Heart Story – Emma’s Journey

We are going to kick off our series of “heart stories” with Emma’s Cardiomyopathy journey, in honor of all the brave little heart warriors fighting every single day – with every beat of their heart!

February is “Heart Health Awareness” month. Heart health is so much more than eating a bowl of cheerios a day or going for a brisk 30 minute walk. For our kids “heart health” is something they were never given a chance to achieve.  One in 100 children are born with a heart defect (also called a “Congenital Heart Defect”), while others can develop heart disease later in life, such as Cardiomyopathy (a disease in the heart muscle). The cause for Cardiomyopathy can be viral, genetic or simply unknown. Regardless of the underlying cause, the treatment and prognosis is about the same. There is no cure, no surgery to fix Cardiomyopathy. It is generally a life-long condition of varying severity depending on the individual patient.

Emma’s mom wrote about their experience with Cardiomyopathy:

Our journey already began during my pregnancy. In The Netherlands it is common to do prenatal screening. My sister and I were both pregnant at the same time and she did the screening, so I saw no reason why we shouldn’t.

The prenatal screening is mainly to determine what the chance is that the baby has Down’s Syndrome. I would have never have terminated our pregnancy, but if the baby had Down’s 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’s Syndrome. I guessed we would be fine as well. We did the test and the baby had large nuchal translucency: (4mm) so we had 1 out of 13 chance of having a baby with Down’s Syndrome. Well, 13 is our lucky number so I wasn’t scared by that.

Since we had abnormal results we were entitled to have multiple fetal echo cardiograms (“echo”) done. They did the echo and found that it seemed like the right ventricle was a little larger than the left one, but not much to worry about. We had additional echoes done and the pediatric cardiologist also saw the fetal echo. We pre-arranged a meeting after Emma was born to do another echo, just to be sure.

Since the baby was breech we scheduled a c-section. I almost developed eclampsia, as I had really high blood pressure and heart rate (120 while resting), so the c-section was re-scheduled for a week sooner.

And then Emma was born!

I was just back from the operating room and holding Emma for the first time, trying to get her to breastfeed. After 15 minutes they came and told us Emma had to go down to cardiology for an echo. We learned that Emma had an ASD and PDA (her ductus weren’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 specific of what they suspected.  When Emma was 4 days old they did another echo and found that her ductus still wasn’t closed (or the ASD). They told us that it could be normal, but 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, because that would be fine, but we were so anxious about the genetics. They left us in the blind before and we were worried she would might have Turner Syndrome or some other syndrome we found on Google. Well, the genetics appointment went fine, they suspected Emma had Noonan’s 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 she told us Emma’s heart was sick and she had to be admitted. We had to return a week later and they told us beforehand it would take just 3-5 days to get Emma going on medications. 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, so she could get started on some medicine and that her heart would be fine.

While we were at the hospital a week later some trainee told us that Emma had a live threatening illness. It wasn’t easy getting Emma on meds and they had to monitor her blood pressure and blood work very closely. 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 instructions to return for 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 was called. So we searched Google and read everything you don’t want to know, but at least we knew what her heart disease was called and what was 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 they wouldn’t harm her, so it was 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, or 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 half way, 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 first born, 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 with 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 an sick heart.

Saskia