Waiting for a Diagnosis

[kellykago]

My name is Kelly and I am 47 years old. My father passed away from bulbar onset ALS in February 2012, after a 4 month battle.

About a year ago, I began noticing slight slurring of my words. It wasn't all the time, so I dismissed it. About Jan or Feb of 2016 I began noticing that my slurring was more constant and I brought it to the attention of my primary care physician, who ordered an MRI, suspecting MS. My MRI was normal. She sent me to a neurologist who could hear my slurring and ordered EMG/Nerve tests and speech assessment in March 2016, which were normal.

I saw a new neurologist in July 2016. She ordered genetic testing, pulmonary function testing, and speech testing. My genetic testing came back with a variant on my ALS2 gene although they do not believe this to be a significant finding. My pulmonary function was fine, but speech therapist diagnosed mild dysarthria and mild dysphagia. and tongue fasciculation. Recently, I have noticed that I get really short of breath when speaking so she is going to redo my pulmonary function. I redo my EMG/Nerve tests on Sept 26.

My question is, has anyone else experienced such a slow progression? I don't have an official diagnosis since I have only lower motor neuron deficiencies, but I keep telling myself that it can't be ALS since I haven't noticed any other symptoms. I am noticing though, that my speech is getting more "nasaly", as did my speech therapist on my second visit to her.

Although I don't have a diagnosis, she gave me als handouts on speaking and eating strategies. I am preparing myself for the worst, but hoping for the best. My faith in God is strong and no matter what, I know he will hold me in his hand

 

[lgelb]

Hi Kelly,
Sorry for the loss of your dad.
Some PALS have slow progression as you describe, though that would be less usual in bulbar onset.
To what extent did your dad have loss of mobility in addition to the bulbar symptoms? The possibility of a "purer" bulbar syndrome occurs to me.

Best,
Laurie

 

[kellykago]

My dad's started with a feeling of something "stuck" in his throat. That is what initially brought him to the dr. Then slurred speech followed shortly thereafter. He lost total use of his voice by Nov and could no longer eat by mouth by Dec. and had a gastric tube placed. During that time he was still walking and moving about, but had developed fasciculations throughout his body. Into Jan and Feb, he started to use a walker and was more unsteady on his feet, but up to the time he passed away he was a bit mobile. His bulbar symptoms were extremely progressive.

My speech/swallow issues seem to be very slow progressing, with some days really good. I hear it and feel it everyday, but I have family members that will say on some days they cannot hear the slurring. It is much worse when I am tired.

 

[soonerwife]

So sorry to hear about the loss of your father.

My husband has bulbar onset. We first noticed slurred speech in July '14, he was diagnosed in October '15. He didn't know of any other symptoms but the neurologist noticed he was a bit weakness in his ankle area. His neurologist considered his to be slow progression.

I hope they find your issues aren't related to ALS.

 

[Dustiscovel]

Kellykago, your symptoms sound almost exactly like my sister's. She (and we) noticed slurring in her speech in February 2016. It was only slightly pronounced at first and was worse when she was tired. In April, it was markedly worse so she went to the doctor. A CT scan showed no issues and they scheduled her to see a neurologist. Two months later, she finally got an appointment with her (in Houston) and they did a spinal tap, a series of other neurological tests and a nerve test on her tongue but not an EMG. Her tongue has a constant twitch and her speech was worse by then. She left with a diagnosis of MND unspecified and an appointment to come back in for more tests in 3 weeks. Last week she had the EMG and the doctor told her she had twitches all over her body but she still has not diagnosed ALS or mentioned Bulbar. My sister has some congestion issues but they're manageable with Mucinex right now. Otherwise, she's completely healthy and active. She still exercises every day and does everything else she did before the speech issue. The doctor found some abnormalities in her ankle reflex test but my sister doesn't feel any different.

One of our maternal aunts died from ALS about 20 years ago and they told her it wasn't the inherited kind. My sister is convinced it's not ALS and I'm comfortable following her lead though in my heart I'm scared.

 

[kellykago]

yes, this does sound familiar. Some days I think it is ALS and other days I'm convinced it cannot be. My concern lies in speaking with my neurologist and speech pathologist. Even though they have not said that I have ALS, I know they are leaning that way. After telling my speech pathologist that I tire easily with a lot of conversation she told me "you need to conserve your energy for the things you enjoy". My neurologist has taken me off work for a month, at my request, to see if I have any improvement with rest. I have another respiratory function test on the 12th, an EMG/Nerve conduction on the 23th, and then I see the neurologist on the 28th. I am hoping to have more answers at this time.

I have not been exercising because I have been so tired, but now that I am off work, I think I am going to try some Yoga for relaxation

 

[Atsugi]

Kelly, it doesn't sound to me like ALS for a couple of reasons. First, it seems to come and go. Second, fatigue has nothing to do with ALS. Third, lots of us, after our loved one dies, suddenly notice symptoms in ourselves.

The reason ALS doesn't come and go is because of what the disease does. ALS is a brain disease that destroys certain nerves in the brain. Those nerves control our voluntary muscles, like the tongue, hands, and feet. But once a muscle doesn't act--because its nerve is destroyed--it stays down. The nerve in the brain, once destroyed, stays destroyed forever. So the muscles (the tongue) cannot get better the next day, or ever.

Fatigue comes from muscles working hard. In ALS, the muscle does no work, because the nerve is destroyed and can't order the muscle to work. No work=no fatigue.

I think you're looking at something non-fatal.

 

[kellykago]

It doesn't come and go. My speech is always affected. It is just when I am tired, it is harder to control. My speech pathologist explained this to me as, when your muscles get tired, from over exertion, it is harder to control. I can slow down my speech and over articulate, to make my speech issue less noticeable, but there isn't a day that I am not aware of the fact that my tongue is not working right.

I do hope it isn't ALS, also. I may know more this month after my 2nd EMG.

 

[Nuts]

Kelley, I'm so sorry that you are going through this. I sure hope they find another cause. Please keep us posted.
Becky

 

[Kristy84slp]

Im a speech therapist, I work with adults who have difficulties communicating and swallowing for a living as well as my father was recently diagnosed with bulbar ALS. Dysarthria, dysphagia, and respiratory problems seem to be hallmarks of this type of disease. My own father is affected primarily by these issues though his balance is poor and he seems to be generally weaker day by day. I notice a quick progression of my dads symptoms as he his struggling to eat puréed food, thickened liquids and will most likely need a PEG tube soon. His muscles are wasting away, he tries to compensate but has less function every day. I cannot tell whether or not it seems like you have ALS. In addition to nerve testing a videoflouroscopic swallow study (modified barium swallow study) would help figure out physiologically what's going on with your swallow. It will show aspiration/laryngeal penetration; what specific consistencies are getting caught and where. From what I know so far, a good indication of bulbar ALS is if your dysphagia and dysarthria get worse markedly in 1-6 months. We utilize many of the same muscles to chew and swallow our food as we do to articulate (i.e lips cheeks, tongue). A speech therapist can dx dysarthria but there are other etiologies besides ALS that can result in dysarthria and slurred speech.

 

[kellykago]

I had an appt yesterday with my neurologist and she diagnosed me with Possible ALS, given that it only involves one segment of my neuroaxis(whatever that means) I show some deficiencies on my tongue area on the EMG, tongue fasciculations, slurred speech, and difficulty moving hard foods from front of mouth to back of mouth. I now drink soley with a straw to prevent choking on the thin liquids. My dr. feels it is ALS but cannot give a definite als diagnois because all of the criteria for definite are not met. She agrees my progression is slow.

me and my family are still hopeful for a miracle and it doesn't turn into definite als

 

[kellykago]

i mostly have difficulty moving hard foods from the front of my mouth to the back for chewing. Sometimes with crackers or food so that consistency, that get "gummy" seem to stick to the back of my tongue and require me to take a sip of water to move it down. I also occasionally feel like i have mucous that sits at the back of my tongue/throat area that needs to be cleared....

 

[Nikki J]

Kelly I am so terribly sorry to hear this. Will pray for slow progression. Were you given riluzole? Nuedexta? I would want both if I were bulbar.

I hate the El Escorial criteria that are used because they are so confusing. They look at 3 areas - bulbar, upper extremities and lower extremities. If you meet the criteria for ALS in one area it is termed possible ALS, 2 areas are probable, all 3 are definite ALS I wish they called it stage 1,2,3 or something.

Were you offered genetic testing?

Again so sorry. When you are ready come join us in the main forum

 

[soonerwife]

So sorry to hear Kelly! I hope they find that it is something else.

 

[kellykago]

my doctor offered me Riuzole, if I choose to take it. I have not researched it enough to make a decision. I also had genetic testing, since my father passed away from bulbar onset als. I had a variant on my ALS2 gene, but she said it did not play a role in my disease since that gene is present in juvenile als.

how to do join the main forum?