1. < Autoimmune Diseases

Can't get a definitive diagnosis

Posted by linda2114 @linda2114, Jun 24, 2021

When I reached puberty my spine started popping and grinding and making noises. I was diagnosed with scoliosis. My symptoms increased and spread throughout my body. I have been light sensitive ever since I was a young girl. I bruise easily. Throughout the years I have been misdiagnosed, with scoliosis, anemia, hyperextensibility, lupus, fibromyalgia etc etc etc. I have had multiple blood tests,and MRI's, bone scans and bone density test's. I have seen a neurologist, a rheumatologist, a chiropractor, multiple family practitioners. I have even spoken to a geneticist. My adult daughter has the same symptoms, that I do. A year-and-a-half ago I was diagnosed with breast cancer, i d c..Which I found myself doing a self examination right before Christmas 1999. Six weeks after my surgery in January of 2020 right as the pandemic hit oh, my 30 year old son was diagnosed with acute lymphoblastic leukemia Philadelphia chromosome-positive .2020 was one hell of a year!! And 5 day's before my surgery my mother had a stroke....My mother was diagnosed with breast cancer back in 1978. I'm not sure what kind of breast cancer she had. I was tested for the braca Gene and I do not have it. Since my lumpectomy and radiation treatments and oral chemotherapy regimen started, I have experience major side effects from the anastrozole. Migraine headaches, Optical problems, brain fog. I believe that my breast cancer was caused by my undiagnosed auto immune disorder. I have had every blood test you can imagine all the thyroid panel test's even an anti-dna test everything keeps coming back negative. I'm at my wit's end. Does anyone have any advice?

Interested in more discussions like this? Go to the Autoimmune Diseases Support Group.

oldkarl | @oldkarl | Jul 3, 2021
In reply to @athenalee "Old Karl, Your journey has certainly been difficult and challenging to say the least, but you..." + (show)
@athenalee

Old Karl,
Your journey has certainly been difficult and challenging to say the least, but you have remarkably persevered against the odds. It is truly beneficial for those you’ve touched that you share your experience and strength, as well as the knowledge you’ve gained.
Athena

Jump to this post

@athenalee Thanks for the comment. I learn something new every hour, I think. 18 months ago I developed red and gray-black patches over my forehead, which spread to my entire face. It hurt like a hornet making a nest in one's ear. Anyway, the lab at the hospital said I had shingles. The doc said I had shingles. However, they could not prove it because they could not find any Zoster in me, as I have never had Chicken pox. So I searched for the answer. In my genetic work, I found I have at least a score of CALR (Calreticulum) versions, which cause just such a thing. I also have JAK2, one version, which can be part of it. The disease is also called "Clarkson's Disease", or "Systemic Capillary Leakage Syndrome", or "Exploding Capillary Syndrome". I found from experience that the best treatment is an OTC salve called "Gold Bond Psoriatic Creme with Aspirin". It not only killed the pain almost instantly, but eventually faded out the red and gray-black areas on my face. Now it is in my hair, and I may have to shave my head to put it on, unless I can find it in a thinner liquid form. Thanks, @athenalee, for you words.

REPLY
2 replies
marye2 | @marye2 | Jul 4, 2021
In reply to @oldkarl "@athenalee Thanks for the comment. I learn something new every hour, I think. 18 months ago..." + (show)
@oldkarl

@athenalee Thanks for the comment. I learn something new every hour, I think. 18 months ago I developed red and gray-black patches over my forehead, which spread to my entire face. It hurt like a hornet making a nest in one's ear. Anyway, the lab at the hospital said I had shingles. The doc said I had shingles. However, they could not prove it because they could not find any Zoster in me, as I have never had Chicken pox. So I searched for the answer. In my genetic work, I found I have at least a score of CALR (Calreticulum) versions, which cause just such a thing. I also have JAK2, one version, which can be part of it. The disease is also called "Clarkson's Disease", or "Systemic Capillary Leakage Syndrome", or "Exploding Capillary Syndrome". I found from experience that the best treatment is an OTC salve called "Gold Bond Psoriatic Creme with Aspirin". It not only killed the pain almost instantly, but eventually faded out the red and gray-black areas on my face. Now it is in my hair, and I may have to shave my head to put it on, unless I can find it in a thinner liquid form. Thanks, @athenalee, for you words.

Jump to this post

Could you thin it with a cream like Eucerin Skin Calming Cream or something besides lotion?

REPLY
1 reply
marye2 | @marye2 | Jul 4, 2021
In reply to @oldkarl "@migizii I understand well. Some of my own family is afraid of knowing about their own..." + (show)
@oldkarl

@migizii I understand well. Some of my own family is afraid of knowing about their own body, mind and spirit. At least that is why they do not get themselves analyzed. And they certainly don't give a D about my issues. I suspect they think they might have the fathers and mothers they think they have. Oh, well. Everyone has the most basic right, that of celebrating their own naivete.

Jump to this post

I have the full diagnosis of MCTD, yet the basics are the same for all of the overlapping conditions. I adapt diet )non processed, low sugar and avoid inflammatory foods) and lifestyle (movement like walking, PT) and it works well with the meds. 25 years with this, and spending time on finding the full reasons is a rabbit hole. I do know that I have this as my mom had rickets as a child, RA in adulthood. It is enough, for me. I have specialists who mind the various symptoms. I do a fair amount of planning to deal with health and readily say no to anything that is too much. I don't try to convince anyone of anything anymore.
REPLY
1 reply
oldkarl | @oldkarl | Jul 4, 2021
In reply to @marye2 "Could you thin it with a cream like Eucerin Skin Calming Cream or something besides lotion?" + (show)
@marye2

Could you thin it with a cream like Eucerin Skin Calming Cream or something besides lotion?

Jump to this post

@marye2 Good thought, Marye2. I will study that. Should work. I know I can mix water with the Noxema, But something like olive oil or (smack) peppermint? might work with the Gold Bond.

REPLY
athenalee | @athenalee | Jul 5, 2021
In reply to @marye2 "I have the full diagnosis of MCTD, yet the basics are the same for all of..." + (show)
@marye2

I have the full diagnosis of MCTD, yet the basics are the same for all of the overlapping conditions. I adapt diet )non processed, low sugar and avoid inflammatory foods) and lifestyle (movement like walking, PT) and it works well with the meds. 25 years with this, and spending time on finding the full reasons is a rabbit hole. I do know that I have this as my mom had rickets as a child, RA in adulthood. It is enough, for me. I have specialists who mind the various symptoms. I do a fair amount of planning to deal with health and readily say no to anything that is too much. I don't try to convince anyone of anything anymore.

Jump to this post

Thank you for sharing this diagram…it presents a good visual image of the the overlapping conditions. I’d love to see one with even more overlaps…mine are Sjogren’s, Primary Biliary Cholangitis, and Raynaud Syndrome…for now anyway.

REPLY
athenalee | @athenalee | Jul 5, 2021
In reply to @oldkarl "@athenalee Thanks for the comment. I learn something new every hour, I think. 18 months ago..." + (show)
@oldkarl

@athenalee Thanks for the comment. I learn something new every hour, I think. 18 months ago I developed red and gray-black patches over my forehead, which spread to my entire face. It hurt like a hornet making a nest in one's ear. Anyway, the lab at the hospital said I had shingles. The doc said I had shingles. However, they could not prove it because they could not find any Zoster in me, as I have never had Chicken pox. So I searched for the answer. In my genetic work, I found I have at least a score of CALR (Calreticulum) versions, which cause just such a thing. I also have JAK2, one version, which can be part of it. The disease is also called "Clarkson's Disease", or "Systemic Capillary Leakage Syndrome", or "Exploding Capillary Syndrome". I found from experience that the best treatment is an OTC salve called "Gold Bond Psoriatic Creme with Aspirin". It not only killed the pain almost instantly, but eventually faded out the red and gray-black areas on my face. Now it is in my hair, and I may have to shave my head to put it on, unless I can find it in a thinner liquid form. Thanks, @athenalee, for you words.

Jump to this post

Keep persevering! I’m glad you were able to find a solution. Perhaps some day more physicians will think out of the box. But, I think you’re correct on the answer being in genes. And, that is certainly a growing field of research that lends some hope.

REPLY
Mentor
Becky, Volunteer Mentor | @becsbuddy | Dec 4, 2021

@linda2114 i’ve been thinking of you. Wonder if you’ve ever gotten a diagnosis and the care you need? If you care to, would you let me know how you are doing?

REPLY
View MoreView Less
Please sign in or register to post a reply.