Clinical genetics

I was attached to the clinical genetics department for three weeks before the Christmas holiday. The department deals with genetic referrals for the north west of England. I sensed that it was rather academic and research based. I have never been in one department with so many professors before.

I enjoyed the non-medical side of things more than the medical. Contrary to my expectations, there were quite a lot of 'touchy-feely' issues to think about. We human always long to know the future. Advances in genetic testing have now paved the way to knowing the future. Little do we naive human realize that sometimes knowing (or even given the choice of knowing) is so much more tormenting than not knowing.

For example: for a couple has a child who has Duchenne muscular dystrophy (DMD) and have cared for and watched him wheelchair bound by the age of 10, prenatal testing seems to be the logical option for any subsequent pregnancies. But what if the next baby in the womb has the disease? They have brought up the elder son despite his ill health, so is it fair to kill off their unborn child without giving it a chance to be born? If they keep the pregnancy and currently with no cure for DMD, can you imagine life for the parents and the child at the younger age before the disease starts to appear, playing the waiting game?

This is only a simple case of genetic condition with complete penetrance. (I.e. if you are tested positive = you will get the disease at some point). What about those tests that cannot predict a disease with certainty? If you have four family members who died from bowel cancer, and you have been tested positive for a gene that increases your chance of getting the bowel cancer (but you won't necessarily get it 100%), would you take a gamble and get on with life as usual? Or would you play it safe by mean of a major operation to remove your bowel and live with a stoma for the rest of your life?

Perhaps I have not described it eloquently enough for you to gauge the complexity. Medical student would have come across these issues in the course. Yet honestly, informing real people their fate and then leaving them with life and death choices to make did stir my emotions up a little more than the books and the lectures. There are guiding principals but there is never right or wrong answer in these dilemmas. Another thing I like about genetics is that every patient or family is treated so individually. The typical appointment is 45 minutes personalized consultation, giving long enough time for the professionals and the patients to talk through any issues. Every patient is allocated to a genetic counsellor whom they can contact anytime. The doctors and counsellors often know the patients really well as a result.

Clinical genetic is entirely outpatient based, with very decent working hours. Other than taking blood pressure, drawing the odd family trees and playing with the children, there was really nothing else hands on to do. Many of the referrals included odd looking children with some physical or learning disabilities seeking for a diagnosis. I sometimes wonder if they are necessary. I have worked with disabled children and adults before and there must be loads of them out there with these odd looks without a specific label, and they still live a normal life. Is it that important to 'find' the microdeletion or tranlocation or subtle mutation responsible for the child's short statue+small head+slanted eyes+curly hair+delayed speech development, when the most important thing is to get the best support for the child to grow up as normally as possible? These syndromic diagnoses often have no cure or treatment for these syndromes anyway. I understand that sometimes a disease label can help the patient and the family cope better, and sometimes to advise on future pregnancies. But if the syndrome is not too severe, what difference does it make whether the cause is found or not? I do think that geneticists are sometimes carried away by their own curiosities and try too hard to pin down syndromes to genetic causes. We are all different because of our different genetic make up, and all of us have faults in our gene, that’s why none of us are perfect. While these odd looking, slightly disabled children might have more and worse faults in their genes than us, it is still what make them unique in the same way they make each of us uniquely special.

I finished the attachment feeling that I haven’t learnt much. However in hindsight, I have seen a few more prevalent rare conditions like Marfan’s, NF1, CMT. And as you can tell from this blog entry, it has been a very thought provoking experience overall. Would I become a geneticist? I don't think so - endless thinking and I would get too many headaches.


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Today is a sad day.

It's result day. I managed just a pass. I don't understand. Especially the 3/7 in the psychiatry history station. I have been getting 3-4/7 for all the history stations for the past three OSCEs now. I don't know what was wrong. I was sure I asked all the necessary questions. Perhaps the examiners think I was being too nice to the patient - I do have a tendency to do that and I don't think I'm sorry for that. I have spoken to one of my tutor about this but she thought I was fine as far as real life practical medicine is concerned. I'll probably email her again after christmas. Overall I'm upset about the result eventhough I promised myself on exam day that I'd be only too happy to just pass.

I have just finished a 3500 words essay - spent about 3 nights awake writing it. I couldn't do it over the weekend as I was too busy. Sitting beside me, my supervisor spent about 5 minutes reading through the 3500 words, and gave me an above average. It's not that I'm not pleased about the results - it's just that I thought she would be a little more detailed in her assessment. It made me wonder what was the point of fussing about the whole night making sure everything is perfect.

Now I'm free. Will write more over the weekend. About chorus, and about clinical genetics.


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The attention and concentration part of my mental state is very poor. Must be those rubbish food that I have been eating for the last few weeks. Why does this always happen when I have a million things to do?


Do not despair. Everything will be over by Friday.


No it won't. I hate christmas. Like many psychiatric patient, I find it a difficult time of the year to cope. My heavy workload and busy schedule are discontinued all of the sudden. What am I to do? There is no one to talk to. It's too cold to go out, and what for anyway?


Back to the essay. May come back and whine again later.


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I hate people who want to be right all the time. Unfortunately it's very common among Malaysian, especially those with Y chromosomes. So frustrating talking to people like that - don't they realise that each time I talk to them, I don't want an argument, or indeed to expect any opinion from them? I find these people often exceptionally egocentric. No one else in the world matter other than himself. Why don't you go and live in your little island by yourself? That will do the world a lot of good because NO ONE IS PLEASED WITH YOUR PRESENCE HERE!!!!!

Stresses of the week

Another week with constant rush of adrenaline am afraid. Will not bore you with every single details. Am waking up with morning headache almost every day, accompanied by blurred vision and poor balance. Am very deprived of sleep at the moment, so will try increase my sleep and see if the symptoms disappear.

Four things which stressed me out this week:

1. CB cake sale
We did it last year but I did not bake anything (I just manned the stall for the whole day). This time, I contributed some baking. Went to two supermarkets to get the necessary ingredients. Slept for two hours and spent the rest of the early morning baking. Headache was awful, I prefer not to do that again. But am so flattered that they sold out!

2. SSC
I planned to do something paediatric related but did not have enough opportunities to sit in the relevant clinic. Felt panic by Tuesday. Now have decided to do medullary thyroid cancer. Kind of glad that my supervisor is not the expert of the experts in this disease. However she is going to ask one of the other consultant who specialises in cancer genetics and had written books on it to read through my essay - very very intimidating.

3. Project option
My supervisor is lovely, but she is not very good at replying email. I emailed her since last month to remind her that the deadline for title submission will be next Monday, to which I received no reply. Understandably I was getting extremely anxious, risking failing the component and having to repeat fourth year when the project option hasn't even started (not until May 2009), as the guideline clearly states 'student's responsibility: to register a project option title by 15th December 08'. Fortunately this time I guess she gathered the sense of urgency and replied me straight away. So now it's sorted. Relief!

4. Chorus
The concerts are this weekend! I'm so excited! Will be performing at the front row as there were no seat left at the rows behind by the time I arrived for rehearsal on Thursday. Stressed because am not very confident with the sitting and standing, as well as some singing, especially the beginning of a new chorus without having some singers in front of me to ensure that I am indeed doing the right thing. Our conductor always say make mistake confidently, and I've always done so without feeling too embarrassed. But I can't do that in a concert. Imagine, suddenly standing up at a wrong time with everyone else still sitting and having the audience wonder what is my problem... Nevertheless, really looking forward to it. It felt amazing singing with a full orchestra, in the magnificent whitworth hall.


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Adrenaline flood

Last week, I was bordering the state of manic following the frantic revision for OSCE, meeting my family and fighting my way across London (along with six people from Malaysia) and back to Manchester. Good old adrenaline kept me going.

OSCE was on Thursday, testing our competence on neurology, psychiatry, orthopaedics and rheumatology. Almost none of the pathological signs and symptoms I spent hours upon hours revising came out. Instead we were tested mostly on basic history and examination skills, which was fair enough I suppose. To me this seems a little foolish, but it would be more foolish of me not to practise the examination sequence to a certain level of slickness. The majority of the stations are what I call (monkey) skill demonstration, a performance of a polished and well rehearsed routine. I don't think we have to even mention the obvious abnormality to pass. It was not easy for me because when I examine a patient, I'd like to do it thoroughly, in a practical way (eg I would not percuss and auscultate the thyroid routinely in real life, so why should I remember to do it to a healthy volunteer in an exam?). Nevertheless I thought it was a well organised and fair exam. There wasn't anything that I didn't know. I did a few silly mistakes, but hopefully I have compensated by doing well enough in the other stations. The residual adrenaline left me feeling high for the rest of the day.

On the evening, I met my family in London. I was so thrilled to meet them. We spent the next few days touring London and some other places. Mum was rather skeptical about the idea of wandering around the intimidating streets of London without any tour guide with arranged itineraries, but I managed to convince her that I'm perfectly capable of being their guide. In two days, we managed to visit the British Museum and Greenwich, watch a west end theatre and a Pantomime, experience the London underground and bus services. Mum even had time to very briefly see the place that she used to live in 30 odd years ago. A very expensive trip though, I must say. But we all enjoyed everything, apart from the freezing temperature. The weekend was like The Amazing Race. Two days + seven people and I have not managed to lose one of them, what a feat! On the last day before parting, we went to my mum's friend's house. She was so kind to accommodate us and to cook us a Christmas dinner. My first sister had a wee bit too much alcohol and spilled out some secret that my mum never knew...

The return trip back to Manchester was a memorable one. I had to change train at a little place called Wolverhampton. I arrived there at 1:30am and the train to Manchester was not until 6:21am. By the time I arrived at Wolverhampton by bus replacement service, the train station was closed. So I had to wait at a bus stand. I was freezing (I am pretty sure that temperature then was well below 0. So I devised various ways to keep warm, which included pacing around and lifting weights using my luggage. I felt vulnerable, there was a taxi driver who offered to drive me to a hotel free of charge. In short, I was an exhausted, sleepy young lady carrying valuables alone in the middle of no-where trying hard to fight off the bitter cold for nearly five hours. A worker at the bus stand sympathised me and gave me a cup of tea and a pack of crisp (I probably shouldn't even have accepted that). I was and am still crossed with the train company for selling that sort of ticket (which wasn't cheap by the way) and not providing a safe and comfortable waiting area for their customers and I intend to complain.

Eventhough the weekend did not go as smoothly as I expected, spending time with my family can only be the best post-exam reward for me. The only thing left to say is I was proud that I managed to stay awake and focused for the next day for my first day placement in clinical genetics. Thanks to the left over adrenaline again from the night before, no doubt.


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