Friday, November 18, 2011

Pre-Senilin 1

Mike and his family suffer from Familial Alzheimer's Disease and have been tested and proven to have the PS1 gene mutation. Scientifically, this has been written about this particular mutation:

The available clinical information suggests features broadly typical of Alzheimer's disease. Myoclonus was a particularly marked feature in the individuals on whom we have more detailed medical information. As with other chromosome 14-linked or PSEN1 mutation familial Alzheimer's disease pedigrees (Frommelt et al., 1991; Haltia et al., 1994; Lampe et al., 1994; Kennedy et al., 1995), the majority of the cases experienced seizures. As in two families with PSEN1 M139V mutations, myoclonus and seizures were a feature common to all affected individuals, with the myoclonus starting, on average, 3 years before the seizures (Fox et al., 1997). This appears to be a feature of younger onset familial Alzheimer's disease (Mayeux et al., 1985). - Professor M. N. Rossor, Dementia Research Group, Institute of Neurology, Queen Square, London WC1N 3BG, UK
In layman's terms I will's HORRIFIC!
I attended our local candle lighting ceremony last night to commemorate those who are currently suffering from the disease, those who have already passed and those who are caring for them. I sat next to a lovely woman who described how she is just beginning this journey with
her mom. It's funny how I forget about all the things Mike used to do in the beginning of this disease. I guess as a defense mechanism, my mind only has room to deal with the here and now, and not hold on to all that has happened over the course of the last 10 years. We proceeded to discuss the issue of awareness and research - a hot topic for me. I have always felt and WILL always feel that the money is not allocated for research because people consider this an "old person's disease". Why waste time and money when their life expectancy is so short anyway.
The PS1 mutation proves something completely different. This is the mutation apparent in many Young Onset Alzheimer's patients. The mean age of onset is in the 30's, studies have proven it and Mike is living it. So where did this mutation begin?
Mike's mom was the first person in her family to develop Young Onset Alzheimer's Disease (YOAD). Her parents passed away from other illnesses, her mom died after her. Her great grandparents did not have any indication of this disease. So how did she develop it?
Through my networking, I began talking with a spouse who's wife was diagnosed at age 39, also with the PS1 mutation. HER parents are currently helping in her care. How did she develop this mutation?
I'm sure there are numerous cases like these out there, and I present the question about how and when they developed YOAD for one reason.... If you don't think this disease can't happen to you because your not old, or you don't have it in your family, think again! Neither one of those scenarios applied to them, yet here we are.
Are you scared, you should be. NO ONE IS SAFE. This disease does not discriminate and we need to make sure our loved ones do not suffer in vain. The mutations came out of no where in two otherwise healthy woman. Between the two families, there are 5 children who now have a 50/50 chance of inheriting the gene that causes the disease. This pattern will continue until money is made available so that research can be done and a cure can be found.
Not long ago I read The Thousand Mile Stare written by Gary Reiswig. His family has been torn apart by the number of members who have developed YOAD over the years and eventually passed away from the disease. Their courage and strength is amazing as they participate in research, even those currently not diagnosed, in the hope of ending this unpredictable ride that is Alzheimer's Disease.
I've said it many times and I will repeat it again, THERE BUT FOR THE GRACE OF GOD GO I.
All I ask is that you use this forum and my words to help make your friends, neighbors, co-workers and family members aware of YOAD. The more people who are aware, the more chance we have of raising our voices and making a difference. Yes, there are many horrible diseases out there, but this one is at the top of the list. I am saying this with complete confidence, even after I sat with my FIL as he suffered and eventually passed from stomach/esophagus/pancreatic/liver cancer and a dear friend who recently passed from ALS.
Memories are the essence of our being and our ability to communicate is one of our basic needs. Alzheimer's rips both of these away from our loved ones leaving only a shell.

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