Introduction:
I have been reading the posts on this forum since early 2018.
I guess it is now time for an introduction.
My PALS/wife/Kathy was diagnosed w/ MND in Sept, 2017. This diagnosis was subsequently confirmed as ALS at the Mayo Clinic (FL) in Oct, 2017 and at Johns Hopkins (Dr Rothstein) in Nov, 2017.
In Jan, 2018, Kathy was notified by MC-Jax that she tested positive for the C9ORF72 mutation. This result was separately confirmed at JH. She previously had no known family history of the disease.
We have 4 adult children (ages 35-41), the oldest being an Iraq War veteran (Army) and the youngest is active Air Force. We have 7, soon to be 8, grand children.
Kathy has given permission for her blood samples to be in the CDC ALS registry, the MC database and the Answer ALS project. All 4 children have given blood samples to MC-Jax for research and the oldest has given a spinal fluid specimen for same. Two others plan to give spinal fluid specimens as well.
Kathy has had a fairly steady progression of limb onset and, while she cannot bathe, dress, or ambulate without assistance, she has good breathing, swallowing and voice functionality.
She was recently accepted into the BIIB078 Phase 1 clinical trial at MC-Jax and we will travel there next week for her first treatment. There is a 3/4 chance of getting the drug. As a clinical trial pre-requisite, she was again tested for the C9 mutation and thus was confirmed, yet again.
That's our story. I find this forum extremely helpful as we attempt to navigate and make the best of this disease progression. I hope to give something back in the form of little tidbits of advice/experience not covered by the forum veterans.
Thanks, in advance, for sharing your insight.
Ken