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Kittycat

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UK
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Antrim
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Hello, I'm new here. My dad has just been diagnosed with MND. He's 68. The doctor told us last week that she is about 50% sure that it's familial MND. We have no history of it that we are aware of but my fathers mother died in her late 50's from an unknown illness. She was very frail and bedridden with curled up hands and legs. She actually died of pneumonia in the end, which I know fits with MND, but my dad had always been told she had arthritis. Of course arthritis doesn't kill you or waste you away in your 50's. The doctor feels that this could have been undiagnosed MND. We don't know anything about the rest of her family as we've never had contact with them. I'm told she had a normal voice at all times. Is it ever possible to have MND to the extent of being bedridden etc but to still have a normal voice? My dads voice is very weak.

I'm very worried because I have had symptoms that fit since before Christmas at which point I'd never even heard of MND. I'm 35. I'd been to the doctor with some breathing issues, especially at night, and I've been tripping over things with one foot or stubbing my toe very regularly, sometimes two and three times a day. It's always the same foot. I now feel that my right arm is weaker than the left and that my legs are heavy. Of course this could be psychosomatic because I'm so worried I'm looking for problems and seeing issues where there are none. I also feel that I'm frequently stumbling over words. I have no obvious muscle wastage or fasciculations or anything like that. I think if I do have it its very early stages and I'd never have thought of it if the doctor hadn't brought up familial MND. She also mentioned kennedys disease but seemed to feel that that is unlikely. This wouldn't affect me of course as I am female. She focused a lot on our family history of depression and a suicide. I've never heard mention of depression or suicide having a link to familial MND. Is that an established link?

I'm basically worried sick. I know no one has the answer or can diagnose me, but I could do with some support or reassurance until we get the results back. Thank you in advance and sorry for the panicked rambling!
 

Atsugi

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Kittycat, I'm sorry to hear you're so distressed, and it's perfectly normal to be hyper-aware of every possible symptom when you're scared. But you haven't described having ALS at all. It just doesn't work the way that you detailed.

There's no link to suicide, but it is a legitimate concern with fatal diseases. ALS doesn't cause depression, but many people with a fatal disease can, of course, become depressed.

For now, don't worry about Familial ALS, as you're not showing any symptoms. Let's see what the test results say.
 

Nikki J

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Hi sorry about your dad and your worry. It would be strange for you to present so simultaneously with your dad and your symptoms certainly seem too diffuse to be MND. But go to your gp and get checked for peace of mind
Regarding suicide and depression. Mike is correct that they happen often as a result of MND. However there is a presentation of c9 orf72 as psychosis which is probably where the doctor is coming from. If it is familial the odds are very high it is c9. It is the most common cause of FALS and especially among Northern Europeans. I am c9 imported directly from the British Isles. The good news about that is c9 was discovered in late 2011 and because it is relatively common AND can cause dementia instead or as well there is a LOT of research going on and a couple of very promising technologies in the works
 

Kittycat

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Joined
Apr 12, 2015
Messages
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Loved one DX
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04/2015
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Antrim
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Thank you both. I really appreciate you responding to me. I was confused by her bringing up family history of depression and suicide too. I was too confused at the time to ask any meaningful questions though. She must think there is a link as im not sure what other evidence there is to suggest that my dads MND is the familial kind, aside from his mother possibly being undiagnosed. Would it be unusual for her to have had MND but to have had no loss or change of voice? Apparently she spoke a lot and had no voice issues right up to the end.

My dad appears to have some kind of dementia too. I forgot to say that. Is dementia a sign of familial MND? He is very thin right now, having always been strong and well built. However, he is really fit and walks many miles per day. That is unchanged. He's also more or less as strong as he was and still works 12 hours a day on his small holding farm. He doesn't have to, he wants to and he appears to manage it fine. Is that unusual too? His voice is very weak though and he is forgetful and says strange things sometimes, or goes off on tangents. His main symptoms are really the voice weakness, weak swallow, and the dementia. He is as physically able as any of us here right now and has no tremors or limb weakness or anything. It appears, from what I've read, that this is a strange presentation of symptoms. Is this range of symptoms unusual or normal in familial MND? Thank you again for your kindness and advice.
 

Nikki J

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Dementia especially FTD happens with c9 with or without the MND. My mum had the dementia first then had MND and 2 other relatives had some associated Dementia. But one aunt had only MND as do my sister and I. However some people with sporadic MND get dementia as well. Until you get results from his test you are just guessing.
About your dad he has dementia plus voice issues? That would be bulbar onset plus dementia. The limb issues will come with progression unfortunately if the diagnosis is correct. He should not physically overexert himself
 

Kittycat

New member
Joined
Apr 12, 2015
Messages
6
Reason
Loved one DX
Diagnosis
04/2015
Country
UK
State
Antrim
City
Belfast
Thanks Nikki. We've told him to take it easy but unfortunately he insists on going on as normal and he was always a very active man. I suppose part of him believes that if he maintains normal behaviour and activities he won't get worse. Thank you again for all your advice. I really appreciate it.
 

steve67

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My Mother had FTD before the onset of MND and although I have given blood for research,I have not been told if I have that Gene.
Other members of the family who have passed,did not have the FTD
 

Nikki J

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Did they give you the option of knowing Steve? I have given blood for research and they have said whether or not I would be told anything ( almost always not). I have cousins who are looking into a c9 research study in the UK right now and they can choose whether to know their gene status ( but c9 is documented in several family members already which is why they qualify for the study)
 
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