My diagnosis story

My current diagnosis is Seronegative Spondyloarthritis. This diagnosis is not exact as it describes a family of related conditions including:

• Psoriatic Arthritis (PsA) – peripheral arthritis with or without axial arthritis usually with skin or nail psoriasis (or a family history of skin or nail psoriasis in first degree relatives)
• Ankylosing Spondylitis/Axial Spondyloarthritis (AS) – predominantly axial arthritis characterised by inflammatory back pain though people with AS may also commonly have arthritis in shoulders and hips – can also have arthritis in other peripheral joints but not as common as shoulder and hips
• Reiters syndrome/reactive arthritis (ReA) – arthritis which occurs after certain infections in certain individuals
• Undifferentiated Spondyloarthritis (USpA) – arthritis which is seronegative but does not yet fit the criteria of the first 3 conditions

So what does seronegative actually mean? Well in this case it generally means you have no autoantibodies in your blood and you have a negative rheumatoid factor which means you are not seropositive. What is interesting about being seronegative is that almost 50% of people with seronegative arthritis do not have elevated inflammatory markers in their blood which means that it can be even harder to diagnose. That is partly why the diagnosis of seronegative arthritis can be so much longer than those with seropositive arthritis.

My diagnosis is classed as a Seronegative Spondyloarthritis because it isn’t entirely clear what I have. I have peripheral joint arthritis affecting loads of joints but I also have axial arthritis which started in January 2016, 8 years after my first peripheral symptoms – interesting ey? I also do not currently have autoantibodies in my blood, although I have in the past which added to the complexity of my diagnosis, and I have never had elevated inflammatory markers, which again contributed to a delayed diagnosis.

So how did my symptoms start? And how did I get diagnosed? Well that is a long story!

Back in 2008 when I was almost 12, I started getting a lot of hip pain. It came on gradually and slowly got worse. We all initially thought the pain and stiffness was because I had been a competitive swimmer and had stopped training suddenly when I had lost interest in the sport, and so we put my various aches down to the sudden change in activity levels. Though I should add, I was still very active with athletics, football, netball, hockey, cross-country, rounders, cricket and pretty much every other sport my secondary school offered. I found that on a morning I was getting stiffness lasting for over 45 mins, which gradually increased over the years, and I found that sport helped to reduce the pain and stiffness I was feeling. When it became clear that my joint pain was not caused by a sudden change in activity levels, we thought that my symptoms were caused by hypermobility or growing pains.

Between 2008 and 2010 I saw 7 different physios to be assessed and to get treatment, and to get intensive physiotherapy which, unfortunately didn’t particularly help with the pain though we maintained good range of movement and strength. After doing so many rounds of intensive physio I was referred to a rheumatologist who specialised in adolescent rheumatology because 1) we didn’t know what was going on with my joints, 2) my symptoms were inflammatory in nature (better with movement, worse with rest, lots of morning stiffness), 3) I had done a lot of physio and wasn’t getting a lot better, 4) I have a very strong family history of autoimmune joint conditions and related conditions including seropositive arthritis (RA), seronegative arthritis (PsA), lupus (SLE), psoriasis and uveitis (an inflammatory eye condition that can present with inflammatory arthritis, usually seronegative arthritis) and 5) I was starting with pain and inflammation in ligaments and tendons, symptoms of enthesitis which are hallmark of spondyloarthritis. 

Part of what contributed to a 2 year delay in referral was that I had injured my shoulder and found it really difficult to articulate that the mechanical pain in my shoulder was very different to the inflammatory pain in my other joints, which definitely put the healthcare professionals I was seeing off the trail of something autoimmune for a while. This was partly due to time pressures on healthcare professionals meaning they feel like they can only focus on one pain at a time. I was asked at every appointment where I was sore, and before I had even listed a third joint (out of many), I was stopped and asked to talk about the sorest joint, which meant that it was very rare for people to hear a full list of affected joints. This definitely affected the relationship I could have with the healthcare professionals as they weren't engaged in the conversation enough to hear my concerns. The turning point came when I drew a diagram with my affected joints that listed how sore each joint was and how long the morning stiffness lasted which was one of the main things that got me referred to rheumatology in the first place.

I also feel that my diagnosis was further delayed by the fact that the patient-professional relation was strained, partly because my joints weren't responding the way mechanical joint issues were supposed to, and because of that one professional questioned whether I was making my symptoms up for attention. That one question lost that professional all of my trust, and completely invalidated my pain and symptoms, which is something that no one should feel.

A second issue that delayed my referral was that I never swelled massively, and even now, after having arthritis for 9 years I find it really difficult to assess my joints and identify swelling because it usually is quite subtle – i.e. my joint will look normal or a bit less defined than the opposite joint, but if I give it a squeeze it can feel a lot boggier (squishier) compared to my joint on the other side.

My first rheumatology appointment in November 2010 confirmed that I didn’t have hypermobility, or growing pains, but that it wasn’t clear what I had, though my rheumatologist was suspicious enough of something autoimmune that she kept me on her patient list and followed me up every 6 months. My first diagnosis was “arthralgia with morning stiffness” meaning I had sore joints and morning stiffness, which lasted for about 12 months. This is where things get a bit complicated, my bloods didn’t show inflammation but I was positive for anti-nuclear antibodies (ANA) which is linked to lupus, but my symptoms didn’t meet the criteria for lupus so my diagnosis was changed to “ANA positive arthropathy (does not quite meet criteria of lupus)” – well what the heck does that mean? Do I have lupus? Don’t I have lupus? Well studies suggest that more than 20% of a normal, healthy population can have a positive ANA and because I didn’t have any symptoms of lupus other than joint pain, morning stiffness and fatigue, we decided I didn’t have lupus.

In 2013, for some reason or other, I was lost to follow up with rheumatology which means between my last appointment in January 2013 and my next appointment in June 2014 I didn’t see a rheumatologist for 17 months. Fortunately, they were a relatively stable 17 months for my joints, and I was well controlled on NSAIDs alone but I did develop costochondritis which for me was persistent pain where my ribs met my sternum and bursitis at my hips (trochanteric bursitis). Because of this, and because I wanted to go camping in June/July 2014 my GP prescribed me a short course of oral steroids which not only completely resolved my bursitis and costochondritis, but also every other joint pain I had! So for the first time since 2008, I didn’t have any joint pain or stiffness! That confirmed the diagnosis of something autoimmune, so at my next appointment in November 2014, I was diagnosed with inflammatory arthritis – 3 months after I started university and 6.5 years after my symptoms started. The weird thing was that my ANA was now negative making my arthritis seronegative inflammatory arthritis. I was started on a non-immunosuppresive DMARD called Hydroxychloroquine which interestingly used to be used as an anti-malarial medication, and interferes with inflammatory pathways though no one is 100% sure of the mechanism. This is one of the safest DMARDs out there, but a rare side effect is retina toxicity so you need to get your eyes checked every 6 months while you take it.

Hydroxychloroquine worked for a while, but in December 2015 I started to get back pain. I initially ignored it, but on New Year’s Eve – New Year’s Day, it was so bad that I couldn’t even enjoy the New Year’s celebrations and had to sit down in the club and watch my friends enjoying themselves. This turned out to be inflammatory back pain, and would wake me up in the second part of the night, would swap from one buttock to the other and would get better with movement/exercise and worse with rest. After that I decided that hydroxychloquine alone wasn’t cutting it for my other joints either and at my next rheumatology appointment my registrar decided to add in an immunosuppressive DMARD called Methotrexate. Methotrexate is taken once weekly via tablet or self-injection, can interact with alcohol and requires monthly – 3 monthly blood tests to monitor its effect on the liver, kidneys and immune system. I started on the tablets on a low dose of 10mg, which we then increased in May 2016 to 15mg in tablets because I had started with an interesting flare in my right sternclavicular and acromioclavicular joints in the April. Because of my new inflammatory back pain on top of my other joints, my diagnosis was changed again to “Evolving autoimmune disease, seronegative spondyloarthritis” in August 2016 – interesting right? So basically it wasn’t clear what was going on with my joints but because of my spinal involvement it is a Spondyloarthritis, we just don’t know which type yet. The thing about methotrexate is that it doesn’t always work for spinal symptoms, it is a lot better for peripheral joints, but fortunately my spinal symptoms were quite controlled by NSAIDs until January 2017.

This flare persisted through to August 2016 when I was given an intramuscular steroid injection which worked for a month. I also switched to methotrexate injections as at 15mg this increases your absorption of the medication significantly (you absorb approx. 100% of methotrexate via injection vs approx. 70% of methotrexate via tablet), and reduces the nausea that people can experience with methotrexate. Unfortunately increasing the dose of methotrexate can take around 12 weeks to fully kick in and my steroid injection only lasted a month so my shoulder symptoms increased in that time to the point I was waking up every 15-20 mins because of pain. At that point, my rheumatologist called in a steroid injection into my shoulder which fortunately worked for a good 3 months, but my joints were still not completely controlled with the methotrexate. By the time my next rheumatology appointment came in March 2017 I had 10 swollen joints, 15 tender joints and still had inflammatory back pain. Because of the nausea I was getting with methotrexate I was reluctant to increase my dose again which meant that we chose to add a biologic using the Ankylosing Spondylitis Biologics Pathway because of my spinal symptoms. This is another immunosuppressant which targets a specific protein in the inflammatory pathway called the Tumour Necrosis Factor (TNF) and by inhibiting the TNF protein, in theory should reduce the inflammation at my joints (you can read about the assessment process in my previous post). I started this on the 31^st May so I should know by August if it is working.

So basically between my symptoms starting in 2008 and finding out my arthritis is definitely a Spondyloarthritis and getting on appropriate treatment in 2016, there was an 8 year delay – which unfortunately is close to a typical delay in diagnosis for most people with Ankylosing Spondylitis at the moment, but I have been extremely fortunate to be followed closely by rheumatology for the majority of this time and was treated in line with what my immune system was doing at the time because I have never been a clear-cut case.