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

@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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