Increased prevalence of 22q

My current project about information seeking in 22q11.2 Deletion Syndrome families means that I am constantly with ears pricked for any new article or news.

As many parents and support group representatives have told me, it is only a matter of time before someone realises that 22q is more common than people are saying. 22qIreland tell me that although part of the Rare diseases group, this might not be the case for long.

Sure enough, a study into microdeletions and microduplications (small additions/deletions of DNA) in prenatal cases revealed 1 in 992 pregnancies have the 22q11.2 DS. This is different to the 1 in 2,000-4,000 I have quoted in my literature review!

Will this change things? I doubt it. The condition is so complex that although finding it isn’t rare allegedly, the combinations of issues are plenty and one child is not similar to another. This means that GPs will not know the sure signs that could help make diagnosis easier. The information around 22q can fill up volumes of management criteria that GPs may just have no time to read. As a parent told me, 22q can often be invisible, which adds to the difficulty in assessing.

So although the prevalence shows an increase, I think it will be a long way before the condition is treated like Down Syndrome, and the awareness is similar. But this is a step in the right direction, at least that is what the support group thinks. However, do not remove it off the rare diseases spectrum yet. Like many other rare diseases, the difficulties faced are similar – lack of knowledge and experience with the condition, parents are blaming for their child’s behaviour, difficulty in obtaining school support, and they still miss out on strength in numbers, finding communities only in an online environment.


This is why they are so inspirational to me!


Colourful and confusing coding

This is the first time I am attempting to work with qualitative data and I must say it is quite an experience. My supervisor is a queen and I have enjoyed meeting her and listening to her advice. Qualitative analysis is one of the things I think which you can never really learn about from lectures. Since every person’s data is different, extracting meaningful findings (finding never results!) is a personal experience. Looking through other people’s thorough work is helpful and I’ve used Bruan and Clarke as the Bible as well as looking at my supervisor’s previous work.

I have chosen Thematic analysis as a means of looking at my data and I love it. It seems to me to be a game a puzzle. These youtube videos have helped loads but mostly are these highlighters and fluorescent stars. Nothing like colour to highlight to beauty of people’s lived experiences. Can’t waiting to start piecing things together!coding

O.C.D – When is it a problem?

Today marks the last day of OCD Awareness week. Obsessive compulsive disorders. I call Emanuel, my sister and myself OCD all the time, but our OCD doesn’t control our lives. As I’ve grown older I’ve realised my tendencies to be OCD have increased, but that is what living with a perfectionist (sister) and artist (boyfriend) does to you I guess. I always wondered though, when will it be a problem? When do you diagnose OCD?

OCD is based on two principles: the obsessive thoughts and the compulsive action that aims to regulate these thoughts. One thinks of Jack Nicholson in As Good as It Gets.

Thoughts and images tend to be related to hygiene, or harm to oneself or others. Most sufferers find the images that plague them disturbing and to a degree know that they are unreasonable. However, they develop routines, and other compulsive behaviour to control the images. Hence the incessant washing of hands. In the case of the turning on and off the lights etc, sufferers believe these rituals are protective. The moment it becomes an issue is when the anxiety, and therefore the matching routine begins to interfere with one’s life. Some people have lost jobs, families and even their own sanity to the condition.

I have become a bit more sensitive to using the word. Using the word ‘obsessed’ to describe a love for One Direction, Juventus or Rugby, as well as using OCD to explain a habit may often trivialize it for many real sufferers around the world.

If you are interested in reading more about OCD or the research involved, click here.


Facts and myths of Genetic counselling


Did you know that heatwaves in London are followed by beautiful colourful thunderstorms. The pictures of lightning over London sights are lovely! The call is a Spanish Plume, because the heat is still pretty intense.

I’m more than half way through and I wrote a lot less than I intended to in this blog. Goes to show that I was so absorbed in my learning, and preparing my ethics application for my research project that this just hasn’t had time to be written.

Every day I learn a bit more what it means to be a genetic counsellor. And every day I like it more and more. A typical day in the life of a GC doesn’t come very often. The days are ever changing, and within the NHS guidelines and research always make changes in routines. Typical GC clinics range from predictive BRCA meetings (which have become more common after Angelina Jolie’s announcement), to stressful rapid access meetings that have been scheduled last meeting to deal with pre-natals. The pyschological implications of genetic testing cannot be hidden in any appointment which is why the skills we learn are essential. It becomes so real as it takes the form of a patient’s life and future journey. You cannot un learn genetic information, not can you change the genes you have inherited (yet).

Fact: The counselling aspect is integral

This is why it is part of the job description. Although there is no warrant (working on it), there is a strict registration board for genetic counsellors. This is because the skills of a registered genetic counsellor puts into play a number of counselling aspects as well as communication aspects. Did you know it was international law for someone wanting a predictive Huntington’s genetic test, to have at least two appointments before having the test. It is important for the person to undergo a thorough self-investigation of the pros and cons of the test, ensuring that their own personal decision makes the pros outweigh the cons. All genetic counsellors are very protective of their HD families and this shows the strong bond GCs form with these patients.

Myth: GCs are behind a strong eugenics movement

Anyone who has experienced a appointment with a registered genetic counsellor will tell you that this is not the case. GCs are essential to the education and support of families with any genetic condition. The approach of a GC is non directive and especially nowadays with cancer, the aim is to ensure people have measures in place to protect them and to make informed decision. Apart from non directiveness, GCs are realistic and supportive. The non-judgemental space provided gives families the environment they need to make some really tough choices. Do not judge is the old age adage that form one of the competencies of a Genetic counsellor today.

One year done. Part 2 : The Course

Genetic counselling to me was something novel. On entering my first lecture, I was filled with trepidation, wondering whether the course was going to be what I was expecting. This is because Malta must be one of the few places in Europe where Genetic Counselling does not occur yet. Therefore my only experience of genetic counselling was from research (and lots of it!).

I was never happier, then after the first two days of lectures, doing my first family tree and listening to genetic counsellors. As time went on I not only confirmed that this was what I wanted to do, but realised it was imperative and an essential role in today’s health care system. Doubtless times I felt myself frustrated at the lack of resources in Malta in the field of genetics, although I’m sure they will be implemented in the next few years. You cannot have a genetic counsellor without the appropriate backing and support, from pre-natal testing, to appropriate screening guidelines to the most basic laboratory to carry out genetic testing. The team needs to work together for greater care and most importantly for Malta, provision of unbiased education.

The course was a breath of fresh air. This, at least, I had no doubt about. The most shocking thing for me was addressing the two course coordinators as Marion and Angus. Two BIG names in genetic counselling history and implementation and they refused to be called Profs. or even addressed by their surname. They laugh at me now when I tell them how different the situation is in Malta – when you wouldn’t get a reply to your question unless you addressed them as Profs./Doctor. The atmosphere is so comfortable with them, especially during tutorial, an hour a week they dedicate to discussion, feedback and general advice. I do not know if this is due to being a small tight-knit course, and being a post-graduate, but the fact that they know so much about me, makes me feel that my opinion, and my thoughts count for something.

My supervisor is another amazing woman who has supported me so much already, calling with advice and to check my general progress. And this with me having hardly even started! Having a busy schedule hasn’t stopped her from being there whenever I called and I am looking forward to meeting her and making her proud too!

Last but not least, being in a group of ten people means that you form a little community. Every one of us on the course is different, and we are from all over the world. This does not stop us from getting along, organising events out together and generally sharing anecdotes with each other on our Facebook group! Now as we separate to take part in our different placements, I know we will keep in touch and offer support for each other during our practice! Looking forward to seeing them all next year!

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The Future is Genetics

I am not your typical geek but there is something about science, and particularly about genetics that excites me. I have always felt that Genetics is going to be big, and back at my first University it was unfortunately given almost nil importance. Understandably, because to make genetics exciting you need to be researching it and there is just not that amount of funding in Malta.

Here however, genetics is big and the buildings dedicated to Genetics even bigger. In Cardiff one of the top research fields is Psychiatric Genetics. Believe me, the stuff they discover on a day to day basis is enough to blow anyone away. The beautiful thing is the potential of this research. You can sense that in a couple of years this is not only going to be tangible, but clinically accessible.

Just to give you an idea of the brilliance of genetics here are things that happened this past week alone.

1. New technology can build mug shots from DNA. This means that DNA has just made forensics easier and justice that little bit fairer. Although this is far from accurate, Chinese researchers are getting closer to identifying over 20,000 different face features via genetics.

2. Yeast Chromosome.  The picture below (from shows how scientists (some undergraduate students among them, imagine that!) have made up a completely synthetic yeast chromosome. The implications for this in the field of agriculture for starters are huge (unless you’re anti GMO) – we’re basically building a genome!

3. Down Syndrome changes. I proceed here with caution. Experiments on Mice (not humans) have reversed short-term memory loss by stimulating the cerebellum. This has huge implications for the way we consider how memory works in people with Down Syndrome. The fact that someone is researching this – an area people had always considered a mystery and ‘incurable’ is already a way forward – a positive one.

Until next time!