‘I sensed my GP was beginning to disbelieve me’

“My dad has suffered with ankylosing spondylitis for as long as I can remember. He was diagnosed about 40 years ago,” says Amanda Byrne, who was led to believe the hereditary condition, which is a type of arthritis in the spine causing inflammation and gradual fusing of the vertebrae, was unlikely to affect her.

The literature available to Amanda at the time of her dad’s diagnosis stated that ankylosing spondylitis, or AS, which presents with early symptoms of pain and stiffness in the lower back and hips, was more common in males than females. The hereditary aspect of the condition as a result did not encourage Amanda to be mindful of the possibility of being affected by the condition. When she began to suffer with unexplainable back pain six years ago, the connection with her dad’s condition was not immediately considered and subsequently not deemed a diagnosis by her GP.

The pain became so bad that Amanda could not stand for long without being in crippling pain.

“I tried all sorts of prescribed medication,” says Amanda who documents her journey with AS on Instagram. “As the months went on and nothing seemed to be working, I sensed my GP was beginning to disbelieve me. I ended up in A&E three times. The last time the doctor told my husband to take me to see a psychiatrist as I was in no pain, and it was all in my head. Instead, I went to see a chiropractor who asked me about family history, and I mentioned that my dad had AS and he suspected I too had the condition. However, when I spoke to my GP, they dismissed it and fobbed me off to the pain management clinic in St Vincent’s hospital.”

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This was not a solution for Amanda, who suffers nocturnal back pain, pain or stiffness which improves with movement, fatigue and exhaustion which were initially dismissed as “depressive episodes”.

As AS progresses it can cause your spine and sacroiliac joints to fuse which can result in total fusion of the spine also known as “bamboo spine”. Additional symptoms include swelling of different joints, bowel issues, eye inflammation, compression fractures, and heart and breathing problems.

It is not known what causes AS, yet genetic factors seem to play a significant part in developing the condition. Those with the HLA-B27 gene are likely to be at increased risk, however, not everyone with this gene will see AS progress. There is also no cure for AS and it is not possible to reverse the damage caused.

Amanda finally received an official diagnosis five years after the pain began. She attended the sports clinic in Santry, Dublin, and brought a file containing as much information as possible, including bloods. It was here the doctor asked all the right questions and delved into her family history. After further bloods and an MRI, the inflammation in her body was confirmed as AS and she was referred to a rheumatologist.

Having been through a system that was not overtly cognisant of her symptoms or condition, Amanda recommends that if you are the heir to a chronic illness to educate yourself about it. “If you already suspect you have something and are not being listened to by medical professionals, get a second opinion, a third if needed. Advocate for yourself. My biggest regret was believing medical professionals who made assumptions about me. Never again will I allow that to happen.”

Dr Fergus Glynn, GP with webdoctor.ie, Irelands leading online GP service founded by healthcare and IT professionals, advises that all types of arthritis, including the commonest form of arthritis, osteoarthritis (”wear and tear”) have hereditary potential, though some more significantly so than others.

“Why arthritis develops in a particular individual is felt to be the result of the interplay between genetic and environmental factors,” says Dr Glynn. “In other words, you need to carry one or more of the many gene markers associated with the disease, but the disease will only express itself as a result of certain environmental exposures, often sustained over long periods, such as stress. Therefore, even if you have a parent or a sibling with a severe form of inflammatory arthritis, for example, rheumatoid arthritis, the likelihood of you developing arthritis is very far from inevitable.”

The risk of developing a form of arthritis will vary from individual to individual. However, as Dr Glynn says, even in the case of the commonest inflammatory arthritis, rheumatoid arthritis (RA), if you have a parent (or sibling) with RA, the risk of developing the condition is approximately 60 per cent higher than the general population.

“Which does admittedly sound alarming,” says Dr Glynn, “however, when one considers that the lifetime risk of developing RA is roughly 3.6 per cent in women and 1.7 per cent in men, one still has a far greater likelihood of avoiding this type of arthritis than developing it. And this again speaks to the significant interplay between a host of genetic and environmental factors before RA becomes manifest in a particular individual.”

Early diagnosis is the best means of ensuring a positive outcome and preventing the many negative sequelae of delayed diagnosis. “Consequently,” says Dr Glynn, “if there is a history of arthritis within your immediate family and you are experiencing new, unexplained and persisting symptoms suggestive of arthritis, for example, joint pain and or swelling, stiffness, particularly stiffness in the morning upon waking, then it is essential to attend your GP as a matter of urgency. Your GP will undertake a thorough physical examination and order further investigations such as bloods and imaging as appropriate and can refer onwards to a rheumatologist.

“Early diagnosis can, in many instances, especially with the range of advanced therapeutics available today, prevent the severe and disfiguring joint damage that in the past was associated with inflammatory arthritis and which today patients rarely if ever have to endure. In fact, the majority of our patients with arthritis lead perfectly normal lives unhindered by pain or stiffness or loss of joint function so effective are many of the currently available arthritis treatments.

“Physiotherapy and indeed in some instances occupational therapy have crucial roles in optimising the patient experience and outcomes as part of the now established multidisciplinary approach to arthritis treatment.”