To wonder how do we get a diagnosis on anything ever

[Allaboutme23]

DD 18 yrs has had problems with mild pain on walking, sweating profusely since 15 yrs that it’s become part of her life. We have had an appointment to discuss whether she may have POTs syndrome as ticks many symptoms such as fast heartbeat, feeling lightheaded often particularly with bright lights or getting up suddenly and general fatigue . Asides from blood tests that come back normal she feels very quickly dismissed by gp (always different clinicians) no further action until things get bad.

Over this time she has had excruciating menstrual pain with other symptoms like a few decidual casts, and nausea. She was told this is normal or that exam stress was bringing on the bouts of lightheadedness and momentary blacking out. She had one transvaginal ultrasound but as nothing picked up, no follow up from doctors to say they could try another route.

All of this has greatly effected exams, her work life and social life. She gets a cab everywhere as doesn’t want to turn up drenched due to a 5 min walk and fatigue and pain. Shes dropped any sport she was doing due to the health matters. She does not feel believe her and I wonder how the heck do people peruse a diagnosis at all . Do they pester GP by booking the appointments? Do we need an itinerary? Do we need to go private , would they take action ? She is neurodiverse, should this be used to gain a more thorough explanation of routes to diagnosis, how does anyone get there in appropriate timescale?

This is my first time posting, so sorry if I'm of not much help. But have you looked into EDS?
It sounds like a strong possibility, it's a genetic disorder that causes many of the issues you've mentioned. I've type 3 also known as Heds, and it's linked to being neurodivrse. There many variations but type 3 isn't detected by a blood test, but instead a physical exam.

Do you have the actual blood test results? A lot of what you are describing sounds like anaemia, so I’m wondering whether she was mid or low range “normal” on any iron tests that have been done.

Common symptoms of anaemia include:

• excessive sweating, especially at night
• cold/clammy/pale
• high heart rate
• dizziness
• shortness of breath
• cold hands/feet
• fatigue
• muscle pain
• headaches

Being ND does seem to involve some pain, discomforts, strange symptoms and issues such as Pots, mcas, hypermobility and reacting differently to hormonal fluctuations. I'm ND and have had these symptoms. The sweating is a feature also. I wouldn't panic that it's serious illness, but do continue to look into things and research as much as possible before paying to go private as you don't want to waste money.

She has had low B12 in past but level out again, and sligh low iron that has again on retesting come back normal. I had low ferritin due to different cause but was never as unwell or weakened as her and not in pain.
Id forgotten to mention tingling in feet, blurred vision too, massive temperature fluctuations.

After 4 years of this I’m desperate to see her take off for Uni and get support for cure/ effective management but no idea where to start there or how much.Its like I need an itinerary and instructions on how to go about now that we have to go through slower than ever clinician triage of G.P appointments/ if you get one. If we ever get a nurse clinician she need to forget it as super fast dismissal and male just gives a very assertive this is normal (you try it then all women want to reply).

I'd go private if you can afford it.

I've pets and talking to vets (no insurance) versus talking to GPs is like night and day.

So often you can't have an intelligent conversation with a GP or even any specialist you may be lucky enough to see, because they're clock watching and operating on a quick-fix basis from a symptom perspective.

Bound/constrained by NHS prescribing rules and considerations of what constitutes normal (woefully inadequate. The NHS appears to have an acceptable suffering level which is purely based on outward appearances, so if you're the stoical type you're fucked).

Or when it's worth taking action (generally if you're holding down a job, you're "fine". If you're not working, then you're of no use anyway, so it doesn't matter if there's something else wrong with you and no point spending money figuring it out).

No interest in diagnosis (because then they'd have to follow NICE guidelines). No holistic approach to considering all symptoms or how other conditions already diagnosed might play into what's happening. No interest in how normal life (never mind chosen lifestyle) or well-being is affected. If your undiagnosed health issues makes you depressed you can have some antidepressants, they're cheap.

Whereas I can discuss my pets general health, mental well-being and athletic performance with a vet and if I say something is an issue and want it investigated, it's investigated. I can have a discussion about what investigations, likely outcome, cost and whether it's worth taking an educated guess and acting accordingly, without being treated like a nuisance for not blindly complying with the first thing offered or being offered nothing and told it's unnecessary.

When it comes to diagnosis I can discuss prognosis, treatment options, the merits or otherwise of taking a conservative wait and see approach, the pros and cons of gold standard treatment, the outcome I am (not them!) hoping for, as well as issues surrounding quality of life both for pet and myself. Coming to an agreement/decision on what we're going to do next.

The only guidelines they're bound by are the animal welfare ones. The only thing I'm constrained by is my finances and time available for nursing care.

If you've got complicated and seemingly random symptoms, you need someone you can work with, someone who's prepared to listen to you and take time to consider what you've said, someone who is there each step of the way so knows your full history. Not someone you've never met before, who doesn't know so much as your DOB and diagnoses, attempting to patch you up and send you back out there in a 10 min time slot because they're already overrunning by half hour and want to go home.

If she's had this for 3 years and it hasn't worsened then I wouldn't panic.

She has hardly been ignored. She's had tests ultrasounds blood tests. What exactly are they supposed to do if they come back normal?

It would actually be quite rare for there to be one single unifying diagnose for all of these symptoms.

There may not be one single unifying diagnosis for this constellation of symptoms.

She's had tests ultrasounds blood tests. What exactly are they supposed to do if they come back normal?

This is the attitude I'm talking about.

To answer the question - how about accepting that the patient's well-being and ability to live a normal life is being compromised. Then committing to discovering the cause of each symptom. Before discussing whether there's anything that can be tried to improve it, whether that's medical intervention, or complementary therapies, or lifestyle changes.

Ultimately attempting to get the patient to a place where the symptoms are cured or managed to an extent that they can either: live a normal life without feeling like shite regularly for reasons unknown. Or if that's not possible, come to an understanding of what causes the symptoms and that there's nothing to be done to cure/effectively manage them. So the patient can start to accept their situation and work round it, with the help of therapy if necessary (depending on the condition and the patients mental state).

The levels of what's considered "normal" in UK cause doctors in other countries to treat the conditions because those exact same levels, and their consequences on the patient, are deemed unacceptable.

Similar with tests where they're looking for something they're willing to treat and if they don't find it, or don't find it in sufficient severity to qualify for treatment, they lose interest in the existence of the symptoms or the impact on the patients life.

And the way they'll dismiss a patients lived experience of pain and instead try telling them how they're not supposed to be in any and don't need treatment for it.

I understand there's an argument for NHS not having funds to do all things etc. But there needs to be more honesty and transparency. To make out the patient is unreasonable for wanting diagnosis and help is just awful behaviour.

No it’s not normal. It sounds similar to my daughter who has Eds and dysautonomia, which is often a cormorbidity with neurodivergence particularly in girls. My daughter has all the same symptoms.

You have to pester the doctors sadly. Follow up with a typed up list of all her symptoms and duration. Give it to them in the appointment so there is a recorded list in her medical notes. Keep going back and referring to the list of symptoms. That way there is continuity between doctors. The more return visits and calls, the more they will take it seriously.

Just because the bloods ‘seemed’ normal doesn’t mean that there isn’t something going on. Can you see her blood test results? Sometimes despite being ‘in normal range’ there can still be symptoms if results are near the high or low range. Iron levels and B12 deficiencies can all have symptoms whilst appearing a ‘low normal’. B12 deficiencies are under diagnosed and common in teenage girls with your daughter’s health profile. Consider other co-occurring conditions like celiac, Crohns and IBS. All of these conditions can affect the absorption of iron and minerals into the gut and cause a myriad of symptoms similar to your description. My daughter was tested for celiac and surprisingly came back very positive. This was affecting her day to day ability to absorb iron and minerals and caused no end of seemingly disparate symptoms.

If you can get a blood pressure monitor, do that and routinely take readings, either you or her, to get an idea of fluctuations. Keep a diary. Take the bp when she wakes then after she has stood up to see the change. Take readings after she has eaten and after a bowel movement. If there are significant changes in her BP then show this to the GP. If you provide them with evidence, you give them more information for them to carry out a referral.

Get an O2 monitor for her to put on her finger get that also reads her heartbeat and monitor the changes when she feels like she has palpitations. Note this down as well as this can lead to an ECG if you present a list of observations that are concerning.

If she has a paediatrician or specialist who diagnosed her neurodiversity, ask to see them again.

Sadly the more persistent you are and the more information you provide, the better the outcomes.

As an aside, if she doesn’t already take one, consider a magnesium supplement and a really good probiotic.

They should do yet more tests. Blood tests don’t diagnose everything! They also don’t always provide answers on one draw. Sometimes comparative tests need to be done. Sometimes specific blood tests need to be done. Sometimes it isn’t a blood test that is needed but a thorough investigation into blood pressure and heart monitoring. Maybe looking into other possible causes for these symptoms such as Lyme Disease, Graves’ disease etc…

I speak as someone who spent most of my teens and twenties with health complaints and was finally diagnosed with three immune system disorders from the ages of 28 onwards. My blood tests results were always ‘ok’.

My bloods were “fine”
except they weren’t and it took a locum GP to spot it, and I was sent to hospital immediately and diagnosed with a rare blood disorder
i now get copies of my blood results to check them myself

my ultrasound was “fine” and my excruciating period pain was “normal”
but the MRI wasn’t, and the following surgery found I was absolutely covered in endometriosis

@milkandhoney2 , that’s helpful thank you. So will she need to ask for reference to Gynaecologist or push for the MRI first? Can I ask which of the bloods had he noticed that was in actual fact not normal? I’m sorry to hear of that condition for you and hope things have improved considerably.

How do you ask for that @Marzipanface ? I feel like despite being articulate and firm, Doctors and nurses have usually retorted with “it’s anxiety” when she insists that she does not have that going on at the time.

Shes always had leg pain, and now knees and ankles stiff in the morning . Vitamin D deficiency is again back to normal but I always felt there was more but what is beyond. She was referred to pediatritian around 10 years who had a few students that day observing. After a 2 min bend of her joints she said in a very firm tone I m sure was to be used as a this is how you deal with a time wasting parent display that there was nothing wrong with her. It was reiterated to her then as if well if it’s not your mum exaggerating a health problem , you need to not believe your pains not a problem for definite, off you go, don’t come back.

I often think getting the support is a skill that has to be mastered, if I learnt and sold that service to others I’d make a good profit.

Private gynae will help with the menstrual pain.

there are various things that can be prescribed - you can either go down the pill/implant route to reduce/stop periods or there are painkillers like mefenamic acid which are particularly good for period pain.

can’t comment on the rest.

i saw a private gynae when I was 20 and it was life changing.

What was her ferritin level at the last test? Because the cut off for normal is far lower here than in most countries. Mine was 13 and classed as normal - my hair was falling out and I felt like I couldn't breathe in enough oxygen! I took lots of iron supplements anyway and it's climbed higher, but it should be over 50 ideally

This.

mine hovers at 18 and I get awful symptoms. But ‘normal range’ rubbish as usual.

Yes @PinkCampervan , given her long term history with this you’d think they’d refer them if all ruled out in that area off to another. I can see how they can’t refer everyone but just knowing how to get an efficient route would be a godsend. I know the path would not be perfectly straight but at least some direction .

It always surprises me that female gps / consultants are quick to start with anxiety and then brick wall up rather than, I hear you girl and if you are anxious as a result we can treat alongside! I’m sure there can’t be many young women rocking up to exaggerate a non issue, perhaps awards to the most helpful cause finding cause could be a new scheme with incentives 😆

I would potentially see about an initial consult with a private one if you can afford it, I think for quite a lot of nd things can be dismissed as anxiety and not looked into further. I’m also nd, and ended up going private for two investigations a year or two ago, and it ended up getting diagnosed as they concentrated on the symptoms in front of them vs ooh it says anxiety in her notes type thing.

I think get some cold hard stats such as blood pressure drops, temp spikes and pulse monitoring in your arsenal. Present to the doctors and tell them you’ve spent the last four years concerned about this. Tell them your daughter has had pain in joints for the last ten years. Type it up in a document with bullet points. Hand it over and tell them you’ve had enough and you feel your daughter is being let down.

Look up the symptoms of Heds/hypermobility and see if her symptoms match. List all appropriate symptoms on the document. Make it clear this is affecting both her quality of life and yours. I find you have to literally spoon food doctors in order for them to come to the same conclusions.

Why on earth is anyone ticking yabu?

They won't do an MRI without clear or suspecting gynaecological issues, and it would likely be after a referral to gyne and then an inital appointment where they felt iw was needed. I doubt they would as it doesn't seem she meets the threshold for an MRI (just for menstrual pain, without trying different treatment options for a significant amount of time). She'd need to describe her menstrual/pelvix pain in more depth and detail (timing, severity, other symptoms) and it doesn't look to match with her symptoms you listed like the sweating etc.

Plus before another ultrasound they'd try some medication. Also a GP will and they often do help with menstrual pain (no need to go private in my opinion) - she can try the pill, the mirena coil, or Tranexamic acid if she has heavy periods or NSAIDs if she has pain (something like mefenamic acid or naproxen if ibuprofen taken properly isn't working). But as her transvaginal didn't pick anything up, they'd want to try medication first - if it's just menstrual pain it's unlikely to be endometriosis and it may just be primary dysmenorrhea (where you have heavy and painful periods with no cause) but they can treat it using the above. Adenomyosis is picked up on ultrasounds, because its about the muscular tissue so unlikely. Plus a mirena is also used to treat it so you can try it without further tests. I doubt it's what she has, though, because of her other symptoms, it could be a neurological issue or something else. It's likely to be seperate from her other symptoms though. Hope you find some answers soon.