A Staffordshire mother has praised a new life-saving genetic testing service launched at University Hospitals of North Midlands NHS Trust (UHNM) after it revealed she and her eight-year-old daughter Amber have a potentially life-threatening heart condition.
Katie Cox, of Stafford, was offered genetic testing after a conversation with her long-lost brother raised the possibility of a family health issue. Mother and daughter underwent genetic testing at County Hospital in Stafford and both were diagnosed with ‘Long QT syndrome’, a condition which can lead to an abnormal heart rhythm and cardiac arrest.
Patients throughout Staffordshire and Stoke-on-Trent can now undergo potentially life-saving genetic testing for Inherited Cardiac Conditions (ICCs) thanks to the new service. ICCs are a group of potentially fatal disorders which affect the heart muscle, heart rhythm and aorta and can be passed on in families.
Katie’s eight-year-old twins Anthony and Amber were both tested. Anthony tested negative, but Amber, who already has a defective heart valve, has now also been diagnosed with Long QT syndrome.
Katie said: “We knew there was a 50/50 chance the heart condition would be passed on and while it’s not good that Amber has it, it’s great that she can receive treatment. There are even things that can be done to ensure the defect isn’t passed on to her children in the future.”
Katie first found out about the potential issue after she talked to her brother Jason.
Katie continued: “We talked about the fact that Jason had the syndrome, but I didn’t really think about it too much. There were so many other things to talk about! I did have palpitations sometimes, but I always put these down to stress. For about a year after we met I carried on as normal, but then the palpitations started to get worse and I began to experience a bit of dizziness. I went to my GP and was referred to the hospital, where I was offered genetic testing. I decided to go ahead with it and I’m so glad I did. I’m now on medication which helps to alleviate the symptoms.”
Katie and her family have been busy raising funds for a defibrillator which has now been installed at Amber’s school Silkmore Primary Academy with the help of charity AED Donate.
Katie said: “Some people might be hesitant to go ahead with the testing because they’re worried about the impact it will have on their life, but I did it for my children and knowing what we were dealing with put my mind at rest too. I try to teach my children to look at the positive side of things and an example of this is that if we weren’t now in this situation ourselves, we wouldn’t have had the experience of doing the fundraising work. That defibrillator will be of benefit to people in the community for many years to come. You have to think of how future generations will benefit.”
Historically, families would have to travel to Manchester Centre for Genomic Medicine or Birmingham Women and Children’s NHS Foundation Trust’s clinical genetics unit for testing, but clinics have now been set up at Royal Stoke University Hospital and County Hospital in Stafford.
The ICC team at UHNM provide diagnosis, family screening, specialised care and support to patients and their families who are affected by ICCs and Sudden Arrhythmic Death Syndrome (SADS).
The team includes dedicated consultant cardiologists and a specialist nurse working in collaboration with the genetics team in Birmingham.
Dr Rhys Beynon, Consultant Cardiologist at UHNM, said: “We strongly feel this new service will increase the quality of care our patients receive. However, the clinic isn’t just about caring for the patient, it’s also about looking after other family members who may be unaware of their risks.”
Specialist nurse Katy Stern provides counselling, gathers consent and arranges blood samples which are then sent to Birmingham Women and Children’s NHS Foundation Trust’s clinical genetics unit and Oxford Medical Genetics Laboratories for analysis.
Katy travelled to Manchester on a weekly basis for 18 months to train with the genetics team in preparation for the launch of the new clinic.
Katy said: “This is a really exciting development for UHNM and pivotal to the care of families affected by ICCs. We have worked really hard to set up these dedicated clinics and a large multidisciplinary team is involved to ensure patients and their families are offered the highest quality of specialised care. We keep families’ needs at the heart of everything we do.”
Patients are referred to the service through their GP and receive an assessment similar to other outpatient clinic appointments.
Patients with a diagnosis of an ICC may be offered genetic testing and receive help to understand the results and the implications for the rest of the family. If a faulty gene is identified, the wider family may be offered testing.
The ICC team explore family history to see if there are any obvious conditions already present in close family members and families are offered screening, support and help to learn more about the condition.
UHNM maintenance technician Louis Fallows suffered a cardiac arrest at the age of 28 whilst at work. He was saved by colleagues who administered lifesaving CPR and chose to undergo genetic testing following the experience.
Louis, now 30, from Werrington, said: “I was having a normal day at work when the next thing I knew, I was waking up in Critical Care.
“After having an internal defibrillator fitted my recovery went well and I was back in work four months later.
“The doctors did lots of tests to find out what had caused the arrest, but they couldn’t find anything.
“I was offered the option of genetic testing and I decided to take it because I wanted peace of mind for my family. I was unable to drive due to the arrest, so the fact that I didn’t have to travel and could have it all done at Royal Stoke was very helpful.
“It was a really easy process, very quick and no pressure. It was all entirely my decision and I was taken through all the options.
“Although in my case the testing didn’t reveal a genetic change that could provide an explanation for my cardiac arrest, I still think it’s a good idea because if there is a problem, everyone in the family can get tested and it might ultimately save lives.”
Louis is now back at work and feeling well. He has backed the installation of defibrillators at Royal Stoke University Hospital and County Hospital in Stafford, enabled by a grant from UHNM Charity.