Early heart medication - Action Duchenne

A blog by Lyndsey Kaye | Admin Volunteer | Duchenne Mum

Thump-thump, thump-thump, thump-thump…. the sound of a heartbeat. It reassures us that everything is alright, doesn’t it? Not always.

A scare before he was even here

When I was in the early stages of my pregnancy with Riley, I had an emergency scan at 6 weeks, and they told me they couldn’t find a heartbeat.

My husband could not get time off work to come for that scan, so the news was delivered to me with my best friend by my side. She was amazing. I was advised to come back in 2 weeks, and they would see if there was any change, or if that was the end of my pregnancy. 2 weeks. That seemed like an absolute eternity. Luckily, they found a heartbeat 2 weeks later and my pregnancy continued without issue. The relief I felt was immense.

Little did I know then that that was just the start of my nerves regarding the condition of Riley’s heart.

Diagnosis

In 2018 Riley was diagnosed with Duchenne muscular dystrophy. I remember being sat in the room with his consultant as she bluntly listed the next steps; one of which was regular scans and checks on his heart. The heart is a muscle after all. She assured me this was just precautionary and that individuals with Duchenne rarely developed issues with their heart until later in life. Certainly not at the age of 4, as Riley was then.

Additional needs and scans

Riley has autism along with Duchenne, which is not uncommon. He is also completely non-verbal. We knew a scan of his heart was never going to be an easy accomplishment, because frankly he didn’t understand what we were asking of him, but we were happy to try in order to tick that box. The result from that scan came back inconclusive.

He hadn’t stayed still enough, even though we tried our best. So, another was arranged. This one found him in a more compliant mood, and they could obtain an accurate result. The consultant on rota that day happened to have been sent from a specialist heart hospital in Leicester.

He very calmly, but with a frown, told me that there was a problem. Riley had enlargement on the left ventricle. I must have looked confused because he very sombrely explained that from what he was seeing, Riley’s heart looked like that of a boy of 14 with Duchenne; not that of a 4 year old with the disease.

We were floored.

It was like diagnosis all over again. As a result of this, we had to take Riley to Glenfield Heart hospital in Leicester for the weekend for tests. This was no easy task. Sedation seemed to have no effect on him, so the first scan was inconclusive, and the doctors had to wait until the evening when Riley finally fell asleep to carry out another.

The result? They found no other issues with his heart, and we were to wait and see them again in 6 months to see if there had been any deterioration due to Duchenne. He was at that point prescribed the heart medication Enalapril, which he will take for the rest of his life.

Pre-appointment nerves

6 months later. We have another scan on Riley’s heart and I fully admit to being terrified. Surely Duchenne couldn’t be damaging my beautiful boy’s heart at such a young age. My mind went to some very dark places. Our track record with appointments and getting bad news convinced me we would get more of the same. But we didn’t. There had been no change at all to his heart in that time, and the consultant shrugged and said perhaps he was just born with the left side of his heart enlarged. Once again, we will see you in 6 months.

Then Covid hit. So, we weren’t seen again in 6 months. Nor were we seen in 12 months. We were seen last week, a whopping 18 months after that first check-up and 2 whole years after they had first discovered a potential problem. Imagine my nerves. I was shaking. I felt sick. I was so convinced that his heart would have deteriorated in that time and that they would tell me my little boy’s life would be even shorter than we already anticipated. In my head I was planning how I would share this devastation with Riley’s siblings. Clinic ran a whole 2 hours late too, and in my head, this was an omen.

Imagine my shock when the consultant last week told me there has been absolutely NO CHANGE at all to Riley’s heart in 2 years! I was genuinely speechless. Those of you who know me know that isn’t a frequent occurrence. He told me to take this as a win, and that instead of seeing us in 6 months he didn’t need to see us again for a year. He added that he doesn’t anticipate a change in the next year either. We left that appointment and I promptly burst into tears, which confused my husband immensely. The relief after months of dread and panic was immeasurable.

In conclusion: after being so scared for such a long time, I now know Riley’s heart is a strong one. He is such a happy, smiley boy and he is loving life.

This makes my own heart incredibly happy.