AVSD: Charlie’s Story

Charlie’s heart condition, atrioventricular septal defect (AVSD), wasn’t diagnosed until he was 19 months old. Here, his mum, Beccy, shares their emotional story:

Charlie was born in February 2020, after a very long wait – 15 days overdue! He seemed very small and had to wear size 0 nappies due to his shape, but weighed a healthy 7lbs 2oz.

I tried to breastfeed him, as I had got on really well feeding my daughter, but Charlie wouldn’t latch. We moved onto formula, but he never wanted to drink anywhere near the amount he should have.

He had all the normal checks and the doctor was happy with him at his eight week check.

As time went on, I would often say to people that he was small, but due to the pandemic, I was unable to have his weight checked. We were also not able to see many of our friends and family during this time, but when we spoke about his weight, we always figured it was just how he was.

I also noticed that he sweated all the time. I would put him in the car seat and when I got him out, his head would be soaking wet. Again, we just thought he was a hot baby.

We started to wean Charlie at six months. He seemed to be a good eater, although he was still not interested in milk.

After several attempts, I finally had an appointment to have Charlie weighed. He was seven months old. When they weighed him, we found he had dropped a couple of centile lines (although his weight gain had already started to decline by his eight week check, but this was not plotted on the graph).

Our health visitor gave us some tips for getting extra calories in him and we had regular appointments to check his weight. He did very slowly gain some weight and started to reach milestones, such as sitting and crawling. When he turned one, he started at nursery. This was when he started to pick up lots of viruses, which always resulted in a cough and a temperature, so we had to get a COVID test each time.

Charlie also began vomiting after his meals. His GP prescribed medication for reflux, but the vomiting continued. He then started to lose weight. I took him to the GP on at least four occasions. It was suggested that we were overreacting and that maybe I should cut down my working hours as the nursery was making him ill!

I finally spoke to a different GP, who asked me how long I had been concerned about Charlie, and it broke my heart to tell her that I’d been concerned for his whole life. He was now 17 months old. I cried tears of relief when she agreed to refer him to paediatrics.

We waited for just over two months for the appointment and Charlie continued to lose weight. A couple of weeks before the appointment, we went away and he didn’t seem right. He was fussy, vomiting, refusing food and not happy at all. Little did we know about what was to come…

We saw a brilliant paediatrician, who really listened to everything we said. I had written down every little thing I was concerned about, no matter how trivial it seemed. She said that he seemed breathless and lacked energy. Most 19 month old children would be running around but Charlie wasn’t, he couldn’t walk at this point. She listened to his heart and immediately told us she heard a murmur and that we had to go for some tests straight away.

I don’t think it sank in as we went down the corridor for an ECG and chest X-ray. Just as we were leaving the hospital, the doctor called and told me she wanted to admit him right away and that he would need to go to a different hospital for an ECHO.

We drove the 45mins to the hospital, not really thinking much about it. Surely, it wouldn’t be anything serious! The doctor performed the ECHO and when she was finished, she told us to wait while she got the consultant.

My heart shattered. I started to sob, but my husband reassured me that we didn’t know anything yet.

The doctor then came back as the consultant was unavailable. She told us that Charlie had complete AVSD and would need open heart surgery (OHS) very soon. I had so many questions. How did no one diagnose this earlier? Why didn’t I insist that the GP did some tests? How could he be so ill without me realising?

He started on medication for heart failure straight away. My baby’s heart was failing. He had suffered for so long and I didn’t know just how poorly he was.

We were in hospital for three weeks before being transferred to a heart unit for surgery. When we got there, Charlie was put in HDU as he was so poorly and they wanted to keep a close eye on him. He had surgery two days later.

The most terrifying thing I have ever done was hand my baby over to a surgeon, knowing he was going to stop Charlie’s heart. We were also warned that his recovery may be slow as he was so poorly.

But they didn’t realise that they were dealing with a strong little fighter! We were home five days after surgery and he hasn’t stopped yet. He is now walking and running everywhere! He loves to aggravate his big sister, but she is so grateful to have her brother back. She says that he is the strongest super hero!

It took one whole year to get a diagnosis from the first weighing appointment. Had Charlie’s condition been found earlier, he wouldn’t have been in heart failure before they operated. I wouldn’t have had the months of fighting to be heard. Charlie is also being tested for other conditions that may have arisen due to the heart failure.

Thankfully, Charlie’s surgery went very well, but he will need more surgery again one day. He is also on long term medication and a regular in outpatients!

Early detection is key in preparing families for the lifelong journey ahead.

Find out more about AVSD and other heart defects here.