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Unknown autoimmune/neurological disorder

Posted by lquillen1963 @lquillen1963, Mar 1, 2020

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

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Mentor
Becky, Volunteer Mentor | @becsbuddy | Mar 4, 2020
In reply to @lquillen1963 "John, Thanks for reaching out and your article is interesting. Yes, we have mentioned to Emory..." + (show)
@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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1 reply
lquillen1963 | @lquillen1963 | Mar 4, 2020
In reply to @becsbuddy "This may seem a little wacky, but my sister, who also has an autoimmune disease sent..." + (show)
@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.

REPLY
1 reply
Moderator
Lisa Lucier, Moderator | @lisalucier | Mar 10, 2020
In reply to @lquillen1963 "Becky, thanks for link, it should prove to be an interesting read. I am in agreement..." + (show)
@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?

REPLY
1 reply
lquillen1963 | @lquillen1963 | Mar 10, 2020
In reply to @lisalucier "Hi, @lquillen1963 - are you considering whether you might get your wife's appointment moved to a..." + (show)
@lisalucier

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

Jump to this post

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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