Tuesday 3 August 2021 was a day that changed Jody and her entire family’s lives forever. “It is one of those cliches, but we had our health and life was relatively straightforward and happy. In an instant our lives changed, and they've never gone back,” Jody said

Jody took her 14-month-old daughter Sienna and her son Theo to the park with her friend Kaylie and her children. Everything appeared normal until Sienna suddenly became very poorly and fell unconscious. They called 999 and Kaylie performed CPR on Sienna, which saved her life.

The ambulance rushed Sienna to Broomfield Hospital in Chelmsford, but her condition worsened on the way. Jody said: “During the ambulance journey to the local hospital Sienna also suffered a seizure and upon arrival her heart rate was beating dangerously high at around 300bpm+. Sienna was rushed into the Resuscitation Unit where a number of doctors worked tirelessly to stabilise Sienna.”

Broomfield Hospital diagnosed Sienna with a heart murmur, a hole in her heart, irregular heartbeat and SVT (Super Ventricular Tachycardia). The fact that she had so many different heart conditions meant that Sienna was referred to the specialists at Royal Brompton Hospital.

In September last year Sienna and her parents had a consultation with Dr Leonie Wong who commissioned more tests. In October, the team at Royal Brompton were able to diagnose Sienna with having Brugada Syndrome, sick sinus syndrome and atrial tachycardia. Brugada Syndrome is a rare genetic condition that affects the way electrical signals pass within Sienna’s heart, which means she is at high risk of dangerous heart arrhythmias, cardiac arrests and sudden cardiac death.

Brugada Syndrome is inherited from either of your parents and can affect many members of the same family. It was important that Jody and Sienna’s whole family be tested to see who else had Brugada Syndrome and might be at risk of serious heart problems.

“Me and my husband Jamie both had the genetic testing done whilst we were at Royal Brompton,” Jody said. This confirmed that Jody had the genes for Brugada Syndrome. “Our little boy was tested as well and it has confirmed he's got Brugada Syndrome and also my father, he has been confirmed to have it as well,” Jody said. Her brother and sister have been tested and both were negative. Her aunts and uncles are now being tested.

“It’s been difficult,” Jody said, reflecting on the ordeal her family has been through. She said that had it not been for Sienna becoming unwell, they might not have known that Sienna had Brugada Syndrome as many people are unaware they have the condition until they suffer a cardiac arrest and, for many, this can sadly be too late. Now thanks to the genetic testing done at Royal Brompton she is aware that herself, her father and both her children have this rare genetic condition.

“Knowledge is power, so it's definitely helped us,” Jody said. “We can take preventive steps to reduce the risk of dangerous and potentially life threatening arrhythmias, which is of course what we're doing.”

Dangerous heart arrhythmias and cardiac arrests can be triggered in people with Brugada Syndrome by high temperatures, drinking too much alcohol, dehydration and certain medications so it’s vital to manage such potential triggers.

“I always make sure that we aggressively manage high temperatures and sickness in the household and that we're always stocked up with Calpol for the children.” The children often require additional hospital care and cardiac monitoring if unwell, Jody said. Her children also wear smart watches that monitor their hearts to make sure they are functioning normally.

Sienna has had an Implanted Cardiac Defibrillator (ICD) fitted in case she has further dangerously high heart rates caused by Brugada Syndrome, which will require heart surgery as she grows and throughout her adult life. “She's definitely got a lifetime of treatment ahead of her,” Jody said.

Although there are preventative measures that Jody and Sienna can take there is currently no cure for Brugada Syndrome, which means Jody and Sienna must live with the constant worry of heart arrhythmias or a cardiac arrest. “It's just been a really traumatic time as a family,” Jody said.

It's one of those things that was either going to make me or break me. I think it definitely has the potential to break me and I just don't want that to happen. When there's no cure, as a parent, you just don't give up. You carry on because at least then I know that I've done everything I possibly could.

Jody and her family have been fundraising for Royal Brompton Hospital and have raised £26,000 so far. They want to keep raising funds and have planned a charity ball with auction and raffle prizes, a quiz night and golf day. Jody’s sister is also planning a sponsored walk of the 32 miles from Royal Brompton Hospital to her house.

Jody is raising awareness of Brugada Syndrome, which little is currently known about and many people are unaware of. She has created an Instagram account to document Sienna’s journey and has received messages from families all over the world who have also been diagnosed with Brugada Syndrome.

“I've had a lot of messages from families in similar situations. Some of them have just been diagnosed and they come to me and they say: ‘I'm devastated, I’m heartbroken, how am I going to get through this?’” Jody said. She can offer them the perspective of life over ten months on from that fateful day when Sienna suddenly became ill.

It creates a community and a support network. It's invaluable when you're dealing with something like this to be able to talk to people that are that bit further along the line than you. You can say that it’s okay and it’s not the end of the world.

You can donate to Jody and Sienna’s fundraising for Royal Brompton Hospital via her JustGiving page and keep track of Sienna’s story via her Instagram account.

Jody, Sienna and their family members were able to find out that they had Brugada Syndrome because of Royal Brompton’s genetics and genomics team. The team test thousands of patients a year from across South East England for inherited heart and lung conditions.

Right now, we are raising funds to buy a Next Generation sequencer for the genetics and genomics team, so that they can test more patients for rare heart and lung conditions like Brugada Syndrome. You can find out more and donate via our Next Generation Genetics appeal.

Support our Next Generation Genetics appeal