It was Thanksgiving 3 years ago when we found out Cathy's diagnosis... & it is Thanksgiving time again this year that we have found out the results of Cathy's autopsy (neuropathologic examination).
The findings indicate that she suffered from a rare disorder:
"Frontotemporal Lobar Degeneration with Motor Neuron Disease (FTLD-MND)".
There was NO evidence of Pick's Disease.
Other terms for this condition include FTLD with inclusions, tau and synuclein-negative, ubiguinated (ITSNU) - often abbreviated FTLD with ITSNU; FTLD with ubiquitin-positive inclusions - often abbreviated FTLD-U; and motor neuron disease inclusion dementia - often abbreviated MNDID. Motor neuron disease is another name for amyotrophic lateral sclerosis (ALS), otherwise known as Lou Gehrig's disease. The important discovery over the past few years was the identification of TAR DNA-binding protein - number 43 (TDP-43) as the major protein that is dysfunctional in ALS as well as FTLD-U. This protein was the major dysfunctional protein in Cathy as well. There was no evidence of tau or amyloid or synuclein protein dysfunction.
There was/is no treatment for this illness. And it is an agressive form of the disease.
Sadly Cathy's father passed away from probable ALS (no autopsy was performed) and her Paternal Grandmother had Dementia. This suggests that a genetic mutation caused both or all of these illnesses, yet at this time they are unable to identify the cause. Research is ongoing...
I am Thankful we have the results.
I am Scared of the results.
I am not sure I can put my finger on all of my emotions at this point.
Most articles I have read put Cathy's children & siblings in a 50% risk group if this is familial. And that would put my children in a 50% risk group if their Father (my husband, Cathy's son) has it as well.
I cannot imagine going through this again.
I am still emotionally drained at times thinking of what we went through with Cathy.
But...
I am looking at this as a gift from Cathy.
We have a chance to prepare & stay 'in the know'.
We have a chance to live our lives for the moment.
Celebrate every day.
And PRAY for a treatment & a cure. For my husband, my children, & our family.
