Wrongly dianosed with ALS

[Anna_SBD]

My dad was diagnosed with ALS, respiratory onset, on April last year. He had bilateral diaphragmtic paralysis. At the time, we were told he would die in two months. After a year, he's not only alive, but he can walk, eat, drink, go up and downstairs, go to toilet, speak perfectly normal, write (according to his age, he's just turned 80), etc. He has symptoms from the LMN but none from the UMN. But yet, the doctor treating him has not recognised this fact and he's been left to die. His breathing is worsening, his extremities are weakening, he's without any type of treatment. Extreme fatigue and bilateral diaphragmatic paralysis.
His illness started in February 2020, he got a really bad cold, he lost his appettitte and gradually weight, musle and some strength. In 2 years he lost 20 kilograms. In March 2022 his weight was 47 kg. He started with dyspnea in Oct 2021, 17 months after his first symptoms and after 4 gastroscopies. But I believe doctors haven't taken this into account.
He'll die because of being wrongly diagnosed with ALS.

 

[KimT]

I'm so sorry.

LMN dominant is still ALS. I'm lower motor neuron dominant. Did you get a second opinion? I'm assuming he is on BiPap? It could be progressive muscular atrophy, which is another LMN disease but it's also progressive.
I would get another opinion. If by some miracle, it's an autoimmune disease mimic or other mimic, it might be treatable. If it's LMN, the prognosis is the same. Shame on the doctor for telling anyone a timeline to death.

 

[lgelb]

The standard EMG that is a big part of diagnosis is usually only able to show LMN damage. It sounds like they thought his breathing was going to stop being enough very early on. It's wonderful that wasn't the case. Other than that, it's not at all unusual that he can still walk and talk a few years in. There could be other reasons for a localized paralysis, but your statements that other areas are progressing still point to a widespread disease as was supposed.

Has he been offered any of the "R drugs?" And as Kim says, BiPAP would usually be offered to help his breathing. These are treatments that would be the same whatever combination of UMN/LMN damage he has. The BiPAP could make him a lot more comfortable for longer, no matter how his limbs progress.

If his current center isn't responding to these needs, which are recognized worldwide, or the diagnosis was never confirmed, you are certainly in a location where he could visit a second center, or even potentially be seen via video with his records.

MNDs besides "strict ALS" are typically still very disabling. So even if he has another MND, he should still be treated pretty much the same way. The EMG would have enabled the doctors to distinguish between nerve problems and muscle problems (myopathy) that would be treated differently. But without knowing all the reasons he was diagnosed with MND, if there is any doubt, it should certainly be addressed.

Best,
Laurie

 

[Anna_SBD]

Thank you very much for your reply. He's seen by other doctors. But things are more complicated than it seems. We live in Spain, here we have mainly social welfare, with visits and medicines being subsidise by the Government. We also have private doctors, but they are too expensive. This is our experience so far: my dad was diagnosed with ALS a year ago by a doctor from the social welfare system. Then in April, we had to insist to them to prescribe him Riluzole. However, since we (the family) felt strongly that my dad didn't have ALS, we only gave him the medicine for a few days without informing the doctor. Surprisingly, his doctor never prescribe him again the R.... We did have other opinions from other hospitals and doctors within the social welfare system who simply read my dad's history (that did not included key details like his illness started 3 years ago), and who simply "agreed" with the diagnosis.
On the other hand, we have consulted private doctors, quite far away from where we live, by video call, who saw my dad, the way he could walk, stand up from the sofa, etc and who believe that my dad has not ALS but could be Multifocal Motor Neuropathy or Myasthenia Gravis generalized.
My dad has no muscle atrophy, only his hands, he has no shaking legs when walking, only fatigue, he can bottom up his shirt. In a years time, his motor reflexes are the same, they have not degenerate for a year, is this ALS???
They have not try other treatments such a Ivig as suggested by a private doctor. I guess it's too expensive for the social security welfare...
I hope some day they find the cure for this terrible disease to help so many people who is suffering so so much, themsrlves, their families and friends. I hope sometime they find the a test 100% reliable for the diagnosis of this terrible disease, cause at present there are both, patients diagnosed with ALS who do not have ALS and also patients with ALS who have been diagnosed with something else. And none of these patients are receiving proper treatments.