Lupus like condition plus suspected Hypermobilty Ehlers Danlos Syndrome. Advice please.

Now being referred to a geneticist by rheumatologist. Just looking for advice on the subject.

[Barnclown]

Hello again sophie

Just a quickie cause gotta behave cause have had first phase of spine surgery today...so am actually “out of action”

My first reaction is that a referrals to a geneticist & or an hEDS expert like the rheumy Dr Hakim in london for joint hypermobility investigations could help A LOT...so long as it’s actually a rheumy whose expertise is SLE/lupus-like conditiins &/or a geneticist who is expert in hypermobility!

Like all medical/scientific fields, there are experts who really only know about their speciality. I tend to feel it’s our right to politely ask rheumies & geneticist what their field of expertise is specifically....and if the consultant’s expertise is in some other area, why not ask them whether they have a colleague whose expertise is SLE/lupus-like conditions, hypermobility, especially the hEDS & the genetic type of EDS...etc etc

I forget what we discussed when we first met, but in case i didn’t mention this: being diagnosed with almost all autoimmune conditions can take as long as 7-10 years...in some ways this can be sort of reassuring, cause it can mean the severity of your health issues isn’t as great as it could be...eg as in my case...also it can mean you avoid having to be prescribed the sort of heavy duty meds i’m on now + risk their side effects...i remind myself of this A LOT - cause, as i think you know, my infancy lupus diagnosis was lost and the nhs took 40 years to rediagnose me in 2010. Meanwhile, in the late 1990s i was diagnosed with hEDS. And all the time i was suffering from a simultaneous Antibody Deficiency Disease so of course i tested seroneg for autoimmunity anyway. Those 40 years un the diagnostic wilderness were vvvv distressing...and i feel HUGELY for all going through this ordeal, as you are...

so: COURAGE...hang on in there...and do your best to lifestyle manage...also you can stay close to one GP who is familiar with your health issues...

Apologies: i wish i could be more help...but am sure you understand

🍀🍀🍀🍀 Coco

[misty14]

Hi Sophie

You've had a very good reply from Barnclown that I can't really add to except to ask about your Rheumy Consultation as I don't have experience of EDS or Hypermobility like she does!.

Has this Rheumy done bloods which is why he says you have a lupus like condition?. Diagnosis of lupus can be difficult if you have symptoms but the bloods don't come back positive or they maybe partly positive or a weak positive!. The problem is also there's not a single blood test for the condition. There are several markers that need looking at and then it's up to the Rheumy to make a decision based on symptoms and resukts!. Makes the process a bit fraught and immune illnesses in general need keeping an eye on as they can change over time!. Do hope the consultation with a geneticist is helpful. Keep us posted how you get on. X

[Hidden in reply to misty14]

Hi misty. Thanks for the reply. The suspected lupus was picked up on by an endocrinologist specialist (Dr Toft) and a dermatologist i saw. But nothing is showing in my bloods yet. My ana was positive at 1.160 homogeneous and anti ds dna was 8. The ENA panel was negative for other antibodies.

[misty14 in reply to Hidden]

Hi Sophie

Your blood resukts are like mine. Positive Ana and other more specific markers not enough or showing at all!. Your Rheumy should be willing to keep an eye on you as your illness could change and be prepared to keep testing you to get a more definitive diagnosis. Specially if you develop other symptoms like I have over the years!. Can I ask what symptoms you've got, skin as a Dermy was also involved?. What could happen is like I have you could be given a diagnosis of UCTD or undifferentiated connective tissue disease. This includes symptoms of lupus and other CTD's like scleroderma because our bodies can't decide which illness to be. The world of immunity is a complex one with lots of symptoms and illnesses overlapping. Very confusing so I hope I've been helpful. ?. Is your Rheumy going to see you again, did he suggest any treatment?. It's good he recognises you have a lupus like illness!. That's a big step!. Please ask me anything you want and I hope you get your health better sorted soon. X

[Hidden in reply to misty14]

Hi misty. I developed a sun allergy and raynaud's a few years ago but no other symptoms. The raynuads is chronic now. The fingers swell up and get painful and the skin cracks too. In may last year I developed severe nausea everyday and feeling so unwell. I had to force myself into work. This went on for 2 months. Most weekend were spent in bed through exhaustion too. After this I started having trouble with my breathing. A chest X Ray showed severe scoliosis so they assumed it was that. It lasted a week and thankfully hasn't happened again. Straight after I starTed having extreme discomfort I'm my chest. Again this lasted a week. I couldn't sleep because of it. It felt like something was pressing on my chest. Then it went back to the horrible sick feeling. In between was random aches and pains. Joint pain in my shoulder and back pain. Chronic fatigue now and complete lack of energy. The constant fluctuating temperatures on a daily basis which is so draining. And weekly flare ups of flu like symptoms where i spend the day in bed till i feel better. I am seeing my rheumatologist again in may but he's convinced it's nothing autoimmune related and he's referring me to a geneticist now. A bit of confusion. It was the endocrinologist I saw that is concerned I have lupus. He referred me to dermatology. I was there last week. So will see what the report from that says. Other than she said it's definitely autoimmune related. So conflicting opionions 🙄 X

[misty14 in reply to Hidden]

Oh Sophie

We have quite a few similar symptoms!. Raynauds usually starts first and then other symptoms like you describe can come later . I developed it when I was five and then my immune symptoms started when I was 14 so quite a lot of years in between which can happen. Raynauds can be treated well too by Rheumy's. You really do sound as if you have an immune illness like lupus because of the flare ups and better times you describe. Also problems with sun is classic for lupus. I also get chest pain and been treated with anti inflammatories for it . You must get this checked out if you get it again and or if you suddenly get worsening pain. Mine starts with discomfort that you describe. It might be indigestion related as your also getting nausea. A chat with your GP might be good as you can be prescribed stomach protectors like omeprazole. It does need investigating as there can be different causes!. Hope you have a good GP?. I really do feel this Rheumy has made a mistake in dismissing you to a geneticist and should be achknowleding your illness possibilities better. Will be interesting to see what the clinic letter for Dermy says. If not heloful i really think you should seek another Rheumy opinion as they do vary!. It's finding one with an open mind and more willing to treat symptoms. It's difficult but can be done!. An email to Paul Howard at lupus uk asking for specialist recommendations in your area would be good. He keeps a good list and hopefully you live near a lupus centre of excellence to be able to go to. I really do think it's what you need. Take careX

[Hidden in reply to misty14]

Aw thank you so much for the reassurance. You do sometimes feel you're going crazy and my first gp insisted it was all anxiety. Which I know myself it's not. I think my rheumatologist has dismissed it too early aswell and I know it can take time to develop in bloods etc too. My gp has have me cyclizine for the nausea and nefedipine for the raynuads but also referred by my rheumatologist for infusions for it too. Yes I agree that I will be referred to a geneticist and that might be a waste of time. I hope the dermatology report is helpul. It's lie a merry-go-round, going from Dr to dr and never really getting anywhere 😔 Personally I think the sun allergy was the start of something and then all.this developed a few years later. X

[misty14 in reply to Hidden]

Hi Sophie

The trouble is when doctors don't know about something they can take the easy way out and blame it all on anxiety etc and we the patients just know when they're wrong but it's hard to know what to do sometimes. You've come to the right place as we've all got a lot of experience of this on forum!. The fact that your Ana is positive means there's something going on with your immune system and therefore it should be monitored!. I'm taking nifedipine for Raynauds and find it helpful. Hope your getting supplies of it ok!. Would the infusions be Iloprost for Raynauds?. I've had them too and again they work well. You are so right that it's easy to just go from one doctor to another getting nowhere and sometimes health worsening!. Awful it is until you find the right physician and then the relief is huge!. Hopefully the Dermy report will be good as they're very capable of diagnosing lupus. They might suggest another Rheumy and refer you. Hopefully you will get it soon. Trust your instincts and you won't go far wrong. Keep us posted and I'm glad the reassurances have helped. X

[Hidden in reply to misty14]

Hi thanks again for your kind words and reassurance. I get frustrated at times going back and forth. Yes it's Illoprost. My rheumatologist said for 3 days. Was that what you had? Fingers crossed for the dermatologist report. I have learned now not to get my hopes up for any progress. I have been told my positive ana is due to my high thyroid antibodies but there must be something else going on surely? X

[misty14 in reply to Hidden]

Hi Sophie

No problem, just glad I've helped. I had Iloprost for five days but that was years ago now!. If you want to know anything else about it just ask. You must have gotten very angry and frustrated trying to get answers!. How long has this been going on for?. I don't know if what you were told about high thyroid antibodies is true regards your positive Ana but what I do know is if you have another immune illness like thyroid problem or EDS then your more likely to develop others. All the more reason for a Rheumy to be willing to do a watch and wait on you!. It makes me angry learning of cases like yours, how they're not moving with the times!. Fingers crossed for the Dermy report. Not surprising you daren't get your hopes up for progress!. It wears you down but I'm sure you will get somewhere soon. It can sadly take time for a lot of us on here but you'll make it. X

[Hidden in reply to misty14]

Morning Misty 😊 It's encouraging to hear other people's stories who have been through the same situations. I don't have an appointment for Illoprost yet. It's 8 hours for the first one. Is that right? Can't say i'm looking forward to staying in hospital that long. Up until may i was perfectly fine. Have never felt unwell or gad pain of any kind. Everything just seemed to have happened all of a sudden. I'm not am expert but i think maybe the sun allergy triggered something. My rheumatologist doesn't acknowledge this either. It was my gp that had said it was a sun allergy. It annoys me that he pushed that aside too. As that's also common in Lupus. Along with raynaud's X

[misty14 in reply to Hidden]

Afternoon Sophie

That sounds about right for the Iloprost. It will be worth it as it will improve your skin problems on your hands too. Hope you get an appt soon. It's wonderful on this forum to read or talk to others who are going thru same things!. It helps make us feel less alone and abnormal. Doctors who dismiss us really affect our self esteem. I do agree with you re your sun problems before becoming unwell.it can trigger lupus this way as it makes it flare and you can feel very poorly!. It's doubly hard on you that prior to May you've been fine with no problems and suddenly it's all changed!. These immune illnesses need a trigger like the sun or stress or an infection for them to suddenly start!. That's what happened to me. Hope you have as good a weekend as you can.Not easy watching for the post!. I'm doing that too!. Xx

[Hidden in reply to misty14]

Hi misty. I wait for the post everyday 😂 I just recieved the report from my last rheumatology visit. He states again that he's sure there's no autoimmune disease or lupus. And he's now saying the night sweats and temperature regulation is due to medication i am on for bladder problems. Even though I told him it was happening long before I started on any medication. X

[misty14 in reply to Hidden]

Morning Sophie

I just don't know how that Rheumy can say he's sure no lupus or auto- immune illness going on with your symptoms , pattern of illness and positive Ana. . You certainly need another Rheumy opinion if Dermy isn't helpful!.

Can I ask what medication your on for your bladder and what are your symptoms as I've had bladder problems too?.X

[Hidden in reply to misty14]

Morning Misty. Yes I agree. He did run more bloods last week. Checked my complement levels and anti ds dna again. But i fear they will be normal. The medication is called tolterodine. I developed a very overactive bladder. Can't really travel that far without needing the toilet. Do you have similar issues?

[misty14 in reply to Hidden]

Hi Sophie

I hope that bladder medication does work as it's awful for you to be so restricted in travelling!. I should think it's stress caused by the medical profession or it can be inflammation as well. I did have problems but they settled with an anti histamine tablet. I have similar restrictions because of another bowel condition I've developed, Ulcerstive colitis!. I'm glad that Rhdumy did do more bloods to see if there are changes. I did also have complement changes indicative of an immune illness so fingers crossed you do too and you'll be able to stay with him. We all have to fight for a long time sometimes before a lupus diagnosis but we do get there as I'm sure you will too. Xx

[Hidden in reply to misty14]

Hi it has helped slightly but it's still a problem when going out anywhere. I always hope for some changes in blood results so we shall see. I got my appointments through today for the iloprost. It's for 3 consecutive days. It doesn't specify how long each treatment will be though. I'm just a bit annoyed at my rheumatologist blaming symptoms on medication. As I had told him it was long before I was on any medication.

[misty14 in reply to Hidden]

Hi Sophie

Glad you've got your Iloprost appt thru. Maybe you could ring them and ask how long each session is for. Does it say if your staying in hospital or having it as a day case!. I had mine as a day case?. It would really help if your bloods did show changes . I didn't realise you'd got another Rheumy appt in May. That could be crucial as he can talk about your resukts and you may have new symptoms you want to discuss with him that you may have developed Between now and then. It seems to me he's giving you mixed messages because he is following you up in May. Fingers tightly crossed your Dermy report is helpful. Are these two Consuktants in same hospital?. Maybe they could work together to help you. Don't lose heart I think you made more progress than you thought you did. Xx

[Hidden in reply to misty14]

Hi misty. Yeah it's just in the day unit. Thankfully as i didn't fancy staying in for 3 nights. I will ring them next week and ask. Well my follow up appointment was in may anyway. I had seen him last week by my Dr's request as my hands were getting worse and not really responding well to the nefedipine. Which consultants? The Dermatologist and rheumatologist? They are at 2 different hospitals. X

[misty14 in reply to Hidden]

Hi Sophie

Good luck for phoning about the Iloprost . Glad it's in the day unit like I was!. Shame that your Dermy and Rheumy are in different hospitals as it makes it harder for them to work together if needed . It was just a thought I had and here are two more. I and a lot of people on this forum have found it helpful for the Consultant if you keep a diary of symptoms.Specially highlight newly developed ones. Doctors like patterns and numbers of days suffering etc. It makes a good case that they can't ignore very well!. It should also show the way your health has flared and how it makes you feel and then the better times which is what lupus does!. You could do this from now till your May appt and could make such a difference!.

The other thing is if you become very poorly before May's appt you could ask the clinic to be considered for a cancellation or if they could bring it forward!. Interesting your GP got you seen sooner because of your hands. He could do the same for you again!. Sounds like GP no 2 is a better support for you and willing to be proactive!. Just the kind of GP you need.

At least we've had a break from the post today. Fingers crossed for you for this week. Xx

[Hidden in reply to misty14]

Hi misty. I did keep a diary of symptoms that i took to appointments but it was never looked at so i stopped. I will start again though between now and may. I don't think there's much point seeing him before then to be honest as he's sure it's nothing autoimmune and I need to wait on the geneticist appointment now. Can i ask what your symptoms and blood markers were when diagnosed with UCTD? If you remember. My rheumy ran am ENA panel but it doesn't specify the tests or resukts for individuals ones.

[misty14 in reply to Hidden]

Morning Sophie

We're back to watching the post , I'm having to chase my Gastro appt !. When did you see your Dermy?. It usually takes 7-10 days for a clinic letter to be sent out!.

When I was diagnosed with UCTD I had low white cell count and low lymphocytes. These are common in immune problems. Also positive ANA but I don't know the pattern and low complement . C3 and C4 which is found in lupus . The more specific antibody tests were negative and they still are!.

Symptoms were, rash across cheeks and bridge of nose, hair loss, mouth ulcers, Raynauds, joint pain and stiffness, fatigue. Night sweats. Sensitivity to sun. Quite classic lupus ones really and over the years my health has added new ones and new conditions too.!.

I'm glad your going to still do your symptom diary. Any photos of skin rashes too are good. It's a shame it wasn't looked at. You've worked so hard to make this right and got all the right ideas. that I'm sure you'll get there.

I only meant if you were suddenly really poirly to bring your Rheumy appt forward. It's rather good to show that you couldn't wait for your scheduled appt and why!. Helps to concentrate minds!. I still don't get how this Rheumy can say he thinks there's nothing auto- immune going on. !. Hope this reply is helpful Best of luck for this week. Xx

[Hidden in reply to misty14]

Good morning misty. Yes back to waiting for the post again. Sorry you've been so poorly and suffered all those symptoms. I hope your appointment comes through soon 😊 I have mild lymphopenia but not sure if that's significant to anything. I know and i am still considering getting a second opinion depending on the dermy report. I saw her on the 7th of February X

[misty14 in reply to Hidden]

Thank you Sophie for your lovely message. Low lymphocytes taken with symptoms and positive ANA should be telling the Rheumy that he must keep an eye on your condition because these results do indicate there's something going on with your immune system.!. You should get the Dermy report any day now so if you don't it needs chasing too!.

I'm going to have to chase my Gastro appt. it hasn't come . I've wasted ten days following the secretary's instructions!. It's so annoying isn't it?.

I love your cat pic, have you got one of your own?. Are you also trying despite illness to work or do studying?. Really tough if you are. Xx

[Hidden in reply to misty14]

You're very welcome 😊 No i don't have a cat. Don't know how that pic came up. I have a little dog though. called Sophie. I really hope you can chase your appointment up. I know how frustrating the waiting can be. I was working up until July but i have been off work since then. I kind of live day to day just now, never knowing how i will feel each day. I do try to get out when i feel ok though. How about you, are you working or were you off unwell too? I suppose it's just piecing all the little bits of information together. X

[misty14 in reply to Hidden]

Good afternoon Sophie, has the Dermy report come?. I've been trying to chase my appt and just can't get thru to outpatients. So busy and it's so wearing and annoying!. Will have to try Secretary again this afternoon.

It's lovely you have a dog called Sophie and you can take him for walks when you feel up to it!. These illnesses can be very isolating as we can't work!. You must miss it greatly. I've never been well enough to work since I left school but when my health allows I've done voluntary work and loved it. Important to feel more normal!. I've got a voluntary job now which is 2 hours on a Thursday fortnightly!. Ido look forward to seeing my colleagues.

Reason I asked was if your a young sufferer there is a Young Lupus Group run by lupus uk that might be helpful for you meeting others who understand!. It helps greatly. You could see lupus Uk's website for info or email Paul Howard . Just a thought!. Take Care Xx

[Hidden in reply to misty14]

Good afternoon misty 😊 No it hasn't come yet. Hoping it will by the end of the week. That's a shame you haven't had yours yet. Fingers crossed you can chase it up. I am still technically employed at the moment. I have a meeting with my work on Thursday and not looking forward to it. I think they will dismiss me soon though. Which is sad as i loved my job. That's sad you haven't been able to work due to your health but also good that you can do volunteer work 😊 Thanks for the information. I will look into the support group. Did you claim pip? I just missed out on the daily living by 2 points. So have sent the mandatory reconsideration letter. Waiting to hear back. So fingers crossed X

[misty14 in reply to Hidden]

Good evening Sophie, sorry your still watching the post. It's awful!. I got thru to Gadtro outpatients and was able to have an appt on 15/4. Feel disappointed it's a long time so asked to go on cancellation list!. I practice what I preach and will do the same for my Rheumy appt tomorrow. Gadtro one is three months late!. I don't know about you but I find it's hard wanting the appt then when it's here you realise half the year has gone!.

You've got a big day on Thursday re work. They can't dismiss you on health grounds as that's discrimination. Does your work have an HR dept or union rep to represent you?. If your not happy with outcome you can get in touch with citizens advice who have employment advisors. Tel no is 03444 111 444. They have a good website too with helpful info and links to other sources of help too. citizensadvice.org.uk

They will also help with your pip appeal if it comes to one. Hopefully you'll get it thru the reconsideration. I'm sorry your having to do this and missed it by two points!. It's so cruel. I'm still on the old DLA shows how far behind they are!. I dread reapplying for pip so will use citizens advice myself. They helped me get DLA. Do let me know how thursdsy goes. Fingers tightly crossed that it goes well for you!. Xx

[Hidden in reply to misty14]

Morning Misty. I am glad you got an appointment through but sorry it's quite a while away. Fingers crossed it goes well for you. I am not looking forward to tomorrow. I think they will send me back to.occupational health first. And if I they can't give a date when I will be fit for work then it will be a dismissal on griunds of incapability. It might be the best for me. As less stress and worry as I need to phone them each week for an update. Even though nothing changes week to week. If I get refused pip again then will go to CAB for help with the tribunal. Good luck when you have to change over. Sure you will be fine though 😊 X

[misty14 in reply to Hidden]

Good luck Sophie for tomorrow. It's a big thing your doing but like you say might get rid of a lot of stress. Phoning each week is hard with no progress. They might send you to O. H to see if there's anything they can do to help you back to work. They have to try and accommodate you!. Could you perhaps do less hours?. You must miss it so much. Hopefully you won't need cab for the tribunal but they will help with it greatly as they know what to say!.

I've managed to get my Rheumy Appt for 19/3 a month early which I'm really pleased about . Makes up for yesterday as really not well at the moment!.

I'll be thinking of you tomorrow. Let me know how it went. Good luck. Xx

[Hidden in reply to misty14]

Hi misty. So pleased you got the appointment earlier. I got a letter today about the geneticist. To call and make an appointment. No idea how long the wait is for that. Less hours wouldn't work. Things flare up. So I never know how I will feel each day. I couldn't work just now. Plus my job is very physically demanding which also I cannot do anymore. I do miss is but less stress to concentrate on getting myself better. I will let you know 😊 X

[KayHimm in reply to Hidden]

I agree with Misty that they are going to have to watch you for symptoms and that the dermatologist’s evaluation could be helpful. My take, from reading your posts, is that there is not enough indication at this time to diagnose an autoimmune disease. But note the doctor still repeated tests, so he was not totally convinced. He needs laboratory evidence and clinical evidence. If he saw hair loss, ulcers or if you had had inflammation in your lungs, heart or kidneys in the past, that paints a picture. As Misty said, it can be a long process. You may not feel mild but thus far, you have not shown major organ involvement, and that is good. A good GP is important— one who is watching you over time — to monitor you. So hard to not know what is going on. Try to be patient. Unfortunately, these diseases can be more like complicated puzzles that take time to piece together.

[Hidden in reply to KayHimm]

Hi kay. Thank you for the reply. I agree. No organ involvement is good but i still feel he is dismissing any kind of autoimmune disease far too soon. You are right though. It is like piecing together a puzzle and I know now it will be a long process. Especially for things to show in bloods etc X

[KayHimm in reply to Hidden]

What makes you think he is missing something? Could he just be saying that he does not see enough evidence at this time? I would be surprised if any rheumatologist would diagnose an autoimmune disease without seeing evidence of inflammation or auto-antibodies. That could change. As both Misty and I have said, the dermatologist’s assessment is important. If the dermatologist determines your rash is autoimmune related that would be significant.

[Hidden in reply to KayHimm]

Possibly yes but I took it as he doesn't think any symptoms I had are autoimmune related. I am still under is care though. My next appointment with him is in may. I am hoping the dermatology report will be helpful. And if there are any changes with the recent bloods he took X

[KayHimm in reply to Hidden]

I looked back at your posts. A few things sound like me. I remember early on — before I started to run low-grade fevers — feeling like my body temperature was off. I was cold when others weren’t and could not tolerate the heat. That was many years ago. I developed autonomic dysfunction and have wondered if that was starting back then. You also have Raynaud’s, which is considered, I think, a type of autonomic dysfunction. Dysautonomia is only recently been understood as associated with autoimmune disease. I also had thyroiditis. I noticed you have thyroid antibodies. You might want to mention the body temperature issues and possibility of autonomic dysfunction. Could be a long shot but I definitely had that symptom. Do you get light-headed after standing? Any GI issues? They are clearly watching you or the rheumatologist would not have scheduled another appointment. I would not say he has ruled out autoimmune disease at this point.

[Hidden in reply to KayHimm]

Hi Kay. Generally when I feel unwell or especially warm my temperature is always normal. I've mentioned my temperature issues to my gp numerous times but she doesn't know what's causing it. No problems with feeling lightheaded. The only other thing was just last summer when all this started. Any time I was out in the sun I used to get lightheaded and felt dizzy. Which is odd as previously always loved the sun and would always be out in it. X

[KayHimm in reply to Hidden]

I had that too! I got light-headed, nauseated and what they called sicca symptoms got worse. I got sick far more times than I got a rash. It is awful when you feel your body sort of going crazy. I think they are going to get to the bottom of this, but I really feel for you.

[Hidden in reply to KayHimm]

Aww thank you for your kind words. I still get a rash when out in the sun too. I had always loved the sun up until then and always found it strange how I suddenly developed a sun allergy. I am dreading the summer already and I can barely cope with the heat just now and it's still winter so summer is going to be awful 😔 X

[KayHimm in reply to Hidden]

We can give you tips. I have lived like sun-free for a long, long time. It is a loss, though. Keep us posted about how you are doing. Not an easy process.

[Hidden in reply to KayHimm]

Thank you. I would appreciate that. Rewind to last summer and I was permanently frozen. Needing to use a hot water bottle. So not sure how i've gone the complete opposite 🙄 It's easier wrapping up when cold. Not as east trying to keep cool X