Daughter with autoimmune probs

[Worriedmamahere]

My 21 year old daughter has been worked up for Lupus for years. Her rheum says she has something autoimmune but no definitive diagnosis yet. She's on plaquenil and prednisone right now, prednisone has helped her tremendously with her pain. Unfortunately, she can't be on that forever so her rheum is talking about starting her on Imuran or Methotrexate. Her CPK in Sept was

573, her DS DNA was indeterminate (as it has been every time she's had it checked). Now on pred, her labs were normal! Rhem wants her off pred (weaning slowly) and repeat labs after off x 3-4 weeks. If CPK again high, will start above meds. He and her neuro think she may have polymyositis. Neuro wants her to have a muscle biopsy, rheum says no because he will treat her either way. I have so many concerns but my main ones are the muscle biopsy (do we put her through this,

there could be false negative results) and these new meds (toxic, can they affect her fertility and how bad are they)? I'm a nurse but autoimmune diseases are a bit foreign to me. I've been learning a lot. Does anyone have any insight for me? Maybe I need a second opinion rheum, I don't know.😕

[Barnclown]

Hello worriedmama 👋

I'm sure you'll get some helpful replies from more experience patients than me....the DMARDs azathioprine (aka Imuran) and methotrexate (both are used in transplant cases) are meds that many here on forum know well and benefit from greatly. I mainly just want to give you a hug and let you know I'm very much feeling for you, with great respect for the help & support you're giving your dear daughter.

As a health professional, you're wide awake to the implications of your daughter's diagnostic & treatment process, including the significance of her test results. For what it's worth, my feeling is that I like her rheumatologist's attitude: over the decades I've had to undergo traumatic biopsies (inc gyn) that've turned out to have been a waste of time....eg Lab results were neg, but the conditions were present, active and the surgeon just snipped off the wrong bits... & experienced consultants, who know my conditions inside out, proceeded with diagnosis + ongoing treatment, which has been & continues to be effective.

you'll well know that steroid sparing treatment is THE THING now, especially in younger patients. Even I, in my late 50s (when my infant onset lupus was finally recovered in 2011 & daily systemic treatment begun), was put straight onto the kidney transplant immunosuppressant mycophenolate daily when over a year on the antimalarial hydroxychloroquine daily hadn't adequately globally damped down my multisystem symptomatology....and my vvvv lupus experienced head of rheumatology went for daily myco even though myco is not the type of med to take lightly and I'd already responded very positively to relatively low dose pred tapers (10mg, tapering down weekly by 2.5mg over 4 weeks). BUT, although the relatively low therapeutic daily dose of 1000mg myco IS helping me a lot, my neuro cerebral symptoms still flare, so I'm routinely allowed up to 3 of those pred tapers per year for those sort of flares

My treatment seems to be all about a highly individualised approach, involving the tailoring of a bespoke cocktail of meds at the lowest possible dosages. Yes, I am on 20mg amitriptyline daily for + various antinflammation etc topicals, which all adds up to a repeat prescriptions list as long as my arm, but it is all helping me feel better than I have since my 20s. and this is after a lifetime of conscientious lifestyle management inc antinflammation diet etc.

Mainly, my bloods results are all ok now, although complements, immunoglobulins & lymphocytes are low (by the time my lupus diagnosis was recovered, I was sero-neg anyway, with an early onset immunodeficiency active well before starting any pharmaceutical immunosuppression). I live with a great long list of diagnosed secondaries including sjogrens, raynauds, erythromelalgia etc...and, naturally, I do wonder how much less debilitated I might be now had I received the lifetime of daily systemic treatment I would most likely have got had the NHS known about my lupus diagnoses when I moved here at 21. But, of course, until relatively recently, pred was THE main treatment in autoimmune cases like mine...and I know all about the probs of daily pred from youth thanks to my husband's 30 years on it due to crohns diagnosed while he was at university)

I think your vigilance re potential gyn issues is hugely important. Good medics will be keen to consider this with you & make reproductive health a priority in your daughter's case. If a medic doesn't prioritise this in your discussions, I would seek a second opinion.

Hope something in there is useful to you

Will be following this discussion with interest

Wishing you and your daughter every ounce of possible good luck...and hoping you'll keep us posted

XO🍀🍀🍀🍀🍀🍀

[Worriedmamahere in reply to Barnclown]

Wow, you really know your stuff! Thanks for the reply!

I'm a nurse but I work with mostly healthy moms/babies and pediatric patients who require inpatient care at my local hospital.

I just want to do what is best for my daughter, she trusts me completely and will do whatever the Drs and I think is best. It would be nice to have a name for her illness (a real "diagnosis") but for now, and maybe forever, she may be just labeled as having undifferentiated connective tissue disease.

Whether it be lupus or polymyositis, I think the treatment will end up being the same and we will continue to follow her labs closely. Her neuro had her CPK drawn this week with isoenzymes, I'm curious to see these results. Our next step is continue to wean off prednisone (she won't be off completely until Dec, I'm worried about how her Christmas will be!) and repeat labs 3-4 weeks later. We don't see rheum again till Jan but he's always been available by phone. We drive about and hour away to see him.

Thanks again for the response, cross your fingers that she does ok off prednisone and we don't end up in the ER (again) with pain!

🙂

[Barnclown in reply to Worriedmamahere]

You're very welcome. Am glad if something in all that can be useful...I rambled a bit 😉 (understatement of the year).

I like the way you're looking at all this. What country are you in? Because in the UK Drs mainly prescribe prednisolone, while USA Drs tend to prescribe prednisone. There are differences. But tapering/weaning off involves similar issues.

Clearly you understand these issues. It's a case of doing the best you can. My husband finally tapered off daily prednisolone after 30 years...it took him 18months -2 years, including typical complications re adrenal function etc. But now he is fine, and very active, with his crohns in remission & pred is a thing of the past for him. your daughter is much younger, hasn't been on pred for decades etc. There are lots of people on this forum dealing with tapering/weaning off pred. Am sure you'll get great support if you post a question headlined something re pred & tapering

I do hope you'll let us know how you get on. For sure the fact you're a 'mother & daughter team' means I feel a connection....even 4 + years since my mother told us she'd kept my early lupus diagnoses secret, I'm still 'processing' my situation...how things might've gone if the NHS had known when they took me on in the '70s etc etc. I'm just so glad my mother is still alive to explain my lupus to us. There she is in the USA in her 90s, and I'm here in the uk in my 60s, discussing this stuff. It's amazing

Take care & good luck👍👋