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NP-C Corner: Storytelling DNA

Our DNA can tell us more information than you might think. As ‘the codebook for life’, it has many stories to tell.


Your DNA can give us insights into your unique story.

For example, we can trace back your ancestry, test how your body may react to foods, and even predict how you can react to some medications before you take them.


Genomics, the area of science that investigates all DNA, can also be used throughout your lifespan to help inform your clinical care.


Below are just some examples of when genomic medicine can be used.


Image adapted from: Shendure et al., 2020


These tests, often only requiring saliva or a small amount of blood, can provide a wealth of knowledge that can be used to help maximise your health!


As explored in a previous blog post, carrier screening is a great example of genomic testing that can dramatically change the lives of people and their family planning choices.


Storytime


I would now like to introduce you to Cindy.


Cindy is an excited and slightly nervous (fictional) first-time mother. She is 11 weeks pregnant and is currently considering what prenatal testing she would like to do.


There are a couple of options, but she decides to undergo a non-invasive prenatal screening (NIPT). This screening test looks at the developing baby’s DNA in the mother’s blood.


Not long after submitting the test, Cindy received her result.


The doctor tells Cindy that her baby has a high chance of having a serious genetic condition, and more diagnostic testing is needed to confirm this result.


After more accurate testing, she received a diagnosis from a genetic counsellor. Cindy was shocked and worried about the future of her baby. After more talking, the counsellor explained that treatment was available.


Months later, Cindy gives birth to a beautiful girl, Sarah. She starts the treatment that gives Sarah the best chance of living with her condition. Sarah still has some minor health complications but has the potential to live a healthy life!



As shown in this story, Genomic testing can be lifesaving!


It can provide families with answers and hope.


Without this genetic screening test, there was no way of knowing that Sarah had this condition and the family would not be able to access early treatment. Sarah may have become ill without anyone knowing the cause of her illness for some time.


Being able to identify the condition your loved one is presenting with is often a long and very stressful time for families, as many NP-C parents will know. Genetic testing is an option to identify known conditions much earlier so treatment can begin as soon as possible.


In the case of Cindy, her chances of a ‘normal’ pregnancy journey were lost. However, the new path doesn’t have to be grim. With tech development and a better understanding of genomic medicine, babies like Sarah have a better chance of living their life to the fullest.

Prenatal testing is just one example of genomic testing. There are so many other areas where this testing can make a real difference in people’s lives.


I understand that Cindy’s story does not entirely reflect the NP-C experience, as there is not yet a highly effective treatment for all people diagnosed. However, with more research and time, this may be the future of the condition.


I wanted to write this post to show you what this testing can do and how it helps people.


I hope that genomic testing is a little less mysterious now. It really is an exciting area that could lead to more diagnoses, support, and treatment.


Stay supported and supportive,


Ellie

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