HLA B27 positive

[Olive13]

We have just found out my 17 year old daughter has tested positive for the HLA B27 gene. She has been experiencing back pain for a while now, that has been getting worse and our GP ran various bloods. Does anyone know much about this gene and the conditions linked to it? We unfortunately were told via text message by the GP and she has been referred to Rheumatology but we are still waiting for her appointment to come through, so no opportunity to discuss with a professional as yet. I have had a look on the internet but ended up down a rabbit hole and genuinely terrified for her. I understand that a positive test doesn't necessarily mean that she will have any of the conditions associated, but my worry is that she is symptomatic, therefore it is more likely.

The gene along with back pain would usually lead to a diagnosis of Axial Spodyloartheothapy (ankylosing spondylitis). They should X-ray her spine particularly SI joints as these are most often affected. If they are she would likely be given that diagnosis.
If no disease showing on X-rays and just the gene, they may be cautious and not diagnose anything at this stage and monitor things.
If she is diagnosed try not to worry as there are many preventative measures that she can take herself (exercise and stretching) which massively improves symptoms and prevents worsting of disease progression, plus medication. Easier said than done but please don’t feel terrified, there are many options for her and the disease can do things such as go into spontaneous remission for years.

Thank you @Wanttobeanonhere07 . Most of the stuff that I read around ankylosing spondylitis was very bleak, especially for a person her age. I guess we just wait for the referral and hope that the x-ray shows no disease. If it does show that she has it, it's good to know that are options and sources of treatment. The thought of her being in pain which will progressively get worse breaks my heart.

@Olive13 i’ll pm you

I have HLA B27 but definitely don't have AS. I do have fibromyalgia though. It's not a definitive thing, something like 90% (from memory) of people with AS have HLA B27 but the majority of people with that tissue type don't have AS.

Thank you @Magpiecomplex it's reassuring to hear from people that have also tested positive but don't have AS. I am sorry to hear that you have fibromyalgia, I hope you are doing okay.

Hi @Olive13 I’ve only just seen this.
Did you get a diagnosis for your daughter?
Re AS, have a look on the NASS website if you haven’t already found it.
And just for some non-bleak info, I have AS, and I’ve probably had it for decades. I do have painful flares (no getting round that) but you wouldn’t know I have it, to look at me. I live a totally normal life (just with a few modifications) - PM me if you want more info.

Hi @ZestyBear thank you for your message. It’s really good to hear that you are leading a normal life, I am sorry to hear about your flare ups. We are unfortunately still waiting to see rheumatology, the referral was made weeks ago and still nothing. I’m finding it hard as my daughter is in a lot of pain the majority of the time and I can’t do anything to help her. She is taking regular ibuprofen and paracetamol but it doesn’t seem to help her. She is experiencing pain in her wrists, ankles and fingers, as well as her back. I honestly don’t know what to do. We are going back to the doctor today and I will ask again for them to chase the referral but this hasn’t made any difference when I’ve called them previously. I feel so sad for her and the fact she’s in pain all the time. She’s a happy person normally but I can see it’s impacting her mental health. She’s missing college and can’t go out and really tearful x

Sorry to hear that @Olive13
Where do you live?
(obviously general area, not specifically)
I guess some areas have longer waiting times than others. When I got referred by my GP they originally said I could be waiting up to 12 months, but I actually got my first appointment in less than 2 months (this is at a large London teaching hospital).

Defo follow up with the Doctor though.
About the referral and your daughter’s pain. They might be able to prescribe something stronger for her.
Good luck.

Hello. Same as the poster above, HLA B27 positive and have AS but it doesn't affect my day to day life. Flare ups are very painful but can be managed with anti inflammatories and steroids and I haven't had one since having my daughter 8 years ago. More annoying is the flare ups of uveitis but again these are not a huge deal and now I know what I'm doing can be dealt with pretty easily.

Thank you both for sharing your experiences at living with it. I’m glad that you’re mostly both okay and the flare ups can be managed to a degree.
we live in the south west and I have asked to be referred to the RUH as was informed by another poster that they are a specialist centre, and it’s also very close to our house. The last GP we saw said they could prescribe anything stronger because of her age but I’m hoping that they can offer something else today.

RUH is definitely the place to go.

My DH was diagnosed with AS mid 20’s, now mid 50’s. As others have said it is largely controlled with biologics that he self injects fortnightly (very easy to do), he just has a blood test to monitor things every few months. He lives a largely normal life. I’m not saying it has no impact at all, but I remember being terrified when he was diagnosed and it is not even vaguely similar to what I envisaged. I honestly can’t remember him ever having a day off work and he works full time in a pretty stressful senior job. Do not despair!

The wait is awful, but I hope this allays your fears of what the future might hold if it is AS. If it is, this waiting might be the worst bit, proper treatments will help.

@HippyDays Thank you for sharing this, it really does help to hear positive stories. When I first googled, everything was so bleak and I felt terrified. We saw the GP today and he said that they usually deal with Bristol trusts so didn’t know about RUH waiting times (she had originally been referred to Southmead and I asked them to change the referral to RUH). I have been feeling guilty all day as he pretty much said she would have been seen by now if I hadn’t asked to change. I felt it was the right thing to do, if she does have it then I want people who are experts to be leading on her care. They are going to chase the referral and ask for her to be seen urgently so will watch this space. It’s heartbreaking seeing her in so much pain, you just feel helpless as a parent. They have prescribed naproxen so I’m hoping that will help with her pain until her referral comes through.
Thank you again to everyone who has commented, I really do appreciate it x

I think DH had naproxen initially all those years ago, and that did help - so fingers crossed.
You’ll probably have read about problems with diagnostic delay with AS, where it is not correctly diagnosed initially and can be a long route to finally get there. I’d say waiting a bit longer for a referral to a specialist centre might save time in the long run. I think you have done the right thing, and that was a terrible thing to have said to you, when you are just trying to do your best. No guilt required.

Of course, it may not be AS, but you’ll be in the system then, and hopefully will get some answers.

Let us know how you get on, and good luck with the naproxen.

edit to say: by “you” I mean your daughter, but you know what I mean! I know you are going through this with her.

Thank you for saying that. The guilt is real, especially as she’s in so much pain, I didn’t need to be told that by him today- it had crossed my mind already and was worried that would be the case. The GP referred her for an MRI at the same time as the specialist referral but I’ve since been told that the referral has to happen first and then the MRI. Really good to hear that your DH found the naproxen helpful, hopefully it will help her too.

thank you again, I will keep you updated x

Hi @Olive13
What @HippyDays said about specialist referral saving time in the long run is correct.
Once you’re in the RUH, everything is quicker. And I mean everything. Scans, physio, being able to contact their specialist nurses directly - all of which you don’t have to go via the GP for.
Your GP was not helpful making that comment.

Thank you for this, I feel better knowing that it won’t always be like this. I really do appreciate you all taking the time to message etc x

I’m surprised the GP hasn’t referred her for imaging while waiting/prior to seeing rheumatology because all the rheumatologist will do is refer her for imaging.

i was actually sent for an MRI rather than an X-ray and only after the MRI report said it showed bone erosion in line with AS was I sent to a rheumatologist. Who to be honest was bloody useless and said they didn’t think the changes on my mri were bad enough to say I’d definitely got AS even though I have text book symptoms. So I’m kind of in limbo now.

sorry, just seen your other post saying gp did refer for an MRI but they’re saying appt has to happen first. Guess different places do things differently.

She’s very lucky to get a diagnosis that early. My son was aware early that his back pain might be AS, as I have it, and he tested positive for that gene. He was started on treatment at 18, and now in his early 30s is a very fit, keen sportsman who lives a completely normal healthy life. He’s untroubled by any pains. My experience has been the complete opposite. I had a lifetime of severe episodes of pain, and was eventually diagnosed well into my 40s. If diagnosis and treatment had been around for me in my teens, my life would have been infinitely easier. I wish your child the very best. Get all the scans etc, see a good rheumatologist privately if you have to, to get the ball rolling quickly. They can then hand her off back to the NHS for prescriptions etc.

I’m so sorry to hear that you suffered and had years of pain, I really do feel for you. I hope that your pain is more manageable now and that things are easier for you.
It’s really lovely to know that an early diagnosis has had such a positive impact for your son and that he is living a full and healthy life.
it wasn’t easy with the GP when we first went, she was basically told that it was growing pains but I had a feeling there was more to it and basically insisted on bloods. They were reluctant but agreed in the end (I’m a children’s nurse and would never usually mention this at apps but I did on this occasion as I they just weren’t listening. It’s wrong, but I think this is what swayed it in the end) and I’m so glad for this. Unfortunately I am not in a position to pay privately, I wish I was, so we will just have to hope that the referral doesn’t take much longer.
I hope your son continues to live a healthy pain free life, and that you are also pain free and things are easier for you now x

Thank you for your kind wishes. I manage very well now, and was interested to note that your daughter has been referred to Southmead Hospital, as that is where I’m looked after. I have nothing but good things to say about the rheumatology department, and I also have yearly checks with the specialist AS physio team. They run weekly gym and hydrotherapy sessions at the hospital, and there’s a hot line phone number I can call if things get bad, thus bypassing the GP. But the main thing is getting her the appropriate scans, bloods etc, onto correct treatment, and into the system for ongoing help.

I hope your daughter gets seen soon. I am just adding my own experience here - never sure whether these are helpful or not!
Basically I have Axial Spondyloarthritis (very noticeable changes on MRI plus psoriasis and iritis a few times) and got diagnosed in my late 30s. I had definitely had flares in my 20s and after having kids in my late 20s and early 30s but it got dismissed as muscle pain. I am doing ok!! I do have to be very on top of my stretching and general mobility but so far I am managing without biologics. I'm on Etoricoxib for now as an anti inflammatory. I do have some pain and stiffness in my lower back, feet and ankles at night and in the morning and have had the odd flare (usually provoked by illness or stress) but a good exercise regime and sleep, good diet etc helps me on a day to day basis, and so far Ive had no long term structural damage.

My dad has AS I tested positive for the gene but negative for AS after an MRI. My back pain was due to an old spinal fracture.

Thank you for all of your reply’s. My daughter has been accepted by Rheumatology at the RUH and will have an appointment within 12 weeks. She’s struggling atm, the GP has prescribed naproxen and codeine, will are helping a little but not making a huge difference.
it’s been really helpful to hear in the most that people are finding it’s manageable once treatment has began. If she is diagnosed, I hope it will be the same for her too. It’s just such a shame that people have to wait so and suffer with huge amounts of pain x

We had a phone call today from the RUH, my daughter has an appointment with rheumatology on the 5th November 🫶

That’s great news.

I know it’s still a few weeks but hopefully you’ll get some answers soon.

Hope she’s doing ok on the stringer painkillers.