My dad is newly diagnosed but his symptoms confuse me

[Kittycat]

Dad has been diagnosed with bulbar onset ALS. His voice is very weak and his swallow isn't good, though he refuses to get a feeding tube. He is still just as mobile as he always was, though there is a lot of obvious muscle wastage. However, he's 68 but as physically active as a man half his age. He walks several miles a day and hasn't stopped working. (We do try to get him to relax but he's always been very active and refuses to sit still). He has no apparent weakness either and is still able to lift and carry heavy things. He is hunched over in the shoulders but appears as fit as a fiddle physically. Is this unusual? I'm wondering if the diagnosis might be off? Possibly clutching at straws but surely there should be some physical mobility issues by now. I was wondering if Kennedy's disease might present like this?

 

[lgelb]

It could. Was it ruled out? There is a genetic test if there is uncertainty. But as you know, some ALS progresses slowly. You can find features of Kennedy on line and compare.

 

[Kittycat]

I have looked up kennedys after the doctor mentioned it as something they will test for and it seems a fair fit to me. We are waiting for those results to come back, but the doctor said she felt it was unlikely because it follows the males in the family and we arent aware of any others with it. That said, my dad did not know his mums family at all, so we don't know the medical history there, she could have been a carrier, and all three of his brothers died tragically quite young (house fire, suicide, and a brain tumour). He is the eldest man in the family and therefore, as I understand it, the most likely to show symptoms first. They're also testing for familial als, but there is no known history of that either. Does familial als present differently to sporadic als?

 

[affected]

Hi Kit,

So sorry to hear about what is happening with your dad.

Bulbar onset means that his speech and swallowing are where the symptoms start. You say his voice is weak, is it slurred?

My Chris was bulbar onset and the speech and swallowing issues started around the middle of 2012. By xmas 2012 his speech was very poor, but he was still very fit and active and could outwork anyone.

Around Feb 2013 he started showing hand and arm atrophy. By May 2013 when he was diagnosed he had clinical weakness in his hands.

I'm saying all that to show that with bulbar onset, the weakness may not start in the limbs for some time, so your dad is possibly showing quite normal progression.

Once the hand and arm weakness began to progress, he generally progressed quite rapidly, so it was a shock after such a long time of only the bulbar symptoms being a concern. However we have other bulbar onset PALS here who have progressed reasonably slowly for several years.

One thing you learn with ALS is that whilst there are a lot of 'typical' things, each person does progress differently both in where progression hits and how fast it hits.

Familial ALS doesn't present any differently, but it often has some similarities in how it presents within a particular family, and depending on which gene is causing it.

 

[Kittycat]

Thanks Tillie. I wouldn't say his speech is slurred. Maybe I'm just so used to him and it was so gradual that I haven't noticed, but I don't think its slurred at all. His voice is fainter than it used to be. This is a symptom of kennedys as well. He began having swallow and speech issues about a year ago, maybe a bit more. He's lost an awful lot of weight and the doctor says he has muscle wastage and fasciculations. He's very frail looking, but these are also kennedys symptoms. Both his consultants have remarked on his unusual mobility and I know someone else who had als and they had much different symptoms. I guess maybe everyone is different. I'm just hoping there's light at the end of the tunnel since kennedys disease comes with a normal life span. I could well be clutching at straws, but they are testing him for it so we will see.

 

[gooseberry]

With respiratory onset or bulbar pals can be mobile . My husband is respiratory onset. He can physically walk but can not due to lack of air because of his breathing

 

[affected]

It's a big difference in the speech issues too.

Bulbar affects the tongue, so the speech is slurred. Respiratory affects the volume of the voice because you speak by passing air through the vocal chords.

In either onset, the limbs may not be affected for some time. Some bulbar and respiratory onsets even remain mobile, at least to some degree, the entire time.

Sadly it's the ability to breathe that makes the disease terminal, so whether or not mobility is affected is a matter of which nerves are killed off by the disease in which order.