Ebsteins Anomaly

Fundraising in the Park

caroline — Thu, 29 Jul 2010 09:28:27 +0000

Thanks to all those who were involved in our pram push in the park. We raised over £1300 which was great!

See http://www.thisisbath.co.uk/news/Mum-bids-raise-funding-training/article-2415655-detail/article.html for the write up.

Mum wants more research

Kathleen — Thu, 29 Jul 2010 09:26:25 +0000

I am a first time Mum, and we were told our baby girl had Ebsteins the day before she was born. Although we actually had had an abnormal NT at 12 weeks, and went ahead with an amnio which was normal. We proceeded with a detailed u/s and echo at 20 weeks and were told that our baby was completely healthy. We were soo relieved!! It wasn’t until I went overdue and had a routine u/s to check the fluid was it noticed that she had a heart defect. We were devastated, and shocked wondering how it could have been missed. Once it was diagnosed, I was induced so that she wouldn’t be born over the weekend, to maximize the resources available for her. After a very quick labour, Sydney was born screaming away. She needed no immediate interventions, and I got to cuddle her before the nursery team took her to the PICU for observation. She spent a few days in the PICU, and needed no intervention besides oxygen as a pulmonary vasodilator. We then spent a few days on the cardiology ward in the children’s hospital before being discharaged home. She as acted like a regular healthy baby!!! She is now two months old and doing great. She weighed 7 lbs when she was born, and has since doubled her birthweight. I hope and pray that she stays healthy (and happy!) her whole life, and that more research is done regarding Ebsteins Anomaly.

Help for Rino

Emmadyas — Thu, 01 Jul 2010 09:29:10 +0000

Hi,

My name is Emma and I have a small school on the island of Koh Samui in Thailand. One of my students, a little boy called Rino, has just been (after literally years of doctors telling his family he would grow out of it) diagnosed with Ebsteins. He saw a specialist in Bangkok who told him he will need surgery within a year. His parents don’t have any insurance and the operation will cost somewhere in the region of 2 million baht, or 40,000 pounds. We are setting up a website for him and are starting to organize fund raising events. The reason I am putting this post up here is to ask for ideas and help. He is an amazing little boy and I have come to love him very much over the last five years that I have known him. He hasn’t had the easiest of lives and it breaks my heart to have to see him now go through this as well. Any ideas will be gratefully received and when we have his blog set up I’ll post details of that too.

Thank you, Emma

Pram push in the Park 11th July 2010

katyt — Mon, 28 Jun 2010 16:30:53 +0000

We would really like some more people to sign up for our sponsored event in a couple of weeks time, so if you’d like to come along to Royal Victoria Park on Sun 11th July please email me at katy ‘dot’ turner ‘at’ ymail ‘dot’ com or feel free to just come along and support and buy some lovely cakes, jewellery and books.

Thank you

Katy, Ed and Emmeline

UPDATE: See press coverage of the event.

3 legged race

Tim — Mon, 14 Jun 2010 09:54:46 +0000

In coordination with the Katy Turner pram push fundraiser, we’re running a three-legged race around the same course in Bath’s Victoria Park. Here’s a fantastic chance to get your kids involved in the fundraising – they can ask their friends to sponsor them and take part in their own fun activity.

If you can get along to the event on 11th July then please come and support us. If not, why not organise your own event instead!

1st Summer fundraiser

Tim — Fri, 11 Jun 2010 10:58:36 +0000

Summer’s here and it’s time to take advantage of the weather to raise some funds. This is exactly what one of our members, Katy Turner, is doing in her local city of Bath.

Katy’s daughter Emmeline is three and was diagnosed with Ebsteins at birth. Since then Katy and her husband Ed have joined the Ebsteins Society and are now organising our first summer fundraising event in 2010 – a sponsored pram push in Victoria Park in Bath.

We would love you to support this event either by coming along or sponsoring Katy (click for details), or perhaps you could organise you own event! – see our fundraising page for ideas. Of course, we always welcome direct donations to The Ebsteins Society!

Cone Procedure

alisonlaidlaw — Thu, 03 Jun 2010 10:17:17 +0000

Hi all,
My daughter, Katie, a twin, was diagnosed at birth with EA. She is compensating well without meds but we have always known she would need surgery. The plan being, as with most, wait until she isn’t coping, as close to adult size heart as we can get, and then go in for repair/replacement. Like all of you, I hit the info highway as hard as I could and have been stopping in for updates for the past 6 years. Two years ago, there was a post about the cone procedure….and the research I did following that made my heart skip…really!….a procedure that has such incredible success rates is truly more than we were ever allowed to hope fore. So, began the long process of trying to change minds….what if we just sent her stuff to Dearani and the Mayo, just to see if she is a candidate. Fine, our cardiologist did so, but our surgeon is reluctant. Mayo says yes, she is a candidate. So mom says, “We’re going”. Cardiologist says just wait, lets talk to the surgeon and see what we can come up with. Dr. Ross, our surgeon from Stollery in Alberta Canada decided that this was a good procedure and western Canada should learn it so would we be willing to have Katie operated on with Dr. Ross assisting Dearani in Edmonton. Sure, whatever, just get it done. Now Dr. Dearani has not responded to repeated requests for contact but a Dr. del Nido from Boston has agreed to do Katie’s procedure in Boston. I have done a lot of research on Dearani but can find less on Dr. del Nido and his results. Does anyone out there have some information on Harvard and/or del Nido’s publications/results.

Thanks, Alison in Canada

My experiences as a mum

Nattikins — Thu, 25 Mar 2010 20:02:00 +0000

[apologies - needed to shorten the long title - Ed]
hi, I am the Mother of a child who was diagnosed with Ebsteins at Great Ormond Street 27 years ago.

Hi, Nattikins here mother of 27 year old Laura who has Ebsteins, Wolff Parkinson, narrow pulmonary artery. She was diagnosed at Great Ormond Street the day after her birth when at the “check” they heard a funny heart sound – they didn’t know what it was so sent her, with a police escort, up the M1 to London. She was sent back 3 days later with a diagnosis and an appointment to attend at GOS. That’s where her diagnosis was explained to us and we were told by our GP when we asked for a prognosis that “she could not run round the playground or she could not run a 4 minute mile” it would just be wait and see. Anyway she was very well throughout her childhood and didn’t need any medication or interventions (apart from developing Migraine at 7). At 20 she started to have rapid heart beat due to the extra electrical pulse in her heart and she was admitted to The Heart Hospital in London for a “simple, quick ablation to put it right”. Unfortunately ablating this extra pulse put her into complete heart block and a pacemaker was installed. She found this very traumatic and hard to deal with, particularly when she went for checks of the pacemaker and felt they were able to control her heart with an external magnet but she has just about got over this. However some 6 months ago she experienced a “black dot” in her right eye – she went to the Optician and her Doctor who told her to go to the Local Eye Dept of the Hospital which she did – she was told her vision field was affected but to go back in a week. She duly went back and was told it was still affected and was given a leaflet on Detached Retina, they also kept asking to give her an MRI scan which of course she had to explain to all of them that she could not have because of the pacemaker. They therefore decided to make an appt to do a CT Scan. Luckily, oh so luckily, my elder Daughter is a Doctor (currently a Registrar Radiologist) and when I told her the situation she immediately said that I should contact our Heart Specialist as it could be a clot from the hole in her heart. I did so immediately and she was seen in January this year. He was most concerned and arranged for a “Contrast/Bubble Test” and a letter was written to the Eye Consultant regarding his concerns and asking him to see her before her next heart appointment on 17 March. She duly went for the bubble test and was told by the Physician who carried it out that they had never had a more positive result and it was also showing bleeps some 10 minutes after the injection of the solution – the Physician was concerned and contaced her Heart Specialist immediately. She finally managed to get an appt to see someone at the Eye Department on the 16th March – they kept offering her appts in ~April and May, and all that was done was yet another vision test when she was told that her sight in her right eye was 60% compared to 77% and 67% on previous occasions. She was not seen by the Consultant and was just told she had a “defective retina”.

We duly saw the Heart Specialist on the 17th when it was decided she needs to have an operation to close the hole in her heart as soon as possible as it is obviously throwing off clots and presumably has resulted in retinal emobolisms – this means she won’t recover the loss of sight and is very lucky really that they ended up in her eye and not giving her a stroke in her brain – however we still have no diagnosis from an Eye Consultant. I am concerned and so are my daughters about the hole being closed because of how Laura will cope and if her heart will enlarge too much but they have said they will try on the table and see how it affects her. She has a 3 year old daughter so is very concerned as is understable.

I am just so angry without my elder daughter having had medical training and suggesting that I contact the Heart Consultant this would still be going on as neither Laura nor myself would have necessarily mentioned this eye problem to him at her appointment – not putting the heart and eye together. I, myself, had a stroke at 46 so know the devastation this can cause. I just feel totally let down by the Eye Department and wonder if anyone else has had such an apalling experience.

I also wonder if any other adult has had to have their hole closed due to the leakage of blood and clots and how they are coping?

Thanks for reading

Tia Elise… A life lost due to ignorance

Chasing Rainbows — Thu, 11 Mar 2010 10:04:41 +0000

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.

Loss of our son, and looking ahead

Jennifer — Tue, 09 Mar 2010 17:04:56 +0000

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.