Hi, my name is laylabelle! hEDS specialist

laylabelle

I could really do with some advice, I have been recently diagnosed with hEDS, after years of back and forth to the doctors, physios, specialists and rheumatologists and was only diagnosed because I went to the doctors with the official diagnostic criteria all filled in which was then checked over by my GP and a specialist and confirmed.

So unsurprisingly, my GP, as good as she is, has very little knowledge on the condition.

I suffer with dysautonomia, MCAS, GI issues, migraines, subluxations, extreme sensory sensitivities, fatigue amongst other things but I am trying to manage all of this while I wait on multiple waiting lists for appointment with specialists.
For context, I also, somewhat unrelated or potentially related to hEDS, have anorexia nervosa (recovering weight restored, although still often told I am very slight and have lost some weight recently), anxiety and a waiting for an assessment for autism spectrum disorder.

I would really appreciate any advice on how or if I can get a doctor with better knowledge on this condition as I am feeling like I am actually going to my GP to educate them and therefore nothing is actually getting done.

I have been having really elevated liver enzymes lately, they are supposed to be under 41, mine are 187. All the blood tests that they do to try and find the cause are normal. Except my iron was low (6 µmol/L) as well as low transferrin saturation (8.2%). And I have not had a period since I came off my pill due to my migraines back in March and was found to have low oestrogen, despite being put on the pill ten years ago with extremely heavy, painful and irregular periods. Also, my liver ultrasound showed zero damage to my liver so now my GP is stumped and as I said has little understanding of hEDS so wanted to check here if anyone had any ideas on what could be causing my liver, iron, oestrogen and menstruation issues?

Could my liver enzymes be raised due to a combination of my MCAS, GI issues and low oestrogen?
Could my low oestrogen and lack of menstruation be down to impacts from my anorexia and low body fat percentage?
Any thoughts/advice would be appreciated.

Rachel_Scope

Hi @laylabelle and welcome to the community. It sounds like you're dealing with a lot right now. Unfortunately, we can't provide medical advice as we are not qualified.

I've found this organisation https://www.ehlers-danlos.org/ who may be able to help you find a specialist. It must be incredibly frustrating knowing your GP knows little about your condition.

chiarieds

Hi @laylabelle - & welcome to the community from me also. Unfortunately many people find that it takes a long time to get diagnosed correctly with hEDS which was also my own experience. Myself, children & grandchildren all have hEDS which I found through my own research, then got this diagnosis initially confirmed in myself & son. My youngest grandchild just recently got her hEDS confirmed, tho she's the most hypermobile of us all.

The EDS Support group that Rachel has linked to above are trying to raise the profile of hEDS/HSD patients: https://www.ehlers-danlos.org/enough/

Understandably for those with the more severe types of EDS such as the vascular type, or those with the rarer types, then they do have specialists willing to see them. Altho hEDS is the commonest type, as you will know, they don't as yet know what gene(s) cause this which often leads to years of not being believed & a delay in getting a diagnosis.

I'm a long retired physio, which helped when researching my family's medical history & I have continued to read about hEDS on & off over the past 25 years. My son & I were fortunate to get hEDS confirmed by a geneticist & dermatologist who specialised in heritable connective tissue disorders who is now retired. As mentioned there's a specialist centre (in Sheffied) for those with the rarer type of EDS but they won't take referrals for hEDS.

From the medical papers, etc. I wouldn't think anorexia nervosa & EDS are linked (being underweight can cause difficulty menstruating), tho a link between EDS & autism spectrum disorder (ASD) has been mentioned. Just my personal thoughts here, & as ASD is also found in the general population, I find it unsurprising it's also found in those with EDS.

3 resources I'd mention worth looking into. Please see the GP's toolkit on the EDS Support group's website, & watch any videos by Dr Anne Maitland on MCAS/MCAD (I don't know anyone who knows more about this than her tho she's in the USA where I freely admit I get the most up to date info from) & the American Syringomyelia & Chiari Alliance Project where Dr Maitland also gives informative videos :

https://gptoolkit.ehlers-danlos.org/

https://www.youtube.com/watch?v=eVh_nuKY-Po

https://www.youtube.com/watch?v=QEmNDyzJa-g

I don't know enough about liver enzymes other than some can be affected by both prescribed & over the counter meds, & altho those with EDS seem more prone to MCAD it might be that both a genetic & enviromental issue(s) could potentially be involved.