Mother with possible ALS

[Laura2121]

Good morning,
I have been taking care of my 75 year old mother daily since a fall in August of this year when she fell and broke her right leg and foot. This was her second serious fall in the past two years. 11 months before this fall she fell face first onto the bathroom floor causing a serious concussion and other facial injuries that took months to heal.

My grandmother, her mother, was diagnosed and died of ALS in her early eighties. My mother is experiencing drop foot on her right foot and her right hand does not seem normal when she puts both hands out flat palm down in front of her. Now that the bones are mostly healed she is not in pain. She works hard to do exercises everyday the PT folks gave her to recover from the broken leg/foot. She has severe fatigue which seems to be slowing worsening. She has trouble walking - especially when she first gets up to move. The falling also continues to happen intermittently.

I've also noticed slow cognitive changes. She seems to be withdrawing. She has a history of asthma and allergies, but in the past two years her breathing has steadily worsened. Recently I've noticed more throat clearing and some coughing episodes that she describes as swallowing wrong. Her legs and arms seem to be wasting away slowly. She had noticeable weight loss in the past two years. The good news is her speech is normal - no slurring speech. My grandmother did not have slurred speech until the last 6-8 months of her life.

She and I have talked about the possibility of ALS, which is hard to discuss as my Mom and her sisters cared for her mother for the last several months of her life (from DX to death about 6months). My mother and aunts shielded the rest of the family (at my grandmother's request) at the end stage. Our visits were limited in time and very much on my grandmother's terms, not in a negative way.

I have found a recommended neurologist for my mother and she is planning to get tested after the holidays. I've read the information posts prior to sending this post and they were very helpful. I am praying that this might be one of the other many diagnoses possible. I wanted to thank you for the helpful information in your forum. My hope is to continue to gently encourage the use of a cane or walker so she does not have another serious fall. If you have any thoughts or suggestions, I would greatly appreciate your input. Thank you, Laura

 

[Nikki J]

I am sorry about your mother. Her symptoms as you say are worrying and she should get checked out. If she does not have an appointment she should make one. There is generally a wait to be seen so if she calls now the first appointment available likely will be after the holidays often even when you don’t need a referral for insurance a specialist may want one so they know the person has been evaluated and really needs to be seen so she might need a pcp first. A neuromuscular physician at an academic medical center would be the best person but that may take some prior visits

avoiding falls is key. If she will accept a walker/ rollator that is the way to go

maintaining weight and avoiding choking are also important. If she can manage high calorie smoothies may help. A search of this site should give you some ideas.

this is very old for FALS but I suppose if it is it is very late onset less penetrant in your family

 

[Laura2121]

Thanks Nikki. The high calorie smoothie is a great idea. I had not read any info regarding age of onset of FALS - so your comment on that is very helpful as well. I remember that since my grandmother's onset was so late in life and because they were not aware of other cases in the family that it was unlikely FALS. My mother and aunts chose not to autopsy or do any genetic testing. I am just having a hard time noticing things that may be symptoms. At first I thought the cognitive issues may be pointing to dementia, then I read about frontotemporal dementia, which seems to be more like what she has going on. On both falls she did not try to break her fall with her hands, knees or other. I need to think more about the statistics, which means significantly less probable. And I will rely on the experts for diagnosis. I am sure that it is draining for you and others to deal with these types of posts. I am so very grateful for your comments above. Best wishes for the holiday season.

 

[Nikki J]

Please work on getting her seen. Of course only the doctors can diagnosis this. I do encourage you to encourage her to pursue this

re FALS my mutation C9orf72 is the most common in European ancestry populations. median age of onset is late 50s and earliest onset is generally mid 30s. However full penetrance is by 84 so though very unusual not impossible for your family. The ftd als combination is more common in C9

 

[lgelb]

Sorry to hear about your mom but glad she has you to help, whatever she has. As Nikki says, avoiding more falls and maintaining a high-side healthy weight is very important. Blending ingredients like eggs, nut butters, juices, bananas, yogurt, puddings, applesauce, etc. can be helpful. A large bore straw can help her get more in one go, just not too fast.

As entrees, cooked vegetables, soft rolls w/ butter or oil, and tender meats while avoiding kernels, hard skins, fibers, and seeds are some thoughts.

Best,
Laurie