I felt a sense of relief as we walked out of Shiv’s 6th monthly appointment at Great Ormond Street Hospital (GOSH). This was the one in which they assessed Shiv’s heart. Shiv’s consultant said his heart looked good and as it should be and that Shiv would not need to have another echocardiogram for another year – that was all we were praying for. However, the sense of relief was short lived. As we walked down the corridor thoughts that I try and tend to fight off on a regular basis began to creep back into my head ‘will we be so lucky next year?’… ‘what if they detect something next time round?’… ‘how long have we got before we are told Shiv’s heart is showing signs of deterioration?’

A few months later Manoj (Shiv’s daddy) came across a study which suggested that early use of types of drugs called ‘ace-inhibitors’ can potentially slow down the progression of cardiomyopathy significantly. We were both encouraged and excited by this study and decided that we would speak to Shiv’s consultant for some advice. However, Shiv was only 5. We had not prepared ourselves to be thinking of starting any heart medication until he was at least 10 years old: ‘are we really ready to have this conversation?’… ‘should we not wait for a while?’… we had only really heard of older children or adults being on such drugs.

Shiv’s next 6 monthly check up came around soon after. We discussed the study with Shiv’s consultant who suggested we should speak to a cardiologist also at GOSH… so we were referred.

The cardiology appointment came quicker than expected. We went to the appointment fully prepared to have the conversation… in our minds, we were quite convinced. We had the study printed out, highlighted the important facts and were ready to have the discussion with the cardiologist. To our relief, Shiv’s cardiologist was fully aware of the study and the benefits of starting ace-inhibitors early and prophylactically for Duchenne and we agreed that Shiv would start a small dose as soon as possible. We had lots of other questions regarding Shiv being on these drugs so after a very lengthy discussion our little boy was given his first prescription for ace inhibitors… drugs for his little heart!

Although all our questions were answered and we were confident that starting Shiv on ace inhibitors was the right thing to do, something inside made us feel very uneasy about giving our boy heart medication – after all, he was only 5 years old…  ‘are we doing the right thing?’… ‘once he starts, that will be it. He would need them forever’… ‘he already takes steroids, this will yet be more medication for him to take’… ‘what if he reacts adversely and we don’t know what do?’… ‘how will he feel after taking his first dose?’.... the fear we felt was so strong we unintentionally delayed the first dose for two months.

The truth is, Shiv did not react adversely. He was able to cope with taking the extra medication. There were no issues with his first dose or any after that and it has now simply become a part of everyday life for our boy with Duchenne. We have not looked back.

Shiv is fully aware that this medication he takes before bed will help keep his heart healthy and strong for as long as possible. His medication is a part of everyday life and he has accepted this with no fuss – we are ever so proud of our little warrior… they are indeed all warriors.

You may be wondering why I have written this blog. I want to highlight this important study that we came across. If you have a child that lives with Duchenne and has not started ace inhibitors I would urge you to read the study and discuss it with your child’s consultant / cardiologist to possibly reach a decision that will potentially be beneficial for your child and hopefully one that you too are comfortable with. We can only hope this will make a difference and the studies seem to show it can.

Manoj and I have learnt so much about Duchenne since diagnosis and continue to do so on a daily basis.

We began to appreciate that as a parent of a child with a rare condition, it is really important to try and be proactive and learn as much as possible about your child’s condition and all aspects of it.

It is of course a minefield and can be overwhelming and difficult to do this, particularly if you are still coming to terms with a diagnosis. However, a lot of information is available from advocacy groups, patient organisations, charities, Facebook groups, other parents, attending conferences and the consultants themselves. Please tap into these to ensure you can access the relevant and appropriate standards of care for your child and your family.

These standards of care can and will change over time, it can be difficult to keep up, but use the sources such as those mentioned above to help you. Only the other day, I was speaking to Lisa Kuhwald, Advocacy officer for Duchenne UK who attended the Caregiver masterclass for Duchenne in Madrid in May 2018, where they recommended starting ace inhibitors earlier on… before the age of 10 years.

Lisa also advised that the course highlighted that cardiomyopathy is not always detected on an echocardiogram and therefore it was advised that a cardiac MRI should be performed from the age of 6 – we were not aware of this, are you? We will certainly discuss this at Shiv’s next appointment… there is always something to discuss – such is the life that is Duchenne!

We often rely on very busy consultants who treat many children for many conditions, can we really expect them to know everything about our child’s rare condition? Maybe they should but maybe sometimes they can’t possibly know everything, after all they are human like us and so there is no harm in asking the question – and then being referred to a specialist in that specific area.

Remember you know your child best and it’s up to us as parents to assist our child’s consultant / clinician to help our children. We might feel we have read or discovered something compelling… never be afraid to ask!

Sejal Thakrar – Smile with Shiv – Duchenne UK