We spoke to Cara-Leigh about her Huntington's journey. From finding out she was at risk through a hospital leaflet and navigating her journey through testing and trying to start a family through prenatal diagnosis (CVS).
Finding out the hard way
Imagine this – You are 14 years old, laying on your bed listening to music and relaxing after having been at school. Your mum comes into your room to present some leaflets from the hospital. Leaflets about a ‘brain illness’ called Huntington’s disease which dad has been diagnosed with.
"I vividly remember the phrase ‘50/50’ used numerous times in these leaflets but I didn’t truly understand what that phrase would go on to mean for me and my family’s future."
All we knew was dad was going to end up poorly and in a wheelchair and that me, my sister and brother were ‘at risk’.
After I’d read the leaflets, I passed them on to my sister so she could read them. It wasn’t anything we really spoke about. She was younger than me by two years so I guess we never registered the massive impact that it would go on to have on our lives.
Looking back, I wish we’d have been able to reach out to the Huntington’s Disease Association at those early stages because even now, it stumps me that children of directly affected adults were simply given leaflets with life-altering words on them. Words that are hard to digest because these words are about someone who inspires you, teaches you, raises you and who you love with all being.
At school, I told people my dad had Huntington’s disease but even at this point I didn’t really know myself what it meant for dad’s future. When questioned about it I found it difficult to find the words I needed to express myself.
Support as the disease progressed
As dad started to progress with the disease, we were all suddenly becoming extremely aware of the implications of Huntington’s disease – his obsession with things, staring off into space and his walking pace slowing down. On the last family holiday we joked with dad about slow he was walking and that he was a snail!
"After that holiday and with the help of the Huntington’s Disease Association, dad moved into a flat with carers who came and looked after his daily needs. Helen James (Huntington’s Disease Association Specialist Adviser) really was a guiding light in our Huntington’s journey."
I was 16 and it was around this time I met my now husband, Matt. Matt absolutely adored my dad and would chat away for hours about films and music. I’ve only since been recently reminded about him giving my dad a signed Iron Maiden album because they both shared such a love of rock and heavy metal.
"As the years progressed, Helen James was the rock that ensured dad had the absolute best in care and support right up until he passed in 2016 after his fiftieth birthday. The help that we were given was given when trying to navigate this new territory was unwavering and for this, as a family, we are extremely thankful for Helen and the Huntington’s Disease Association."
I’m also happy that the tools now available to young children via the Huntington’s Disease Association website vastly outshine those leaflets I read over 20 years ago.
Fast forward to 2019
Now onto my journey.
At this point me and Matt had gotten married and my sister had tested negative which meant her three children were no longer at risk. As it stands today my brother is still untested.
In April 2019 I started to become anxious about my upcoming thirtieth birthday and the fact that dad had started showing Huntington’s disease symptoms in his thirties. It got to the point where I needed to speak to a Cognitive Behavioral Therapist (CBT) and was signed off work. The thirtieth decade for me felt like a ticking timebomb which was simply waiting to shatter my life as I knew it. I had to make a decision and I knew I HAD to find out my gene status.
I trawled the Huntington’s Disease Association website taking on board as much information as I could so I could be fully prepared for the genetic testing process.
That September I had my first appointment and I pushed for all my appointments to be as soon as possible. My mind was simply made up nothing would alter my determination to just know.
"In December 2019 I was told I was gene-positive with a CAG of 42. If I’m honest I felt like a weight had been lifted off my shoulders. Now when I have a lapse in memory, I just blame my wonky brain whereas before my diagnosis I’d pick apart every little thing I was doing ‘wrong’ and automatically assume it was Huntington’s disease and that symptoms had suddenly begun for me."
Starting a family
Since I’d gotten my results, we decided to try for a baby naturally go down the chorionic villus sampling (CVS) which is a prenatal diagnosis route. I had used the Huntington’s Disease Association website to try and figure out what was the right route for us to become a family.
"I managed to fall pregnant in June 2021 and after having had early foetal scans and having the CVS test performed on our baby it came back that our little one had sadly inherited the gene. The pain I felt in those days was like nothing I’d ever felt in my life. I struggled with the guilt for a long while that something so innocent could be entangled in something so sinister but I know in my heart I’d do it all again to protect our little one from Huntington’s disease."
The one positive point in my baby's testing was how amazing and advanced the CVS testing is – I was kept fully informed during the procedure including being told that the needle would feel like a bee scratching.
"If it wasn’t for the Huntington’s Disease Association being there in my life throughout all I’ve been through in my Huntington’s journey, I can honestly say I’m not sure how it may have looked for me or dad had we not had this additional support."
I also met some incredible people along the way including Jenny who’s been my absolute rock because her Huntington’s journey is so similar to mine (we joke that we MUST be related somewhere). I’m thankful for her.
If we were to become blessed with a Huntington’s disease free baby that would be incredible, but we are also being realistic in terms of how long I’d really be fully present in our child’s life.
Looking to the future
Seeing the world is our main priority.
For now, I’m moving forward with my life. I always say to Matt “Don’t ruin the good days worrying about the bad” and we try to fill our lives with fun and joy. We are fortunate to be really happy with great family and friends. We certainly don't let Huntington’s disease overshadow our lives.
My advice would be, if you have any doubt about anything Huntington’s related please always use the tools available on the Huntington’s Disease Association website and seek out the Specialist Huntington’s Disease Adviser in your area.
If you want to get in touch with one of our Specialist Advisers today then please call 0151 331 5444 and we can direct you to an adviser in your area.