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Gene Testing My Children for AS

Like the majority of people with ankylosing spondylitis, I tested positive for the gene HLA-B27. Following my diagnosis I often wondered about this genetic marker and the line it traced back through my family. As far as I knew, no one in my extended family had AS but there was a strong prevalence of bowel disease.

I later discovered inflammatory bowel disease is also associated with HLA-B27

Having two children of my own, I naturally began to wonder if I had passed the predisposition for AS on to them. In the early days it worried me a lot. I felt a real sense of responsibility that I might have sentenced them to future pain and ill health.

According to the UK’s National Health Service, around 8% of the population have the HLA-B27 gene but most of them do not have AS.1 On further reading, this article reported that of the people who do have a confirmed diagnosis of AS, over 90% are HLA-B27 positive. And when it comes to passing the gene on, there’s a 50% chance my children will inherit it from me.

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These statistics left me with mixed feelings

At first glance they were reassuring, but the gambler in me certainly didn’t feel great about those odds. On the upside, current research is confirming the long suggested role environment has to play. It’s often said now that "genetics load the gun, but environment pulls the trigger."

This suggests that we are not merely at the mercy of our genes when it comes to choosing lifestyle habits most likely to prevent chronic illness. And my personal experience (along with my studies into Functional Medicine) show that lifestyle changes after the onset of disease can still have a dramatic impact on symptoms.

With all this in mind I posed the question to my rheumatologist: should I have my children tested?

His reply was a good one. How would finding out change anything?

Other than providing me with some relief if the test was negative, a positive result was still no guarantee my children would end up with AS. In the following years one of my children required some broad-based medical testing and it was discovered that she did in fact test positive for the gene. And, as my doctor had suggested, the knowledge really didn’t change anything.

I still try to impress on both children equally how important it is to take care of their health, eat well, get enough sleep and move their bodies (they’re teenagers so much of it falls on deaf ears!). I still try not to over-react if they mention a sore back or joint pain, watching carefully until it resolves.

All this is exactly the same as it was before I knew at least one of them had the genetic pre-disposition. Knowing hasn’t really made a difference at all.

It’s to be hoped neither of my children develop any kind of chronic illness, but if they do I will be in a good position to support them through it. There’s also the reassurance that the more time passes, the closer the world moves to finding a cure.

This article represents the opinions, thoughts, and experiences of the author; none of this content has been paid for by any advertiser. The team does not recommend or endorse any products or treatments discussed herein. Learn more about how we maintain editorial integrity here.

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