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I lost my son Harrison on 04/02/2010 to EA. He was born sleeping, I was 27 weeks pregnant when he died. He was diagnosed at 21 weeks at Liverpool Womens Hospital (the staff there are fantastic).  Harrison had severe EA and pulmonary atresia and when he died his heart was so enlarged that it filled his chest. Losing him has been the hardest thing me and my husband have ever had to face but, we know that it was a blessing for Harrison to be born sleeping because it meant he wasn’t suffering. There was no genetic reason for his EA and as the doctors put it, it is a case of sheer bad luck but I am very concerned that if we ever tried for another child that the same thing could happen again. I have been reading all the comments people have made but haven’t found any which say you have gone on the have perfectly healthy babies after having a baby with EA.

Tia Elise, Our second child was born 12 days overdue on 29th December 2004 after a textbook pregnancy. I remember so well the midwifes words after she was born “She’s perfect”. We thought so too & her brother certainly did when he met her later that day.

In the early hours of the morning, after having fed her for the 4th time in just over 12 hours (she was a hungry baby), she seemed a little unsettled to me, I just felt something wasnt right.

I decided to take her to a midwife for reassurance. There was nothing apparent & she soon settled. After having talked for a while about delivery etc the midwife thought Tia maybe now looked a little cold & was flaring her nostrils slightly.

It was suggested her temperature be taken, this was a little low. They felt maybe she had a cold/viral infection & a paediatrician was called for a second opinion. He found she had a slight heart murmur, but I was told not to worry asthis was common in babies/young children and they are usually innocent (I knew this to be true as our older child was diagnosed with one at 6wks old).

I was offered a choice of keeping her with me on a heat pad & a touch of oxygen or to send her to S.C.B.U where they could investigate just what was going on & get her warm quicker. I opted for the latter & was told they would settle her in an incubator & come back for me.

I was asked if I wanted to call my husband, i decided to wait until we knew more. It was around 4.45am & i knew he would worry.

Around an hour later I was beginning to get restless, it didnt take this long to settle a baby in an incubator surely? Then i heard footsteps coming along the corridor, lots of them & hushed voices. Instinctively I knew something was wrong.

Two doctors & a midwife came to me, the male doctor began to speak. They had some bad news about my daughter. He took my hand as he said “its the worst possible news, Im so sorry”.  That was the moment my world fell apart.

They said they’d had no idea she was so seriously ill, she showed no signs, her heart had failed & they’d tried to resucitate. She was just under 15 hours old.

We had no choice, a post mortem had to be performed. It showed that Tia was taken from us by Ebsteins. Its something I will struggle with for the rest of my life. We were told the coroner despite his years of experience had never ever seen it & had to search through books in order to give what he found a name. How then can I fully believe that she would of been inoperable? How can someone who had never seen Ebsteins  say there would of been no hope? Maybe, if Ebsteins had been detected in utero she would of had a chance at life.. We will never know.

The ignorance here in the U.K is so very wrong, we were told Ebsteins is so rare, it affects so few people that so little was known & no research was likely. I know of several other families devastated by Ebsteins & it doesnt help any to be told were the minority.

 

Young Adult

27/12/10

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.

Jacobs Journey

13/05/14

My gorgeous son Jacob was just a day old when he was diagnosed with an ASD & Ebstein’s Anomaly. Flying him in an air ambulance so he could be taken care of in a specialist heart hospital the doctors gave little hope saying he would probably die before the weeks end.  I prayed and prayed to have 3 weeks with him rather than just a few days.  But Jacob was a fighter and life continued for him well beyond those 3 weeks.  He lived a relatively normal life but was restricted in what he could do physically.  At 11 years old Jacob started to deteriorate finding it hard to do normal daily activities.  The decision was made for him to have his first heart surgery. At 12 he had open heart surgery, a Bi Directional Glen and they decided to only partially close the hole in his heart, believing closing it would cause further complications.  Within weeks of the operation he was full of energy like his friends, riding his bike and running around the neighborhood.  To impress the girls at the beach he told them his ‘zipper’ scar was from a shark attack, this also meant he didn’t have to feel different by telling them he had a heart problem.  Jacob had a few years of good health behaving like a typical teenager in many ways; he enjoyed the outdoors, fishing, camping, rock climbing and living life to the extreme.  He was not typical in the fact that he, his girlfriend and I spent a lot of time together, unlike most teenagers who spend their time trying to avoid their parents. At 16 Jacob’s heart began to race at 180 beats per minute.  Over the next three years Jacob had to take daily medications with unpleasant side effects, he endured regular visits to hospital often by ambulance for medical procedures, interventions to control his heart rate, operations and on-going tests.   Living with this reality Jake was always positive and brave even with his numerous visits to hospital.  He had a real depth of character. Despite his heart condition, he wanted to be part of the team in his work environment and not hide behind it. He loved his sales job working hard, if not harder than his peers. He had a loving nature and where others would have given up he persevered for months with his cousin Arliah who, as a baby, would scream in fear of his deep voice. It took 9 months of effort before she welcomed him with squeals of delight and he became her very best “Uncle Jakey”.

We got ‘the call’ just before Christmas 2008 for Jacob to go back for the fourth attempt at a cardiac ablation, we were looking forward to him being a new man for the new year, hoping this time it would be a success.

I returned to the hospital expecting to see my brave boy sitting up in bed, instead I was called into the doctor’s office and informed that my precious son had suffered a massive stroke.  Within hours Jacob was surrounded by sixteen family and friends who tended to him over the following days, he was never left alone day or night. On the second day after the stoke Jacob’s brain started to swell, a complication that can occur in young stroke victims, the doctors gave him a 50/50 chance of survival.  We were told if he did survive he would be seriously disabled, unable to walk, talk, toilet or feed himself meaning he would have to be nursed for the rest of his life.  We were asked to decide if we wanted Jacob to have further surgery where surgeons would remove part of his skull giving his brain room to swell in the hope that it would reduce the risk of further damage.  This decision was by far the hardest I had ever had to make in my life; fortunately I had 12 others who loved Jake as much as I did to help me decide.  Knowing Jake already struggled with his heart condition we knew he would not want to live in a disabled state.  I would have loved so much to keep him alive in that state, any state; I would have nursed him for the rest of his life.  But we weren’t making the decision for us we were making it for him, for what he would have wanted.  I sent him a text that night, not that he could read it but I somehow hoped he would ‘get it’,  “Hi sweetie I love you SO SO much, you’re the best young man ever, with the greatest personality, my little comic, I’ll miss u darling but NEVER 4get, it’s time 2 go now pumpkin this is so unfair, u had so much potential, I loved ur wit, u were so entertaining, go now & be free of your pain, you’l be safe & happy in your new home, love mum’.  Sadly after undergoing a procedure that was meant to improve the quality of his life the hole in his heart that was supposed to keep him alive had been the pathway for a clot that took his life on December 20 2008.  He died in a hospital bed surrounded by his family, friends and his girlfriend of five years who had all travelled from Wellington to Auckland to be with him. I didn’t feel the need to tell him as he was dying how much I loved him, he already knew as I told him nearly every day.   I got more than the three weeks I had prayed for when he was just days old, I got 19 wonderful years.  I buried my only child who was the center of all my life the day before Christmas 2008.  I miss his wit, his great big bear hugs and his deep voice.  Jake packed a lot of excitement into his 19 years living life to the extreme. It was as if he knew he was only here for only a short time. He touched the lives of the many people who knew him. We never got to see his full potential but he had hopes and dreams for the future.

With Jacob himself having a serious heart condition it was ironic that the only thing he could donate due to family and ethical beliefs were his heart valves, he was not brain dead so could not donate major organs.  For something that seems so relatively small, heart valves, it is amazing to think he has saved the lives of 3 children, a teenage boy and 2 babies, children with similar conditions to himself. His gift will prevent them from having to use medication with nasty side effects. The only surgeon that uses these valves in New Zealand is the surgeon who operated on Jake when he was 12 years old and gave him life.

Jacob loved to help people when he was alive and it is comforting to know that he now continues to in death. For me it helps with the grief process to know his life continues to have meaning, although I don’t have my boy any longer he can make a difference to other people’s lives.  At the time it was quite a traumatic experience making the decision for your loved one to be pulled apart yet again but now it is lovely to think that he is still able to help people which is what he enjoyed doing when he was alive.

I miss you so much my Jakey boy