Ankylosing Spondylitis and epigenetics - why me?

I have a condition called ankylosing spondylitis or AS for short. As I openly share this is both the best thing and the worst thing that has ever happened to me. Throughout my late teens and early twenties I lived life never knowing whether I would wake up in the pain the next day or how long it would last. I certainly was not living the life I wanted to. 

What is Ankylosing Spondylitis?

AS is a chronic inflammatory disease affecting the spine where the spine has the propensity to fuse. Greek ankylos meaning to unite or grow together, spondylos meaning vertebra, and -itis meaning inflammation. 

I explain it to people as similar rheumatoid arthritis just in your spine. It is an autoimmune disease so in simple terms my immune system has gone wrong and has decided that part of me looks foreign so let’s attack it. It causes inflammation of vertebrae that can lead to severe, chronic pain and discomfort and restriction of movement.

AS can also cause inflammation, pain, and stiffness in other areas of the body such as the shoulders, hips, ribs, heels, and small joints of the hands and feet. Sometimes the eyes can become involved (iritis or uveitis), and the lungs and heart can be affected.

But why me? Why did I have to get this disease? 

AS is closely correlated to the positive expression of a gene which expresses a protein on white blood cells called HLA B27. It is estimated 90% of patients with AS have this gene expressed (but this depends on your ethnicity), but only about 5% of HLA-B27-positive individuals develop the condition. 

So yes I have inherited the HLA B27 gene from one of my parents and have predisposition to this condition, but why did I have to be part of the 5% that gets the condition?  What did I do to kick the HLA B27 into action?


‘Your genetics load the gun but the environment pulls the trigger.’ Chris Kresser

At school we learnt lots about genetics. That our genetics which we inherit from our parents held the key to preventing and reversing disease and determine our destiny our DNA . Correct - no.

As Chris Kresser quite rightly says - ‘Your genetics load the gun but the environment pulls the trigger.’  Yes we are comprised of the genes that we inherited from our parents which our unique to us but whether such inherited genes are turned on or turned off CAN be influenced without the underlying genes themselves being changes! This is the science of “epigenetics”.  

This means our environment which modifies the expression of our genes —not our genes—is the primary driver of health. 

So what does this environment include? 

It encompasses anything that can impact on our bodies and we are in control of some more than others.  It includes:

  • External factors - diet, exercise, water, personal care products, lifestyle choices like smoking, infectious agents, chemical pollutants, stress, the way we are born, our mother and fathers health at conception and during gestation and much more.

  • Internal biological factors -  metabolism, the gut microbiome, inflammation, hormones, and oxidative stress 

  • Other factors like climate, stress, financial stressors and more.

From this list you may think it is all doom and gloom. But I see it as exactly the opposite. We can choose the way we live our lives and if we live it in a more healthy, less stressful way that is more nourishing to our bodies and supports ourselves in reducing the onset of conditions we maybe predisposed to. Yes it is no guarantee that we won’t get health conditions, and we can’t blame ourselves when we do get conditions but we can play a part. 

So what did I do?

So back to my AS. What did I do to influence the expression of my HLA B27 gene? Ultimately I don’t know and will never know so arguably it doesn’t matter but I if I lived my teenage years again there would certainly be things that on reflection I would have done differently to have perhaps enable me not to have triggered the condition.

In short - three things that I would have changed in I lived my life again would be:

  1. Eaten much less sugar - I now realise that drinking copious amounts of lucazade and eating other refined carbohydrates is not necessary for sport. We don’t have to have to rely on these short term energy sources for energy and these sources of fuel would have just stressed my body out. They would have sent my blood sugar regulation system into over drive, depleted me of vital nutrients, caused inflammation and impacted the balance of gut flora in my gut. Alongside this I loved puddings (dessert), ate toast from the school common room (with honey, chocolate spread, peanut butter) like it was going out of fashion as well as large portions of rice and bread.

  2. Not taken the hormonal contraceptive pill - I took this at 17 for the sole reason of stopping my periods whilst I went on a 6 week trip to in Greenland. It was trendy and cool and afterwards I just kept on taking it despite having no need to do so (this is probably what I regret most). The pill is full of synthetic hormones, not bioindividual to you, it masks underlying hormonal issues. But perhaps more relevant to me - it acts like an antibiotic in your gut, contributes to nutrient deficiencies - I probably had underlying gut dysfunction going on anyway - as does anyone with an autoimmune disease - and this would have just made it worse.

  3. Stressed less and slept more whilst at school - I never used to get enough sleep and used to put myself under such intense pressure for my GCSE and A level exams and then my degree. I stayed up late studying and cramming as I didn’t have the faith in myself to do well if I didn’t. I did this accompanied by drinking Diet Coke and red bull and eating chocolate which in addition to the stress and no sleep would have stressed my body out no end and I was constantly in the sympathetic state. By the time it came to exams I was a nervous, exhausted wreck. Learning to sleep, relax and have perspective would have been revolutionary - although definitely easier to say so in hindsight!

I will share more about these in upcoming posts as I want to support people in making more informed choices that could ultimately means they don’t end up with the pain that I suffered and loosing their ability to do what I wanted in life. As I said the reasons above may not have been the reason why I ended up with my condition but my changing the above would only have positive impacts on your health.

In the mean time - the take-home message is that the choices that we make in every day life can impact whether genes we inherit are expressed which can then influence our health and wellbeing. How exciting is that? We have more control than we think.

Yes we may be predisposed to a condition but are we living our best life that best supports our genetics?!