Daniel Aitchison
Daniel Aitchison is the father of Talia who has the rare genetic disorder KCNA2.
Watch the talk
5 minutes with… Daniel Aitchison
In this powerful and personal talk, a father shares the emotional journey of his daughter Talia, who lives with KCNA2-related epilepsy and severe autism spectrum disorder. From the shock of her first seizure at 18 months, through ICU stays and genetic testing, to finally receiving a rare diagnosis, this story reflects the resilience and advocacy required of families facing complex neurodevelopmental conditions.
As a nurse and a parent, he describes the difficult process of seeking answers, being dismissed early on, and the unexpected discovery that he, too, carries the same genetic variant. He speaks openly about the challenges of navigating treatments, managing behavioural needs, and maintaining mental health within the family.
Topics include:
- Talia’s early development and seizure onset
- Delayed diagnosis and the role of parental advocacy
- Discovering a KCNA2 genetic mutation
- Coping with autism, epilepsy, and nonverbal communication
- The emotional toll on parents and the importance of support
This honest and hopeful video is a must-watch for caregivers, clinicians, and advocates working to better understand the lived experience of rare epilepsy syndromes and the families they affect.
Read the transcript
Thanks everyone. It’s a bit daunting to come up and talk to you here. I talk to a lot of people in my day-to-day work, but when you’re talking about your own personal things, it’s a little bit of a different story.
I’m gonna talk to you about Talia.
So Talia was born on the 7th of April, 2021 in Adelaide. And to my wife Genevieve and myself, normal development up until about 18 months. The picture up there on the right hand side for me is a literally at the 18 month mark when Talia went to get her vaccinations at the local gp and all of a sudden had a massive seizure before she had her vaccinations.
So from that point onwards, we were just working through what is going on here. The challenge for us was, and initially when we presented from the GP to the emergency department and subsequent presentations, we were being told that was breath holding, was doing other things.
And myself, I’m a nurse by background and I knew that wasn’t the case. Ended up to the point where. I was videoing what was happening. I actually had to send that to a pediatric neurologist I knew in South Australia to get them to review the footage and to make some calls and to actually get Talia seen in the way she needed to be seen immediately.
So we we went through this bit of a whirlwind journey as a lot of parents probably do, and in the initial phases and until, so from about 18 months that the next six months was quite chaotic, I think in a lot of ways is the best way to describe it. We, Talia was given quite a number of medications.
We weren’t really talking about genetic issues at this point in time. We were just trying to work out is it gonna be medication controlled? Probably similar to you, Leah, we thought, oh yeah, this will be something epilepsy’s not that bad, we’ll control it. Ultimately what happened was we got Talia’s genetic report back and it had kcna two as the variant The doctor said to us, look, it’s very rare, pretty unlikely that this is just a de novo presentation, but we’ll screen you and your wife.
The interesting part is that I actually carry this genetic mutation as well and have never had any issues that I’m aware of through this journey either. So that presented a few extra challenges for us, and particularly around the genetic counseling side of things as well. So this is early on before the diagnosis.
And as I’m, and I’m, and the pictures aren’t there to everyone’s got their story as well, but this was a Christmas in ICU just working through managing some of those real acute phases with her. But the good news is, after you go through all the medications, the good news is that she’s a beautiful little girl.
So she turned four last month and we are working through a lot of challenges, but she’s getting stabilized from a medication point of view. And really our big challenge at the moment is really probably just around the diagnosis of autism spectrum. Level three, which is quite severe for Talia.
She’s nonverbal. But she’s got a beautiful smile.
I think it’s really important, or, and I’m happy to be vulnerable about this, that mental health component cannot be underestimated. It’s incredibly tough for families and relationships and we need to look after each other. I think that’s amazing having this group of people that are doing that.
And I just encourage you to continue to be strong, to continue to work together and support each other. Thanks.