So a bit of backstory. I am DX'd with Lupus (beginning stages but on Meds etc). I have had crazy reactions to CT Scan iodine which isnt that uncommon, however, when I do, it directly hits my feet (after shoulders and arms which goes away fast) and then I get the skin literally peeling off my feet. Its very painful. So the allergist ran tests. All negative. I then had an allergy card given to me that says to use pre-medication before scans. Well I had another scan with loads of pre-med, and still got the reaction (even worse!), so then I went back for MORE tests. The skin test was negative again with the other iodione/contrast too. But they took 8 vials of blood for more testing. The doctor said they have never seen anything like this and assume it may be Lupus turning into Lupus vasculitis but she doesnt know. SO, here is the weird part. I get a letter in the mail yesterday saying I am now scheduled to see a Genetics Specialist end of the month. Wait, WHAT?! So my curiosity is, what would they be sending me to a Genetics department for now? What would a contrast reaction / Lupus have to do with this? I have no family here (I live overseas from them), so I know it has nothing to do with hereditary stuff. Do you reckon they found some type of disease in the blood? They took loads and then I get this kind of mail. I am certain it wont have to do with my Lupus either. Or maybe they found something that isnt Lupus at all affecting all of this? Anyhow anyone here ever been to a Genetics Counselor over any kind of disease stuff? Or why would they be having me see one now?
Thanks in advance for any insight!
Written by
GottaAsk
To view profiles and participate in discussions please or .
hello GottaAsk. After reading this post re the genetic testing you’re about to undergo, i went back & read your 2 previous posts. I don’t know much of genetic testing during the diagnostic process related to autoimmune conditions, but i do know a bit relating to immunodeficiency disorder illnesses & connective tissue disorders like Ehlers Danlos (EDS)/marfan etc conditions
I see you have close family diagnosed with lupus, so that + the complexity of your case & manifestations may make your doctors suspect something genetic in your mix. So it’s impressive that the health system wherever you live is actually running genetic tests, because, in my experience, the NHS avoids genetic testing if at all possible - cynically, i suspect this avoidance is to save cash. Are you in the UK?
However your negative iodine reaction + GI tract involvement make me wonder if you could possibly have a genetic form of EDS/marfan etc in your mix because these sort of issues can be caused by some of those types of conditions, which can involve Mast Cell Activation Disorders (MCAD) of some kind. I too have suspected MCAD + have bad reactions to iodine in food stuffs (eg shellfish) & contrast mediums. And i have chronic progressive mouth to exit GI tract conditions involving inflammatory process with some aspects somewhat similar to Crohns, + also small vessel vasculitis + CREST-like manifestations including severe raynauds…& also am diagnosed with Sjogrens. Sural Axonal Peripheral + small vessel Neuropathies
So the reasons i’m replying with all these comments are that i am 69 & in long term care with my lead clinics being immunology, rheumatology, Dermatology & gastroenterology (& am also with a few other clinics long term eg Cornea team) and diagnosed with hypermobile EDS simultaneous with infant onset lupus (which the NHS thinks started as the rare + sometimes genetic cutaneous form ‘Chilblain Lupus Erythematosus’ which has segued into systemic lupus over the years), and i also have childhood onset immunodeficiency disease (probably began with hypogammaglobulinaemia , & segued into panhypogammaglobulinaemia over the years) & some forms of this too can have genetic causes, which my consultants suspect are probably underlying my complexity, but so far no genetic tests have been ordered, although my consultants have always taken my close family’s medical histories into account while considering my case, especially those that imply some sort of EDS/marfan
To me, you come across as the sort of person who can cope relatively better with the diagnostic & treatment process when you roughly understand the whys & wherefores of the tests & trials your doctors are putting you through - I’m this sort of person, and finding HealthUnlocked + this wonderful Lupus UK online community has been helping me a lot with all of this for well over 10 years, alongside the Scleroderma & Raynauds UK community here + the Ehlers Danlos Support UK & Immunodeficiency UK organisations . So, i’m glad you’re here & i’m wishing you the best of luck as you work with your doctors to achieve convincing diagnosis + effective treatments. For sure, getting me this thoroughly & convincingly figured out took years, but the combined therapeutic treatments i finally have been prescribed long term are helping a lot, so it’s all been worth the effort…even the bad reactions & unpleasant investigations.
i hope my reply makes some sort of sense…& i hope something in it can be useful
I also hope you’ll keep us posted re how things go for you - my feeling is that there is nothing ‘easy’ about the investigations you’re undergoing…& i’m very much relating to your concern & questions, + feel sure many here are too 💞💞💞💞 Coco
Hello! This is a great great GREAT response. All of this makes sense too. It seems our parallels are similar too. I am in Switzerland and luckily they are really interested in figuring things out and researching and with a great social health care system here. They have me at a university hospital for the allergist, immunologist and now, the Genetics person. Everything you said though rings close to home and I am curious too if this is the path they are going then to see if there is overlapping to the Lupus. The one curious thing I have when I see the symptoms of Mass Cell which i have actually heard a lot about. So, now im very curious if this is why and what theyre thinking. I will keep you updated on here when I find out. I am fresh into my Lupus DX now. About 1 month. So this is all very new to me!
GOOD! Am so glad that’s useful to you😅, cause I do go on…& on…which can understandably be hard on some folk🤦🏼♀️
👍The Swiss health system tends to be great: one of my aunts married a Swiss + my family-in law have lived in the Bernese Oberland for decades, so I have some experience of how things go in Switzerland….so am happy for you..I’m mainly in care at a big U.K. Univ hospital tertiary care centre here, mostly feeling v lucky😉
Looking forward to following your ‘diagnostic’ journey❣️🤝✌️
😯 Beautiful Bern…so many happy memories…my family lived in Worb & then in Bern too…we live here deep in rural Suffolk, part of East Anglia…not too far from Cambridge where I see my lead clinicians
Content on HealthUnlocked does not replace the relationship between you and doctors or other healthcare professionals nor the advice you receive from them.
Never delay seeking advice or dialling emergency services because of something that you have read on HealthUnlocked.
and yes thank you you’re always a help! 
Genetics, those with children...
Quick question on children and genetics. 
Why are my bloods not playing ball?
Failure of Drs and specialists in recognising and treating lupus and other health conditions. 
Researchers find a genetic cause of lupus
