Awaiting DX and answers

[SpeedyMarie]

Hello,

I’m a 45 yo woman, C9orf72 positive, my Father passed with FTD/MND, his brother my Uncle passed shortly after diagnosis of ALS.

I have watched the UPENN FTD Facebook site, their research helped me understand my Dad’s illness. At the time no one knew their was a familial link. When my uncle was diagnosed in 2015 my heart sunk a little. Last fall I saw a post about the clinical studies they are doing. With my family history they accepted me and my sister to the studies.
Oddly last winter the muscle cramps I’ve had worsened. I didn’t thing hard on them. Went through the study. Got invited back next year. This past May the stiffness in my feet started and muscle weakness in my left hand. Then a gait change. I went to my PCP found with motor neuron deficits on my left side. MRI head/neck shows frontal atrophy. Ugh got my advanced directives. It’s been a whirlwind since I finally got into see the neurology consult last week. Exam showed Upper MND, and ataxia. This week had a genetic consult and another set of tests. Back to the neuro EMG’s and nerve conduction tests face, upper left arm and leg. EMG’s okay other than my left hand shows weakness and my left tricep muscle weakness they both look atrophied to me. So the doctor said they are waiting for genetics for diagnosis ?

My eldest daughter is getting married next month and my next set of appointments are the first week of October. So trying to wrap my head around it all. Guess you’ve got to enjoy each day.

 

[lgelb]

Hi, Marie, that is exactly what you do. Enjoy what you have when you have it.

Congratulations on your daughter's forthcoming wedding -- be totally there for every bit.

Best,
Laurie

 

[SpeedyMarie]

Thank you Laurie,

I will try to be present for all that comes a long, life is in the moments

I just looked up the patient portal for my healthcare to see what the results were they have it on lock down. In the documents the print out I wasn’t given docs must be uncomfortable with terminal illnesses. The visit print out has the ALS diagnosis, elevated BMI, and other FTLD diagnosis. ALS I was pretty sure of, being fat and demented gee just throw on the salt...lol at least not symptomatic of that yet. I guess Oct appointments will be the big ones. Better ones in Sept with my daughter’s wedding

 

[Nikki J]

Hi Marie

I am c9 as well.

Do I understand that your emg was not diagnostic?? And if you know you are c9 positive what do you mean about awaiting genetics? The diagnosis should be made by exam and emg and ruling out other things. It sounds like you had the exam findings and something worrisome on emg.

And you were not told you had ftd but saw something on a portal? Have you had neuro psych testing? FTD can not be diagnosed purely on MRI. C9 carriers do have some degree of atrophy on MRI Biomarkers for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Associated With Hexanucleotide Expansion Mutations in C9orf72

I have brain atrophy but do not have FTD ( I have been extensively tested)

Elevated BMI is considered a good thing in the ALS world and correlates with slower progression.

There is a trial for c9 gene blocking therapy. Unfortunately it is small and highly competitive but it is something to try for perhaps. They are currently in cohort 3 and not enrolling but ask at clinic is you are diagnosed about possible sites for cohort 4

 

[SpeedyMarie]

Hi Nikki,

Thanks for the info on the trial. I’ll keep looking into it. Hey future generations may have cures to this mutation and hopefully others

I went to UPENN for the ARTFUL and LEFFTDS studies. My father was diagnosed with BVFTD with MND in 2008 and passed in 2010. 2 years before the C9 mutation was discovered. We thought it was a one off until my Uncle was diagnosed with ALS. By chance I followed the UPENN FTD center on Facebook. Saw a post last year about research and they reached out. I went last spring for the studies and learned that I carry the C9 mutation and my husband and I spoke with the genetic counselor.

I’ve had severe muscle cramping for over a year now. Two months after doing the studies the stiffness, and left sided weakness set in. My gait changed as well. So I went to my PCP he told me I did have motor neuron deficits, he was concerned about a CVA ( stroke) and ordered an MRI of the head and neck. Normal with frontal lobe age related atropy read by the radiologist. My PCP ordered a neurology consult first available 8/23/19. So I went to the neurologist whom did a physical exam I have balance problems and my gait is still off. The neurologist was concerned about the frontal lobe atropy with the family history. I also told him the C9 mutation was present in my family. So he sent me to a geneticist and scheduled the EMG.

So last week my husband and I went to the genetic doctor and I had blood testing repeated. Last Thursday and I had an EMG/Nerve conduction if face/ left arm/ left leg. The only places not uncomfortable during the testing was the areas with denervation. Left hand and left tricep. What my neurologist told me we will wait for the genetics and see if something else but I have upper motor neuron disease and those two lower areas. So an appointment is set for Oct 4th. After the original post here I went on my patient portal and it’s locked down. The documents tab had the post visit paper work with the diagnosis of ALS, BMI 30-34, and other frontotempral lobe dementia.

Ok I know I have ALS I’m chubby, losing weight though anyways. I disagree about the FTD diagnosis with the knowledge most likely it will happen but it’s not happening now. I have intact executive function and insight. I also still have compassion and a lot of emotions. He diagnosed it without the neuropsychological testing which is not best practice. I’m a nurse to boot so I’ll have the retire because if that diagnosis too ugh

I know the Inevitable but ALS is not the end of my life, I have a lot more living to do

 

[Nikki J]

Good for you for your attitude. Do you have plans to see an ALS specialist? I am not questioning your diagnosis but a neuromuscular opinion is important and honestly I have concerns about your being given an ftd diagnosis so cavalierly.

There has been research that a bmi close to 31 correlates with slower progression

 

[lgelb]

The FTD was probably coded based on family hx rather than your own test results/presentation, so I agree that is over the top and would ignore it. If you want to/are able to keep working for a while and that interferes, you can have it removed from future documentation in favor of actual neuropsych test results.

 

[SpeedyMarie]

Thanks Nikki and Igelb. I have intact executive function currently. I will ask for the neuropsych testing great idea. I am seeing my PCP next week to help figure this out. I hurt myself doing basic patient care turning someone now my left shoulder dropped hoping it’s just muscle fatigue. It’s a fun dance for the newly diagnosed