Share this:
car07
@carsonamy07

Posts: 4
Joined: Sep 17, 2018

Autoimmune?

Posted by @carsonamy07, Mon, Sep 17 9:56am

So I usually never join these discussion forums, however, after soo many tests and new Dr.s(to try and get a new fresh set of eyes) I am so frustrated and not sure what to do or who to see. I have had pretty much all antibody blood tests and everything always comes back beautiful(which is what you want) with a few things approaching high/low. Only thing I have been caught with is my Lipase was doubled in my most recent ER visit. I have joint pain, stiffness that does not get better and is always there worsens with activity. Sometimes for days/weeks depending on how much activity I did, clumsy, night sweats, hair loss, sensitivity to cold/sun(get rashes when exposed to sun-increases joint pain to almost flu like ache) insomnia, Gerd, stomache pain after eating, bloating, constipation/diarrhea, changes in bowel movemenmts, bleeding issues(clotting/hemmorrage)…etc.. list goes on. I had an extremelly complicated pregnancy this past year had to be on IV then got preclamsia. Have had pain for over 11 years just always associated pain with my bulging herniated discs in spine until pain started traveling to arm, hands, feet. Drs think possible auto immune but no test concludes and I have always given up in past when every test comes bacx fine I start to feel crazy. I’m not one to like being a guinea pig so don’t take much meds unless natural as just masking symptoms doesn’t fix problem and can cause other problems. GI specialist said she is going to put me on a low dose steroid for long term as lab test aren;t conclusive of auto immune but symptoms are and she worries of not treating and then I end up with damageing issues. Please Help!! any ideas

REPLY

@carsonamy07 I have an idea, friend. For as far as I can go, this one is easy. You sound like me. That's what makes it easy. I have almost all the same symptoms, signs, history, etc. Take a look at Hereditary Gelsolin Amyloidosis. I won't go into the whole thing here, but my symptoms, history, etc., are spelled out at https://bit.Ly/1w7j4j8 "Amyloid and Old Karl" It is there for everyone to see and learn from, and mark off your own stuff. The problem diagnosing Gelsolin? It is one of the slowest growing disorders known to primates. For You and me, it begins with a perhaps a single living protein cell, called a prion, which gets into your being at conception. In the next few hours, it will float around, then clone itself a time or two or three, then die, float around in body fluids for a brief time, then attach itself someplace. Maybe to the heart, or cerebrum, or toes, or eyes or wherever it has the shape and other characteristics. Together they form fibrils, little water-filled tubes invading muscles, nerves, bones, teeth, corneas, whatever. Other dead prions will attach themselves eventually, and there you go. By the time you are 70-80 years old, there is enough dead protein material to be noticed. Of course, this can start much earlier, as you know. At some time there is a test that is very accurate. SERUM (not plasma) sFreeLiteChain(c) The Bindings Site (Birmingham UK and Seattle Washington and Mayo and ARUP) will tell you within about 99% accuracy if you have some form of Amyloidosis. If either your Kappa or Lambda weights are out of the Reference Range (measured usually in Milligrams per deciLiter) you are almost sure to have Amyloidosis Lite Chain. Your ANA says you have some autoimmune disorder. Your symptoms just narrow it down. Now, there are several disorders apart from Gelsolin, but I think Gelsolin is pretty close. Another is "Evans Syndrome", They are pretty close to each other but ES does not have the strong protein involvement. One atom out of place in the prion changes the place the fibril will build, such as from the toe to the heart ventricle wall. Mayo, MD Anderson, Sloan Kettering, Boston Amyloidosis, Stanford are some of the places to go for diagnosis. Let us know how you do. Martha Grogan at Mayo is great. Ron Orlowski at MD Anderson in Houston, etc. NIH has an enormous library. Helsinki University Hospital has much on Gelsolin.

Liked by dazlin, gingerw

Hello fellow sufferer: Hopefully you will find a way to alleviate the pains. I am sorry to say that after 81 years I have been to many, many doctors. Now I have been retired for may years which makes it easier. I know where all the bathrooms are in all the stores big stores, little stores, etc. Sometimes I do not make it in time. I have thrown away many undergarments. And on and on. You cannot always purchase on line. Sometimes you need the product immediately. Sometimes you need to get out of the house and roam around a store for a purchase or not. I have been hospitalized and seen many doctors and have had many invasive tests (which can kill you) Still waiting for the PRACTICE of all these doctors to actually work. Keep on with your life no matter how painful it is. Wait for the pains to retire then breath in a deep breath and again thank the lord. Just think at least we have functioning bath rooms and not an outhouse like the Alaskan Bush People. We could live their lives but, not with an outhouse. Laughter to me is one of the greatest acceptances of life's huge problems. With love, Peach

Liked by lioness

Hello @carsonamy07, welcome to Connect. I want to thank you for reaching out to Connect. There are a lot of members here with similar health problems and it's a good place to safely share information and find out what others are doing or have done for treatment. There currently is another very similar discussion that you may want to read through here:

Groups > Autoimmune Diseases > Autoimmune diagnosing
https://connect.mayoclinic.org/discussion/autoimmune-diagnosing/

I'm glad you have met @peach414144 and @oldkarl who have provide some good information. I am tagging our moderator Kanaaz @kanaazpereira to see if we can move your post and the discussion to include it into the above discussion where you will meet other members and have more exposure for your post and questions you may have.

@carsonamy07 have you thought about seeking a second opinion or a referral?

John

@johnbishop

Hello @carsonamy07, welcome to Connect. I want to thank you for reaching out to Connect. There are a lot of members here with similar health problems and it's a good place to safely share information and find out what others are doing or have done for treatment. There currently is another very similar discussion that you may want to read through here:

Groups > Autoimmune Diseases > Autoimmune diagnosing
https://connect.mayoclinic.org/discussion/autoimmune-diagnosing/

I'm glad you have met @peach414144 and @oldkarl who have provide some good information. I am tagging our moderator Kanaaz @kanaazpereira to see if we can move your post and the discussion to include it into the above discussion where you will meet other members and have more exposure for your post and questions you may have.

@carsonamy07 have you thought about seeking a second opinion or a referral?

John

Jump to this post

I have been to 4 primary care, currently just saw a GI specialist and Rhuematologist. What worries me is I’m only 34 years old a mother of 3( 16-8-8months) with problems I shouldn’t be having until after 50. My spine has signs of DDD and as my rheumatologist has said I’m too young to show those types of changes it’s just hard to narrow down what auto immune could be causing such problems as my blood work besides lipase is perfect. I used to be able to push through the pain but it’s getting very hard to juggle life kids and the pain/symptoms

@carsonamy07 I can think of several AIs that be causing your problems. Evans Syndrome(Mayo). ATTR- (AmyloidTransThyRetin; check with Alnylam), Gelsolim (MD Anderson, Stanford), LECT2, Apolipoprotein, Multiple Myeloma, Carnetine, Cystatin-C. Each of these has many mutations, are primary or secondary, inherited or mutations, etc. A better list is in the first dozen or so pages of my Dossier, https://bit.Ly/1w7j4j8

@carsonamy07

I have been to 4 primary care, currently just saw a GI specialist and Rhuematologist. What worries me is I’m only 34 years old a mother of 3( 16-8-8months) with problems I shouldn’t be having until after 50. My spine has signs of DDD and as my rheumatologist has said I’m too young to show those types of changes it’s just hard to narrow down what auto immune could be causing such problems as my blood work besides lipase is perfect. I used to be able to push through the pain but it’s getting very hard to juggle life kids and the pain/symptoms

Jump to this post

I'm sorry you are having to deal with degenerative disc disease at such a young age. It's hard enough to deal with when you are my generations age but to be a young mother I'm sure it more than doubles the pain and stress that goes along with it. I'm glad you are being proactive and working with your doctors. I did find a few links with information addressing DDD in younger people that may be food for thought. The second link also has some treatment type info that may help with the pain.

Laser Spine Institute – Early onset degenerative disc disease causes
https://www.laserspineinstitute.com/back_problems/degenerative_disc_disease/what-causes-degenerative-disc-disease-in-young-people/

Spine-Health – Juvenile Disc Disorder (and young adults)
https://www.spine-health.com/conditions/lower-back-pain/juvenile-disc-disorder

Thank you so much for the info. I have been dealing with DDD and herniated discs for about 11years no hx of injury I’m not overweight I eat fairly healthy. I have done multiple bouts of physical therapy, ultrasound cupping, acupressure, massages….you name it. I will not take pain meds as they are addicting and bad for you. But I have this gut feeling as well as Drs something is going on causing all these symptoms. The frustration is always coming up empty handed!! Dr believe there is some sort of auto immune exspecially because my Lipase is elevated and wants to put me on prednisone for a long time but I’m not sure if that’s a good move or not.

@carsonamy07

Thank you so much for the info. I have been dealing with DDD and herniated discs for about 11years no hx of injury I’m not overweight I eat fairly healthy. I have done multiple bouts of physical therapy, ultrasound cupping, acupressure, massages….you name it. I will not take pain meds as they are addicting and bad for you. But I have this gut feeling as well as Drs something is going on causing all these symptoms. The frustration is always coming up empty handed!! Dr believe there is some sort of auto immune exspecially because my Lipase is elevated and wants to put me on prednisone for a long time but I’m not sure if that’s a good move or not.

Jump to this post

Another tool I use for searching for info is Google Scholar (https://scholar.google.com/). You can find research type information and it gives you the ability to sort by year to see the newest information. You might try several different symptoms for phrases doing the search.

I'm not sure if it's an option but Mayo Clinic is really good at diagnosing hard to diagnose issues and coordinate between doctor teams and areas for tests. If you would like to seek help from Mayo Clinic, you can call one of the appointment offices.
The contact information for Minnesota, Arizona and Florida can be found here:
http://mayocl.in/1mtmR63.

I thought the following video might be helpful.

What happens when you have a disease doctors can't diagnose TED talk by TED Fellow Jennifer Brea who became progressively ill with myalgic encephalomyelitis, commonly known as chronic fatigue syndrome.
https://www.ted.com/talks/jen_brea_what_happens_when_you_have_a_disease_doctors_can_t_diagnose

John

I have seen this video. Heartbreaking because I too have had the same experience with Doctors. They see me come in and I am young and appear healthy under all the make up! They assume I making it up or my mind is "causing" these symptoms. I went to this one Dr and in 1 month diagnosed my first with Fibromyalgia (just to give me a diagnoses) and I knew it was not the case so I pushed for them to dig deep, if he couldnt without a doubt say I have Fibromyalgia then I don't want to just try a handful of medicines that have lots of side effects some of which I already have! Then by next appointment he said I probably have conversion syndrome that I am suppressing something so deep I'm causing my body pain. Then last appointment with him 4 days post total hysterectomy he tells me I hurt all over because all I do is lay around! I'm thinking he was mad because I did not take the psych meds he wanted me to try because they do a good job in helping with the pain(mask the pain!) I brought in my natural supplements that do the same thing just naturally. Until I have a confirmed diagnoses not sure I want to try any man made medicine. Sometimes Drs are quick to pull out RX pad and start writing instead of digging and then questioning WHY, WHY are these symptoms happening.

@carsonamy07

I have seen this video. Heartbreaking because I too have had the same experience with Doctors. They see me come in and I am young and appear healthy under all the make up! They assume I making it up or my mind is "causing" these symptoms. I went to this one Dr and in 1 month diagnosed my first with Fibromyalgia (just to give me a diagnoses) and I knew it was not the case so I pushed for them to dig deep, if he couldnt without a doubt say I have Fibromyalgia then I don't want to just try a handful of medicines that have lots of side effects some of which I already have! Then by next appointment he said I probably have conversion syndrome that I am suppressing something so deep I'm causing my body pain. Then last appointment with him 4 days post total hysterectomy he tells me I hurt all over because all I do is lay around! I'm thinking he was mad because I did not take the psych meds he wanted me to try because they do a good job in helping with the pain(mask the pain!) I brought in my natural supplements that do the same thing just naturally. Until I have a confirmed diagnoses not sure I want to try any man made medicine. Sometimes Drs are quick to pull out RX pad and start writing instead of digging and then questioning WHY, WHY are these symptoms happening.

Jump to this post

@carsonamy07 On this strip we all have our horror stories about doctors. My echo tech pointed out to me that my pancreas tail was much larger than it was suppose to be. When my cardiologist saw that, he said it was impossible, and an equipment failure, so he erased the report off the computer. That single piece of BS cost me a chance to get my diagnosis straight.

@carsonamy07 – Sorry you're having so many problems. I find the Lab Tests Online website (it's a .org; I'm not allowed to post links apparently) particularly helpful, as you can search any test and see why it might be ordered, anything that might affect the result (like if you need to fast, or stop vitamins) and what high or low results might mean. The other thing I thought I'd throw out there is to recommend you have your thyroid function tested if you haven't already. It may not be the cause of all your problems, but thyroid function can change after pregnancy and cause a wild array of problems. Night sweats also made me think of TB or mastocytosis (flushing/hot flashes). Mast cell activation disorders can display a wide variety of symptoms as well. I hope you're able to feel better soon!

Please login or register to post a reply.