CHD5-related conditions are caused by changes to the CHD5 gene, which can lead to developmental delays, behavioural differences and, in some cases, epilepsy. Ruth McKay shares her family’s story after her son was diagnosed with a CHD5-related condition and explores how the variant can impact people in different ways

Written by Ruth McKay, founder and director, CHD5 Alliance CIC

For 11 years, I searched for an answer.

When my son was a baby, he began having difficulties that made it clear that something wasn’t quite right. Genetic testing was carried out when he was very young, but it didn’t immediately give us the explanation we were looking for.

Over the years, there were more investigations, more appointments and more questions.

Genetic testing had been part of his journey from the beginning but finding an answer to explain everything was not straightforward. We continued looking, hoping that eventually somebody would be able to put all the pieces of the puzzle together.

As his mum, I never really stopped searching.

I wanted to understand my son. I wanted to understand why he had so many difficulties and, most importantly, I wanted to know how I could support him as well as possible.

Then, after 11 years, we finally had an answer.

My son was found to have a CHD5-related genetic condition.

Uncovering a rare diagnosis

Having an answer after so many years was an incredibly important moment. But discovering the genetic variant didn’t suddenly mean that we had all the answers. CHD5-related conditions are extremely rare, and there is still much to learn about how they can affect different people.

And then our story became even more unexpected.

Testing showed that I have the exact same CHD5 variant as my son.

Yet our experiences are very different.

Although we share the same variant, my son’s disabilities and support needs are considerably more significant than mine. Seeing that difference first-hand has made me realise just how important it is to understand the experiences of different people with the same genetic condition.

A genetic result is one piece of information. Behind that result is a person, a family and an individual life.

My son has needed significant support throughout his life. He has complex needs, and as his mum I have spent years learning how to advocate for him, communicate with professionals and understand the many different aspects of his care and development.

Finding the CHD5 variant gave us something we had been looking for for11 years—an explanation and a starting point.

But it also opened the door to many more questions.

What does CHD5 mean for different people?

Why can two people with the same variant have such different experiences?

What can we learn from families already living with CHD5-related conditions?

And how much more could we understand if those families, clinicians and researchers were able to connect with one another?

From searching for answers to helping others find them

For years, I had been searching for information for my son.

Eventually, I realised that other families were probably doing exactly the same thing.

Somewhere around the world, another parent could be sitting with a genetic report and wondering what it means. Another family could be looking for somebody who understands their child’s experiences. Another person with a CHD5 variant could be trying to find information about people who share their genetic diagnosis.

I didn’t want those families to have to start completely from scratch.

That was one of the reasons I created CHD5 Alliance CIC.

It is a family-led organisation with the aim of supporting people and families affected by CHD5-related conditions, connecting communities, raising awareness, encouraging research and helping people find reliable information.

It has grown from something very personal.

I didn’t begin this journey because I had all the answers.

Quite the opposite.

I began it because I spent 11 years looking for them.

Why connection matters

One of the things I have learned through our journey is that rare disease can make finding the right information difficult.

When a condition is rare, there may be very few people who have lived through something similar. Families can be separated by thousands of miles, and researchers may be working with very small numbers of patients.

That makes connection incredibly important.

Every family has their own experience. Every person is different. But bringing those experiences together can help create a bigger picture.

I want CHD5 Alliance to help create those connections between families and communities, while also encouraging communication with researchers and professionals.

I also want families to know that their experiences matter.

Learning alongside the journey

My journey hasn’t stopped at finding my son’s diagnosis.

I am now studying Healthcare and Health Science with The Open University because I want to develop my own knowledge and understanding and use what I learn to support the work I am doing.

In some ways, it feels like another part of the same journey.

For 11 years, I was searching for an answer for my son.

Now I’m trying to understand what that answer means—not just for him, but for other people and families affected by CHD5.

I don’t pretend to have all the answers. There is still so much we don’t know.

But I know how important it is to keep asking questions.

Looking forward

CHD5 Alliance is still growing, and there is a lot I hope we can achieve.

I want to help families find one another.

I want to help raise awareness of CHD5-related conditions.

I want to encourage research and help build connections between the people affected by these conditions and the researchers working to understand them.

And I want to make sure that families who receive a rare diagnosis don’t feel their journey has to end with a genetic report.

For me, this started with my son.

It started with a baby who had difficulties, genetic testing that didn’t immediately give us the answers we needed and a mum who refused to stop looking.

Eleven years later, we finally had an answer.

I carry the same variant as my son, but our lives have been affected very differently by it. That alone has shown me how much there is still to understand.

So I’m no longer just searching for answers for my own family.

I’m hoping to help build a place where other families can search, connect, share their experiences and, together, help us learn more about CHD5.

Because sometimes finding an answer isn’t the end of the journey.

Sometimes it’s where the real journey begins.

Ruth
Founder/Director, CHD5 Alliance CIC
United Kingdom
chd5alliance@gmail.com
www.chd5-alliance.org
https://www.linkedin.com/company/chd5-alliance-cic/home/

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