Question your ME/CFS diagnosis any medical persons please read

My Immuno after much testing concludes I probably have a connective tissue disorder, but "which one?"

I have no outward signs of hypermobility YET when I wrote recently to a top genetic counsellor, describing my other symptoms (more inner symptoms), and other symptoms/features/problems across whole family, her opinion was that Ehlers-Danlos Syndrome was likely.

I have been to one Genetic Clinic, who noted a "contracture" at one elbow...so quite the opposite to hypermobility!
Their conclusion was to recommend testing for Marfan & Loeys-Dietz Syndrome at a cost to me of $4000. Their advice was to wait a year and testing would be cheaper.

These two differing opinions left me somewhat confused. So I did some more reading. Right now I need to spend money treating my illness (severe CFS of postviral onset ?Lyme & co-infections). When I can save up I will test for Loeys-Dietz Syndrome Type 3 (SMAD3) for about $500 US.
Another possibility is to see another Genetic Clinic for a second opinion.

 

Daughter and I were diagnosed based on symptoms and successful treatment trial. Cardio did not bother to do a specific test -- said it wasn't necessary if the treatment worked.

For me, treatment started with 750 ml electrolyte fluid at bedtime so I don't wake up so low and another 750 ml before I get up in the morning. In addition to that I still need to drink another 1.5 - 2.0 L of electrolyte fluid during the day. That was still not enough, so we added 0.2mg of fludrocortisone. All that together keeps my blood volume at a reasonable level during the day (or so says my cardio) and I feel loads better. It was estimated that my blood volume was about 20% low, which is not uncommon in ME/CFS apparently.

Daughter does fine with 0.1mg fludrocortisone and increasing her fluid intake during the day.

 

Hi Merylg,

I have no outward signs of hypermobility either. the latest thiinking seems to be that you definitely do not need to be hypermobile (HM) to hve EDS.
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Professor Grahame ( UCl London) has said it, Dr Francomano (EDS specialist from the Harvey Institute for Human Genetics Baltimore) has said it and Professor O'Callaghan (Melbourne University) has also said it.

I do not have any and also have 4 contracted joints - two little fingers and two toes - distal joint of the toes, proximal of the fingers. My cousin has a genetic condition called arthrogyroposis whick causes contractures of many of the joints and he has been bed and wheelchair bound since birth as a reult of that. Apparently there is a connection with EDS - my geneticist was very interested in that.

Professor O'Callaghan told me the disease (EDS) is like a bell curve, with extremely hypermoblie people on the far right and those less so or not at all inthe middle. The Connective tissue is affected in different ways in diff people - so I may have elastic veins causing POTS/OI but not the stretchy cartiledge that causes HM. If you look on the POTS pages you see lots of young women whose POTS is so severe tehy cannot stand up for more that a few minutes withough fainting, cannot take a sip of alcohol without fainting and cannot eat real chocolate or drink andy coffee as their tachycardia becomes so extreme. I have seen live video footage posted of one woman whos pulse instanly goes up tot 156 when she stands up. Her blood pressure drops too - forget the numbers now but very low. So they are at the extreme right of the bell curve ( often need ing IVT via ports and constant medication wo stay even funcional) and I am in the middle - my pulse goes up to 100, by BP drop by 20 mmHG but i can stay standing and walk etc. This is the OI - orthostatic intolerance - my body compensates by releasing more adrenaline to vasoconstrict and raise my BP. But i suffer payback in subequent days - from the OI/POT s and i imagine from the effects of having all the adrenaline in my system all the time..

As for genetiic testing - save your money ATM i would say - the genetic research is progressing quickly so the tests will be refined soon and consequently prices will drop.



best,
Ally

 

I am so weak and tired the next day from doing hardly anything. Can't stand for long, can't get the mail at the end of the driveway (About 30 ft). Then at night I feel better sometimes can even shop but most days in bed until 5,6,7pm. I'm too exhausted to go to the doctor and tell him what? I've given copies of the 3 TTT's that were abnormal, the most advice I got was propranolol. Which is doing little after years, no florenif, weak pulse BP when sick is about 89/59. I'm sick of this because I'm too ill to fight back and supplements don't help when you have problems swallowing and tremors. To be truthful I'm giving up and tired of spending money I don't have and never get better.

 

So sorry to hear that PNR. yes it is extremey tough for us that is for sure.


lets hope for some good research and treatment soon

Ally

 

Thanks Soc.

Do you mean oral electrolytes?

i just was sent this link to the WIKI defintion of POTS and am assured by someone knowledgeable that it is not bad.

the list of associated symptoms is interesting too.


http://en.wikipedia.org/wiki/Postural_orthostatic_tachycardia_syndrome

 

How ridiculous not to Dx you as you had too many Dx angel!
Is there a statute of limitation on diseases?

good for you for hanging in there.

I was just was sent this link to the WIKI defintion of POTS and am assured by someone knowledgeable that it is not bad.

the list of associated symptoms is interesting too.

http://en.wikipedia.org/wiki/Postural_orthostatic_tachycardia_syndrome


Ally

 

I think it can do, certainly more than ME in terms of being taken seriously, it also meant I was reffered to a neuro gastro drs about my stomach which turned out to be gastroparesis.

No I haven't removed the other diagnoses as I still believe I have them and they are seperate illnesses.
Although my depression is just reactive depression so I don't mention it to consultants.

 

I know, its crazy!! but that is the British NHS for you!!
we are all label seeking hypochondriacs!

 

I take my electrolytes mixed in the water I drink. That way I know I'm taking the right amount for my fluid intake. I use ElectroMix because I can't stand the sweetness of most other electrolyte or sports drinks. I also like that it's a good balance of electrolytes, not just potassium.

Yeah, we're both diagnosed with POTS as well, although we don't have the severe symptoms because our bodies manage to compensate to some degree according to our cardio, although the compensation is not necessarily healthy.

The POTS may be more due to the low blood volume than blood pooling (which is the better known form of POTS), although we probably have some of both.

 

I am so sorry it's so awful. It just shouldn't be this way - there should be help. I do understand the sense that there's no point fighting any more. Just know - you are not alone; with the many headed beast of a disease, or with the sense of wanting to throw in the towel. One day at a time - and, as a fellow sickie once said to me, "Remember, you only have to live through each day once.

 

Hi. I am pleased that you finally have a proper diagnosis and I agree many people are being told that they have ME when they actually have another condition or other disorders. I have a mix of POTS, PN and AN and slight EDS, too (maybe even Fibro). I think I do have a combo and that's where it gets complicated. Have you noticed how each condition is hard to diagnose? Many doctors are ignorant or shy of all these conditions and Lyme disease, too. I do hope you get the appropriate treatment. I know I would like a very knowledgeable doctor to spend half a day with me giving a thorough check and taking down every little symptom and detail and putting the pieces of the puzzle together. I dislocate knees, have over-flexing elbow joints and fingers, smooth feet and hands, a hump on the top of my spine....Eurgh!

Good luck and take care!

PS Do look at this forum: http://forums.dinet.org/index.php?/forum/1-dysautonomia-discussion/

Also look out for 'Bendy Girl' on Twitter, FB and her own blog

 

HI TCP
that is all extremely intereting thanks - I will check outyour blog.

One thing I note you say though is that you have " slight EDS" - I think that may be incorrect terminology - bit like saying someone has "slight ME" - ouch !!!


A lot of docs seem to think EDS only covers the joint mobility aspects which in fact it is complex and usually affects the whole body - albeit in differing ways. As it is a connective tissue disorder, and connective tissue is all through the body, it has potential and usually does affect you in many ways more than mere joint hypermoblitiy or a positive Gorlin's sign.

In fact 17 types of EDS have just been identified as docs start to Dx more widely.

SO the same thing that causes defects in cartiledge and tendons causing scoliosis or bendy joints can affect the major blood vessels leading to POTS /OI and the serious consequences of that too. I have heard of a doctor recenlty diagnosing someone with EDS and "cfs" ( her term) when in fact the EDS can cause the "cfs symtoms too. It also affect the capillariss causing easy bleeding and bruising and petecheiae.

A blood is a connective tissue it may be inpart responsible oft eh low blood volume often stateded as a symptom - but until now one that was not tested for very often - something I hope will be rectified now that testig is easily available....... as low blood volume is one definite positive sign or test result of a serious disorder, along with POTs/Oi readings showing postural drop in BP or tachycardia on standing,

Important info about EDS - that I would be pleased if you could share on your blog - is that every one with any kind of EDS is recommended to have a cardiac ultrasound as a matter of some urgency. And of course, EDS it is a genetic illness that people may want to rule out as a diagnosis if they have or are thinking of having children.

All the best, look forward to reading your blog,

Ally
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PS I am familiar with Dinenet and my pc may be being hypersensitive but your link there to it was flagged a dangerous wen I clicked on it.

 

I think I forgot to say too that POTS is often a symptom of EDS - and now sure where you are in Britain but Prof Rodney Grahame is an expert in EDS so he just give you that time - I know he doctor I saw here in Melbourne Australia spent a good 2 hours on my first consultation - taking a full family history as well as my lifetime medical history .....in retrospect almost every little medical detail of my life has turned out to be probably related to EDS!

So it is fascinating if terribly debilitating and tragic too.

OH ! jut realised spell check is on PR - thanks for that Admins - wonderful - now I can see and correct my dyspraxic typing.

Cheers
Ally