Edinburgh Cancer Research

Shining a light on genetic disorders

The importance of the Patient Voice: February 2019

Rare disease day logo

The quality of MRC IGMM research and the potential to maximise its impact depends upon building and maintaining successful partnerships with multiple partners and stakeholders, including patients, NHS clinicians and policy makers. Families affected by genetic disorders rely on research to understand disease and improve their health and quality of life.

This inaugural seminar for all IGMM staff and students, prior to Rare Disease Day, recognised that patients and their families are at the heart of IGMM research.

Professor Margaret Frame, IGMM Director, hosted this event attended by patient advocates for the rare genetic disorders Primary ciliary dyskinesia (PCD) and Annie’s syndrome, as well the Genetic Alliance UK. Dr Pleasantine Mill, HGU Research Group Leader, along with Dr Peter Tennant, Postdoctoral Scientist and Daniel Dodds, PhD Student from her research group, provided fascinating updates on their research on PCD. Dr Jamie Campbell, Clinical Fellow and Kathy Williamson, Research Fellow from David FitzPatrick’s Research Group, presented excellent overviews of their work on rare genetic conditions.

At the IGMM Seminar, the patient advocates for genetic disorders shared the diagnostic journeys that their families have been on and how dialogue with clinical researchers at the IGMM has driven biomedical research and clinical impact.



Dr Susanne Shanks presented “Living with a rare genetic condition – a mother’s perspective on PCD”. Susanne is from Germany but lives in Stirling and her second daughter, 11 year old Julia has Primary ciliary dyskinesia (PCD). As a result Susi has become actively involved in PCD Support Groups in Scotland, the UK and Germany and a Patient Advisory Group. Julia came along to the event and everyone was charmed by her curiosity and bubbly personality.

Susanne described how Julia at only a few days old “sounded as if she was a heavy smoker, with constantly laboured breathing and wheezy, rattling coughs” but it wasn’t until Julia was 4½ years old that she was finally diagnosed in the Royal Brompton Hospital, London. “By the time we headed south to London for the PCD test, we were getting rather desperate to have a condition diagnosed.” “The emotional turmoil of those first few weeks of Julia’s life is still with us and therefore her birthday is always one of mixed emotions for us… the sense of hopelessness, sadness, vulnerability and dependency on others”.

Susi described “our experience so far is that whilst it is possible to adapt to living with a long-term condition, it is very difficult to balance this with family and working life - as soon as other problems such as acute illness compete with the time-consuming ongoing treatment of PCD”. Susi concluded by highlighting the importance of support groups for accessing information, services and networking events. “The biggest achievement of the PCD Family Support Group UK is securing NHS funding for extending paediatric care into adult care… within just four English centres” and the hope is to extend this into Scotland.

Sophie Dow has a 28 year old daughter, Annie, with ‘Annie’s syndrome’, a unique chromosome deletion that was identified in 2007 by Professor David FitzPatrick, MRC HGU. Sophie’s recently published genetic detective novel ‘When life doesn't follow script’ is about this diagnostic journey and is currently being translated from Swedish into English. Sophie described how when Annie was born she was perfect, with two very big, big toes but “it was her other worldliness (her slightly sleepy consciousness) that got my alarm bells ringing.” By the time Annie was three, she was neither walking nor talking and they began their “long hunt for a diagnosis that was to take thirteen years!”

“We didn’t know that then - and a lot of acquired insight, wisdom and understanding has been gained along the way – but also a lot of anger, frustration, despair, bewilderment and emotional exhaustion has been expended along the way.” In 1994, when Annie 3 years old, she was diagnosed as being mentally handicapped but no further information was provided and after pushing for a more detailed diagnosis, when Annie was 6, they were told that brain damage had occurred during pregnancy but no further medical support was provided. “I remember standing outside the Sick Kids afterwards - my inner compass wildly spinning without a north, south, east or west. Where do we turn to now?  What do we do now?  And really – will she die from her brain damage? They hadn’t told us that.”  That diagnosis was not specific enough “for us to know what to do and how best to help and support Annie.”

“That moment – the complete lack of information and support after such a fundamental diagnosis became the reason why I decided to change the world and set up The Salvesen Mindroom Centre in 2000.” In 2003, the Swedish Psychologist, Professor Christopher Gillberg, assessed Annie and suggested that there may be some form of chromosome fault and recommended at Sophie contact Professor David FitzPatrick, MRC HGU.

David found that Annie did not have the genetic conditions ‘catch 22’ or ‘Fish’ or ‘Di George syndrome’ but requested permission to keep Annie’s blood sample to retest when genetic diagnostic screening technology improved. Four years later in July 2007, when Annie was 16, David wrote to them with a diagnosis of a unique chromosome deletion. “It was with mixed feelings I took in the information that arrived without warning on that summer’s day. A day that started just like any other day”. This new technique and a specific diagnosis “for us – and for so many other families, means enlightenment, it means a way forward, it means a sigh of relief, it means knowledge and power.”

“There is nothing mild about Annie’s mild mental handicap. It is fundamental to Annie. It is fundamental to us - her family. And it has fundamentally changed our lives. But, so too has the final diagnosis that David and his team were able to give us. Now we know! And now Annie knows.”

“With Annie’s permission - Christopher Gillberg, David FitzPatrick, Robin and I decided to call Annie’s unique, it is still unique, chromosome deletion ‘Annie’s syndrome’. By naming it after Annie - it would give a more intimate and personal touch to something that is sprung out of a genetic glitch.”

Sophie concluded “As a journalist and writer I was very excited by the discovery. I felt we were right at the heart of a genetic detective novel – but as a mother, I and our family will always be up against a void in Annie’s genome of about 6 million base pairs of DNA. That particular void is irreparable - and perhaps the upside of such an absolute is a blessing - we are spared the hunt for a cure.” “Thank you David – thank you all for helping us expand our personal universe – as well as that of so many other families’ universe-s!”

The seminar closed with Natalie Frankish outlining the important work of the Genetic Alliance UK and describing the annual awareness raising event, Rare Diseases Day.

Sophie and Susanne presented passionately and powerfully and Natalie’s presentation was most informative. All three presentations have had quite an impact on the staff and students that attended and inspired everyone to engage more, and more effectively, with patients.

After the event, Dr Dimitrios Papadopoulos, IGMM Chancellor’s Fellow, tweeted “Rare Genetic Disease Awareness Day at the IGMM event - That is what we do, what we should struggle for, what should make us jump out of bed in the morning to get to work and to stay in the lab till late at night!”


Rare disease day collage