Fibromyalgia, POTS, Ehlers-Danlos syndrome diagnosis today

[JacobReesMogadishu]

DD saw a rheumatologist today after multiple symptoms which have been ongoing for years. Consultant said she definitely has Fibro and EDS and probably POTS.

She's getting referred for a tilt table test to confirm POTS, cardiology to make sure her heart isn't affected and also a neurology referral as he's concerned she may have "brain disease". This last one is due to the memory loss and brain fog she has. But reading about fibromyaliga then this causes brain fog.

DD is 19yo and had to go in by herself so I'm only going on what she's told me. She's currently sobbing. Says she was told to stop/reduce dancing and yoga which she loves.

It looks like there's no treatment for any of this. Take pain killers, accept that you'll be knackered and in pain and try not to do so much? Is she likely to get worse?

Oh poor thing :(

Pilates is extremely good for EDS but would have to be someone who knows about her diagnosis.

Has she been checked for vitamin d levels?

She's been low on Vit d previously. Think last time they were checked they were better. She is supposed to take tablets/spray every day for Vit d.

A friend has recommend a good physio who specialises in hypermobility and does a pilates class.

my dd probably has EDS and I think also has mild POTS. My husband also has tonnes of EDS symptoms. DD has been told by the specialist physios that she should avoid doing stretchy exercises, and based on DH's experiences, I think that's right. He loved astanga yoga in his 20s, but he stretched too far, and has ongoing pain that possibly is a result of that. DD has been told to do as much strength stuff (pilates, swimming) as she can but to be really cautious about stretching. It's not easy...

Urghhh I get so bloody frustrated with ignorant doctors in this field, & in general.

Myself, DD, DB, DM & various cousins all went through this too. Yes we do have hEDS, POTs & more, but it got worse due to B12 deficiency caused by an inability to process the vitamin into its useable form. They are linked

In my case it too 16 friggin years for them to treat the deficiency that they'd ignored after DDs birth which turned out to have been made worse due to nitrous oxide in labour. If they'd treat it at the time I wouldn't now have trashed discs in 2 areas of my spine. This affected DD too to a degree, though hers became more obvious when she hit early puberty.

Despite knowing we have the hereditary form of Pernicious Anaemia in my family, it still took years if fighting to get the simple cheap vitamin B12 injections that we needed. So much ignorance amongst doctors over it, it didn't believe it until I started fighting for my daughters treatment, the ignorance is gobsmacking at times. My DD spent 2 years in a wheelchair as a result & that was a good day, she was mostly bedbound, yet those 6 loading dose injections of B12, had her up & walking in under 2 weeks & she hasn't looked back. Her joints are far more stable, she's had no significant injuries since & that was after years of back to back injuries.

They cannot rule it out until they trial a loading dose of B12 injections, don't let them fob you off out of ignorance

The information you need is all in this link & the support group it links to were an absolute godsend to us & they saved my DDs life..

www.b12deficiency.info/misdiagnosis/

Oh & vitamin D, I notice she was low.

The prescription Vit D is synthetic, so nothing like as effective as natural D3 taken with vitamin K2 & magnesium. I was on it fir years, switching saved me from extensive abdominal surgery & made a huge difference to bone pain, leg pain etc. We also have a genetic mutation that means we need more D to be symptom free. We are lucky that our GP is an expert in D & she agreed & confirmed keeping our levels at top end of range & a bit above was better for us & it definitely is. She also confirmed tge prescription stuff is nowhere near as good as natural D3, but is all she can prescribe

I'd also suggest looking at thiamine deficiency & B6, they are common with it too too & supplementing with good quality supplements really does help. Thiamine fixed what I was told was arthritis in my hand. It comes back if I forgot my thiamine fir a few days

Oops, sorry, missed Fibro & M.E. I was diagnosed with both after my daughters birth. POTs a few years later. She was diagnosed with fibromyalgia & CRPS at 12, but already had an hEDS diagnosis that got worse as she aged. ALL MUCH improved with B12 injections

Is the neurology appointment possibly for Chiari Malformation? If so - please ensure the specialist she sees is an expert in that particular condition and don’t allow her to be fobbed off with a cursory “It’s an incidental finding”....

@SingingInTheShithouse they've tested her b12 befrore and said they were ok. Do I still push for trial injections?

SingingInTheShithouse they've tested her b12 befrore and said they were ok. Do I still push for trial injections?

YES!!!!!!

& ask for a print out of her results as it's a bit of a postcode lottery as to how easily you'll get it. Some areas have a B12 top of range lower than nice guidelines. I think the worst culprits for this are in the north west, where it can be as low as 150, when NICE say automatic treatment at 200. NICE also say the tests are unreliable up to 50% of the time, so go by symptoms, not blood test results & anything low normal should trigger further testing. Unfortunately doctors knowing this is rare as they get very little training in vitamins etc.

My daughters B12 was 412, so in theory okay, but those injections, in our originally reluctant GPS words, "literally performed a miracle" My daughters diagnosis is " functional B12 Deficiency" because her bloods were in range

I have a screenshot from the NHS B12 page & a symptom tick box sheet that might help, give me a moment to find them

Here you go...

Do read the link or join the group though. To get the best out of B12 injections you need to take other supplements alongside them as B12 uses Folate, Iron, other b vits in general & potassium to make health blood cells to repair the damage deficiency causes, without taking these too, you can end up with other deficiencies with similar symptoms or feel ill after injections...

Thanks for that, she scores 21 from that list.

Sounds like she'd definitely benefit then.

I hope your doctors are good & listen. Good luck

Well I wish dd would listen. She won't entertain the idea. Says she has a brain disease not a vitamin deficiency and I'm minimising her illness apparently. So bloody frustrating.

My DD has POTs , CFS but not EDS , but I'm sure she has fibromyalgia . I'm not sure about exercise with EDS, but definitely for her POTS it's much better controlled if she is exercising regularly . My advice would be to find a good specialist as local as possible, that for us means 60 miles . They are worth their weight in gold. We went private for the first consultation then she was out into the NHS waiting list and had all her tests ..she now sees him once a year.
She has brain fog and that is part of it all. It's hard and she has ups and downs ..but concentrate on getting all the tests done. My Dd has gastric flare ups too. Look at the POTS UK website, they are a great resource.
She has to have regular Vit d supplements and often ferritin .

Ps she is hyper mobile but not to a great extent . Can Eds worsen with exercise ?

@JacobReesMogadishu

I'm so sorry that she's seeing it that way. It can be so hard as it does affect their brains & that makes it harder to get them to see the sense of it. I had similar with mine in the beginning too. She did come round in the end. What worked with mine was using its medical name Pernicious Anaemia & showing her the dictionary meaning of pernicious. I also showed her a video that first helped me see it was a likely cause of our problems, it's also a bit scary as some of the patients in it are extremely disabled by it, but it shows different people affected in different ways. I'll try & dig it up for you.

That alongside pointing her in the right direction to do her own research (the link above is good for that) & explaining that it can be an autoimmune disease or a genetic fault, & she is not wrong, it definitely does affect her brain. You get brain fog, insomnia, lose time, anxiety, but you're not anxious, your body just over reacts to minor stresses as if they are huge, depression, memory lapses, autistic like symptoms, muddling words & you feel like you are thinking through treacle & more. I was like a lot of this at my worst, my daughter had it all, seizures & more. My first few B12 injections felt like someone switched the light on my brain. My daughter was like a zombie who suddenly woke up alive.

So she really isn't wrong that her brain is affected, it definitely is, but it her bodies inability to process vitamin B12, that is causing brain damage & more, but if caught early, a lot of it is reversible. It won't cure hEDS, but it can help it a lot, same with POTs, CFS & more, it does amazing stuff for the brain though.

@JacobReesMogadishu

This is the video...

I think in short, the key with my DD was showing her that it isn't just a vitamin deficiency. She knows how ill she feels, you do truly feel awful with pernicious anaemia & it feel like you are slowly dying, even if not badly disabled by it. It is serious, but it's easily fixed. My daughter went from mostly bed bound, missing 2 years of school & us all writing off GCSEs etc, to up on her feet, managing almost full time school, catching up easily & creaming her GCSEs.

I hope all of that makes sense

Get her started on really good pilates class with equipment if possible. Yoga is awful for EDS. I'm banned. My joints are very loose indeed and dislocated fully all the time. I have done pklayes for years. I startedxeitb network and moved on to reformers and other equipment. A reformer is great because you can use it quickly and work your cardio system a bit but as your lying down and transitions are slow the pots is looked after. Thete?ate other exercises on equipment for all the joints where you ate supported do it's safe. If you are an EDS sufferer its vital to ensure you built your muscles yo support your body, without doing that you end up in permanent pain and disability. When we injure something it takes a long time to heal so we need uo make sure everuthj g else is invraslly good condition as it withers away quickly. Pilates is the way forward, butcwit a hood teacher. Thete areza lot of bad ones out there. Dye should only be taught in small groups of maybe 3 or 4 max and I tecomjenxxshe maybe checks if the teacher us registered with the pilates foundation. If you support your body well you can definitely go on and dance again, you just need to know how yo look after yourself and know you need yo take a lot of extra measures over and above other people . It's about finding a lifestyle that enables your body to fo some of the amazing things it can do which other peoples cant. Not everyone can bend like a rubber band...we can but need yo make sure we look after ourselves properly if we want to keep on doing it. Eat different, exercise diffetent, fo everything different because we are different. Most of the best dancers in the world have EDS. The treat themselves very differently to the average person, it's about knowing how to manage yourself to get what you want.

I second and third Pilates with the equipment.

Hypermobile people have poor proprioception and the equipment gives a lot of sensory feedback as well as more strength building, plus holds in correct positions etc.

I don't know much about brain stuff other than what they've researched around pain and pain perception, but this is very much a biomechanical issue and her quality of life will be much better if she takes control of posture and strength etc. Learns cbt approaches to pacing and pain management.

Vitamins can help, I'd probably get tests first though. There is a test for pernicious aneamia.

I'd also be very aware of her period cycle as progesterone is weakening and oestrogen can be strengthening, relaxin is released around her period. Keeping on top of cycles and adjusting any issues with diet or supplements might help a lot.

The FitrWoman app is free and really good; it was developed with Chelsea football team. It helps you track periods and when you're more likely to injure yourself, plus lots of dietary advice. I'm not an athlete at all but I've found it helpful to manage my hypermobile joint issues and when I can go jogging without being in agog my for a week.

I believe keeping Vit d and ferritin levels up are very helpful, and b12 helps a lot with nerves.

I think Eds can cause gastric absorption issues.

A lot of supplements can be taken sublingually (absorbed into your cheek or under tongue.)

Thanks everyone. Had a big chat about Vit b12 injections and she’s agreed to them. So we’ll try and convince the GP. If not an ex colleague now runs a business doing them so we’ll have to pay privately. I’ve ordered a spray in the meantime.

@SingingInTheShithouse so would you say take B12 anyway even if levels normal just as a general supplement if you have POTS ( sorry if being dim )

@JacobReesMogadishu, unfortunately not. It’s a complicated vitamin fit the body to process into the active B12 that the body can use & the basic NHS blood test measures ALL B12 in the blood, both active & inactive. If she can’t process it from food properly, she can’t process it from oral supplements either, but they will put up her inactive B12 levels & skew blood test results. It needs to be injections & take high dose folate, iron, high strength complete B vitamin & eat more potassium foods with the injections to get the best out of them & stop them causing flu like symptoms & acne.

Great news that she’s open to it now though. 🤞 it helps as much as it did for us

Sorry, that First bit was for was for @girlofthenorth