Now it’s real

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stellfox

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PALS
Diagnosis
05/2021
Country
US
State
MA
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townsend
After being a member of this forum for some time as a family member of SOD1 family with the loss of my dad, brother and sister all within 4 years about 12 years ago - as well as being tested positive for the SOD1 - A4V gene 10 years ago and a patient in the Miami trials for about 8 years - my time has come to join the others in this one way path. It’s a devastating thought as I am sooo well aware what the path entails- the damage again to our families physiological health is once again rearing it’s ugly head ! My kids hope there is some kind of hope in new therapies but being a veteran of the system makes me more realistic. I wish I was more unaware of the days and months to come.

My broken ankle in January was the catalyst and for a few weeks all seemed well but progressive weakness in the quadricep made the surgeon send me for EMG and the neurologist ( a horrible doctor) said to me at conclusion “it’s all over “ which honestly I took as 2 meanings - 1 being - you’re done for and 2 being it is everywhere - not a great bedside manner and the left the room - - so the last walk is beginning and the course will be short as all 3 of my family members were gone in 10 months - glad to have this forum for venting as it is painful for family
 
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Nikki J

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Country
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I am sorry. Where are you being seen and have they talked to you about tofersen expanded access? It supposedly will be available to fast progressing PALS mid July. Fast progression is defined greater than 2 frs points per month. Can you hang on for 2 months?
 

stellfox

New member
Joined
Aug 25, 2009
Messages
9
Reason
PALS
Diagnosis
05/2021
Country
US
State
MA
City
townsend
I am seeing Dr Benetar in Miami in about a week and they are working to get me into the Biogen Toferson or the new trial of Dr Browns in Worcester - dependent on progression of symptoms as to if it will be of significant help still hopeful but guarded on the quality of life issues - if just being a test subject is the outcome that should be enough - I just don’t see all that much benefit to me in all the clinic visits as in my previous experience they were not helpful for my Dad or siblings
 

Nikki J

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Mar 22, 2012
Messages
10,697
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
City
Boston
Oh good that you are getting Benatar to advocate. The trial with Dr Brown has only 2 patients that were dosed for proof of concept. It does look hopeful. I know people who were in the tofersen trial and fast progressing and it really seemed to help slow or even stop so I really hope you can get one soon.

Being a patient wherever you get the trial probably make sense and you could minimize the stress by combining study visits and clinical visits. I know someone who travels out of state to mgh for a trial and their neuro sees them while they are there.
please let us know what treatment you end up with
 

affected

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Joined
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13,487
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Lost a loved one
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lala land
so sorry to welcome you here, I can't imagine how you are feeling.
 

lgelb

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I'm very sorry to hear this news, Stell. We'll support however we can.

Best,
Laurie
 

SusieN

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Messages
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Lost a loved one
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00/0000
Country
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MI
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Traverse City
I'm very sorry to hear this. I also am awaiting symptoms having been genetically tested. My family carries the C9orf72 gene mutations. Lost my grandmother is 1993, my mother is 2008, and my sister in 2018. I am also praying for my two daughters, and am very thankful for this forum for information and support. Stay strong!!
 
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