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Asked by anon-255303 to Alice on 19 May 2020.
Question: What is the weirdest symptoms you have identified?
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Alice Burleigh answered on 19 May 2020:
Hi Harrison! It is not my job to look at the symptoms, this is what medical doctors do! Knowing the symptoms of a patient is often very helpful though, as we can use it alongside the patient’s genetic information to try and diagnose them correctly. Rare diseases are particularly hard to diagnose as they often present with lots of symptoms, and some of them can be very subtle. For example, if you had a dry mouth one week, then a month later had trouble sleeping, then the month after than got a small rash on your arms, you might not connect these symptoms together, and neither might your doctor! Doing genetic testing helps identify the correct disease, and also link patients together who have the same disease, even though their symptoms might differ from one another.
Comments
Alena commented on :
You know Harrison, it’s really funny that though we are not medics, as biologists we are deemed to knwo all sorts of stuff… all the way from ‘what tree is that’ to ‘I have this lump…’ but actually, since we study cellular processes we can sometimes think about the cause of a particular symptom. One totally un-glamorous is actually trapped wind, it can cause acute really uncomfortable pain, specially in the abdomed and a good test is to lie down and change from side to side to move the air bubble as it were until it finds its way out.
Alex commented on :
Hi Harrison, I used to work in clinical trials, which is where medicines are tested on people to make sure they’re safe and work before they are allowed to be given out by doctors. This is the closest I’ve ever got to having to think about symptoms, because like a lot of us in this zone I work in a lab now.
I do, however, have some funny stories from when I worked in clinical trials. So part of my job was to write up any side effects our volunteers report – and usually it was things like feeling faint or sick or not sleeping well. However, one day I was writing up some notes and someone had reported that they had a “throbbing bottom”… which isn’t something I had 1. ever seen reported before or 2. ever expected to see reported! After having a little giggle and trying to work out how a medicine could cause that I wrote it up and moved on. Then the next day I was writing up notes again, and the “throbbing bottom” was now a “really throbbing bottom”! I think my bottom would already have to be really hurting before I telling people in case it was embarassing, so who knows how bad it must be now! So I tell the main nurse in charge of the clinic so she can go and speak to the volunteer and hopefully sort out the problem… turns out there wasn’t anything wrong with his bottom or the medicine at all!! There was a lump on his mattress right where his bum was that made him sleep funny and cause his bottom to throb!