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Points for Reflection

1. This story highlights the need for police officers, coroners and pathologists to have a level of awareness and sensitivity when faced with adults who die suddenly, with no apparent cause. How are you able to use this story to inform your own care of families in this situation?

2. Geraintís mother felt there were a number of health problems that were unusual in her family. Families are often the first to perceive a pattern of differences that is consistent with a genetic diagnosis. How should a person with these types of concerns be treated by health professionals?

Activities

1. What has been your experience of sudden adult death syndrome families?

2. With colleagues, role-play a situation where a mother comes to you to discuss the sudden death of a child and her concerns for her other children. In particular, what do you learn when you take the part of the mother?

3. If you were contacted by Geraintís mother, would you be able to inform her about your local genetics service? Use the British Society for Human Genetics website (or other national genetics organisation website outside the UK) to locate the service that covers your own area.

Quotes

"Can someone die of "nothing" for no reason at all?"

"..people who have not experienced Sudden Adult Death Syndrome would not appreciate how hard it is to lose a child or any family member and be expected to accept that they died of nothing. There must be a reason for death but people should be helped, not have to fight and struggle as I did."

"I knew I had to get on with my life, but I just could not except that Geraint had died of nothing. I just did not know which way to turn. Every avenue I went down was a dead end."

"He told me quite bluntly that if I went down the road of looking for things for my family to have I was likely to end up having Munchausenís by proxy. His advice to me was to accept my son was dead, go home and get on with my life."

Further information

SADS UK, Ashley Jolly Sudden Adult Death Syndrome Trust

British Heart Foundation

British Society for Human Genetics: the contact details of all regional genetic centres for the UK are listed on this site.

EuroGentestis an EU-funded Network of Excellence with 5 Units looking at all aspects of genetic testing - Quality Management, Information Databases, Public Health, New Technologies and Education.

CRY (Cardiac Risk in the Young) website- includes a stories section containing personal accounts of loss due to young sudden cardiac death and young peopleís stories about living with rare heart conditions.

Arrhythmia Alliance - The Heart Rhythm Charity.


Location: The Stories
Transcript

You can download the full transcript here

A motherís anguish: The battle for a diagnosis after her sonís death
Brugada syndrome - an autosomal dominant cardiac condition

My husband, our five children and myself, lived a normal healthy life. Our children grew up and the eldest three, all girls, married and moved on to their own lives. Our two boys, Gerwyn and Geraint were still at home. They were both fit, healthy rugby players aged 27 and 24. Neither smoked and only drank a few pints of alcohol a week.

On Saturday March 17 2001, they both went with their own pals, to local pubs to watch Wales play France. Geraint had arranged to meet his girlfriend at 8pm to go into town for the evening. Geraint was always punctual, but 8pm came and went and he hadnít arrived Amy began to wonder whether he wanted a lift home, so decided to go to the pub to get him. When Amy reached the front garden, she let out the most awful scream. My husband and I ran out to see what was wrong. Geraint was lying on the garden. Our first thought was that he was drunk and had fallen. It didnít take long to realise that something was really wrong and Geraint had stopped breathing. My husband immediately began CPR and I telephoned for an ambulance. When the paramedics arrived, they took over. They worked really hard but by this time, I realized things were bad.

Geraint was taken to A&E and again the medical team worked tirelessly but to no avail. We had lost him but to what? I asked the doctor what had happened and he said Geraintís heart had stopped. That was obvious, so I ask why? What had happened? He said my guess was as good as his. We were given a piece of paper and told to read it for the next step. By this time all my children and their partners were at the hospital, all having to drive home in total shock and feeling completely numb. I will never be able to fully describe that night because even now, five years on, it doesnít seem real. Unfortunately, worse was to come for me.

The following day we all sat around the house, lots of people calling but it still didnít feel real- any moment now, we would wake up. The next day, my husband, son, Geraintís girlfriend and I had to go to our local hospital to meet with a deputy coroner, as the coroner was on holiday, to identify our son.

When we arrived, there were three other people with the deputy coroner - these were police officers. Because of the circumstances of my sonís death, the police should have arrived with the ambulance, but they werenít informed. After identifying our son, the deputy coroner informed us that a post mortem would be carried out the next day and he would telephone with the results.

They requested that we went to the police station to answer some questions. We were all shown to separate rooms and asked to tell our stories. At the time we didnít think anything was un-toward. About an hour after arriving back home, my house and garden were full of police. They knocked all the doors, asking questions about my son and our family. This Ďinvasioní lasted about 4 days. Every time the door bell went, it was another police officer for something.

On the Tuesday at 3:50pm, the deputy coroner rang with the results. Unfortunately I feel he had no Ďpeople skillsí whatsoever. His exact words to me were - "The post mortem has been carried out and no cause of death can be found. Blood samples have been sent to toxicology and the results will probably take about 6 months. An inquest has been opened and will probably take place in about 9 months. Good afternoon."

And he put the phone down. I would have been upset if he was talking about my 100 year old grandmother but he was talking about my 6í5 fit 24 year old son! This really blew me apart. Can someone die of "nothing" for no reason at all?

I spent some time on the net, and came across Long QT syndrome. I read up on this and put things into context. I had 2 sisters who had developed epilepsy late in life; they both had sons who had epilepsy at 25 years& 30 years old. My youngest daughter had experienced a Ďmessy divorceí and had what she thought were panic attacks and one of my granddaughters was having erratic heart beating. Going by the information I had read, I was convincing myself my son had Long QT.

When my emotions had settled, I got back in touch with the coroner who had returned from holidays. I found him a much more understanding person than his deputy. I asked if I could have an appointment with the pathologist, with regard to the information I had gathered from the net. To my amazement, the coroner asked if I could forward a copy of what I had obtained and if possible, a copy for the pathologist as well. I could not believe that professionals would require information from a "simple" housewife. When I went to meet the pathologist, the coroner came with me. What actually came out of that meeting was that the pathologist felt I should go to my GP and request what he described as "a simple blood sample" on my other son to see if it was Long QT. I cannot believe that any pathologist could be so badly misled or misinformed. My next port of call was my GP, and what a reception I had there! I explained about the internet and the Ďpeculiarí things in my family. He told me quite bluntly that if I went down the road of looking for things for my family to have I was likely to end up having Munchausenís by proxy. His advice to me was to accept my son was dead, go home and get on with my life.

I knew I had to get on with my life, but I just could not except that Geraint had died of nothing. I just did not know which way to turn. Every avenue I went down was a dead end.

Six months after Geraintís death, nothing had moved. I spent two full days trying to find someone working in genetics; I rang every hospital department I could find. When I mentioned Long QT to one person, he suggested I tried the Ministry of Defence as it sounded something similar to ĎGulf War syndromeí. After two days, lots of tears, lack of energy and about to give up again, the last person I spoke to at the teaching hospital said there was someone around there to do with genetics. She took my telephone number and said she would pass it. I really didnít expect to hear any more. I had a call the next day from a genetics nurse who was absolutely fantastic. I explained everything to her and she arranged to come and meet my family. I felt things were starting to move at last. After she met with us, she felt there was enough reason to look into family history but I needed to get a referral from my GP. Needless to say, I did not go back to the doctor I had seen previously but I did get the referral. The next step was an appointment with the genetics nurse and a consultant. The consultant then referred us to a professor at the teaching hospital.

Lots of tests were done on my immediate family and my siblings. My husband was discharged after the first appointment as his heart was found to be fine but other tests were arranged for the rest of the family. The professor felt there was something not quite right and requested a test that he was unable to do himself but we just didnít seem to progress at all. It was now three and a half years since Geraintís death and I still didnít have a peaceful mind.

The professor was finishing at the teaching hospital to work in Birmingham. I told him I had nowhere to go without him. He offered to refer me to Birmingham or to a Professor at a hospital in London. This name had been mentioned quite a lot in the information I had obtained from the net so I opted to be referred to him. An appointment was made for the seven family members that had still been undergoing tests at the teaching hospital. On the first visit to London, a blip was picked up on my youngest daughter but we had different blips, so an appointment was made for two weeks later for the two of us plus my husband, who had been discharged from the teaching hospital. On this occasion, all three of us underwent an ajmaline test. This showed that I was fine but my husband had Brugada syndrome and my daughter also had it. The Professor was prepared to say that he it was almost certain that Geraint also had Brugada syndrome and the first symptom was fatal.

My husband decided not to have an ICD (implantable cardiac defibrillator) fitted as he has cancer which is in remission at present and he felt as he had no symptoms in sixty five years, he would take a chance. My daughter has an ICD fitted so hopefully is now safe. Her two children were then given an ajmaline test as were my other three children and one granddaughter. Fortunately they were all clear.

It took four years to find out what killed my son and thankfully my daughter didnít die as well. I have absolutely no faith left in the Welsh NHS, the teaching hospital took four years to find nothing and London took three weeks to detect the killer in my family.

If I wasnít such a strong, determined person I would never have found the killer in my family.

Nobody wanted to help or even tell me where to go for help because they didnít think it was important. Believe me, it is.

I am getting my life back on track now but working towards improving the way people are supported when Sudden Adult Death Syndrome occurs in a family.

Since sorting my familyís future, I have been in touch with the coroner, pathologist and my GP and I feel they have learnt from my experience but there is still a long way to go.

Probably, people who have not experienced Sudden Adult Death Syndrome would not appreciate how hard it is to lose a child or any family member and be expected to accept that they died of nothing. There must be a reason for death but people should be helped, not have to fight and struggle as I did.