Author Archives: agmcki

D-Day (D for decision, not Normandy) ((by austin))

Most of those of you that are applying for admission into one of the genetic counseling programs for this fall are probably either in the throws of interview season, or are anxiously awaiting responses. 

Decision day can be a day for celebration, a day of disappointment, and for some it can be more stressful than the interview process. That is, if you are one of those lucky applicants that gets an offer from more than one program 🙂

Speaking from my personal experience, I applied to several programs, and only interviewed at one, so I can’t speak on this from personal experience. I can share, looking back, on some things that I’ve found to be very important differences between programs that may help someone who is in limbo make a decision.

1) How is the academic/rotation schedule set up?

Some programs have you start your clinical rotations during the first week of class and you are regularly in the clinic throughout the program, while others start solely with coursework and then pepper in clinic experiences as you progress. Having talked to people from other programs, there doesn’t seem to be a significant difference, but that is something I would not have thought to ask about.

2) Is there appropriate support for students? 

Depending on the size of your program, this may be a legitimate concern. Most programs are small, so your faculty/administrator to student ratio falls closer to the 1:1. However, in programs with more students, this can be a challenge. This is an issue that can be menial for someone who is more self-directed and independent, but can wreak havoc on those who are expecting a more involved experience. 

3) Where is it?

For some people, location is just as important as anything else. Thinking about not only the geographical environment that you’ll be tied to for the next two years, but also the rotation experience that the area has to offer. If you’re looking for a wide variety of experiences from your clinical rotations, you’re probably going to be more satisfied going to a program near New York City where there is a diverse population, rather than South Dakota where the population is fairly homogenous (I can say that because a) they don’t have a program and b) I’m from there 🙂

4) Trust your gut!

You interviewed there. You met the people. You got to check out the campus. Generally in the time that is required to conduct the admission interviews, you can get a pretty good idea for whether a place is a good fit or not. Granted, they’ll all be on their best behavior (as you should be), but in the end, you’ll be spending a lot of time in this place with these people. This is especially helpful if you are making a decision between two programs (not an issue I had to worry too much about).

And remember – you worked hard to get here. If you got into one program, celebrate! If you didn’t get into any programs, take some time to be upset/disappointed/angry, and then make sure to contact the schools you interviewed at and let them know what a pleasure it was to meet with them. I would also strongly recommend that if there was a primary person that you interviewed with, touch base with them to thank them for their time and ask what you can do to make your application stronger for the next year. They will remember that you took rejection (which is something we all get but not everybody can handle) well, and that you’re still very interested in their program. Plus they’re basically telling you what you need to do, so lap it up.

And if you got into more than one program, you got some decisions to make.

Good luck to everyone out there!

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Celebrities!!! ((by Austin))

Throughout the last year and a half, whilst attempting to traverse the sometimes rocky terrain of learning about a wide variety of genetic conditions, my classmates and I have found a way to help remember some of the numerous genetic conditions that we need to know. We, like many other people across the country, have a morbid fascination with celebrities. As our time in classes has gone on, people now regularly bring up any celebrity ties to genetic conditions that come up in our discussions.

I thought I’d share some of the ones that I’ve come across, both in class as well as in my internet searches that I have conducted in an effort to delay schoolwork (hey, we all do it right?). Some of these are well-documented, and some are simply rumored. I will definitely do my best to identify which are which in an attempt to not ruffle any celebrity feathers (as I’m sure Maps and Genes has a substantial Hollywood following). I’ll also post links to articles where I found the information, in case you’re interested in reading more about it.

For reals:

Colin Farrell has a son with Angelman’s syndrome, which is an imprinting disorder that causes seizures, intellectual deficits and frequent laughter or smiling (gracefully dubbed ‘happy puppet syndrome’ by the medical community). He talks a little about his experience in this article:

http://www.dailymail.co.uk/tvshowbiz/article-2233450/Colin-Farrell-opens-year-old-son-James-disabilities.html

Mayim Bialik did got her PhD in Neuroscience and specialized in obsessive-compulsive disorder in adolescents with Prader-Willi syndrome, another imprinting disorder which causes intellectual delay, a ravenous appetite and morbid obesity. She talks briefly about it on her web site:

http://www.mayimbialik.net/bio.html

Gillian Anderson (of X-files fame and more recently seen on TV’s Hannibal) had a brother with Neurofibromatosis Type 1 who passed away at 30 from a brain tumor. One of the main features of NF1 are neurofibromas (tumors) all over the body, which sadly in some cases can be lethal. She discusses this and her work with NF1 charities on her web site:

http://www.gilliananderson.ws/charities/nf.shtml

Missy Elliot, rapper extraordinaire, was diagnosed in 2008 with Grave’s disease, which is an autoimmune disorder that causes over activity of the thyroid. Some common symptoms of Grave’s disease are anxiety, irritability, goiter (enlarged thyroid gland), and bulging eyes. She talks a little about her experience in this interview:

http://www.people.com/people/article/0,,20505206,00.html

John F Kennedy, our 35th president, was diagnosed with Addison’s disease following his election and taking office. Some symptoms of Addison’s disease include fatigue, dizziness, weight loss and changes in mood and personality. It doesn’t take a political analyst to figure out why his administration wanted to keep this under wraps. An article in the LA Times talks a little more about this:

http://articles.latimes.com/2009/sep/05/science/sci-jfk-addisons5

Steve Jobs, the co-founder of Apple (and apparent Ashton Kutcher look-alike), had carcinoid tumors, the type of cancer that ultimately lead to his death. Carcinoid tumors are neuroendocrine tumors that can be benign, or can metastasize. Because they are neuroendocrine tumors, they can also secrete hormones, such as serotonin, which can cause other problems throughout the body. Here’s an article that talks more about carcinoid tumors, and references Jobs:

http://www.miamiherald.com/2013/07/26/3518951/carcinoid-the-tumor-that-killed.html

Atticus Shaffer (Brick from the TV show The Middle) was born with Osteogenesis Imperfecta Type IV, which causes brittle bones. Individuals with OI have bones which are prone to fracture, and often leads to short stature, as well as dental issues. Type IV is a more moderate type, but is variable from person to person. Shaffer talks about life with OI Type IV in this article:

http://www.parade.com/99009/erinhill/atticus-shaffer-the-middle/

Peter Dinklage of Game of Thrones fame was born with achondroplasia, which is a form of short-limb dwarfism. Achondroplasia is one of the more common genetic causes of dwarfism, and occurs more frequently in cases where the dad is older. The technical term for this is advanced paternal age (flattering, right?), and there isn’t a widely agreed-upon age where this kicks in. This page has some quotes from Dinklage talking about his experience growing up with achondroplasia:

http://www.biography.com/people/peter-dinklage-20787107

Verne Troyer (Mini Me from Austin Powers) was born with Cartilage-Hair Hypoplasia Dwarfism (probably). I’m putting this one under ‘for reals’ because Troyer clearly has some type of short stature, and most of the articles I’ve come by listed it as CHHD, although none of them involve interviews with him or a conclusive diagnosis. This article is the *most* reliable one I found:

http://www.debate.org/reference/verne-troyer

Venus Williams, American tennis superstar, was diagnosed in 2011 with Sjogren’s disease, an immune-system disorder that causes dry eyes, dry mouth and pain, swelling and stiffness of the joints. Williams talks in this article about how she manages the symptoms, but the illness did eventually lead to her retirement from professional tennis:

http://www.mnn.com/health/fitness-well-being/blogs/venus-williams-opens-up-on-her-battle-with-sjogrens-syndrome

Bernie Mac, who was a comedian and had his own TV show, had a condition called Sarcoidosis, which is an immune condition that causes inflammation in various tissues of the body and can predispose to certain types of cancers. Mac struggled with this condition for years and it contributed to his death in 2008. He started a Sarcoidosis foundation with a lot of information here:

http://berniemacfoundation.org

Probs for reals, but thus far just speculation:

Tom Cruise was rumored to have been born with holoprosencephaly, a condition that can cause the brain to be unable to divide correctly into two lobes. Speculation began with photos that appeared to show a younger Cruise with a centrally-spaced front incisor, which is a hallmark feature of holoprosencephaly. Some have hypothesized that this could be an explanation for his rumored fertility problems, as well as his sometimes erratic behavior (see: Oprah interview). Here’s the blog post that brought this to my attention; judge for yourself:

https://whyweprotest.net/community/threads/tom-cruises-teeth-does-tc-have-holoprosencephaly.58432/

Abraham Lincoln has long been rumored to have a genetic condition, largely because of his abnormally tall stature. The most prevailing theory is that Lincoln had Marfan’s syndrome, a genetic condition that causes tall stature, long spider-like fingers, and can predispose to vision or heart problems. Here’s an article that explores the evidence:

http://www.nature.com/news/2007/071130/full/news.2007.226.html

Jamie Lee Curtis has long been rumored (and again never been confirmed to have) some sort of gonadal disorder. The most common thing I’ve seen thrown around on articles I’ve looked at is ‘hemaphrodite’, which is not only an outdated term, but not very accurate. The prevailing theory among celebrity conspiracy theorists is that the actress has Androgen Insensitivity syndrome. Individuals with AIS are chromosomally male (XY), but are phenotypically female. Women with AIS would be infertile (seemingly the majority of the ‘evidence’ that Curtis has this – her two children are adopted), and would not menstruate. The Curtis camp has done a pretty good job at keeping a lid on this honey pot, but here’s an article from, appropriately, urbanlegends.com, that addresses this:

http://urbanlegends.about.com/od/jamieleecurtis/a/jamieleecurtis.htm

Ceelo Green allegedly was born with hypochondroplasia, which is a less severe form of achondroplasia (see: Peter Dinklage). Although not confirmed, his height and the proportion of his limbs along with his facial features suggest this less common type of dwarfism. Again, not a super reliable source, but they make a good case:

http://twelvethingsyoudontknowaboutme.blogspot.com/2012/05/celebrity-dysmorphology.html

That’s all for now – Happy Holidays everyone!

And just when you thought it was almost over… ((by austin))

Hi everyone! I’ve been brainstorming what to tackle for my first blog post, and I’ve come to the conclusion that my mantra this year has thus far been: And just when you thought it was over…

From what I had heard from previous students, your second year was much easier than the first. Now don’t get me wrong – they’re totally right (although this is, of course, subjective). I think I may have just taken more than a little liberty into interpreting what ‘easier’ meant, which is perhaps my expectations for this year were so off the mark.

The first year of the program (our program anyway) is very coursework-heavy. Lots of presentations, tests, studying until the wee hours of the morning, all that fun stuff. I personally found it to be quite challenging, but am continually surprised at how much one can actually learn in nine short months. I went into my second year with (perhaps unreasonable) expectations that it was smooth sailing until May. I hate to tell ya folks, but it ain’t happenin.

Group projects and 3 hour tests have morphed into research for clinical rotations and a thesis project (gasp!). It has been a good change of pace, and it really is a much more manageable workload. I would just make sure not to subscribe to the procrastinator’s club (like I seem to have unwittingly done at some point during the summer).

From my perspective, this shift has been a helpful progression into the final stretch of our training. Being able to be more focused on clinic rotations, where we’re getting more of the (in my opinion) most valuable part of the training, has really helped to visualize what it is going to be like traversing the waters of genetic counseling as an actual genetic counselor rather than an overly eager student. You also get to take part in more of the nitty gritty things (chart notes, following up on tests, etc.) that you don’t usually see that much in the first year, which is helpful to get a full picture of what a potential job may look like.

The thesis project is daunting, mostly because of its vast nature. You get to spend about a year working very closely on a topic you pick and are (hopefully) passionate about. With that comes the very real chance to be able to contribute something outstanding to the profession at such an early stage of one’s career, which is an amazing opportunity. Just choose your topic wisely, because you’ll be spending more time with it than your friends and family combined.

Despite how this post started, I feel I should clarify that I’m not upset and I shouldn’t be surprised. The fact that I was shocked by how busy the second year is was based more on my wishful interpretation that in the second year all you had to do is go to clinic. Again, nobody told me that – I just seemed to have worked it out in my head that way (blatant continual misinterpretation – it’s a gift!). The pace and the work this year has been a much-needed reprieve from the intensity of the first year, but it’s still challenging. Just in a much different way. And two years of pushing yourself to take the most that you can away from this experience is hopefully what we all signed up for.

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