Emma’s Story

Emma is a darling, three-year-old girl living in The Netherlands. She was born with multiple heart defects, as well as dilated cardiomyopathy, the same form of cardiomyopathy that Lucy had. Thankfully, Emma is doing well and her mom Saskia has agreed to share their story.

It already begins in my pregnancy. In The Netherlands, it is common to do prenatal screening. My sister and I were both pregnant and she did the screening and I saw no reason why we shouldn’t. The prenatal screening is mainly to determine what the chance is that the baby has Down syndrome. I would have never terminated our pregnancy, but if the baby would have Down syndrome, I would like to be prepared and know all about it and what to expect.

So, my sister had a 1 in 4000 chance of having a baby with Down syndrome. So, I guessed we would be fine as well. We did the test and the baby had large nuchal translucency (4mm) and we had 1 out of 13 chance of having a baby with Down syndrome. Well, 13 is our lucky number, so I wasn’t scared by that.

Since we had abnormal result, we were entitled to having multiple extra fetal Echos done. They did see at the Echo and it seemed like the right ventricle was a little larger than the left one, but not much to worry about. We had some more Echos done and the pediatric cardiologist also saw the fetal Echo and we pre-arranged a meeting after Emma was born to do another Echo, just to be sure.

Since the baby was breech, we already set up to go for c-section. Since I almost had eclampsia and I had really high blood pressure and heart rate (120 while resting), the c-section was scheduled a week sooner.

Emma was born!

I was just back from the operating room and holding Emma for the first time, trying to get her to breastfeed for the first time. After 15 minutes they came and told us Emma had to go down to cardiology for Echo.

We learned that Emma had an ASD (atrial septal defect) and PDA (Patent ductus arteriosus. Her ductus wasn’t closed.)  Later that day, doctors came to see us and they suspected Emma of having some kind of syndrome. They didn’t tell us anything then of what they suspected.  When Emma was 4 days old, they did another Echo and her ductus still wasn’t closed (or the ASD), but could be normal. They would do checkup after 7 weeks and it wasn’t really much to worry about.

When Emma was 7 weeks old, we had two appointments at the hospital, one with cardiology and the other one was with genetics. We weren’t all that worried about cardiology, cause that would be fine, but we were so anxious about the genetics. They left us in the blind before and we were worried she might have Turner Syndrome or some other Syndrome we found at Google.

Well, the genetics appointment went fine. They suspected Emma with Noonan Syndrome, but they had to do some testing first. Then we went to cardiology. After the Echo, the cardiologist came to see us and told us the PDA was closed and her ASD.. I don’t even remember.. I think it was also closed. It was then when she told us Emma’s heart was ill and she had to be admitted.  We only had to return a week later and they said on forehand it would take just 3-5 days to get Emma going on meds. We didn’t even realize how serious her condition was then.

So, we told all relatives and friends Emma had to be admitted for a few days, had to get started on some meds, and that her heart would be fine.

Well, at the hospital a week later some trainee had to tell us Emma had a life-threatening illness. It wasn’t easy getting Emma on meds and they had to monitor her blood pressure and blood work very close. Emma’s ProBnP levels weren’t coming down. They were so high, that they couldn’t even tell how high it was. It was more than 35.000!

Eventually, after 3 weeks we got to take Emma home, with a bag with medicine and return appointments every 2 weeks. We still didn’t know much about her disease then. It wasn’t until later that I had read her file and read the words “Dilated Cardiomyopathy”. The words in Dutch are even harder and we had to write this one down to even remember what it’s called. So, we searched Google and read everything you don’t want to know, but now we do know what her heart disease is called and what is going on inside of her.

When Emma was diagnosed, her EF (Ejection Fraction) was only 15% and a year after diagnosis her heart didn’t improve much. We started Emma on supplements, since we read some good things about it. We didn’t expect much of it, but wouldn’t harm her, so worth the try. A year later Emma’s EF was improving! Last Echo, her function was 53%!! Her left ventricle is still dilated and she still has severe DCM, so the cardiologist says.

Emma never really had any major symptoms that would be warning sign for us. When we look back, we know she was sweating a lot while drinking a bottle and would fall asleep halfway and after 10 minutes finish the rest of the bottle. There are lots of babies that fall asleep while drinking a bottle. Emma was our firstborn, how could we know something worse was going on?

Emma is now a happy and very smart little 3-year-old! We still continue the supplements and soon have another checkup at cardiology. These appointments are always stressful. This disease is so unpredictable. We still live from appointment to appointment. Although her function is improved, Emma still has a sick heart.

 

 

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