Unknown autoimmune/neurological disorder

Posted by lquillen1963 @lquillen1963, Sun, Mar 1 11:32am

My wife (Linda) was admitted 4 times last year for respiratory failure due to CO2 elevation caused by an unknown neurological disorder. It was first thought by several doctors to be MG. She was tested multiple times for that to be disproved. All we keep getting told is that she has a Rare unknown Neurological/ Autoimmune disorder. Every test, CAT scans, spinal taps, MRI’s, blood test, DNA (Hypoventilation syndrome)have come back negative. She is currently under the care of Emory’s movement neurological clinic and they do not know what it is or what path to take. Her original Neurologists tested her for several things including MS, MG, ALS, PSP,etc told her that this beyond anything he had seen and needed to be in the hands of a research team. The only time that happened was when she was admitted to Emory’s Neuro-science ICU unit this past August, but once again, after multiple tests, no answers. We are just looking for answers and any kind of treatment to make her as comfortable as possible. Below is a list of her symptoms. We are hoping someone has seen something similar and will share their knowledge and experience.

Her first of 4 respiratory failure occurred on December 28,2018 and her last was August, 2019, each time submitted to ICU.

She is 56 years old, 5’1″ current weight ranges from 81-84 lbs ( her weight prior averaged 97 )

1. difficulty swallowing -started in 2018 but was infrequent and slowly progressing to now being on thicken and loss of weight.
2. blurry and double vision
3. balance – falling
4. Respiratory- rapid breathing ( failed PFT multiple times) currently Must being trilogy machine when she sleeps or has shortness of breath
5. weight loss – no appetite – (also started early)
6. depression and anxiety
7. inability to cough – uses cough suppression machine 2 times a day for assistance
8. muscle stiffness from upper torso to jaw line. basically like the tin man.
9. slight hand tremors
10. sleep abnormalities, she has had the sleep test twice. goes into REM at the beginning.

If any doctor reading this would like a full write up of her full medical history of the past two years, I would be glad to supply you with the login information for the portal.

Thank you for your time.

-Kyle Quillen

Hello Kyle @lquillen1963, Welcome to Connect. Thank you for being a strong advocate for your wife. I know it has to be difficult when no one is able to give you any answers and your wife has so much going on with her health. I did find an article that discusses the condition that may provide a little information.

Medical News Today – What to know about hypercapnia
https://www.medicalnewstoday.com/articles/320501

Have you thought about or tried to get a second opinion? Mayo Clinic is very good at diagnosing difficult to diagnose health conditions. If you would like to seek help from Mayo Clinic, contact one of the appointment offices. The contact information for Minnesota, Arizona and Florida can be found here http://mayocl.in/1mtmR63.

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John,
Thanks for reaching out and your article is interesting. Yes, we have mentioned to Emory about going to Mayo clinic but until they inform our insurance company that there is nothing more they can do, the insurance co will not pay for us to go. We have 2 appts with Emory over the next couple of months and we plan on pushing them basically to step up or move out of the way. The only time she gets immediate attention is when she is in ICU, but once she is discharged, she just becomes an number and the attention we get at the neuro-clinics is test for this and see you in 4-6 months. She is emotionally and mentally drained on top of the main physical issues and just looking for guidance.

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@lquillen1963

John,
Thanks for reaching out and your article is interesting. Yes, we have mentioned to Emory about going to Mayo clinic but until they inform our insurance company that there is nothing more they can do, the insurance co will not pay for us to go. We have 2 appts with Emory over the next couple of months and we plan on pushing them basically to step up or move out of the way. The only time she gets immediate attention is when she is in ICU, but once she is discharged, she just becomes an number and the attention we get at the neuro-clinics is test for this and see you in 4-6 months. She is emotionally and mentally drained on top of the main physical issues and just looking for guidance.

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Kyle @lquillen1963, I did a search on Connect and found a discussion with a member who has similar symptoms after inhaling gasoline engine fumes. It might be helpful to join in that discussion to see if anything stands out that might be helpful.

> Groups > Just Want to Talk > Asthma like symptoms after engine fume inhalation
https://connect.mayoclinic.org/discussion/asthma/

Are you able to talk to the Insurance company based on your wife's condition and current providers not being able to diagnose the issue? I'm guessing you have already pushed the doctors but maybe you can put more pressure on them.

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Kyle @lquillen1963, I have a number of the same symptoms, but that only means one thing: I have a number of the same symptoms! So understand our diseases may be quite different. But Here is my list as possibilities. !. Eosinophils in excess. 2. Some sort of wild type/systemic amyloidosis. I have a form (Gelsolin) which impacts the larynx and every other tissue and liquid in the body. 3. I also have two partners in crime with Gelsolin, RyR2 Cardiac Wall Dystrophy and FKTN (Fukuyama Limb Girdle Muscular dystrophy). My only suggestion would be to contact a place like Ambry Genetics and go through their inexpensive testing, both sides, neuropathy and cardiac.

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Has anyone brought up inherited spinocerebellar ataxia? Many genetic variations.

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Have the doctors done a spinal tap (lumbar puncture)? If they haven't, I recommend that they do one.

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@lynette1975

Have the doctors done a spinal tap (lumbar puncture)? If they haven't, I recommend that they do one.

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Yes, and like every other test, it came back negative.

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@lquillen1963
I'm glad they did the test. I'm sorry that they have not found the cause yet. Perhaps 2nd and 3rd opinions are needed. Hope they will find answers soon. Best wishes! 💜

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Hi Kyle, I realized I left an important factor in my journey with my health, and that is this.

I was misdiagnosed, I really had ocular MG when I took off on a long strenuous bike tour. I presented at the ER just like this marathon runner. I feel I could have died back then. This type of incident, I now suffer from psychosis and I'm on disability.
https://www.ncbi.nlm.nih.gov/pubmed/22311063/

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I am not a Med doc, and anything I write is free to download if you want it from Onedrive or Facebook/GelsolinVikingDragon. *dX* marks symptoms I share with your wife. I have RYR2 (cardiac wall dystrophy), FKTN (Fukuyama Limb Girdle Muscular Dystrophy) and Gelsolin (Amyloidosis). We believe there is more, but cannot find the proper testing lab yet. Maybe a few cancers, RA, dystroglycanopathy, etc. Those marked *dX* are some of my stuff. I have listed about 200 significant symptoms of mine, of which about 150 have been properly medically recognized by labs, clinics, hospitals, etc.
1. dX difficulty swallowing -started in 2018 but was infrequent and slowly progressing to now being on thicken and loss of weight.
2. dX blurry and double vision
3. dX balance – falling
4. dX Respiratory- rapid breathing ( failed PFT multiple times) currently Must being trilogy machine when she sleeps or has shortness of breath
5. weight loss – no appetite – (also started early) ( I do have periocarditis liquid building around heart and lungs, along with significant organomegaly-enlarged organs, tissues, etc.)
6. sX depression and anxiety
7. inability to cough – uses cough suppression machine 2 times a day for assistance (I sneeze often –Excess eosinophils)
8. dX muscle stiffness from upper torso to jaw line. basically like the tin man.
9. dX slight hand tremors
10. dX sleep abnormalities, she has had the sleep test twice. goes into REM at the beginning.
There is a lot more, but This is a start. You will learn this: The stack of markers continues to grow throughout life, both because science is learning more, and the disease, whatever it is, progresses. I suggest you also take a look at OMIM.gov (NIH) and University of Helsinki Hospital. Each of the labs has a list called something like "gene map" or "% of these symptoms shown by proven cases of ______________). I use the one for Gelsolin, which speaks of a cohort of 6,000 persons. The highest % shown are problems with thyroid, pancreas, uterus. in OMIM, There is also a frequent mention of having FKTN and RyR2 as an adjunct to Amyloidosis.

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@lquillen1963

John,
Thanks for reaching out and your article is interesting. Yes, we have mentioned to Emory about going to Mayo clinic but until they inform our insurance company that there is nothing more they can do, the insurance co will not pay for us to go. We have 2 appts with Emory over the next couple of months and we plan on pushing them basically to step up or move out of the way. The only time she gets immediate attention is when she is in ICU, but once she is discharged, she just becomes an number and the attention we get at the neuro-clinics is test for this and see you in 4-6 months. She is emotionally and mentally drained on top of the main physical issues and just looking for guidance.

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This may seem a little wacky, but my sister, who also has an autoimmune disease sent this article to me today. https://ancavasculitisnews.com/2020/03/03/elsevier-opens-books-articles-to-rare-disease-researchers-starting-rare-disease-day/. Basically, it says “statistics indicate that about 95% of rare disorders, which impact about 300 million globally, have no approved treatment. For many of theses diseases, diagnosis alone, can be challenging. In addition, many patients find it difficult to access information about their disorder and quality of healthcare.” Researchers may have learned about these diseases, but it hasn’t filtered down to your average doctor.

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@becsbuddy

This may seem a little wacky, but my sister, who also has an autoimmune disease sent this article to me today. https://ancavasculitisnews.com/2020/03/03/elsevier-opens-books-articles-to-rare-disease-researchers-starting-rare-disease-day/. Basically, it says “statistics indicate that about 95% of rare disorders, which impact about 300 million globally, have no approved treatment. For many of theses diseases, diagnosis alone, can be challenging. In addition, many patients find it difficult to access information about their disorder and quality of healthcare.” Researchers may have learned about these diseases, but it hasn’t filtered down to your average doctor.

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Becky,
thanks for link, it should prove to be an interesting read. I am in agreement that we may never know what disorder my wife truly has and it is known there is no cure and sometimes no treatments for neurological disorders. We just want one of these doctors to go out on an limb and try something to make her more comfortable. Her next appt is in April and I plan on being quite forceful and demanding for what we want to happen.
Once again, thanks for the lead.

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@lquillen1963

Becky,
thanks for link, it should prove to be an interesting read. I am in agreement that we may never know what disorder my wife truly has and it is known there is no cure and sometimes no treatments for neurological disorders. We just want one of these doctors to go out on an limb and try something to make her more comfortable. Her next appt is in April and I plan on being quite forceful and demanding for what we want to happen.
Once again, thanks for the lead.

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Hi, @lquillen1963 – are you considering whether you might get your wife's appointment moved to a sooner date?

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@lisalucier

Hi, @lquillen1963 – are you considering whether you might get your wife's appointment moved to a sooner date?

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We are as always on their priority wait list, meaning if someone cancels prior to her scheduled appt , they will give us a call. But that never seems to happen. It is very frustrating to the fact that everyone we have been to, says the same thing, she has a rare disorder that we can not identify, you would think that would drive their interest, but it seems they are just waiting for her to have another episode and end up in ICU for a 5th time. We just want someone to try something that will better her life. If they could just find a way to reduce her stiffness where see can open her mouth to properly chew and be able to turn her head to the left or right, would dramatically improve her mental state of mind.

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