ALS Research

donnie-oregon

ALS Ice Bucket Challenge Donations Lead to Significant Gene Discovery

http://www.alsa.org/news/media/press-releases/significant-gene-discovery-072516.html

Largest-ever study of inherited ALS identifies new ALS gene, NEK1

Washington, D.C. (July 25, 2016) — According to a paper published today in Nature Genetics, researchers part of Project MinE’s global gene sequencing effort, funded by The ALS Association through ALS Ice Bucket Challenge donations, have identified a new ALS gene, NEK1, which now ranks among the most common genes that contribute to the disease, providing scientists with another potential target for therapy development. This was the largest-ever study of familial (inherited) ALS, involved contributions from over 80 researchers in 11 countries, and was led by John Landers, Ph.D., of University of Massachusetts Medical School in Worcester, Mass. and Jan Veldink, Ph.D., of University Medical Center Utrecht, in The Netherlands.

ALS is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Eventually, people with ALS lose the ability to initiate and control muscle movement, which leads to total paralysis and death, usually within two to five years of diagnosis. While 10 percent of ALS is familial, meaning it’s genetic, the other 90 percent of ALS cases are considered sporadic, or without a family history. However, it’s very likely that genetics contribute, directly or indirectly, to a much larger percentage of ALS cases.

“The discovery of NEK1 highlights the value of ‘big data’ in ALS research,” said Lucie Bruijn, Ph.D., M.B.A. “The sophisticated gene analysis that led to this finding was only possible because of the large number of ALS samples available,” she said. “The ALS Ice Bucket Challenge enabled The ALS Association to invest in Project MinE’s work to create large biorepositories of ALS biosamples that are designed to allow exactly this kind of research and to produce exactly this kind of result.”

The ALS Association announced funding for Project MinE, an international effort to sequence the genomes of at least 15,000 people with ALS, in October 2014, which established the U.S. arm of the initiative with Dr. Landers’ research efforts. Project MinE was the brainchild of entrepreneur, and person living with ALS, Bernard Muller, who, along with another patient, Robbert Jan Stuit, saw an opportunity to expedite genetic understanding of the disease after a tour of a Research ALS Center in the Netherlands where thousands of DNA samples were stored and not being used because it was too expensive to do the research the Center wanted to do.

According to Muller, “The ALS Ice Bucket Challenge enabled us to secure funding from new sources in new parts of the world. Thankfully, The ALS Association brought Project MinE to the United States. This transatlantic collaboration supports our global gene hunt to identify the genetic drivers of ALS. I’m incredibly pleased with the discovery of the NEK1 gene adding another step towards our ultimate goal, eradicating this disease from the face of the earth.

NEK1 was discovered through a genome-wide search for ALS risk genes in over 1,000 ALS families, and was independently found through different means in an isolated population in The Netherlands. Further analysis in over 13,000 sporadic ALS individuals compared to controls again revealed an overrepresentation of variants in the same gene. The variations discovered in the gene sequence are predicted to lead to gene loss of function. NEK1 is known to have multiple roles in neurons, including maintenance of the cytoskeleton that gives the neuron its shape and promotes transport within the neuron. In addition, NEK1 has roles in regulating the membrane of the mitochondrion, which supplies energy to neurons and in repairing DNA. Disruption of each of these cellular functions through other means has been linked to increased risk of ALS.

“Global collaboration among scientists, which was really made possible by ALS Ice Bucket Challenge donations, led to this important discovery,” said Dr. Landers. “It is a prime example of the success that can come from the combined efforts of so many people, all dedicated to finding the causes of ALS. This kind of collaborative study is, more and more, where the field is headed.”

Understanding NEK1’s role in disease will provide an important new target for therapy development. The ALS Associations is currently funding Drs. John Landers and Catherine Lutz, Jackson Laboratories, to develop novel mouse models to better understand the consequences of the loss of the protein’s function for the ALS disease process. They will provide rapid access to these models for the broader ALS research community as soon as they are generated. These tools are important for ALS drug development.

Funding for Project MinE also came through The ALS Association Georgia Chapter, The ALS Association Greater New York Chapter and New Amsterdam City Swim.

This August, The ALS Association is seeking to raise awareness and funds to finish what the ALS Ice Bucket Challenge started in 2014: an end to ALS. The new campaign, called Every Drop Adds Up, pays homage to the Ice Bucket Challenge, visually emphasizes the now iconic “bucket,” and builds on the idea that when people come together they can make big, impossible things happen. Visit www.everydropaddsup.org to learn more.

About The ALS Association
The ALS Association is the only national non-profit organization fighting Lou Gehrig’s Disease on every front.  By leading the way in global research, providing assistance for people with ALS through a nationwide network of chapters, coordinating multidisciplinary care through certified clinical care centers, and fostering government partnerships, The Association builds hope and enhances quality of life while aggressively searching for new treatments and a cure.  For more information about The ALS Association, visit our website at www.alsa.org.

January 2017 ALS in our Family

donnie-oregon

This is my husband, Donnie, pretty handsome don’t you think. I love his smile and mustache.  This picture was taken about 3 years ago in Oregon while on a camping trip to visit relatives.  We had a great time and want to do more of it.

Donnie has ALS, which in itself is scary, but scary good in a way that he has a slow progressive form of the disease.  By looking at this picture, you wouldn’t know that he is disabled and has the disease.  If you look close enough, he does in this picture show limited use of his left had and arm.  What doesn’t show is the drop foot and brace he is wearing on his left leg.

Now in 2017 he has virtually no use of his left arm and hand.  He still can walk, but has to be really careful not to trip and fall because of his foot drop.  He has had a few of those and they are not good, he scrapes himself up pretty badly and could break bones, thankfully the bones breaking hasn’t happened.

But, what I really want to talk about:  My goals, Our goals, and Our future.

I started this blog, an online website www.campingboatingleisure.com, and am selling on Ebay.  Even though I am not very tech savvy, I am trying.  So my goal this year is to try even harder and make this work and make some money. Also, to spread the word about ALS and get others more educated.

Our goals are a little harder, because the first goal has to happen so we can monetarily make it work.  Our goal is to travel more while we can and visit all of our relatives and friends across the lower 48.

Our future:  Who knows what that will bring, but I know that we will deal with every step a day at a time.  Long range is to live, laugh, love, and travel as much as we can.  I love this man pictured above, and plan, no cross that out, I promise to make our lives as full as we can.

Thank you for taking the time to read this today.

 

The world of ALS Photos

I am reblogging this article of Photos to let others inside the world of ALS.  My husband also has this disease, not as advanced as this, but tells of a future for us.  Please spread the word.  Research is always necessary for any incurable disease.

Is this personal work or client work? Client work What about this session was most memorable? This session! Ahhhh! Well, we live in a small town. Everyone either knows you or knows of you. I have known for several years who this woman was.. this insanely strong superhero of a Mother and Wife. I approached […]

via BE INSPIRED Session featuring Christy Morgan Photography —

Reblog:Morrie

The third Tuesday- We Talk About Regrets — Vong’s Blog

Pages 62-66 On the third Tuesday Morrie arrived with the normal bags of food—-Pasta with corn, potato salad, apple cobbler— and something else: A Sony tape recorder. Mitch wanted to record what they talk about and he wants to have Morrie’s voice so he can listen to it later. Morrie and Mitch talked about Morrie’s […]

via The third Tuesday- We Talk About Regrets — Vong’s Blog

I reblogged this, because ALS is a disease that I didn’t even know the first thing about, but since 2015 I have had to learn a lot.  My husband was diagnosed with this horrific disease after several years of testing, procedures, and several neorologists.  Sorry for the spelling.

Anyway, recently my husband who has a very slow progressive form of the disease, has been getting weaker.  No use of his left side, and hard to do even easy tasks.  Very frustrating for him.

He has always been a very hands on type of person in every aspect of his life.  Including farming, trucking, and helping with my feed store.  Lately, his back has been hurting him so bad that he can’t stand or walk for more than 5 minutes.

It is hard for me to watch some of the small changes.  Because even the smallest change can effect his daily life.  Please say a prayer for all those suffering with this disease and for all the people effected with diseases with no cure.  God Bless all.  Merry Christmas.

I am not looking for sympathy, but we need more research and understanding about this disease.  The more people out there that even recognize the term ALS, the more interest there will be in research and also it is one of the hardest diseases to determine.  You have to rule everything else out before a diagnosis can be made.

Sorry this comes up today, but have been thinking I need to do more about getting the word out.

 

 

The Bumble Bee Bus

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The Bumble Bee Bus pictured above pulling a boat was how we spent our summers at the lake.  On the other side is a painted a flower and bumble bees.

We grew up in NE South Dakota and had a number of lakes to choose from, but our favorite seemed to be 4 mile lake.  We would take the bus and rent cabins and spend the weekend with all the Aunts, Uncles and cousins that were around.

I have to tell you about one of my most memorable weekends.  It all started with a night crawler and my favorite Uncle Richard (RIP).  He would pick on me mercilessly (all in good fun), but this particular time he got me good or maybe it was me that got him.

He bet me that I couldn’t or wouldn’t bite a night crawler in half. If I did he would give me $5.00.  This was a lot of money back then.  So the bet was on.  I thought about it all day.  Just the thought of biting into that icky thing was enough to make me gag.

The pestering and pushing went on all day.  Back and forth.  A lot of prodding from everyone that was there. A lot of laughs were always had on these trips.  This lake by the way was full of chiggers, leaches, and moss.  But when you are a kid who cares.  We would jump in that lake all day long.  Leaches will come off with a bit of salt pored on them and chiggers can be treated with Calomine lotion.  Remember that pink stuff we all used when we had the chicken pox?

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Above is my Uncle Richard and My Aunt Elaine who still is my favorite Aunt today!  Love you Aunt Elaine and miss you Uncle Richard.

Anyway, that evening around the bonfire, I finally decided to do it (night crawler).  Every one watching.  My Uncle Richard was smiling ear to ear.  So I did it, but not in half, but in 3 pieces and spit the middle out.  It wasn’t quite what I was supposed to do, but I did do it.  Uncle Richard picked on me and said I didn’t do it right, but gave me the $5.00 anyway.  Guess it was enough to see me try to bite through that worm.  They are tougher to bite through than you know.

So the moral of the story is:  always treasure a wonderful memory even if it didn’t taste good.

Daily Prompt: Relax

all-of-us-williams

This is a picture of most of the Hammit Family in Williams, AZ in July 2014.  This is the way our family relaxes from hiking, touristing, and the rain.

Relaxation to us is having some down time, but spending it together.  This picture was taken in our 32′ 5th wheel camper, tight fit, but enough room for the Hammits to relax and enjoy a day together.

I know it is hard to relax this time of year, and we are struggling to do just that now.  With Christmas less than 5 days away, a wedding of our youngest on New Years Eve. And everything in between.

We are trying to fit in a few Drs. appts  before the end of the year, pick up a camper, and visitors coming for the wedding we are busier than ever.

So we need to find that time, maybe it will have to come in the new year.

God Bless all!  Merry Christmas!! Happy New Year!!

Anticipation

christmas-treevia Photo Challenge: Anticipation

Ahh! Christmas Time again!  Seems the older I get, the faster every year goes by.  Did I get everything done in 2016 that I had planned?  I guess some of it, some of it has been deleted completely or has been an altered plan.  My anticipation of the new year is for hope.  Hope for a cure for cancer, ALS, MS, and every other disease out there.  Although that is far from my control.

This next year is going to be a busy one for us.  We still want to travel more, but seems like time just gets away from us and real worktime and jobs are still on top of the list.  We anticipate another trip to Texas and South Dakota, try to fit in North Carolina and Washington State.  Just have to see what fits into our schedule.

Anticipation for all the new trips this next year is always more of wishful thinking than actual time to do them all.

Watch and see where we go next.  Merry Christmas to all.

 

Sitting on my Shoulder

behnke-7

Back row:  Bonnie Buhl, Elaine Juelfs, Valera Bender (RIP), Jeanne Osterman

Front Row: Butch Behnke, Betty Sayer (RIP), Gordon Behnke (RIP)

In October of 2009, my mother died.  She had been diagnosed with cancer in 2006.  According to the doctors, yes plural because you could name the places she didn’t have cancer easier than where she did, my mom had stage 4 cancer and they didn’t give her much time to live.  We were offered two options: 1.  Go home and sign up with hospice, or 2. Try chemo and radiation.  She opted for #2 even though they weren’t giving her much hope.

Well, she surprised all of us the doctors included.  She lived 3 years.  But, they were very tough years.  My mom had a trach and a stomach feeding tube.  Pretty limiting, but she was one tough lady.  We made the most of everyday.

Here is the thing.  She decided to remove her feeding tube.  Now she could not get any pain meds, nutrition, or water.  So as you can guess, her system failed and she passed away after 10 days.  And it is true, she did have that day in the middle where she didn’t even look sick and had lots of energy.  I guess it is kinda like nesting before having children, because she wanted to get out of the house and see her friends, the town, the store I was trying to get open.  We had a great day with her, then downhill she went.

On her last day, we talked a lot.  We both knew what was coming, so I guess you try to cram everything into a few hours.  A lot of tears on my side, but not on hers, she was ready.

One of the things we talked about was her not being here just when I needed her the most.  I was opening my brick and mortar store and was scared to death.  She had run businesses before, but I hadn’t.  She told me that she would be on my shoulder whenever I needed her.  There have been lots, and I mean lots, of days I have needed her, but this one day I knew she was there.

In March 2010, I had to go get license plate for my pickup.  As we all know, just opening a business, I didn’t have a lot of income so I was really worried about the expense.  So, that morning in the shower I asked my mom if she could set on my shoulder today when I went to the court house to buy my tags.

The lady at the counter was very nice, but she came up with a $4,000 some price tag.  I almost cried.  No way I could pay that.  But, she did another computer punch and it was only $1000 some.  That is still quite a bit, but I paid and took my new tags and walked out.

On the way back to Holly, I realized I hadn’t even looked at the tags to see what the plate said.  As soon as I opened the envelope, I started crying.  And thanking my mom.

The tag was VKB 447.  My moms initials are VKB  Valera Kay Bender.  So she was on my shoulder that day. 

These tags have been on all the vehicles I have owned since and we just keep transferring them over.

Love you mom.  Now and Forever.  Thanks for being there that day.  Remember I still need you and hope to feel your touch on my shoulder from time to time.