Sister suspected ALS

[Carmelite]

My sister has been told by her neurologist and ENT that they suspect bulbar-onset ALS. I am so devastated but she is denying the possibility and does not want to even investigate what the disease is. She goes for an EMG next month. She has already had an MRI and they ruled out stroke, which is what we thought she had. Her ENT said her vocal cords have atrophy and it is neurological. She pretty much blew off the statement.

In the meantime, I am researching this disease. I will be one of her CALs if this is what we are dealing with. I understand it is progressive. She has a speech therapist but says the exercises might be making her speech worse. She lives one block from me and we are very close. Her speech is slurred and swallowing are affected so far. Her feet are purple. My brothers and I are so dismayed and alarmed. She is also a diabetic.

Anybody out there with bulbar onset and advice on how I can be supportive in the process of coming to grips with this reality? We do not talk about or say ALS but I have all the literature from the ALS foundation. This is so horrible. My prayers for all affected by this disease. Thanks.

 

[lgelb]

I'm very sorry to hear this news. There are still other possibilities, such as myopathies (diseases of the muscles instead of the nerves; were her CK levels checked?) as well as varied genetic disorders, and of course you will know more after the EMG.

The purple feet don't necessarily relate to the bulbar issues. Diabetes/vascular disease are associated with reduced circulation in the feet. I would make sure her diabetes is being monitored/managed and that someone in primary care has examined the feet.

If the speech exercises are tiring and unproductive, the therapist should be discontinuing them, anyway, but your sister certainly can.

If it is ALS or any of the more likely possibilities, there is no point in speech therapy (that can accelerate progression) apart from safe swallowing tips.

Instead, when she is ready but preferably soon, if she wants to use a voice that sounds something like her, she can look into voice banking, starting with the shortest process, which is creating a Personal Voice on her iOS device to use in the future or using the (paid) Acapela MyVoice program, which is also pretty simple. You can find other programs on line. The Gleason Foundation often provides financial support for these. If she chooses not to do this, there are plenty of available voices that sound pretty natural, and apps to use them with.

You might also begin looking into interventional radiology programs near her that place feeding tubes. The best ones are not always associated with the same hospitals that the ALS clinics are in. Preventing malnutrition while avoiding choking is really important in any scenario, so meanwhile a "safer" diet that avoids skins, kernels, seeds, etc. may be advised. Almost anything cooked can be blended at high speed with anything else cooked, canned, or bottled. Easy snacks/ingredients often include eggs, puddings, applesauce, juice, ice cream, fruit cups, mashed potatoes, etc.

It is only natural to stay in denial until you can't, for many people. If your fears are confirmed, you will be in a good position to help your sister process the news. Until then, you can let her know that you will support her, whatever comes.

 

[Carmelite]

Thank you for an along the time to respond. I appreciate it.