new Upper MND diagnosis

[dancergymnast]

Hey everyone,

I was just diagnosed today with upper motor neuron disease. I have been sent to a different team of doctors to get genetic testing to rule out HSP, so if it's not that, then I'm looking at PLS.

I'm only 28 years old, and from everything I've read about PLS, a diagnosis is usually made mid 40s-mid 60s (more or less). Has anyone else been diagnosed at a much younger age? What does this mean for the projected progression of 20 years? Will life expectancy remain normal?

 

[dancergymnast]

I'm hoping to make some connections here. Any other young UMN cases out there?

By the way, I live in Spain, but I'm from Michigan.

 

[Nikki J]

Hi sorry you did not get any answers yet. You posted in an appropriate place but I have moved this to the PLS section as not all the UMND people read the other subforums. Not sure we have any PLSers your age but I am sure the group will try to help as they can

 

[lgelb]

We do have one fairly young UMND member (Suzannah) whose precise diagnosis is still in doubt. Perhaps she will chime in. UMND is less likely to affect lifespan than LMND in pretty much any subtype but as with all MND the adaptations you will need to make will vary. Sorry to hear your news.

Best,
Laurie

 

[Suzannah]

Hi Dancergymnast (nice user name! I used to be one of those, too),

Sorry you find yourself in this situation. As Laurie mentioned, I am young-ish (37 now, but my symptoms started in earnest sometime in my early 30s.

I was originally diagnosed with HSP at age 35 by a top US ALS doc. My symptoms at the time appeared to be extreme spasticity in my legs and hyperreflexes and clonus in all limbs. I had genetic testing for HSP and a mutation was found, but it had never been seen before, so no conclusions could be drawn. I never much believed the HSP diagnosis, and my symptoms have been changing. In the past year, I've been undiagnosed with HSP by three different experts, but nobody can quite give me another answer yet.

Have they explained to you that the HSP testing might not be definitive? If there is a match with a known gene defect, then you can rule it in. But if nothing shows up, or you get a random mutation like me, then the answer is still, who knows? Not all of the genes have been identified yet.

What are your primary symptoms right now?

What I have found most helpful for me is to continue to stay as active as I can, as carefully as I can. I do a lot of yoga (but hold on to the wall on all the balancing poses) and swim and I just started spin classes (I am extraordinarily slow, but it keeps my legs remembering how to move in opposition) and I recently just started taking adult ballet classes (which I can do oddly well).

But whatever you do, DON'T FALL. That is rule number one for any type of motor neuron disorder. I have had several bad falls and am lucky I haven't done any major damage yet.

I had that same question about life expectancy and haven't seen any answers anywhere yet because it is so rare.

If you use facebook, there is a good group called Spastic Paraplegia Foundation. It covers both HSP and PLS and moves a little faster than this subforum. But this is a great place to get information. I'm happy to answer any questions as best I can.

Sincerely,
--Suzannah

 

[dancergymnast]

Hi Suzannah,

Thank you so much for your reply. I'm sorry to hear about your diagnosis frustrations, especially coming from top doctors.

It's funny that you say "don't fall," because all of this madness for me started with when I broke my tibia in a fall. After the bone healed, I was left without plantar flexion and with myoclonus on forced plantar flexion, so the doctors thought maybe I damaged the tibial nerve, which passes through exactly where I broke the bone. But the neurologists and neurosurgeons couldn't find any evidence on an EMG or somatosensory evoked potentials to confirm physical damage, so the final diagnosis was just nerve compression that would heal over time (they estimated 8-12 months).

In the end it never really healed, so I went back to a different neurologist this year. She thought the problem was originating in the Central Nervous System. I also have a couple herniated discs in my neck, which she originally thought might be causing cervical myelopathy, but that theory was eventually discarded by five doctors. After tons of other tests, I was left with UMND.

Apart from the lack of plantar flexion in my left ankle, the first symptoms my current neurologist noticed were ankle clonus in both ankles, hyperreflexia both arms and legs, and Hoffmann reflex in both hands. I have now developed a handful of other symptoms - complete loss of range of motion left ankle, loss of plantar and dorsal flexion right ankle, weakness and loss of mobility and grasp ability left hand and forearm, and loss of mobility in right pinkie finger.

I have been keeping active on the elliptical I have in my house, as well as doing ab and arm exercises, although it's becoming more difficult to do arms, with the weak left forearm. I am a Latin dancer but have found dancing quite complicated without the ability to lift up my heels to turn, especially in salsa, which is quite fast.

Thanks again for responding and for all the information. I hate that this is happening to both of us, especially so young, but it is somewhat comforting to know I'm not the only one and that I have someone to bounce ideas off of.

Thanks again,
Liz

 

[sleepy]

I am 39... I have als but umn dominant so thought I'd check out this forum as well. Welcome. And I'm so sorry. I can only imagine how hard it would be to not get a clear answer.

 

[billbell52]

Sorry to hear about your diagnosis. The median age to get PLS is 51. I don't remember the range but it seems like 40-60 is about right. So 28 is very young. I communicated with someone who got it in her early 30's. Progression varies all over the map. Some people are using a walker after 20 years and some are confined to a power wheelchair (PWC) after a few years. You generally don't die directly from PLS so life expectancy should remain the same.

I've had PLS for 13 years and got it at 51. It started with my speech. After 7 years I was in a PWC. However, I haven't progressed much in the last 6 years.

Here is a paper my doctor published in 2007. In one study someone got it at 23.

 

[Green Queen]

Hi Liz
Welcome here. Sorry you find yourself with this diagnosis.
There is a lot of support and information here, you have found the right place.

 

[dancergymnast]

Hey everyone,

Thank you so much for the support. I am going to see a neurologist in another state tomorrow, who works in a partner hospital of one of the leading motor neuron disease teams in Spain. Not expecting another opinion, but hoping to make a connection for possible future clinical trials. Then next week I see a neurologist in my local hospital to see where to go from here.

 

[dancergymnast]

So I was admitted to the hospital to have more testing done and to have other tests repeated. At the end, I was undiagnosed with UMND and rediagnosed with a possible psychosomatic conversion disorder. My doctor said that I don't have a clinical presentation of UMND (wait, WHAT?!) and that because I can still manipulate objects like my cell phone and can stand and walk, I can't have UMND because people with UMND can't do those things (I mean, let's be honest here, no one with UMND, not even ALS, goes from fine to completely paralyzed overnight...). Also, apparently some of my reflexes are atypical, like how she labelled my left ankle myoclonus (I have both clonus and myoclonus in that ankle) as an atypical clonus (does she even know that something called myoclonus exists?).

I think also one of the reasons she thinks this way is because in a couple of places where they test for reflexes with the reflex hammer (ankle tendon and just next to the shoulder, near the collar bone), my muscles jump not as a reflex, but like when a stimulus hurts you (residual collateral damage from old injuries). There aren't real reflexes in your back, but my back muscles react the same way. They jump in response to a stimulus touching them (collateral damage from old injuries). I was going to try to explain this to her, but after she shut me down trying to ask about and explain another thing, I decided it wasn't even worth the argument. She had already made up her mind.

Another thing they thought I shouldn't be able to do if I had UMND is walk a straight line, one foot in front of the other. I could, but with great difficulty. That is something that never was nor should be difficult for me. I was a gymnast for 15 years, and I could walk on my toes, backwards, eyes closed, on a 4 ft high and 4 inch wide balance beam, easily. My concept of balance is different from most people.

Also, in the motor evoked potentials test, there was a small alteration in the right leg, compatible with compromise of the pyramidal tract. The other thing they found was an apparent discrete atrophy of the anterior horn of the cervical spinal cord.

I mean, it looks to me like all the signs are unfortunately pointing to UMND. My private neurologist was just as shocked as me to hear what they had to say.

Has anyone had a similar experience? Any psychologists out there with an opinion? (I studied Psychology as part of my university degree, and I know all about conversion disorders, and I can't see how I could possibly have one).

I'm extremely frustrated because I went to the public hospital in the first place not for a 4th opinion (I had 3 private opinions of UMND), but because my local private neurologist sent me there because she couldn't do anything more for me at her consult. And I feel like all the signs and symptoms, and the 3 previous opinions (one from a John Hopkins trained doctor in Madrid) were completely downplayed.

 

[old dog]

I won't attempt to address all your concerns. I think I may have had symptoms for many years and attributed them to other causes. When I received my PLS diagnosis in 2011, I still had good hand and finger dexterity and could walk after a fashion. Prior to diagnosis, I had been through physical therapy three times. Following each session, I was better for a period of time--several years, after the first PT session. When I started developing permanent problems, (foot drop, balance, slurred speech) I was referred to a neurologist who I later stopped seeing because he didn't come up with a diagnosis and wouldn't refer me to the teaching hospital here. The second neurologist told me I definitely didn't have ALS but gave me the referral I was looking for.

If you feel you are being jerked around, go elsewhere. It may be many years before your symptoms become completely disabling.

 

[Suzannah]

Ugh, I'm so sorry. I know all too well that, "wait, WHAT?!" feeling. After two years of coming to terms with "having" hereditary spastic paraplegia, it was quite the mindf*** to be told I didn't exhibit ANY signs of spasticity.

It's interesting how similar our experiences and backgrounds are. I was a gymnast for 10 years and have been an athlete my entire life. I really think my preexisting abilities and strengths skew the clinical picture. I studied psychology, too. I haven't had anyone pull conversion disorder on me yet (though I've been expecting it at some point) but have been accused of faking by both a neurologist and a neuropsychologist. Lovely.

Have you gotten your HSP genetic test results back yet? I recently had some testing done by a new company called Veritas Genetics that does whole genome testing for $999 USD. I had to pay for it out of pocket and am still waiting on the results, but I am hoping that it might be the thing that finally unlocks the answer.

Ugh. I'm frustrated on your behalf. Do you have a next step?

At some point, I guess we may just have to accept that no real answer is forthcoming any time soon.

Take care,
--Suzannah

 

[ShiftKicker]

There is nothing worse than having someone tell you it's all in your head. I am so very sorry you have run into such a situation. It seems quite common with those who have hard to place/atypical motor presentations. I am very glad you have a doctor who is on your side, regardless of a crappy neuro experience.

While I initially had my family doctor tell me my fatigue was depression and send me to a psychiatrist who specialized in somatoform disorders, as soon as my spasticity/leg issues reared their ugly heads, she became convinced otherwise by neurologists. I still have trust issues with doctors, and doubt myself sometimes. What helped me was the psychiatrist. He has been my lifeline this past year, and I have not regretted seeing him, even though I thought he would spend his time trying to convince me I was being hysterical. I recommend you see a psychiatrist who deals with somatoform/functional disorders-they will very quickly see what is, or is not, a functional disorder- plus will help you navigate a medical system and diagnostic process that let you down.