Many of you know that I was waiting for skin biopsy results last week from my brilliant Neuro, Dr. P., followed by a visit with my GP, Dr. N who is going on maternity leave March 10. The results came back negative for SFN, as well as secondary vasculitis or amyloidosis. He was hoping it would be the smoking gun but no. The only positive from testing since October from my latest "fall" was a +EBV with increasing viral load showing a recent infection. A retest in December has all but the early markers increasing in an unusual pattern (and I didn't have mono or a recent known infection) so he wants me to go to Infectious Disease and see what they say. I asked what could cause the burning/numbness etc. in my feet and hands (stocking glove pattern but sometimes up to my knees) and he said EBV can affect the nerves, but also since my brain MRI was clear, we could pursue spinal MRI as MS lesions can sometimes cause that. This is not the first time MS has been mentioned and I know EBV can be the instigator behind MS, SLE and RA. I also know that SLE and MS have many of the same neurological symptom overlap that makes them nearly impossible to distinguish until damage is irreversible.
Dr. N agrees with the plan to see ID. She has been my doctor for over five years and has seen the worst of it. I probably had symptoms longer but discounted them. She has a great deal of empathy for me. Her own mum has RA. She won't be back full-time until September. I hope we can have this figured out and have a lovely bow tied up around it for her when she returns
So, let me lay out a few of my weird little facts out. I know some of you are deep wells of knowledge of all things autoimmune and unexplainable body phenomena...
Born 9 weeks early but not a NICU baby, childhood diseases: chicken pox @ 4y, rubella @ 7y, blood type A- (two kids, both O+), Daughter of DES, pretty healthy all my life. runner since the Reagan administration (Callaghan for those in the U.K.). Typical "flare" symptoms can include: fatigue, headache (migraine w/o aura), scleritis, oral and nasal ulcers, cognitive dysfunction (esp. word recall and slow processing), mood swings, joint pain, sensitivity to light (eyes), neuropathy, gut dysmotility, along with the stocking/glove distribution I can also have nerve pain in my face and gut that feels like a thousand fire ants under the skin (goes with the slowing of the bowels etc...TMI!) I was diagnosed with sero-RA in Aug'16 and undiagnosed in Mar'17 after 7months of MTX. I have had chronic anemia and had1000mg inofer iron infusion April 2016. It helped and held well until they took me off the MTX, but now am borderline for anemia of chronic disease (high ferritin, falling Hb) ANAneg- 2015...I've had the $million workup and every time they have a positive result and then take the next step in testing and it's negative, they explain it away. This is frustrating but I will keep fighting the dragons until I figure out which one I need to ride. Thoughts???
DRunnerchick
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DRunnerchick
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Aspects of your story are “ringing bells “ with me...so here is a bit of my story in case something in it can be useful to you
I’m a DES Daughter too: 5 months daily inutero exposure, born 1953 in philadelphia
My medics think this DES exposure + genetic predispositions (paternal hEDS (Hypermobile Ehlers Danlos Syndrome) and maternal Mast Cell Disorder (mother also hypothyroid with Lichen sclerosus) tipped me over into infant onset lupus diagnosed due to bad skin rash when i was a toddler. But family & medics didn’t tell me about the lupus. I just thought i was more sickly than my contemporaries. Also a fall from height onto head with concussion + cervical spine damage at 7 years old got blammed for various neurological issues (migraine, vertigo etc) . But despite a lot of typical lupus-type multisystem manifestations, i was a tough youngster & led an active life in between the flaring illness & emergencies
So when i moved to the UK at 21, the NHS took me on ignorant of the v early lupus diagnosis. For 40 years the NHS cared for me during emergencies while various GPs & hospital clinics diagnosed & treated secondaries telling me they were all “normal” ...no medics looked at my whole profile carefully enough to suspect underlying immune disorder, despite persistently below normal lymphocytes and various obvious visual manifestations (eg persistent urticaria rashes, weeping chilblains etc). Immunologic blood tests were never run. But in my 40s i was investigated for MS...when tests were neg, the suspicious signs & symptoms were blamed on the childhood injury’s spondylosis etc
Finally in 2011 my multisystem debilitation had progressed enough to be visually obvious, so i was referred to rheumatology for investigations re autoimmunity. A brilliant lupus expert consultant diagnosed early onset lupus based on medical history & physical examination. Her findings meant i met clinical diagnostic criteria for lupus (history of serositis/pleurisy etc etc). Then my mother confessed they'd kept the infant onset lupus diagnosis secret. Meanwhile blood lab results met immunologic diagnostic criteria for lupus (low complements & leukocytes etc) so my seronegativity was irrelevant. I went on to respond very positively as my consultant put together the cocktail of daily combined therapy prescription lupus meds that is helping me feel better now than i have since my teens (hydroxy + amitrip + pred + myco). My collection of overlapping conditions now includes secondary early onset sjogrens, small vessel vasculitis etc etc
Within a few years, bone profile blood lab results prior to osteoporosis treatment revealed bone marrow dysfunction (hypogammaglobulinaemia G,A,M, aka chronjc immunoglobulin deficiency, a type of Common Variable Immunodeficiency - of the Primary Immunodeficiency group pf illnesses). So i began to attend immunology clinic for investigations. Meanwhile historic blood test results + my history of complex persistence pattern multisystem infections established that this immunodeficiency existed before 2011 when my lupus diagnosis had been recovered and treatment with immunosuppression meds begun. Immunology continues to monitor my immunologic bloods regularly and has had me on daily antibiotics for several years now, ongoing, with all my persistent infections damped down (especially pockets of chronic bacteria -driven sespis in sinuses, stomacc & urinary tract)
Meanwhile, i remain sero neg, with relatively low inflammatory markers (CRP, ESR). Which hasn’t caused any of my medics to question my immune dysfunction & connective tissue disorder status.
I feel very lucky to have ended up with a great bunch of True Detective medics who are making sure i finally am getting really good care from the health establishment. I hope your case is more convincingly cracked soon too. This link is one of my favs re diagnosis...perhaps you know this website already ...i especially like the way it explains certain types of seronegativity:
(Here is an extract: “ANA-negative SLE – Less than 5 percent of patients with SLE are negative for ANA as detected by indirect immunofluorescence. The frequency of ANA-negative SLE is even lower in patients presenting at an early stage of their disease. In addition, SLE patients who have longstanding disease and/or have undergone treatment may lose ANA reactivity and become serologically negative over time.")
Apologies for going on at such length, but this sort of story is close to my ❤️...and something about your story makes me wonder if details in my story may be helpful to you
Take care 🍀🍀🍀🍀 coco
PS my HealthUnlocked profile gives a lot of detail re my signs, symptoms/manifestations...quite a few are similar to those in your post)
I appreciate your story here. I had followed it here and there in other places before but this really does help me understand the similarities and twists our stories have in common. It gives me ammo for the battle.
After I wrote this post I was finally contacted by Infectious Disease and they booked me for the first available appointment! I think Dr. P must have strong armed them. I merely followed directions and let him know that I hadn't heard back on the referral by the end of the week. 😆 My appointment is next Friday. Maybe they can interpret my EBV results and figure out why my immune system seems to be out of control. I will keep you posted. Thank you again for sharing your story and sources of information. You help us all so much.💐
Dee🏃🏽♀️
P.S. Just as a bonus, my youngest as a second gen daughter of DES had two sets of reproductive parts and widespread endometriosis with a hysterectomy at age 24.
you’re the first DES Daughter i’ve encountered here on forum: very few of us here in the UK. And hardly any DES awareness. But the NHS does have a DES Daughter monitoring protocol (i FINALLY discovered after 40 years of GPs telling me they’d never heard of DES...when my lupus was re-diagnosed, gynaecology immediatly took me in to monitoring!) Have i got it right: you’re in the States?
I hope you & your youngest are doing “ok”...can only have been/still be v tough...i don’t think i’ve ever really allowed myself to feel anything but emotionally “numb” about my whole DES experience (both my sisters avoided exposure & have children...my mother still refuses to even talk about my DES repro organ birth defects etc & DES-related infertility, let alone acknowledge that of course no way is she “to blame” because her gyn prescribed her DES etc etc)
Am hoping you really will let us know how you get on...even if it turns out your condition is something other than lupus-like
I actually didn't know I was a D. of DES until I had a crash C-section and the OB found that my uterus was malformed and that was the cause of my breech issues. That was my oldest daughter, who also has issues that have never been resolved. She is on the autism spectrum, has CRPS and is currently suspected to have cyclical Cushing's Disease with endocrine/gyno issues. It wasn't until I started researching my health issues that I questioned my mum and at first she denied it. You know how the rest of the story goes. I am the only girl. My brothers have no children. We were all born prematurely. I had complicated pregnancies with hyperemesis gravidarum and difficult deliveries. I'm not sure why the older generation thinks denial is better. I feel fortunate to have two children at all.
It is pretty interesting that the inventor of DES told them to never give it to people. It was a horrible drug after it was tested. They used it anyway. I did run across one study published last year that said there was a higher rate of transgender in second gen DES recipients. I haven't found any repeat research so I won't say it's factual but I found it interesting. I know there is research out of OHSU regarding how the health of the grandmother affects two generations in general and that may be true especially in DES.
At any rate, I'll keep you posted on any updates. I'm trying to get my information organized and ready for next week so I have my questions ready for my Infectious Disease consult. I always feel like a deer in the headlights.
Dee, i think you’ve had/are having an extremely tough time. I’ve met a lot of DES Daughters & Sons via online forums & in person over the years. Your story seems to me one of the toughest.
Yes, as i understand it, the brilliant Brit scientist who invented DES regretted it to the end of his days. Early on, before the DES scandal hit international headlines, he was knighted here.
Me too: always feel like a deer in the headlights...no matter how experienced, better diagnosed and informed i become. I figure this feeling begins at the outset way begore birth: it’s down to the programming we DES Babies receive as we somehow survive months of daily torture inutero. After all, DES was mistakenly prescribed to prevent miscarriage...now it is prescribed as a Morning After pill. Every day, i’m grateful for my wonderful online support group forums....they help me cope with those headlights...i hope you feel this way too
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