Help finding a PLS specialist or leading researcher

[jdg222]

In December, my husband was diagnosed with PLS by Dr. Stanley Appel at Houston Methodist. We really liked Dr. Appel, but my husband is worried he is getting worse. He was running a half marathon in June, but is now walking with a cane and has had a dozen falls. He recently is complaining of issues with swallowing. We would like a second opinion and are scheduled to go to Mayo (MN) in a couple weeks to see Dr. Margherita Milone. We have also been looking at John Hopkins as they seem to be doing interesting research and are ranked highly. I am trying to research if we are seeing the best possible doctor for PLS, but it is very hard to find someone that specializes in PLS. I assume this is because of the rarity, but also wondering if this is also because PLS often progresses to ALS???
- Would anyone be able to help me determine who are the leaders in this field?
- Is anyone doing research specifically on PLS?
- Any clinical trials in PLS? I have not found any, but just wanted to double check.
I found an old list of hospitals/doctors from 2011 on this forum, but am wondering if there is anything else up to date.

I work for a leading cancer research hospital and am familiar/well-versed with navigating the healthcare industry, working with clinicians and researchers, etc. Ahead of our Mayo appointments, we have asked if the doctor would be willing to speak with us about her expertise specific to PLS, etc., but were told she would not be willing to do so prior to our appointments. The scheduler has not responded to our email inquiry asking these questions. We understand they are busy, but given the rarity of the disease, we are frustrated by this. He is scheduled for a full work up at Mayo - EMG, MRI, video swallow test (new), lumbar puncture (new), overnight oximetry (new) and a lot of PT meetings.

Given the above, we are still new to this world and diagnosis. My husband is having a VERY hard time with the emotional side of it, especially as we are expecting. He is a worrier and overthinks things, so the unknown has been very hard for him. He is taking baclofen, a lot of vitamins and doing physical therapy, as well as seeing a therapist. The physical therapy seems to be the most helpful.

He had 2 EMG's, a full brain/spine MRI, blood work, and saw several neurologists before getting to Appel. Appel diagnosed him on the second day of a 3-day work up and said his diagnosis was based on his EMG results. I think he would have told my husband on Day 1, but he was so fragile emotionally, he just wanted to tell him he DID NOT have ALS and let that sink in. We DO have a written diagnosis from Appel, but I am cautious this was only to help him get a handle on his emotions/to give him hope. We will also go back to see Appel in April as a follow up. Appel has offered to follow him.

Thank you for any information on doctors, leading research and any advice for me (a new caregiver/cheerleader) and my husband as we navigate this new world. Please feel free to message me if specific doctor/hospital discussion is not allowed on this forum.

Thank you.

 

[Nikki J]

You might look at the NIH natural history of PLS study. It is not an interventional trial but it is run by Dr Floeter who is a specialist in PLS. If accepted he would be seen and evaluated and if PLS is the agreed upon diagnosis would return for study visits periodically though he would be cared for by his outside neurologist. You are correct I think that it is hard to find a true PLS specialist in practice probably because it is just so rare. I would think though that the ALS specialists do see PLS too and are competent to care and diagnose. Hopkins neuromuscular doctors are very well qualified as is Dr Appel

 

[lgelb]

J,
First, welcome and sorry to hear about your husband. I worked @ MDACC, so understand what you're asking, but it's not the same as onc where there are truly experimental protocols that you won't get access to unless via a leading program in that type/stage. There are more N=1 DIY "protocols" in MND than actual publishable/pre-marketing trials.

PLS and ALS are considered to be points on the MND spectrum, so there are no PLS-specific protocols or treatments. With PLS, you simply have only seen evidence of UMN dysfunction rather than LMN + UMN. As you know, an EMG that is negative for LMN damage now is not predictive of the future, with focal weakness at dx/bulbar onset two of the markers (though not definitive) for "conversion."

Yes, "conversion" to ALS is fairly common -- the largest estimate I've seen for PLS (dx confirmed retrospectively, 4y out is recommended but conversion at 10y has been seen; see PubMed links in related threads) in the US is 2k vs. 20k for ALS. Granted, the epi is mediocre -- no SEER in ALS.

So all that is by way of saying, as Nikki noted, no one practices solely in PLS per se, though some clinics see more than others (generally tertiary centers as you might expect). TMH is considered one of the top MND programs, but we always recommend a 2nd opinion, so Hopkins or Mayo certainly qualify.

In re PT, this is a therapist w/ MND experience? Overuse can accelerate progression. Without knowing much of your husband's hx, the progression you describe sounds fairly rapid for PLS.

The good news: you will be an awesome caregiver, you're in a good place to benefit from emerging technology/therapeutics and there are many people here eager to help you however we can.

Best,
Laurie

 

[Clearwater AL]

jdg222, welcome to the PLS sub-Forum... unfortunately for your husband and you. A diagnosis from Dr. Appel after all of his review and tests is a pretty solid diagnosis. The hallmark of PLS is slow progression, generally (for the most part), beginning in a lower limb, then to the other then migrating up the torso. But... a second opinion may be a good thing being that your husband went from running a marathon in June to now needing a cane to walk.

PLS really isn't near complicated as ALS... progressive weakness, spasticity, joint conjuncture, moving up later to breathing from exertion that is assisted by the truncal muscles, difficulty breathing laying flat (sleep) and eventually difficulty swallowing (all for the most part) but gradually progressing over many months and even more often taking years. For the greater majority. As compared to ALS the window of symptoms/complications for PLS is rather small. Hopefully your husbands diagnosis will remain PLS which is not terminal. But... from your description of his onset (since June) and symptoms... a second opinion may be a wise decision. Again, let's hope Dr. Appel is right.

PS. Anxiety can be an amplifier of PLS symptoms and often bring on fasciculation (twitches) which amplifies fear of it being ALS and the cycle goes on. Fasciculation in PLS is solely related to anxiety.

 

[ShiftKicker]

Welcome! Sorry to see you here.

Al, can you let us know where the faciculation=anxiety comes from? I had not heard that and find it interesting. (edit- never mind, I realize you are referring to all the DIHAL folk thinking it equals to ALS. Thought you had some sort of information about how it relates to PLS, where faciculations do happen as well)

 

[Clearwater AL]

Unlike ALS, in PLS there is no defective mechanism to cause them. Consider the word Anxiety like an umbrella that covers too much caffeine, stress, over exertion, lack of sleep, OCD, drugs (prescription or otherwise) and Google.

 

[Clearwater AL]

jdg222, again "Welcome". I want to add this... I know you both are devastated with this. But... there is good news to hang onto. For Dr. Stanley Appel rule out ALS and give you a written diagnosis of PLS is again, coming from him is good news. And..unfortunate or fortunate, to get a diagnosis of PLS so quickly. Most protocols for a confirmed PLS diagnosis (Pringle/Smith) is 3 to 5 years of observation and exclusion. PLS (for the most part) affects the larger muscles first, thighs, calves, buttocks and upward. Baclofen, besides spasticity, helps control Charlie Horses and cramps. It's good that your husband is doing PT because a common remark concerning PLS is, "Use it... or lose it." Maybe one of the doctors he will see soon will also be able to help him with his anxiety. You might check for your husbands diagnostic code from Dr Appel too. I hope you find the best Neuro you both will feel comfortable with.

 

[billbell52]

Sorry to hear about your husband. As far as the top researcher and paper publisher Dr. Mary Kay Floeter is it. My wife worked for Dr. Appel for years at Methodist Hospital. He is good and I considered going there but instead went to UTSW in Dallas and I see Dr. Elliot. He is department chair and heads the ALS research the hospital (MDA Clinic). I think he is also very good. 90+% of ALS patients will see LMN symptoms within 5 years. PLS is marked by slow progression so I am surprised to hear about swallowing problems within a year. You don't mention his age but I assume he is young. The mean age for PLS onset is 51. I have heard of cases of people getting in their 30s but it is very rare.

 

[Clearwater AL]

jdg222, I want to add, I know you both are devastated with this but there is good news to hang onto… for Dr. Stanley Appel to rule out ALS and give you a written diagnosis of PLS so quickly. Fortunate or unfortunate, most protocols (Pringle/Smith) for a diagnosis of Primary Lateral Sclerosis require 3 to 5 years of observation and exclusion. Many linger in limbo for years before they receive a diagnosis. For your records, you might ask Dr. Appel for your husband’s diagnostic code before you seek the second opinion.

Generally, most cases, PLS affects larger muscles first such as the thigh muscles, calves and upward. Baclofen somewhat relieves the spasticity but more so Charlie Horses and cramps. Some have to take high doses… 30MGs three times a day along with other meds. Maybe some helpful news… it has been reported often PLS will plateau. Hope for that too.

It’s good that your husband is doing PT because there is a common phrase concerning Primary Lateral Sclerosis, “Use it… or lose it.” Stay as active as possible without over doing it.

I hope you find a Neuro both of you will be happy with and bring your husband the best care.

 

[lgelb]

I don't want us to overstate certainty of PLS, Al. While Dr. Appel is obliged to present a diagnosis of PLS if/as not seeing evidence of LMN dysfunction (a firm criterion for diagnosing ALS), we know that does not always hold up, no matter who makes the diagnosis. Let's say, rather the dx is presently PLS and that's great.

And I was not knocking PT, but rather to say, it should be optimal PT.

 

[Clearwater AL]

Laurie, I'm missing something here... why would Dr.Stanley Appel be "obliged" to render a diagnosis? One so short of standard protocol. Such with ALS... there's possible ALS - probable ALS - diagnosis. Whatever, protocol or not... let's hope it is PLS. I could be wrong but... I highly doubt Dr. Appel would hand them a written diagnosis of PLS if he had any suspicions that it may be something else. Certainly a second opinion is fitting here... maybe he suggested it. But... Dr.Appel did schedule a follow up visit and offered to follow him. (?) For their hopes... it is not common for PLS to become ALS. Yes, there are few numbers that have but that's further adding to rarity of all of this.

 

[lgelb]

PLS is a provisional dx pending the four+ year wait to ascertain any changes signaling the new dx of ALS. But it's still written, obviously -- you code the dx that best fits the facts.

So to code PLS, evidently he did not see LMN dysfunction sufficient to suggest any shade of ALS dx (the possible/probable/etc. ALS continuum is based on regions of the body, not just any UMN or LMN dysfunction). Thus, if all you see is UMN dysfunction, both clinically and in the legal/reimbursement realm, you are obligated to render the dx that the evidence points to at the moment, that's all. There has to be a code entered on the form.

 

[Clearwater AL]

Ok, but there is a 700 code when a confirmation of PLS falls short. I'm sure many who lingered in limbo months and years for their diagnosis would have treasured a provisional code (as I think you're referring to). Whatever... let's continue to hope for the best for these folks and they find a Neuro they have complete confidence in.

 

[jdg222]

Thank you all for the feedback. I do worry Appel gave him the PLS diagnosis so he would stop worrying and get on with his life (even though he has not!). We prayed for something/anything other than ALS when MND was mentioned as a possibility for his ailments...I hope and pray it remains as such, but try not to spend too much time worrying about the unknown. The document we have is a Discharge Summary. There is not a code, but it does include the words "Discharge Diagnosis: Primary Lateral Sclerosis". Do we need to ask for something else? I do gather since our visit with Appel there is no certainty with this disease so we really do need to give it more time.

His PT is trained to work with MND. She is great and has been very helpful. Just trying to find the fine line of what is enough and not too much. I like the idea of use it our lose it!

I will also look into Dr. Floeter. Thank you for introducing her to me....

My husband is 52, so he seems to be average age for on-set. We are were just late bloomers when it came to getting married and starting a family! Wish we had started sooner now for sure, but we will make the most of it.

I will keep watching this thread and when my husband has a better handle on everything, I might introduce it to him too. Thank you for sharing your wisdom and experiences. It is very helpful.

 

[Nikki J]

Here is a link to Dr Floeter's study.
https://clinicaltrials.gov/ct2/show/NCT00015444?term=Primary+lateral+sclerosis&rank=1