[Meredith Reekers]

@Dustin

if you are in the US, go here to start:

https://braindonorproject.org/who-we-are/

this is the NIH funded brain bank and how research sites get valuable tissue like yours. My mom and I are both registered, and upon our deaths, our tissue will go to the University of Miami. They are a member research site who needs the tissue and the closest to us geographically. The UofM staff (or whichever university research site is closest to you) can explain which local funeral homes and mortuaries they work with.

I hope this helps,
Meredith

[Meredith Reekers]

Hi Janice,

I’m so sorry to hear that. But if you can, I would get tested for the c9orf72 error. It also causes frontal temporal dementia and sometimes mixed ALS and frontal temporal dementia. Dementia is poorly understood and people get wrongly categorized as Alzheimer’s all the time.

I encourage you to get tested because gene therapy is almost upon us and what has been accomplished in other genetic diseases (see the December 2020 episode of 60 minutes about Sickle Cell Anemia remission with gene therapy administered at NIH).

I hope this finds you having a good day,

Meredith

[Meredith Reekers]

Hi Leslie,

I’ve heard great things about the ALS clinic at Colombia and their genetic counselor. I’m sure you’re probably already aware of the main known genetic errors that cause ALS (c9orf72 and SOD1) but they will explain them in depth at your appointment. If you need peer support from those of us who are carriers, please direct message me.

thanks and I hope all goes well,
Meredith

[Meredith Reekers]

Hi Lisa,

Just my two cents  (I’m pre-fALS and worry about cramping a lot), you might want to look at the possibility of an electrolyte imbalance. My neuro suggested that when I complained about a recurring Charley horse in my right calf. Supplementing electrolytes relieved it.

I hope you feel better soon,

Meredith

[Meredith Reekers]

I agree David. My family history is similar to yours with c9orf72 ALS/FTD.

I’m about to send in my sample for testing. The only hesitation is potential discrimination by non-healthcare insurers (e.g. life insurance, long term care insurance etc). But in case y’all don’t know, the Genetic
Information
Nondiscrimination
Act
of
2008
(GINA)
is
a
federal
law
that
protects
 individuals
from
genetic
discrimination
in
health
insurance
and
employment. I am, for one, paying for my genetic test out of pocket because I don’t want my insurance company involved.

-Meredith