Penny for YOUR thoughts

Today is November 21^st, 2016.

Today my mom, Mary, would have been 65.

She would have been married to Dad for 38 years

She would have 7 grandchildren. 

She probably would still be rocking a perm hair do and wearing ugly Christmas sweaters (but not as a joke, but because she actually liked them…)

She would have my dad in the dog house right now--for buying yet another car (that doesn’t run,) for yet another project that he won’t get to anytime ever….

 

Instead, she passed away at only 61.

Instead, she was married for 34 years, 11 months and 2 weeks.

Instead, she met only 4 of the grandchildren.

Instead, she lost her ability to read, write and speak, beginning at the age of 56.  She went from being a nurse to having 24-hour care in just a few years.  Eventually she became wheelchair bound and then bedridden.  She lost her ability to eat and swallow and our family had to make the decision to let her go….

On March 13^th, 2013, Mom died from the conditions of Dementia.  Frontotemporal Dementia (FTD). 

 ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

Confession:  When I opened my tablet to write this post for Mom's Birthday, I was in conflict.  I wanted to outpour how much I miss her and all the awesome things about her.  It's so easy to talk on the positive attributes and make someone a saint after they've passed.  But what's important is not to remember her as a saint; but to remember her as a human.  As an imperfect mother of 5 with flaws and mediocre cooking skills (sorry mom, you made a great lasagna but let's not embellish).  And she certainly was not attention seeking.  Mom never wore more than basic blush and lipstick.  Mom dressed simply and sought satisfaction in life through actions and putting others first.  If she was alive today, she would have already assessed which of her adult children needed her the most for Thanksgiving preparations (all 5 of us now live in different states- PA, VA, MD, CA, and AZ) and she would already be there, tending to the grandchildren, making pies and just knowing what needed to be done to lessen the stress-- but none of it would not occur without some tension and arguments-- that's family, that's human nature. 

Helping and loving was easy for Mom, it was the only way she knew.   

“Deeds not words shall speak me.”  -- her mantra  in her high school yearbook and defined how she lived.

And so, this year, instead of listing off everything that was amazing about her, let’s take her lead and give forward.  It’s time to start fighting again.  Time to plan another benefit for a cure for dementia/for FTD.  If you’ve followed this blog, you know this will be the third fundraiser.  You will also know the basics of “frontotemporal dementia” (FTD).  For those that are new, FTD is a dementia that strikes most between ages 40 and 60.  My family has the genetic form (linked to protein TDP43) and each of us risk (50%) having already been born with it and are now just biding our time and praying for the best.   

So, Mom, for your 65th birthday, we are going to keep fighting for your family, for your grandchildren, for the thousands and millions of others that have been impacted by dementia.   

To kick off this year’s planning here’s a (1) few quick facts for those new to this blog, (2) a quick list of help we’ll be seeking in the future, (3) and for today - a survey monkey (2 minutes of your time) that I’m hoping you all will fill out to help us plan the event.

 Quick Facts:

·       Did you know that dementia takes more lives than breast cancer and prostate cancer combined?  (not knocking on either of those, just noting the statistic)

·       Did you know that dementia (including Alzheimer’s) will cost the nation over $230 BILLION by the end of 2016?

·       Did you know FTD represents an estimated 10%-20% of all dementia cases. It is recognized as one of the most common presenile dementias (meaning it occurs in a younger population).

·       And finally, on a personal level:  Do you know anyone that has had dementia?  Alzheimer’s? ALS?  Parkinson’s?  FTD?

Some of you knew my mom well.  Some of you may have never known her, but you answered yes to knowing someone with dementia.  This disease impacts nearly everyone. Wouldn’t you want to help/honor your loved one too?

Over the next few months, my family and I will be looking for

·       Businesses to sponsor the event

·       Items/baskets to raffle off (to give you an idea, last event we raffled NFL, NHL and MLB tickets, kayaking trips, beer, wine, jewelry, lottery tickets, kids toys, gifts cards, etc.….A full list of ideas and suggestions will be posted soon)

·       Event planning/Preparation support

·       PR help – help us get the word out please

·       Event volunteers

But for today: 

SURVEY MONKEY…TWO MINUTES of your time to answer the 10 survey monkey questions.  The intent of the survey is to understand what you would like to see at a Dementia Benefit.  This year, it will be hosted in California but we’ll be doing other fundraising (like lottery tickets and sponsorships) leading up to the event, so if you’re remote, you can still help!!

The link to the survey is at the BOTTOM of this post.

To learn more about where the proceeds go, I’ll refer you to the last post that explains who Bluefield Project is, and what benefits have already occurred thanks to your support and fundraising. 

Click on “The Positive Impacts of Your Donations Explained.” 

In closing,
To all of you:  Thank you for reading and thank you for your responses in the survey (link below).

And Mom – to you, this is a promise to not forget and to not give up….

Even if you’ve forgotten my name,

Or the nickname I always called you.

Even if you’ve forgotten you loved me,

I will just remember for two. 

I know you don’t know who I am,

When I bend to give you a kiss.

You might not shed a tear,

For the things that you will miss.

But I will miss every moment,

All the th8ings we planned to do.

And I promise with all my heart, Mom,

I will always remember you.

(written by Virginia Pasqurelli)

Happy Birthday, Mom.  We all miss you. 

November 21^st 1951 –  March 13^th 2013

Mary Margaret Hall

Beloved Mother and Wife

SURVEY MONKEY:

SAN DIEGO EVENT - click here -- https://www.surveymonkey.com/r/FC8YNLY

PENNSYLVANIA EVENT - click here -- https://www.surveymonkey.com/r/SPHN5VX

The Positive Impacts of Your Donations Explained

(Thank you, Laura Mitic and the Bluefield Project for all you do and providing feedback so we can share with the world the great things you are doing).

Post overview.  -

1. Analogy to add perspective to what frontotemporal dementia (FTD) is
2. Summary of what your previous donations have gone towards and the benefits so far
3. Details and explanation of hope for a cure/prevention

1. FTD Perspective

To the audience:

If this were in person, I would ask you to close your eyes as I take you on a journey.  

In lieu, I’ll simply ask you to read on with an open heart:

I'd like you to imagine yourself being relocated to a remote Chinese village.  Somewhere where you do not speak the language nor can you read or understand it. 
You've been sent there alone, and not by choice.
Now imagine, you've been told you will be there for the remaining days of your life.

At first it would be a struggle, but you, think, "I'll be resourceful and adapt: body language, photos, and just plain pointing goes a long way."

Now imagine, despite immersion into the culture and language, your comprehension declines the longer you are there instead of improving.

You look at a menu or any written instruction and it becomes more and more foreign to you every day.

Your intelligence is still intact.  You are aware of what is happening.  But you are alone in this foreign village where you cannot grasp what people are saying, you cannot read the written language, you cannot write it; even if you are looking right at it, your brain cannot tell your hand how to replicate it.  Before you know it, your writing is that of a child's.

The world is hustling and bustling around you, but you can’t keep up. 

Your ability to speak, slowly, deteriorates as well; until after a few years in the village, you have lost your voice altogether. 

And then, comes the physical decline.   Incontinence, walking and balance declines, muscles stiffen as they begin to atrophy.  Eating, now a challenge; swallowing is no longer instinctual….

In 2008, my mom, at the age of 56 was sent to a foreign village.  My grandmother quickly followed.

That village is called frontemporal dementia (FTD).  For some, no one knows why they get sent there.  In my family's case, we have one of the familial forms of FTD, the genetic mutation-- FTD-GRN.

In a nutshell, “FTD-GRN is a rare, early-onset and rapidly progressive neurodegenerative brain disorder that can affect behavior, cognition, language and motor skills, due to a reduction in the progranulin protein”...it is fatal.  (FORUM Pharmaceuticals Press release, Oct 2014).  For anyone in the family that was passed the gene, now live with the 50% risk of passing it on to our children. 

Three years ago, on March 13, 2013, after five years of FTD entrapment, Mom took her final breath and let go.  She was only 61. She lives on through her husband of 35 years, 5 children and a growing number of grandchildren (almost 7!)

For the past three years, all of you have helped raise over $15k, in memory of my mom, Mary Hall.

All proceeds have gone to the Bluefieldproject based out of UCSF (and collaborates with other researchers across the U.S., Canada and Europe). 

But what has been the benefit to your donations to date?  Below explains what your generosity has impacted.

 

But first and foremost:

~~~~Thank you~~~~~

~~~~~~~~~~~~~~~~You have made all the difference~~~~~~~~~~~~~~~

The skinny: 

Because of all of you, there is progress and hope.  Your donations accelerated the preliminary research which secured a larger grant for clinical trials!!  On people, not rats. Real clinical trials!  I repeat:  Clinical trials for FTD with GRN Mutation, have been funded!!!

Read on to learn more on:

• Details on how the trial came to be
• What the trial will entail
• Details on how you find out about other clinical trials occurring and more info FTD in general.

While we still have a long way to go, thanks to all of you, we are on our way.  If there is any silver lining to having a genetic mutation that causes dementia in the prime of one's life, rapidly declines and is deemed fatal ... FTD-GRN is the "low hanging fruit" and your donations have given my family and the other 100s of thousands caregivers and affected TANGIBLE HOPE.  We still have a long road ahead of us.  Trials can take years, if not decades.  But this is a huge step in the right direction

Mom would be proud and humbled, as we are as well.

With Love,

~The Hall Family~

2007 - Just a year before diagnosis, Mom, Dad and Heidi celebrate Tina graduating.

The Details:

As we all know, the research and medical world is not cheap.  On a shoestring budget, devoted doctors (Howie Rosen, MD at UCSF and Brad Boeve at Mayo Rochester) have been collecting research data, mostly in the evenings and weekends, for 10-15 years.  

Drs. Rosen and Boeve have collected research data on several hundred subjects (patients and unaffected relatives participating in research programs) from families with known FTD mutations. These research data included extensive clinical assessments, structural and functional brain imaging, and blood and CSF samples. In many cases, these data were collected prospectively, before we knew gene mutations caused FTD, with the expectation that they could be used in exploratory studies. As our understanding of the genetics of FTD increased and patients were genotyped, this became possible. Drs Rosen and Boeve aimed to mine these data to better understand changes that occur with familial FTD over time - and indeed they were doing so, on a shoestring budget, at night and on the weekends, but it was slow going.  They needed help organizing and parsing their data.  

Your donations went to support two research assistants (one at each center) to collate and analyze the data, thereby accelerating the completion of the analysis. Their completed analyses were included in an NIH grant application that proposed studying changes in familial FTD patients over time with additional (in some cases, newer) techniques. This kind of longitudinal study is key for estimating rates of change across clinical stages.  In turn, knowing rates of change across clinical stages is key for understanding whether drugs are efficacious in slowing or reversing disease. So this is a very important study, but it's difficult to get funded because one needs to demonstrate

1) an existing infrastructure and the ability to collect these kind of data and

2) preliminary data that look interesting enough to convince others that limited federal research dollars should be spent here.

In fact, Drs Rosen and Boeve had twice applied to the NIH for funding but had been denied based on lack of preliminary data.  With the inclusion of these new data, which was funded by your donations, they were awarded the grant -- details of their award can be found at http://projectreporter.nih.gov/project_info_description.cfm?aid=8760412&icde=22317742



2014 - Mom was survived by her father ("Grandpop/Jack" and 5 (soon to be 7) grandchildren (L-R: Emma, Henry, Finn, Lily and Josh).  We will carry on, but we will never forget.



About the trial:

The below is provided by Bluefield project and excerpt from the FORUM press release explaining the significance and hope of this trial: 

“The trial will focus on what is known as FRM-0334. A mutation in one of the two copies of the progranulin gene that an individual carries* results in abnormally low levels of progranulin protein and culminates in the development of FTD.  

(*Note: (you receive a copy of progranulin from each parent, see the post on the science on the March 13^th, 2014 –“It’s Already Been a Year; FTD/PPA Explained:  here” for more details)

Therefore, drugs that elevate progranulin levels by increasing gene expression from the second, unmutated copy of progranulin hold promise as potential therapeutics if they are able to restore levels in mutation carriers.

...FRM-0334 is a brain-penetrant histone deacetylase inhibitor (HDACi) that increased progranulin expression in cultured rodent neurons and, most importantly, in cell lines derived from patients carrying progranulin mutations. Phase 1 safety studies [completed] showed no toxicity or side effects. 

And now, on to phase 2 – clinical trials:

FORUM’s clinical trial will enroll 30 individuals at multiple participating research sites across the United States and Europe. Individuals must carry a mutation in progranulin and know their mutation status. Trial participants will receive either FRM-0334 (low or high dose) or placebo for 28 days, and progranulin levels in both plasma and cerebral spinal fluid will be measured before and during the dosing regimen to determine if FRM-0334 raises progranulin protein levels.”

2007, a year before diagnosis, - I am so grateful for Mom to see me graduate!

Want to learn more?  Below Additional details and links:

Laura Mitic, from the Bluefield project explains more here: http://www.bluefieldproject.org/news/phase-2-trial-in-progranulin-deficient-ftd-announced   

Interested in learning what other dementia related clinics trials are out there?   Another great place for clinical trial info is the federal website - https://clinicaltrials.gov/ct2/show/NCT02149160?term=FRM-0334&rank=1