How to Get a Definitive Diagnosis: Hi, I'm... - Pain Concern

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How to Get a Definitive Diagnosis

JayneGP
JayneGP
25 Replies

Hi,

I'm Jayne and I'm asking this for my 32 year old daughter, Laura. Briefly, at 6/7 years old, she began to have pain in and behind her knee joints, aching, which the doctor gave her Movelat for. Age 10/11 she started with pain in her hips and spine, enough to have to take Co-Proxamol for and by 14 she was taking Tramadol and Naproxen. She has seen many specalists over the years and had a diagnosis of shortened hamstrings, growing pains, generalised anxiety disorder (she has always been a worrier and started with migraine age 20), wear and tear being the latest but the b**** of a rheumatologist more or less told her it was all in her head, to "get a hobby" (she's my carer, I have similar problems, as does my eldest daughter and my Dad did too), then discharged her. Her blood tests have shown raised inflammatory levels, th elast but one rheumatologist gave her Amitryptiline at night, but they don't seem to do anything. Right through her life, she has caught everything going, after being in a room full of people for instance, she will be ill for a few days afterwards or feel totally wiped out after a few hours out of the house.

So, she's 32 in 2 weeks time and has a list of health problems as long as my arm, ranging from allergies and intolerances (from 6 months old) to joint pain and inflamation, eczema to heart palpitations (that's a new one) when she's sat doing nothing. She has an appointment booked with our GP 11th January and we're going to insist that she sees a decent specialist. Everything points to an autoimmune disease, but nobody seems to want to label whatever it is. Anyone any ideas on how to go about it please? She's had x-rays, blood tests etc (no MRI as yet), but we know from experience that bloods don't always show what's needed.

25 Replies
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Morespoonsplease

I’m sorry you are struggling to get an diagnosis. When I read your post I had to think about Ehlers Danlos Syndrome. Have you ever looked into that? If not, please have a look online and see if you recognise your family in the symptoms. It’s an inherented disorder and many doctors don’t know enough about it.

I hope you get the diagnosis you need to get the right treatment. x

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JayneGP

Thank you for your reply. My eldest daughter has a form of EDS (I should have mentioned it!) and hypermobility syndrome, her professor asked to see both of us to test for genetic connections, but our GP surgery at the time refused, saying we had to go through the system of Musculoskeletal Triage etc. It's a never ending battle with the NHS, wish we could afford to go privately!

Thank you again x

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Morespoonsplease

If there is EDS in your family I would ask your Gp to refer you to an EDS specialist (if there is one in your area)

I had my diagnosis on the NHS so it’s not impossible but it’s not always easy to find the right specialist and sometimes you have to travel quite far (depending where you are in the country)

ehlers-danlos.org will be able to tell you where specialists are.

The allergy issues your daughter has could possibly be Mast Cell Activation Disorder and heart palpitations might be POTS (both conditions are linked to EDS)

Don’t give up..... just keep going until you get the right help. On facebook there are also a lot of EDS groups and they will be able to give you lots of helpful advice

Best wishes for 2019

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johnsmith

You are chasing the medical profession whose only answer is to give pain killers ect. It is probably time to look at the complementary. Judging by the issue that she has been on various meditations it may be possible that she is suffering the long term side effects of meditation.

Stopping the meditation suddenly is dangerous. The meditations must be taken off slowly. It is not easy to determine from your post if there is long term meditation involved I am making a guess which may be right or may be wrong.

Google "Thomas Myers". He has lots of interesting things to say. Google "Alexander Technique". THese are dealing with things which unfortunately rheumatologists on the whole know nothing about.

There is probably no cure for whatever your daughter has. There is however many things available in the complementary medical field which can improve your daughters quality of life. Your daughter needs to develop the skills to investigate herself and notice what helps her condition and what makes her condition worse. Meditation and mindfulness of the Buddhist variety are good tools for doing this. There is a free download book on the subject. "Meditation_A_Way_of_Awakening_-_Ajahn_Sucitto.pdf"

amaravati.org/dhamma-books/...

Hope I have been helpful.

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JayneGP
JayneGP
in reply to johnsmith

Do you mean medication? Thank you for your reply, but she has already cut back on Tramadol and Naproxen, taking only 100 mg per day of Tramadol and only Naproxen when she needs it. Her pain is worse now than it was on 400 mg per day, along with rashes, swelling and other symptoms, our last GP suggested that the Tramadol was causing the problems too; they were there before she started taking it, so how can that be?

I gather you aren't medically qualified?

Using relaxation techniques won't stop the pain or swelling nor will it help the palpitations, but thanks for mentioning that there probably isn't a cure!

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johnsmith
johnsmith
in reply to JayneGP

Thanks for the reply. You are right I am not medically qualified. However I have a lot of experience with the complementary therapies that have worked in a variety of circumstances.

Due to issues with chronic pain I have had to do my own investigations into a variety of subjects to do with health.

You say: "Using relaxation techniques won't stop the pain or swelling nor will it help the palpitations, " You are right if you have obtained the relaxations techniques from a book. Learning relaxation techniques together with with hands on work from a skilled complementary therapist is a very different situation. Most people need help by hand guidance to relax the things that need to relax. You cannot get this from books.

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BlanketTime1

i'm sorry you are going through this. her story mirrors mine, though my problems haven't lasted as long and aren't as seemingly ambiguous as they obviously fall under 'neurological.' I highly recommend you get away from any doctor who just looks at her or runs a couple of tests and then announces it's all in her head. i'm sure you know that, but it bears repeating. it's infuriating how easily they fall back on that (especially to women patients). I nearly gave up on diagnosis a few years ago, but seeing my mother so sad and worried made me keep fighting. I found out I have dystonia since then. I've not solved my illness puzzle, but i'm on my way. good luck to you and stay strong.

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JayneGP

Thank you for replying. It's awful seeing her in so much pain, with so called experts telling her there isn't anything wrong. We complained about the rheumatologist who said it was all in her head and the hospital took it very seriously, as did our GP. We have finally found a GP willing to listen, who will do everything she can to get answers and she sees her again next week.There's obviously something wrong for her to start having problems at 6/7 years old, we just need to get a sympathetic and knowledgeable specialist now.

I'm glad you have at least one diagnosis, good luck!

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BlanketTime1

I had a lesion show up on my spinal chord, just like the doctors initially found something off with your daughter's legs... that should be enough to tell them to keep looking. a clinical sign is proof it's not in our heads! i'm glad the hospital cared when you spoke up about the lazy rheumatologist. good luck with the new doctor.

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JayneGP

That's what the neurosurgeon I saw thought was going on with my spine initially (I went numb all below the waist) but it was bulging discs trapping nerves. Laura hasn't had a diagnosis for her legs as yet, other than at about 12 she was told her hamstring was shortened. The hospital were mortified that the so call specialist had spoken to her as she had, I hope she got a good ticking off!

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BlanketTime1

same :-)

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cyberbarn

It must be so hard having to fight like this for her and watching her life be so badly effected by the pain and other problems.

I would second More Spoons Please and suggest Ehlers-Danlos. There is a saying that the EDS experts use, 'if you can't connect the issues, think connective tissues.'

The Royal College of GPs (RCGP) has developed a toolkit specifically for GPs to be able to diagnose EDS. Read through it and become familiar with it, maybe even print the page that has the tick boxes for the symptoms, and take the link to the appointment with the GP. If you have found a GP that really wants to help, then they will be able to do the diagnoses of EDS themselves.

rcgp.org.uk/clinical-and-re...

I don't know why they are doing this, but some doctors don't want to give a formal diagnoses because they seem to think that it will somehow make a patient disabled. But getting a formal diagnoses is the corner stone to being signposted to the right treatment.

Good luck and let us know how it goes.

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Mary-intussuception

About your last paragraph - I sometimes wonder if doctors don't give a diagnosis out of more interest to 'protect' the 'public purse' than the well-being of the patient.

It's as if they fear that the diagnosis will be used in claiming disability benefits. (And why not if justified! ?)

One excuse I've heard recently (for not communicating Scan findings) was - "I didn't want to alarm you" !!! There were two findings - one the Consultant doing the scan mentioned but said it was benign - the other I only found out about after getting copies of my records.

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JayneGP

Yes, Mary, I think you're right! Our last GP surgery just fobbed her off time and time again; she once listed all the problems she had, only to be told ' I can only see to one problem at a time' Being the type of people not to question people in authority, we just accepted that and trusted that she would read it after we had gone and raise a red flag... she didn't!

I once had to prompt a pain specialist for the MRI results of my brain, head and cervical spine, just as he was about to dismiss me; "Oh...yes... there is significant degeneration, some nerve irritation, changes at C5 and 6....but nothing to worry about and no sign of MS or a stroke" Gee, thanks for leaving that as an afterthought! They're all money led aren't they? Oh...and that scan was an urgent one after I presented at my GP with lack of feeling in my face and all down my left side; it took 12 weeks to get the urgent scan and a further 12 weeks to get the results!

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Mary-intussuception

I could write a book - several !

Sure you could too.

Keep pestering GPs - and if you haven't yet - get copies of your records too. Lots of reading for you !

It shouldn't be such an uphill struggle to get appropriate medical care but it is. We have to battle on. Rest when it gets too much - then go back into battle. At least with your past records you will be fully armed with all info.

God Bless x

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JayneGP

Oh yes, I definitely could, and not just about me and my girls. My Mum was misdiagnosed as having panic attacks in 1996, she actually had heart failure; my Dad was told in 2000 he had IBS, porphyria and vitamin B12 deficiency, in 2009, he was told he had pancreatic cancer!

Thank you, I'm getting cracking today on the medical notes!

Take care x

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JayneGP
JayneGP
in reply to cyberbarn

Thank you cyberbarn, you're right, it is awful seeing her in so much pain and thinking that nobody believes her.

I wondered about EDS with my eldest having it, so I will print off the link, thank you.

The "specialist" who said it was all in her head, read the blood test results and kept saying "That's borderline" or "That's black so that's good" but not telling her which test or what borderline meant.

I will let you all know when she has been for her GP appointment.

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cyberbarn

Just to add, if you (or anyone else) has some time to read a book that explains in more depth why women have a particular problem in getting diagnosed, this book is definitely worth a read:

Doing Harm, by Maya Dusenbery

harpercollins.com/978006247...

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JayneGP
JayneGP
in reply to cyberbarn

Brilliant! Thank you again, I'll take a look at that too.

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Don_in_midlands

Hello

I’m sorry to hear that your daughter is going through all of this, especially without much help from the medical ‘specialists’!

I also thought of EDS whilst reading your post. There are a few different types - I have EDS 3 - the hypermobility type, along with fibromyalgia and hypothyroidism. So it might be that your daughter has been ‘collecting’ auto immune diseases! With the onset of heart palpitations, if your daughter hasn’t already been tested, I would ask your GP for blood tests to check her thyroid gland. I began with fibromyalgia, but later developed the hypothyroidism, so things can add on later in life.

I am now 42 and on quite a few meds. However, in my journey to this point, I have tried acupuncture, lignocaine infusions (via my local pain clinic), massage, reiki and quite a few more things that I just can’t remember at the mo. I am about to start Graded Exercise Therapy, via my local chronic fatigue clinic, so hopefully that will help. Unfortunately, the only thing that I have found to help my pain is medication & even then, I am still in pain - it just drops it down a notch or two.

However your daughter deals with her pain is her choice. She shouldn’t be ‘shamed’ for using medication, if that is the only thing that helps. Perhaps adding something like gabapentin or pregabalin might help her nerve pain? But that is for the GP to decide, of course!

I hope that your daughter finds something to relieve some of her pain soon.

Best wishes

Donna x

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JayneGP

Hello Donna and thank you! Your EDS is the type my eldest has, I have fibromyalgia along with severe degenerative disc disease and osteoarthritis, all of them started when I was young and I'm 59 now.

The last lot of bloods the GP did, included thyroid and that was fine, but I'm going to suggest she gets her records as cyberbarn has suggested, see what the bleeps have said about her.

Thank you again for all your suggestions x

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karools16

Ask your GP to test for PMR. Auo-immune disease...Polymyalgia Rheumatica. Affects joints, inflammation. You could also ask for a referral to a Neurologist. In 13 years of GCA...Giant cell arteritis, I never saw a Rheumy, only a Neuro, who, fortunately, had experience and knowledge of my condition.I do hope you and your daughter find answers soon. All the very best.

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JayneGP
JayneGP
in reply to karools16

Thank you karools16, I'll make a note of that and take it with us when we go in a fortnights time... seeing the correct specialist makes all the difference doesn't it? My eldest saw all kinds of them and it wasn't until she was 27 and pregnant with my now 9 year old grandson, that she was referred to a professor specialising in autoimmune disease. He took one look at her and told her exactly what was wrong, marvellous, 20 years of pain and suffering sorted in a 10-minute appointment.

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Hi Jayne

Has Laura ever applied for copies of her medical records? If not then I think that's the next step to take. You may discover information that's never been revealed to you. At least you will then have all the results of tests to research. You could also phone helplines for explanations of terminology and come back on here with questions/results for comment.

Anyone in the UK can apply for copies of their medical records free of charge since new regulations in May 2018.

You can ask the GP practice also (and any organisation for personal records) - free if charge now.

Find out the name of the person and department at the hospital that deals with the requests and send an email or letter requesting copies of ALL records -including investigations reports and images, blood tests reports and all notes.

It may be Medical Records Department or Legal Services you need to write to. You no longer have to fill in a form either. They have to respond to a written request, no longer have 40 days to reply.

Do you know how high the inflammation marker was? Was it a CRP (C-Reactive Protein ) test or ESR (Erythrocyte Sedimentation Rate) ?

What treatment was given for this?

How high is it now?

I would suggest an up to date CRP test at least. Could she phone GP and ask for that to be done before the appointment on 11th?

Rheumatologist should have tested some Antibodies.

Is there an Immunologist you could ask for a referal to? A Neurologist at the hospital with a good reputation?

She could also ask her GP for a Vitamin D test, then any deficiency should be addressed with prescribed supplement. Other nutrients levels she could ask to be tested : B12, Folate and Ferritin.

Just some things to consider.

Hope she gets a diagnosis soon and the right treatment for her conditions.

I think she should have been under a Specialist since childhood. Giving such high levels of pain medications to one so young without proper investigations is quite shocking.

I hate that term "wear and tear". It should be banned from use by the Medical profession.

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JayneGP

Hi Mary,

Thank you SO much for all your suggestions, she is going to apply for her notes, in fact it was something she talked about only last week. I didn't know you could ask for your hospital notes too, so I'll get onto that. You ask each individual hospital I assume?

When she saw the Musculoskeletal Triage last summer, her marker was 10x higher than a normal reading and that's what made her refer her to the rheumatologist and it was ESR I believe. No treatment was given...yep, I know! The rheumatologist did the Antibodies test (ANA) but never said what the result was or if she did, it was one of the "only borderline". I can't remember what other tests she did, but there were plenty!

Laura was diagnosed with Vitamin D deficiency in 2010, but subsequent tests have shown that the supplements were no longer needed. She does take them when she begins to feel more tired than usual or her pain is worse, we buy over the counter Vitamin D capsules then.

When we first registered with the surgery we're with now, the GP she saw for her review of medications was concerned about the Tramadol. When she explained why she was on it he was shocked to find that she had never been referred to an allergy specialist, given that she suffered with anaphylaxis from 4 months! He made the rheumatology appointment priority, but nothing else has been mentioned since. I will make sure that we mention everything at this next appointment. I always go with her because she gets tongue tied when she has to explain things; that was one of the things the bleep of a rheumatologist said, that it was strange that a 31-year-old woman had her mother speak for her! I was fuming.

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