Mom with Huntington’s in family: ‘We’re all more than a faulty gene’

Charlie Burke holds her son Cian. (Photos courtesy of Charlie Burke)

This is Charlie Burke’s story:

In 2019, I gave birth to my first child and found out I was at risk of Huntington’s disease (HD).

My son was only 3 months old when my dad told me he’d tested positive for HD — a disease our family was completely unaware existed until my nan went to a routine GP appointment in 2018. An HD specialist just happened to be in attendance and referred her for further investigations. She already was symptomatic when she received her results; I was already pregnant when I learned they were positive.

Burke takes a selfie with her dad Paul.

My dad learned just before my son’s birth that he’d inherited the faulty gene. He kept it secret while holding his first grandchild, knowing our worlds would soon change forever.

It was the hardest thing I’d ever endured, made even more heartbreaking knowing I couldn’t change the timing of my child’s arrival in this world. Many families know their genetic and medical history when deciding to have children. I never had that opportunity.

I spent my free time researching this disease, and my options, in the hope I could gain back some control. There was only one way to end the mental torment: I needed to be tested. It was a risk I was willing to take, just to know. I was fed up with spending each day with my growing baby, second-guessing his milestones, fearful of losing our time together. I couldn’t let it overshadow my life any longer.

My genetic testing journey was filmed as part of a BBC DNA documentary, which followed me throughout my appointments. It captured very personal conversations and the raw reality I was facing, deciding if I’d made the right choice.

Burke’s dad Paul carries her son Cian on his shoulders.

I remember the filming crew stating I didn’t have to be filmed receiving my results. But I wanted to. I needed to. I wanted everyone to see just what one family member’s genetic diagnosis can do, the challenges it brings, and the complexity of individual choices and reasons.

In 2020, I learned I tested negative. The relief lasted seconds until the reality of the situation hit me. My HD chapter is over but now I wait. I wait to hear if or when my brothers decide to get tested. I wait until the day my dad becomes symptomatic, until my nan’s battle comes to an end.

But as I wait, I will use my voice — for those who test negative, or positive, or choose to live in hope. HD took away so many things, but it’s also given me a purpose, an incredible community, and an opportunity to raise awareness.

May is Huntington’s Disease Awareness Month, but every day is an opportunity to fight, support, and raise awareness together. If this experience has taught me anything, it’s that we’re all more than a faulty gene.

In recognition of Huntington’s Disease Awareness Month in May, the Huntington’s Disease Community Spotlight campaign features a series of stories highlighting the real-life experiences of people affected by Huntington’s, written in their own words. Follow us on Facebook and Instagram for more stories like this, using the hashtag #HDSpotlight, or read the full series.