Just wondering.....

[scotslassie]

Hello everyone. I joined this forum a few months ago as my aunt had als (bulbar onset) and I found it to be a great source of reliable information. I'm now on to ask for your opinion on something. My aunt was diagnosed at the age of 68 in May last year, sadly she passed away in February of this year. She had a sister who passed away 15 years ago from bowel cancer. This sister had been diagnosed with Myotonic Dystrophy almost 10 years before her death, she also had learning difficulties. We (the family) were talking about this sister and started wondering if in fact she had MND. She had foot drop and walked with an aid until she had to use a wheelchair, her upper body was very weak - no strength in her arms, she had very little energy and wanted to sleep most of the time. She was still able to write and draw but we saw she was gradually becoming weaker. She was diagnosed with bowel cancer and sadly died just a few months later. There was also a brother, my uncle, who suffered from mild muscle weakness and learning difficulties but unfortunately died in an accident when he was 40 before he could be diagnosed. Now my mum (88) has informed us that she had an aunt who was unable to walk or talk and who died quite young but no-one knew what was wrong with her. It's maybe just co-incidence that Myotonic Dystrophy is in our family, yet my aunt was diagnosed with MND. I am wondering if they are linked somehow or even if there was a mis-diagnosis 25 years ago. None of the family have gone down the route of genetic testing. What do you think? I dont want to G o O g lE anything - I know where that leads! Thank you.

 

[notme]

We can't really answer that--ALS is sporadic 90% of the time. I'd assume the condition your aunt had was diagnosed via testing. If you're concerned, Id' suggest speaking with your GP.

ALS doesn't cause anything with learning abilities--so not sure where you thought that might be connected. MND isn't a muscle disease--it's a nerve disease that kills the muscles due to lack of 'connection' to control them. Not sure about the disease your aunt had.

One family member with ALS, though, does not make you more likely to get it unless it's the genetic form---which only a genetic test would tell you. Good luck

 

[tmasters]

Misdiagnosis occurs occasionally even today. It would not surprise me that somebody was diagnosed with a muscle disease 25 years ago when she actually had ALS. It depends on what tests they ran and the experience of the diagnostician. Did they do a muscle biopsy? EMG? etc.

Genetic testing is expensive. And only about 66% of the genes that cause Familial ALS have been identified, so genetic testing can result in false negatives.

-Tom

 

[scotslassie]

Thank you very much notme and tmasters for your responses. We (my family and I) have discussed this further, at length and sometimes at considerable volume, and decided that nothing will be gained by analysing things we know very little about. We could go down the route of involving doctors, neurologists and medical records going back 25+ years but where would that lead us? The learning difficulties issues point very strongly towards Myotonic Dystrophy with our earlier family members but my aunt, who was diagnosed with bulbar onset als, had no such problems. We have accepted (eventually - and not all with good grace), that our family has been touched by both these diseases and they may visit us again in the future. A co-incidence. At the moment we are all in good health and are very grateful for that. None of us have any control over what may happen in the future. The neurologists who dealt with my aunt (diagnosed als) are aware of the family history and are very interested in it and, although they have said they don't "think" there is any link between the two conditions , they cannot rule out or confirm a mis-diagnosis 25 years ago. I guess we will never know. I think we had a collective panic attack! Thank you for taking the time to read and respond to my post.