Newish confirmed Bulbar ALS with positive C9

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New member
Nov 12, 2020
I am 47 not married and no kids. I do have positive C9 and my dad died 5 years ago after a long battle with Dementia and he had lost the ability to speak at the end and was in a wheelchair. He was 73.

Long story as all ALS diagnosis is. First symptoms started September 2019 with slurred speech (I was told often that I sound drunk) fast forward with no changes till January 2020 when I started getting winded on stairs and my speech started getting steadily worse and I started having beginning swallowing issues. I also started suffering from PBA.

By the time it started really effecting my work in March COVID was crippling Seattle healthcare and I couldn’t get into see a neurologist until May 2020. Had negative EMG test only in right leg and right arm and was told that test ruled out “the scary Diagnosis” then had a spine and brain MRI to rule out MS which it did and I was awaiting my swallow study when my original Neurologist left the practice and I hadn’t followed up with him because I hadn’t had my swallow study. I got a recommendation to see a Neurologist in the hospital I worked in(they had since reopened) and I saw her in June 13, June 14 I put my notice in because my job was switching my work location to much longer and harder commute from 45 minutes each way to 2 plus hours and a mile walk each way. I was working in a Home Medical equipment company setting patients up on CPAP/BiPAP machines and Oxygen so I was familiar with ALS patients in a treatment setting.

From the exam in May till the one in June my deltoids weakened and the notes she got from my previous Dr. that said Motor Neuron disease that I hadn’t been notified of prior to that appointment. My new/current Dr. diagnosed probable ALS and did more blood tests for Mysthenia Gravis, the C9 genetic test and lots more basics. I had an appointment with the speech therapist, the swallow study and found out at my F/u on July 1st I had confirmed ALS C9 positive. She she checked my Pulmonary Function and it 60% she recommended an EMST device and I use it religiously and my PFT score has gone up to 67%! I

am scheduled for PEG tube next month and I have a central line for Radica infusion because I’ve got tiny veins and the PICC line I had first leaked plasma continuously for the 2 weeks I had it.

I’m hardly eating so the PEG tube is welcome I’m starting to have trouble walking and use a walker when outside but not inside my movement in general has slowed down my walk is very slowed and blocky I sometimes can’t count on my back leg to move when walking. I don’t necessarily foot drop just not raise. Or raise a little and shake not move forward. I often catch rugs and flip the edges up(I need them though I have hard concrete floors and fall enough that I need the padding)

I am taking Riluzole, Nuedexta and Radicava and get Botox injections for my jaw and to help my swallowing and I use the EMST I’m doing an informational study on Radicava for NEALS. I’m awaiting disability to kick and hardly leave the house other than Dr. appointments and occasional trips to get meds refilled and to get groceries I don’t drive I’m used to riding the bus and used to walk so fast. The slowness and planning for further changes is bothering me more then lack of useful speech. I’m truly grateful for the great ALS care I’m getting. And my supportive friends and family.
I am sorry that you have to join us. I look forward to getting to know you. It sounds as if you are doing all the right things and are handling this as well as a person can.

as you probably know there are some c9 specific trials coming next year as well as a progress report on the biogen aso. We are hoping for a bigger trial phase rather than another cohort. In the meantime have you looked into metformin? It is in trial in Florida because in the lab it reduced the C9 RAN protein and my clinic is prescribing it off label for C9. If you are not diabetic it doesn’t seem to affect your blood sugar
Thank you Nikki. I am kinda kicking myself for not trying Metformin years ago for PECOS. I don’t think I have PECOS I just had more muscles then the average 5 foot woman. I *used* to build muscle super easily. And Dr’s sometimes only see weight and BMI. On the other hand it’s quite refreshing that my goal now is not to lose weight!
I’ll be doing the informational study on Radicava through March and I’m free to try any new ones after it ends. My Dr. was very clear in making sure I knee I was locking myself out of other studies. I am all about helping future patients and the info study is how I thought I could help.
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