Still no diagnosis... don't know what to do

phoebemonkey

I'm not really sure where to start. I'm 25 and have had various joint pains since I was 14... my dad, his mother, brother and sisters all have joint pains/rheumatoid arthritis/osteoarthritis.

The pains started in my hands/wrists and ankles and have slowly increased to my knees, hip, shoulders, neck and back. I'm pretty clumsy and have had lots of injuries/sprains etc so have had lots of physio. I still go to a private physio every 3-4 weeks to try and help the pain. My wrists are particularly bad at the moment - feels like someone is squeezing them and there's stabbing pain going through my fingers. I've been tested for carpal tunnel syndrome in the past but it was negative.

I've basically been struggling along on a high dose of ibuprofen for the past 4 years. Various doctors and consultants have fobbed me off, saying I'm too young to have problems, my tests are normal or I don't have any swelling.

In February I became ill, with severe abdominal pain and various other symptoms. My GP tried several different antibiotics but I ended up in hospital for several days. The doctors don't seem to have a clue what's wrong with me (originally thought kidney infection) so I am still undergoing tests. At the moment they're investigating inflammation in my bowel.

Anyway, my current consultant (a private gastroenterologist) was shocked I'd been on ibuprofen for so long and immediately took me off it. (He originally thought it was causing my pain, but after being off it for two months my tests results are now even worse!) I'm not allowed any other NSAIDs and paracetamol and co-codamol have no effect on me. I'm taking tramadol for the abdominal pain, but it has no effect on my joints. They have gotten dramatically worse to the point I can barely walk some days without crutches. But if I use crutches then my wrists/shoulders start flaring up!

I finally got referred to a (nhs) rheumatologist last week and was really hoping he'd have some suggestions. But he didn't. The attitude seemed to be "well you can walk, your blood/x-ray is normal and you're not all red and swollen so you must be fine." He said I 'would' develop RA but didn't have it yet. Then he said I should go back to my GP and ask for painkillers!! What does he think I've been doing for 11 years?!

I'd written out several pages of information about my current pain, when it started, family history and medications I'm on/have tried. I struggle at verbal communication because I have autism (which he knew) but he only briefly looked at my notes and then asked me what I'd written anyway, which was frustrating. He was a registrar and was originally going to make me a follow up appointment in a few months but after talking to the consultant just decided to tell me to go away.

So now I'm completely stuck and feeling really low. Nobody seems to realise just how much pain I'm in. I have an allergy to colourings so am severely restricted in what medications I can take, and the ones I'm on aren't helping.

I have private medical insurance (paid by my parents) but it excludes all my joint pains/back pain because they are 'pre-existing conditions'. Which is really annoying. The local NHS don't seem to give a damn (except for my brilliant GP) and haven't bothered investigating anything other than RA.

I don't know what to do.

DebbieT

Hi,

I'm so sorry uve been left struggling & in so much pain

U sound so fed up & frustrated, I can understand y :? Has anyone suggested Fibromyalgia to you? I don't know ure full history obviously & I'm not a Dr but it could be something worth asking about!!

I really hope you get answers. Good luck.x

bubbadog

Hi,phoebe do you know that could have been written by me slightly younger than you are now but yes it could have been written by me!! I'm shocked!! I had to fight and even went private twice to try another avenue! But it was only when a new G.P (who I'm still under!) joined my G.P surgery and read my file and put a line through it and started from the beginning that things started to go right for me. It is horrible and I know how utterly deflated and desperate you must feel. You say you have a good relationship with your G.P which is a good start, Where do you come from? You say you have private health insurance and it says it doesn't cover you for your joints, what about nerves? As some pain could be due to nerves, it maybe worth going down that avenue as well? It's all about going through everything and ticking it off! That's what I had to do! I was not officially diagnosed with Osteo-porosis till around 8-10yrs ago! As for stomach pain yes I suffer with that as well!!! I will just say Hyoscine Butlymide (sorry about spelling!) I hope we could stay in touch as I know exactly what you are going through and we maybe able to help each other!! bubbadog

Keren

Hi Phoebe,

Have you been tested for Joint Hypermobility Syndrome? Some of the symptoms you're mentioning reminds me of that, particularly the 'clumsy, lots of injuries/sprains' thing. I also know that it can cause gastro problems. See here http://www.dwp.gov.uk/publications/specialist-guides/medical-conditions/a-z-of-medical-conditions/joint-hypermobility-syndrome/ for a symptom summary.

But yes, I feel your pain - I think anyone who doesn't have a straight-forward case of arthritis with obvious inflammation markers really struggles to get a diagnosis. I'm also in the same boat, from seeing a registrar. I've managed to get back in to see a consultant, and am going to be very insistent that I see a consultant and not a registrar. Have you asked your GP about getting a second opinion from another hospital?

Keep your chin up. x

Keren

barbara12

Hello phoebemonkey
And welcome to the forum, I am so glad you have found us...you really needed to get all that out and we are here to support one another.
My advice is to get a second opinion, there are many on here that have struggled to get the right treatment, because they aren't taken seriously
Its just not fair how they can get away with this, so you have done the right thing putting it all down in a letter ,go back to your GP and tell him or get your parents to.. that you are not happy about your treatment...they are paid very well to look after you and are not doing there job.
If you get no joy then I would contact Pals it is a voluntary service for patients,it might be called something else depending on were you live, but they should be able to help you
Please let us know how you get on....and I do wish you well with it all xx

dreamdaisy

Hello phoebemonkey, I have read through your post a couple of times and honestly don't know what to say. It took me a few years to find out what was going on (mainly because my then GP kept fobbing me off) - if I had known then what I know now I would have been much more pro-active in getting to the bottom of my troubles. Hey-ho, no matter.

I think the others have said all that I would but I would urge you to keep trying to get someone to listen. Does somebody go with you to your appointments? Sometimes it can be a bonus to have another pair of ears and another voice. In the meantime come and talk to us - we are not doctors but we are all battling the same kinda stuff and we are a kindly, supportive bunch. I wish you well. DD (who has PsA and OA)

phoebemonkey

Thanks everyone. I wasn't expecting to get such a warm welcome! All your replies are really helpful.

Nobody's suggested or investigated anything other than RA basically. I did look into fibromyalgia at one point, but I don't have the specific points of pain you're supposed to have to get that diagnosis.

I did see a private orthopaedic consultant when I was younger (20) because I had injured my back and developed really bad sciatica down both legs. He was convinced I had a trapped nerve or something until the MRI was normal and he just lobbed me off with some ibuprofen as per usual.

My private insurance is very restrictive and wouldn't cover anything to do with joints/muscles/nerves in back/legs etc. Annoyingly I was covered by my dad's insurance when I was younger, but they took me off it when I turned 21, without telling my parents I could still be on it until I was 25 if I was in education! So I don't think it's very fair that things they used to cover are now excluded because of their error. My dad tried fighting with them, but they wouldn't accept it was their fault.

I live in Glasgow (and my family live in Edinburgh) and the NHS aren't particularly great up here. My GP is wonderful but she's at a loss as to what to do with me at the moment. All my blood tests/x-rays have been normal and it's ****'s law that my joints are never at their worst when I'm seeing any medical professional! She's tried giving me every kind of mild/moderate painkiller I can take (which is how I ended up on tramadol) and is also trying nortriptyline (like amitriptyline) which doesn't seem to be helping.

Usually my mum comes with me to appointments (except with my GP, since I know her well), but a woman (that knows me well) from the local Autism Resource Centre came with me to see the rheumatologist. She has RA so was quite helpful, but in the end I still didn't feel like I got taken seriously.

Nobody's mentioned joint hypermobility syndrome either, but it could be a possibility. I was very hypermobile as a child and had lots of problems with my knees and fingers locking/bending backwards, and with the arches in my feet collapsing since they were too flexible. My mum took me to a physio when I was 7/8 but they just said it was good I was so flexible and that the only thing that would have fixed my feet was an operation when I was 3! Useful. I'm not quite as flexible anymore, but my knees still bend the wrong way and I can touch my thumbs to my wrists. Because of my autism I have bad proprioception (knowing where your body is in space) so I constantly stand with my knees hyperextended without realising. Have gotten told off by numerous physios for doing that!

I think there's a hypermobility syndrome clinic here in Glasgow, but you have to be referred to it by a rheumatology consultant, which isn't much help.

I'm going to go see my GP to tell her how frustrated and disappointed I was about the rheumatology appointment, but she's on holiday until the 18th, so I'll have to wait until then. I'll ask her if I can get a second opinion/if she or someone else can investigate the possibility of hypermobility syndrome etc.

The other possibility at the moment seems to be something to do with my gut, like Crohn's Disease, since sometimes it can have joint pain/arthritis as a symptom. My great uncle has it so it's in the family, and the test that caused me to be taken off ibuprofen was abnormally high, although not quite as high as it would be for most people with Crohns/IBD. I have more tests in hospital (private one) on Thursday so hopefully that will show up something.

I'm just tired of nobody believing that I'm poorly/in lots of pain

daffy2

Hello phoebemonkey
So sorry to hear about your problems and the difficulties you are facing trying to get answers.I expect this has already been done in connection with the bowel investigations but as you mention autism I wondered if you had been checked for gluten and dairy intolerance? There has been quite a lot of interest in this in recent years and I know that when my daughter was an au-pair in America for a little autistic boy and was able to enforce the gluten and casein free diet he was supposed to be on that it made a big difference to him. The colic and constant soiling, as well as his general behaviour, improved dramatically.
Your reply landed as I was about to post this and I see that you are to have more gut investigations so perhaps this will be checked out as well if it hasn't already been done.

lizzy100

Sorry you've suffered so long without a diagnosis, thats awful. I thought a year was bad enough! I have inflammatory bowel related arthritis, however I think with that the arthritis normally starts after the bowel problems. it sounds like if theres joint problems in your family its more likely to be a hereditary thing. Do you get much swelling, redness etc? If you do, take photos of it, so you can show the rheumm. thats what i did.
i really hope you get somewhere.

Starburst

Hi Phoebe,

Sorry I didn't see your post earlier. I feel for you that you've been going through this for so long. I had a really bad first rheumatologist appointment, he told me I was a bit hypermobile but what I really needed was a holiday or a spa weekend! I was told by someone (I believe from the Arthritis Care helpline) that I was entitled to a 2nd opinion on the NHS. I got one and then a diagnosis. I assume you would also be entitled to a 2nd opinion in Scotland. When your GP gets back from holiday, it might be worth asking. Have you spoken to anyone from the AC helpline? They have a huge amount of knowledge.

If your bowel is inflamed, in a strange way, it might make it easier to confirm a diagnosis as inflammatory bowel disease is often associated with inflammatory arthritis. That said, of course, you can have inflammatory arthritis without inflammatory bowel disease. Unfortunately, there's a bad apple in every bunch and perhaps the rheumatologist you saw as not the best apple....if you catch my drift!! I really hope you can get a second opinion.

Keep posting here if you need the support. We are all here. x

phoebemonkey

Thanks again for the replies. Sorry I didn't reply earlier... have had a horrible two days with bowel prep yesterday (which I reacted badly to and ended up being sick 7 times) and then being admitted as a day patient today for the colonoscopy and upper GI endoscopy. I'm an anxious person in general (comes with my autism) but I was really freaking out... but thankfully they knocked me out and I don't remember a thing.

I didn't get to speak to my gastroenterology consultant (I was still asleep) but apparently there was no sign of any inflammation or anything in my bowel/stomach. Which should be good news, but is making me a bit depressed thinking I went through all that and the doctors still don't have a clue what's wrong. He did take some biopsies though, so I have to see him in a week or two for him to tell me how it all went.

I haven't been tested for gluten/lactose/casein allergies, but I don't have any problems eating foods with those things in them. (Plus if I had celiac disease it would have showed on the tests I just had). I have a pretty limited diet because I'm allergic to artificial food colourings (proper allergic, like severe abdominal pain, going pale and shaky etc, not just hyperactivity). I've never heard of anyone else with my allergy so I think I'm pretty unusual!

In regards to the joint pain... I have no redness or swelling, which seems to be their major evidence against me having RA etc. Part of the reason I've gone so long without anyone managing to tell me why I have all the pain is I think because I'm not particularly great at describing it (except in writing) because I struggle with verbal communication. Plus because my joints don't 'look' painful they just dismiss me. I also don't really show pain on my face or anything... I tend to have a blank expression a lot of the time and my face doesn't reflect what I'm feeling! I think that might be why everyone tends to presume I have less pain than I'm saying.

I'm definitely going to ask my GP for a second opinion.

I haven't tried phoning the AC helpline for advice - they might well have been helpful, but I panic about using the phone so can't phone anyone I don't know really well (ie my mum, gran and nobody else!).

Weirdly, after the hospital telling me the waiting list for physio is 10 weeks they sent me an appointment for 2 weeks time!

[Deleted User]

phoebemonkey wrote:

I haven't tried phoning the AC helpline for advice - they might well have been helpful, but I panic about using the phone so can't phone anyone I don't know really well (ie my mum, gran and nobody else!).

Hi Pheobemonkey.
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19smp59

Hi there

Just wanted to add a little information re Hypermobility Syndrome as I was diagnosed with this in my late 20's, but before my diagnosis I really did feel that doctors weren't taking me seriously. It can cause a lot of pain in joints, back etc. A Rheumatologist eventually diagnosed me, they use what is known as the Beighton score along with history of joint pain, dislocations etc. I do know that a lot of people feel that they aren't taken seriously with their joint pain when xrays and blood tests come back normal but once they get a diagnosis of Hypermobility Syndrome a lot of things from their past seem to fit into place, this certainly happened with me.

Obviously I am not a doctor and have never met you so this may not, of course, be your diagnosis but it is something you could ask your GP about. It is worth knowing if you have this diagnosis so that you can learn to look after your back and joints as early onset Osteoarthritis 'can' develop in some people due to injury to the joints (as has happened in my case).

Anyway good luck, I know what it's like when you can't get a diagnosis and you feel that you are getting nowhere.

Suzanne x

phoebemonkey

Thanks for the replies.

I'm not sure whether I would qualify for a diagnosis of hypermobility syndrome - I definitely had a lot of hypermobile joints etc when I was younger (my knees and fingers used to 'lock' straight/backwards as well), but over the years and after many injuries I'm a lot less flexible and much more prone to spraining things. I had a look at the beighton score thingy - both my knees bend backwards and I can touch one of my thumbs to my wrist so I think I'd score 3. Which is not enough for the 'major' criteria. The only other symptom I have is widespread joint/muscle/back pain.

I'll ask my GP what she thinks when she gets back. I'm going to go see her anyway to say I'm not coping very well - had a big 'meltdown' on Friday night (I couldn't stop crying, was hyperventilating, gasping for air, really distressed and clawing at my arms and legs). It's what happens when I get really overwhelmed and stressed - I just can't cope with it. It was a combination of being really upset that the tests on Thursday hadn't really shown anything abnormal (I just want to know what's wrong), being incredibly stressed from the traumatic two days of bowel prep/sickness and the actual procedure in hospital, being overwhelmingly hot (don't cope well with heat) and being in a lot of pain.

I don't see my gastroenterology consultant for an entire month. Which is really frustrating. It's bad enough having these pains for 11 years, but being unwell for over 6 months as well is really making me struggle

Keren

Hi Phoebemonkey,

The Beighton Score considers current or historic hypermobility, so if you could touch both of your thumbs down to your arm, and bend your fingers backward as a kid, you'll score six, which gives you two ticks in major criteria, which would class as a diagnosis. Besides, a diagnosis can be made on the presence two major criteria, or one major and two minor criteria, or four minor criteria.

Even if they went on your current state, you'd fit it - 1 major for arthralgia for longer than three months, 1 minor for 3 on the Beighton Score, and 1 for subluxations (the locking fingers are subluxing as far as I'm aware).

There's a good hypermobility forum you might find helpful here: http://www.hypermobility.org/forum/

Keren

maria09

Hi
I've only just seen your post you are really having a tough time
As for having the colonoscopy poor you my daughter had here's 4 weeks ago what a dreadful thing that prep is
She's really no good taking foul tasting medicine so me brave mother that I am tasted all the prep stuff oh yuck no wonder your were sick
I'm glad they say nothing was found when looking did they say they took any biopsies? They did with my daughter but she has extensive ulcerative colitis
My Rheumy says inflammatory bowel disease go hand in hand with inflammatory type arthritis as he kept asking me was there anyone in my family with IBD I kept saying no till my daughter got colitis his reply was I knew it would be somewhere in your family!
I'm so sorry you had total meltdown my daughter does suffer too and it is so scary when it happens
I just wanted to let you know you are not on your own and we are here for you
I hope today is a better day
Maria

dreamdaisy

Hello again, how are things with you? Many of us are wilting in this heat, I expect you are too. DD

phoebemonkey

Thanks for the replies.

I wrote a reply last night at 4am when I couldn't sleep (due to pain), but my iPad must have deleted it or refreshed the page by mistake

I've rechecked my joints etc and figured out I could actually score 4 on the beighton score... realised that I can still touch both my thumbs to my wrists (when my hands/wrists aren't flaring up). I saw my physio today and mentioned hypermobility while she was torturing me. She said my ligaments are definitely more lax than they should be and I'm more prone to injuries and show some of the symptoms. But she also said lots of my joints etc are really seized up and stiff/inflexible so now I'm confused!

My knees have been particularly bad recently so she was working on them... said they're so bad because the tendon in my legs is so tight it's pulling my kneecap over to the side and causing the pain.

I'm going to write down my concerns/symptoms etc and give it to my GP the next time I see her, and ask her about hypermobility syndrome. I'm not sure she'll know anything about it though.

Thanks for the link to that forum, it looks really helpful.

The colonoscopy prep was really terrible. I'm never usually sick, but apparently most of my family who've had it have reacted badly... my mum didn't tell me before so I didn't panic. Still panicked anyway!

I didn't get to speak to the gastroenterology consultant (have to wait 4 more weeks) but he told my mum everything looked normal, but that he'd taken some biopsies. The info sheet they gave me said they only take biopsies if there's something abnormal, which is a bit confusing, but I guess he's just trying everything?

There's a history of both IBD and inflammatory arthritis in my family, although on different sides. My mum's uncle has severe Crohns and my dad's sister has rheumatoid arthritis.

Because of my autism I get a lot more stressed and anxious than people without autism. Usually when I'm really stressed I tend to completely withdraw and become mute, but occasionally when I get really overwhelmed I can't cope and have a meltdown. When I was younger (and undiagnosed) my parents just thought I had really bad tantrums and got angry. They didn't understand I couldn't help it and it was due to stress, anxiety and sensory difficulties (eg I'm very hypersensitive to noise, light, touch and smell).

Thankfully it has cooled down slightly here in Glasgow, but I'm going to Cardiff at the end of the week (I'm a finalist in an art competition for young people with autism) and it's supposed to be 28/29C there! Eeek. I really hope I don't get really overwhelmed and freak out.

maria09

Hi
I do know how stressful it is to have someone in the family with IBD my poor daughter really freaks when she has a flare up as it always ends up in hospital with it she's so scared of hospitals and has panic attacks whilst she is in so I can understand what you are going through I have to stay with her whilst she's in hospital just to keep her calm
They may have taken biopsies even if everything looks normal just to make sure they are not missing anything try not to worry too much about it I understand that's easier said than done
Take care
Maria