Genetic Counselling: A client's perspective

“I married the man of my dreams in January 2008 and became instant mom to his two boys, looking forward to a happily ever after, but that was not to be.

In April of the same year he was diagnosed with a rare genetic disease that could render him legally blind within a matter of months to years. Everything we’d built our hopes on seemed to come crashing down before us, my husband was still studying and we wanted to have kids of our own. Fears crept in and tension into our house. If only we’d know about genetic counselling at that stage!

Expert after expert visit and a whole bunch of home research the outlook was looking grim. There was NO cure and no reason to why or how he could’ve caught such an awful disease without history of it on either side of his family. Being recommended to you for genetic counselling was an unexpected delight. To understand what was happening to my husband, and ask the very worrying questions circling in my head about our children and our future lifestyle, was such a burden lifted.

What I didn’t expect was to receive so many answers and to find the hopelessness I felt when he was first diagnosed melt away with the understanding you were giving. The unknown is what plagued me most and you explained with case studies, scientific research and picture diagrams exactly what happened and what to expect in the future. What you imparted through that one session was : peace. Peace about something that we can’t control, but now realise we needn’t as you gave us a sense of ownership about our future despite the hurdles we may face.

My husband and I have now got two healthy girls and his disease has not progressed in 4 years. He is one exam from qualifying and although I have to drive most of the time because of his poor site, that seems to be the only inconvenience, if you can call it that. We were living life in a completely different space with regard to his illness before we met you. Worried and fearful, we had allowed our spirits to drop and would’ve made the wrong career and lifestyle decisions, had we not met you and had the honour of your expert advice and input. We also would’ve been unaware of international progress in research and treatment of his specific disease.

You empowered us with the knowledge and time you gave us, so we were no longer victims living under fear.

I am extremely grateful for your time."


“This is by far the best assistance we’ve got so far and on behalf of our family I would really want to extend our gratitude and thanks for this assistance. Words cannot describe the appreciation we have.”

“Thanks so much for this and for all your availability and help throughout this process. I really appreciate your guidance ... made a very difficult process at least more informed.”

“Thank you so much ... We have a lot of piece of mind and things make a lot more sense. So thank you!”

“It was an absolute delight speaking to you. Thank you so much for the information. I truly appreciate it.”

“Thanks again for listening to me and the advice.”

“Thanks so much for the information and guidance. Much appreciated. ”

“Thanks for all your advice and care. I learnt a lot and know a lot and I have already spoken to all my family members about the chat I had regarding all.”

“Thank you for your interest and concern, we really do appreciate it. It has been a nasty blow for us all.”

“We have our off days, but in general things are not too bad... Thank you again for your understanding and support.”

Referring doctors:

“Thanks for your thorough, detailed counselling and assessments of these special patients. Your kindness and professionalism is so appreciated by me and all of the patients!”

“Thanks for the report. It sounds as though you have been very helpful for the family. The report has also been helpful for me, as at least I know if I am doing the right thing for them. Thanks.”

Email queries:

“I am so touched and very appreciative for your in-depth response. Thank you so much for taking time out of your busy day to reply to my e-mail. ”

“A fantastic description. Thank you.”

“Many, many thanks for your kind assistance which I appreciate”

Feedback on our talks:

“The talk on Duchenne and Becker muscular dystrophy was very interesting and helped people understand the cause, inheritance and risk of the genetic disorder.”

“The talk was informative and the speaker is clearly an expert in the field.”

“It was interesting to hear the latest developments on genome testing and the potential uses. We look forward to seeing how this will influence the way we underwrite in the future.”

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