NP-C Corner Special Edition by Dave Badcock, Melbourne University Student
I was shocked. Sitting at the Australian NPC Conference this year, I overheard a parent ask why her family was not encouraged to speak to a genetic counsellor during her child’s NPC diagnosis journey. I thought: “How could they not be supported? Do people (professionals and the community) really know what a genetic counsellor is, or what they do?”
I would like to share what I know so that the NPC community is aware of these incredible people doing incredible work. My name is Dave, and I am a current Genetic Counselling student volunteering with the ANPDF.
Throughout the process of testing, countless appointments, confusing words, new doctors, drug names and more, it’s safe to say the journey of diagnosis can be a really challenging time. I like to think of the role of a genetic counsellor as making this journey a little less complicated.
Whether helping to clarify your understanding on a condition, to assisting with health services or treatment. Genetics counsellors can assist you with many of the factors that make diagnoses so tough. They are there to listen to your thoughts and feelings, because they know how challenging a diagnosis and treatment journey can be.
So, what really is a genetic counsellor you may ask?
Well, they often work in hospitals, but they’re not doctors, they’re also not psychologists. They are qualified counsellors, who have also been trained in genetics. Equipped with both a genetics background and counselling skills, they facilitate informed decision-making. They are there to listen and support you in the choices you make.
Lisette Curnow (a practicing genetic counsellor) gave an insightful presentation at the 2024 Australian NP-C Conference in Melbourne. Lisette’s talk was focused on stripping back some of the terminology and science into understandable language. She looked at how NP-C is inherited, how it affects families and some strategies around communicating within a family.
Speaking to members of the audience, they appreciated how straightforward Lisette spoke. They respected how the information was relevant for them and that she made the time to answer people’s questions… the perfect example of a genetic counsellor!
But what does the community think about genetic counsellors?
I recently spoke with Deanna Carpino, the General Manager of the ANPDF and a proud NP-C mum of two. She talked positively about her experience with genetic counsellors when undertaking her boys’ diagnoses. Deanna spoke about their patience and use of relatable language.
“Leaving me feeling empowered to make informed decisions” about the genetics of Niemann-Pick Disease, future medical appointments and what to expect on journey to having a second child.
I admit I may be biased; however, I think genetic counsellors occupy an invaluable role in the ever-evolving healthcare system.
I want the NP-C community to know genetic counsellors are here to help.
Want to get in touch? Ask your doctor to get you in contact and we will do our best.
Dave
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