Our son Marc was diagnosed  with EA at the age of 2, when our GP noticed an unusual heart beat. He was put on medication and monitored twice a year until he was 16 and then once a year as he had no changes or symptons. Because he was a large child and grew to be a 6’5″ adult and had an enlarged aorta, he was also monitored in case he had marfaans, for which he had no other classic symptoms. At 16 he developed narcolepsy/cataplexy and was given another drug to keep him awake. Long term these may have conflicted. He started at the local University and partly moved out into a shared student house, dropping home as and when he felt the need! I know he wasn’t taking his heart medication every day, but did take his narcolepsy drug to keep him awake in lectures, and he took full part in University life – partying and rushing about at high speed and holding down a weekend job. He didn’t take recreational drugs as he was well aware of the dangers with his two medical conditions. He was living life to the full. The week he collapsed and died, he had been VERY stressed about a number of issues. He had a quiet evening out, came in with his girlfriend sat in the chair and passed out and his breathing became very irregular. We called an ambulance and I did CPR until they arrived and took over. At the hospital they worked on him for some time, to no avail. We didn’t have a post mortem because all the medical staff were convinced that his aorta had split (a marfaans outcome) His heart consultant on reading all the reports from the night thinks that it was more likely connected to the Ebstiens and was a massive heart arrythmia . We have since discovered that he often had mid chest pains and irregular heart beats and had fainted on more than one occasion, but had ignored them as they passed quite quickly.

He was 21 years old, and our only child. He was very bright.

When your child leaves home and has to take responsibility for their own health and medication, it is a huge risk. They know it all and don’t want you nagging them. They only tell you what they want you to know. Maybe it would have helped if he had still been monitored twice a year still, something may have been picked up.