of that half-day, I wasn’t sure whether it was the career path for me, but I was glad to learn more about the process (3-year pediatrics residency plus a 2-year genetics fellowship).  Anyway, I digress.

Fast forward to last fall, when we registered for Immersion Phase courses.  At this point, I was still pretty clearly divided between psych and peds.  But I knew that no matter when or what I decided, I would take the peds genetics elective.

On this elective, I saw patients with genetics counselors and attending physicians during their normal clinic days and times.  Most of the time I shadowed the providers and interacted with our patients and their siblings, but sometimes they had me take the lead on getting the patient’s history, performing the physical exam, or even drawing out a pedigree to glean more information about family history (we learned some of the basics of pedigrees in school, but they are a lot harder to draw than they look). When I first started taking on roles in clinic, I spent lengthy amounts of time with the patients and probably slowed things down quite a bit, but I think I started to get faster in the last few days.

The best thing about this month was the fact that I got to meet patients with diseases I’d previously only read about.  One such disease is Lesch-Nyhan Syndrome, whose features–abnormal muscle tone, self-injurious behavior such as biting the hands, sometimes even gout and arthritis–are due to a defective protein  that causes the body to not be able to recycle the building blocks of DNA.  The hand-biting can get so bad that most people with this disease have to get their teeth extracted to prevent permanent damage.  The patient we saw in clinic with Lesch Nyhan Syndrome was at the point where tooth extraction was part of the discussion.  I was asked to do a 30 minute presentation during the month, and I chose to talk about this particular patient both because I remembered this disease from my Step 1 studying days and because it sort of relates to psychiatry.  I can send any of you my presentation slides if you’re interested, but I’ll warn you that it might be better as a cure for insomnia than as an educational tool.

Learning about the tests available to facilitate diagnosis was also quite exciting. The field has made many advances, even in the past few years.  Some patients we saw were return patients from a couple of years ago, who had been told at that time to come back when a new test might be available to help them.  We were able to then offer those new tests in an effort to find a genetic cause of their symptoms and come up with a more concrete plan for long-term management.  Some insurance plans, such as TennCare, are also expanding their coverage for some tests.  I hope to be able to follow some of the patients that I saw, just to see if their test results reveal any answers a few months down the road.

In addition, there are a number of research opportunities for individuals with diseases that are likely genetic but poorly understood at this time.  One such opportunity that was recently introduced to Vanderbilt is the Undiagnosed Disease Network (UDN). The providers I worked with often recommended patients to this program when all of the genetic testing that had been done for them to date was not able to give a definitive diagnostic answer.  The idea at that point is that there may be new genes that have some as yet unknown role in known genetic disorders, or that patients may be presenting with genetic disorders that the scientific community has not discovered or studied yet.  UDN’s job is to help fill in some of the knowledge gaps that currently exist.  I hope that I am able to keep up with UDN proceedings somehow, because it is an exciting opportunity for Vanderbilt and the patients the institution serves.

In addition to the genetics elective, I also took a section on medical error and coping with making mistakes, something that I will invariably have to deal with when I am a physician despite having thought only a very small amount about it now.  And I took an “advanced communications” course, in which we learned how to provide care that seeks to meet patients where they are in terms of cultural background, level of education, degree of comfort with the clinical environment, and other factors.  We completed several assignments for this course, which included giving patients a “math test” of sorts to determine health literacy as well as rewriting a medical document to be at a 5th grade reading level (it is definitely as hard as it sounds).

All in all, this month included a lot of lost sleep preparing for clinics and pulling together presentations as well as a lot of moving parts during the day.  But despite the logistical hiccups I complained about on occasion, I can truly say that this class allowed me to see some aspects of medicine that I would not be able to experience otherwise.  I’m not going to be a medical geneticist, but my work as a psychiatrist will likely require some level of understanding of the genetic contribution to disease, as it is known that family history plays a huge role in many aspects of patient care in that specialty. 

Other things that happened this month: my mom came up for part of Mother’s Day weekend to spend time with my relatives.  I’ve started going back to church on Wednesay nights, and despite the fact that I go to bed a little later on those nights, I know for sure that this sacrifice is well worth it, as I have begun to connect to a community that I love and appreciate and that I feel appreciated me.  The “bible study girls” in my med school class resumed our monthly potlucks this month, which are always quite refreshing evenings of fellowship.  And my class held Parent Weekend this weekend, during which families were afforded a glimpse of what life is like for us students, including tours of the hospitals, suturing and knot-tying practice, and–an old favorite–organ recital, where we used to stand in a circle and pass pathological specimens around to learn what disease processes actually look like in the body.

Actually, we are on our way back to Memphis now.  I am taking my next month “off” to study for Step 2 CK, the next part of “the boards.”  I take it on 6/17 (prayers please); I’m a little nervous, but it will be good to go home for a while to study since I haven’t been back in almost 5 months.  In addition, the week after I take the test, I am going to Detroit with my church for the National Baptist Congress of Christian Education.  Before I head back to school, I’ll hopefully have time to attempt to get my driver’s license, figure out where I want to apply to residency (since that’s the question everyone, including myself, has been asking of late), and write my personal statement.  Nashville, I’ll see you in July!

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