Progressive encephalomyelitis with rigidity and myoclonus (PERM): Help

Posted by ellenanne33 @ellenanne33, Aug 15 10:20pm

Husband worked for the F.D.N.Y and was 1st responder ar 9/11 .was there that day and several days after until they came up w a schedule and woeked on that pile for over a year .In Aug. 2020 camw down w what they believed was encephalitis / w encephalopathy seemed to be making a slight recover that even neuro. doctor at columbia Pres NYC thought it could have been a viral encephalitis until jan.2021 had a seizure somewhere around that time they did a spinal tap and came up q this current diagnosis .He had anothwr seizure dec 26th 2021 .he had brain surgery feb 2022 received plasmapharesis and ivig treatment on hospital and did real well after that noq here we arw getting ivig treatments every 4 weeks at home w ivig .see lil improvement but seems to wear off by the begining of the 3rd week ..i find it hard to believe that being doqn at 9/11 had nothing to do w this being no one in his family has had this disease and from what i read q so little literature on this is that 30 % hereditary and 70% enviormental and toxins ..someone please help .i feel helpless for my husband and dont know what to expect and if there are doctors that are more familiar w this disease .another question is if so rare rhen hoq my daughter went onto a 9/11survivor facebook page and found at least 3 people q same symptoms / diagnosis .please if someone can help sure would appreciate it .God Bless !!

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@ellenanne33 This must be so difficult for you and your family. Is your husband currently in hospital or home?
Is he followed in a specialty clinic or by special physicians? They would have access to the most up-to-date information.

Can you tell me what PERM stands for? I’m unfamiliar with the term so it’s difficult to give you better information.
This is one site I have found for help. Have you contacted the ones like this?
https://www.911healthwatch.org/where-to-get-help/
Will you stay with us? I’ll see if one of the other mentors know more

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@becsbuddy

@ellenanne33 This must be so difficult for you and your family. Is your husband currently in hospital or home?
Is he followed in a specialty clinic or by special physicians? They would have access to the most up-to-date information.

Can you tell me what PERM stands for? I’m unfamiliar with the term so it’s difficult to give you better information.
This is one site I have found for help. Have you contacted the ones like this?
https://www.911healthwatch.org/where-to-get-help/
Will you stay with us? I’ll see if one of the other mentors know more

Jump to this post

My husband is home .receives his ivig treatments at home every 4 weeks ..has his rituxamab treatments set for oct 2nd round at columbia presbyterian in nyc .yes we have an autimmune specialist from columbia w have been seeing .Perm is progressive encephyelomyetis with rigidiy monoclonous ..there really isnt any literature on this disease which is so frustrating .on same spectrun as stiff persons but more rare and complex ..just want to make sure we are doing everything right as far as his treatments and if we should be doing more or going to a doctor if we can find one that specializes in this disease. Very frustrating that the FDNY is not recognizing autoimmune diseases qhen he was a healthy 60 at the time of the start of his symptoms and actually thought he was improving any help i sure would appreciate .sincerely Ellen ODonnell

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Hi @ellenanne33, I would like to add my welcome to Connect along with Becky @becsbuddy. I also was not familiar with the condition but did find the following information.

"Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare and severe neurological syndrome characterized by muscular rigidity and spasms as well as brain stem and autonomic dysfunction. It can be associated with anti-GAD, GlyR, and DPPX antibodies."
— Progressive Encephalomyelitis with Rigidity and Myoclonus Associated With Anti-GlyR Antibodies and Hodgkin’s Lymphoma: A Case Report: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5554358/

I also found this article on treatment that you may not have seen.
— Progressive Encephalomyelitis with Rigidity and Myoclonus Treated with Rituximab: Case Report and Review of the Literature: https://repository.library.brown.edu/studio/item/bdr:tg25ev5w/

I think there are a lot of conditions that are extremely difficult to determine what the cause is and even more so when it's rare like in your husband's case. Here's a couple of articles that discuss the health effects that are a result of 9/11
— Health Effects of 9/11 Still Plague Responders and Survivors: https://www.scientificamerican.com/article/health-effects-of-9-11-still-plague-responders-and-survivors/
— Implications of the World Trade Center Attack for the Public Health and Health Care Infrastructures: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1447752/

Have you tried talking with any of your local county or state representatives to see if they have any contacts that might be helpful?

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Thank you all !! Just very frustrating …yes i have reached out to representatives and they told me to touch base with niosh.gov which i did .it just doesnt make sense that they can be so certain that this disease has nothing to do w 9/11 when they dont knoq much about this disease ….i find it hard to believe when they see autoimmune diseases on the rise …just feel helpless !!

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Somewhat related to the 3rd week waning effect of the gamma globolin

Suggestion for the waning effect of the gamma globulin IV infusion. I am self administering Hizentra gamma globulin infusions weekly for a different autoimmune disease subcutaneously with a hand held pump. The infusion takes a couple of hours, is easy, and maintains a constant blood level of IgG.
This subcu self administering was MD recommended to maintain levels from week to week.

;

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@ellenanne33 – I’m so sorry to hear what a difficult illness your husband has to deal with.
I lived in NY 9/11 and remember everything from that time.
I am with you believing that your husband’s condition is due to his exposure.
Since his condition is so rare, I doubt that anyone is going to confirm the connection.
As we know, many illnesses may take years to appear.
I agree with you that you want to know that everything possible is done for him.
Columbia Presbyterian is an excellent institution- you are lucky that way.
However , everyone has the right to a second opinion. You may ask his current physician to recommend where you can get a second opinion.
There is always Mayo Clinic or Cleveland Clinic.
Please thank your husband for all the work he did at the site- I can’t even imagine what it must have been like.

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I appreciate that …and thank you for taking the time to read ..God Bless !!

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@becsbuddy

@ellenanne33 This must be so difficult for you and your family. Is your husband currently in hospital or home?
Is he followed in a specialty clinic or by special physicians? They would have access to the most up-to-date information.

Can you tell me what PERM stands for? I’m unfamiliar with the term so it’s difficult to give you better information.
This is one site I have found for help. Have you contacted the ones like this?
https://www.911healthwatch.org/where-to-get-help/
Will you stay with us? I’ll see if one of the other mentors know more

Jump to this post

He is home .He receives his ivig treatments at home now every 3 weeks ,was every 4 weeks..Perm is on same spectrum as stiff persons but rarer .Progressive encephelomyetis qith rigiduty monoclonous ..he had plasmapharesis and ivig treatment in hospital after brain surgery then had 2 rounds of rituxamab and has his 2nd round coming up in oct ..any help please

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