EDS, MCAS, and the NHS

[LdnEDS]

I'm sure this is a story others with EDS and/or MCAS will understand. Why is our treatment so bad, when doctors have access to the same information that we have. NHS still has hEDS in musculoskeletal box, instead of major illness, despite the issue being raised in Parliament (most recently 22nd May 2024). Why is Professor Rodney Graeme's quote that "no other disease in the history of modern medicine has been neglected in such a way as Ehlers-Danlos syndrome" still relevant 10 years later?

Why do doctors mistake "controversial" means of diagnosing MCAS with "MCAS is a controversial diagnosis"? It isn't.

NHS is fantastic if you fit neatly into a box. Unfortunately neither hypermobile Ehlers Danlos Syndrome, nor MCAS fit into any one box. So we continue to suffer unless we can afford £350-£600 for a Private Specialist. And that's just for 1 appointment. It costs NHS far more to keep sending us to lots of different departments, with 0 benefit, than it would to send us to see the Private Specialists.

If I do see a doctor, most of the appointment is wasted explaining that hEDS is multisystemic, not just joint hypermobility. If that were the case it would be called "Joint hypermobility" not "hypermobile Ehlers Danlos Syndrome".

[Bertwills]

I’m trying to find help through private medicine at the moment. I think I may have MCAS alongside hypothyroidism & other problems. It’s all very disorganised & im not getting anywhere fast.

Have you seen a consultant about MCAS? I can’t find anybody in the West Midlands , Shropshire etc.

[LdnEDS in reply to Bertwills]

Depends on your symptoms. If you have GI issues a Neurogastroenterologist would be a good start. I only know of one, in London. Qasim Aziz at Barts. He does Private work and is one of main ppl for EDS. If it's predominantly Allergy/immunology there are Private Allergy/immunology specialists around. You'd have to check whether they understand MCAS. NHS guidelines are restrictive, if you ever get to see someone on NHS.Not sure if Endocrinologist could treat mcas as well as hyperthyroidism. Probably have to ask.

Whilst MCAS was predicted in 1991 first actual diagnosis wasn't until 2007. I already had known symptoms when I was seen by a very good Dermatolagist in 1998. But there was no 'official' diagnosis until 10 years later. In my case it was 23 years after seeing dermatologist that pieces of puzzle fitted together. But there's also a lot of overlap with hEDS symptoms. Unfortunately tryptase levels aren't always elevated and NHS doesn't have facilities to ensure that tests can be done within 4-6 hours of mast cell activation. Mediators released by Mast Cells are heat sensitive so chances of diagnosis through NHS is rare. Because it is "new" doctors tend to be sceptical. But it's not a new condition. It's only newly identified. So many get told MCAS is a controversial diagnosis. It isn't. Sometimes the way it is diagnosed is controversial.

GPs are taught that if you hear hoofbeats and neighing behind you it's a horse. That's why ppl with EDS are called Zebras. Same hoofbeats and neighing but clearly not a horse. So we get sent to every specialist, misdiagnosed, disbelieved. Took 35 years to diagnose hEDS, at age 50, for something I'd had since birth. I'm sure you can imagine the comments in my medical records. Psychological? Lazy? Even Munchausens??? When I found out I was livid. Those things stay on MRs even after positive diagnosis made. Since those days I have had the primary conditions diagnosed as well as over 50 comorbidities (associated conditions).

Simplest way to check if you may have MCAS is dermatographism. You can Google how to check. Idiopathic MCAS is where diagnosis is made through physical tests, and history of anaphylaxis, without the notoriously difficult tryptase elevation tests. Seeing an Allergy/Immunology specialists privately is probably your best option.

Alternatively, if you have a history of Allergy, especially urticaria, ask GP to prescribe fexofenadine and Montelukast. They have mast cell stabilising properties, so may help get diagnosis if it stops some of the problems. For diagnosis of MCAS it would require at least 2 organs affected (e.g Skin and GI tract).

Hope this helps. GL.

[Bertwills in reply to LdnEDS]

Thank you , so much information. I’ll read carefully & come back if I have more questions if that’s ok. It’s a very confusing area of medicine & im struggling a bit to make progress even privately.

Best wishes

[Swissgirl]

 LdnEDS   Bertwills Hello to both. I have MCAS and Hashimotos (autoimmune thyroid disease) along with a long list of other diagnoses. My sister has hEDS. I was diagnosed with MCAS in Switzerland via clinical symptoms and testing for mediators. However, I've done quite a bit of research on MCAS via various forums. I can recommend joining the FB group UK Mastocytosis Support Group (also for patients with MCAS) facebook.com/groups/ukmasto. There are some very knowledgeable and helpful people in the group. In addition, I have read some very good things about Dr. Tina Peers (UK), who works with patients with MCAS (or suspected). She is also a Patron for the Sussex EDS community group, from what I've just seen on her website. drtinapeers.com/mcas.

My sister with hEDS was involved in the comms for this news report from Scotland: news.stv.tv/scotland/ehlers...

[LdnEDS in reply to Swissgirl]

Hi. Were you tested as part of Universal Healthcare or through private medical insurance? What was your experience of how it was done? I ask because NHS is wonderful here unless you don't fit neatly into a "box" which makes getting diagnoses so difficult. Many people wait decades for a diagnosis of hEDS, whilst MCAS is often impossible to get diagnosed except privately. Even after diagnosis treatment for hEDS is haphazard at best. Leaving sufferers (and doctors) extremely frustrated. MCAS is often disbelieved or dismissed as "controversial" whilst medication that is known to help MCAS, hEDS, and many other related and unrelated conditions is unavailable. I want to try Low Dose Naltrexone, but am facing a struggle to get GPs to agree, despite lots of evidence in US that it often helps both hEDS and MCAS. Whether it will work for me or not remains to be seen. So if I want to try it I would have to get it privately. From what I understand, a diagnosis of hEDS and/or MCAS means I could bypass a private appointment but still have to pay to get a prescription as well as for the prescription itself, despite being exempt. So many GPs think hEDS and being Hypermobile are the same. If that were the case why bother adding Ehlers-Danlos Syndrome? GPs used to treat Patients. Now they use specific guidelines that allow no deviation, so patients like us find seeing a GP is more like a confrontation that any actual help. Despite our plight being debated in Parliament 22/05/2024 NHS still have hEDS as only musculoskeletal, so it isn't treated as a major condition. So 58 separate diagnoses that I have had over the years (some of them considered Major Conditions) that are very obviously part of hEDS are treated separately. It's ridiculous. It would help if I didn't have to wait 2 weeks for a GP appointment that usually gets cancelled because 111 send ambulance or send me to Urgent Treatment Centre.

I believe continuity of care is really important but so much time is wasted going over same old issues with a different doctor/specialist every time. I gave up seeing GP unless it was urgent, only to find last appointment GP was running late so barely acknowledged what I said, so now I don't have a clue what, if anything, is being done. Apart from a referral to Gastroenterologist that has wait time of over a year, during which time I will be in and out of hospital or treated by paramedics on a regular basis. Is this a good use of NHS Resources?

How have you and your sister found treatment like on NHS, as it appears to vary by location?

[Swissgirl]

Hi. Thanks for your message, my apologies it's taken a few days to get back to you. I was tested for MCAS via private health insurance which is obligatory for everyone to have here in Switzerland. Some of the tests where covered by the insurance, others that were sent to private labs in Switzerland and Germany I had to pay for myself. There are very few doctors here in Switzerland that diagnose this condition and I was extremely fortunate that one of them works at the clinic I was already attending. However, not all doctors here do all these tests. Some only base their diagnoses on raised Tryptase and the clinical symptoms, and as you probably know, only about 20% of patients with MCAS have raised tryptase. I have been taking LDN for ca. 3 years now and it has been a game changer for me as it really helps to keep the pain more under control. You can get a private prescription from e.g. Roseway labs for LDN: ldnresearchtrust.org/LDN_Pr.... It sounds like the healthcare system in the UK is really going to pot and has been for a number of years. I am very sorry to hear that it is so challenging. I don't know from personal experience how my treatment fro MCAS would be on the NHS but I know my sister had to go to a private consultant in Newcastle for her hEDS diagnosis.

[LdnEDS in reply to Swissgirl]

Thanks for your reply. Trying to get GP to switch Fentanyl (which has no effect whatsoever because of gene mutation) for LDN. You'd think they'd be pleased lol.Looking at ordering from LDN trust approved company online prescription.

[stiff19]

I think all of nhs is boxing and worst presumptuous boxing lacking tests. for years ive been told fibro and ununifying because they dont have a clue or test. I am sicker since going and cant get seen and have undiagnosed ptosis with a list of suspected things and no answers and even complaining they still do not want to address, nw daughter has big signs of problems after years of fight, only 17 and hyper mobile and possibly heds but not all tests done, possible optic neuritis, neuromyelitis but no available neuro ophthalmologist been waiting two years and recent ultrasound on knees hands wrists showing fluid blood, thickened tendons and bone problems add to that a multitude of symptoms as me im told multi systemic with no treatment or diagnosis. we fight on but nhs locally appalling, and just cannot afford private, we have little quality of life . nhs waste money and so much more could and should be done.

[Fe3P]

I totally understand and feel for you, currently experiencing similar. I feel as though people with the conditions should become the specialist. It's like trying to explain to a monkey that there are apes in the world but people still call them monkeys.