Friday, July 29, 2016

Meet a Kennedy's Disease Researcher

Through my association with the Kennedy's Disease Association (KDA), I have been blessed to have contact with several researchers who daily seek a treatment or cure for Spinal Bulbar Muscular Atrophy (SBMA)..

Dr. Kenneth Fischbeck is someone I initially met before I became involved with the KDA. I saw him when he was at the University of Pennsylvania. Fortunately for me, we still maintain contact after all these years. Doctors. Andrew Lieberman and Paul Taylor are two researchers I was fortunate enough to work with during my tenure as president of the KDA. These gentlemen were always willing to answer questions and provide support for those living with our condition.

Besides these three there are several others I have been associated with, but they are only a handful of the researchers who across the globe are in the forefront of the quest for a treatment or cure.

Dr. Chris Grunseich is another researcher at NIH. I have not met him, but the video link below provides insight into his passion for helping those of us living with Kennedy's Disease.  

YouTube Video:  NIH's Chris Grunseich

Every day I am thankful for all of their efforts.

Tuesday, July 26, 2016

2017 annual budget process reflects support for research

Medical research is important for those of us living with a chronic or progressive disorder. The MDA Advocacy Newsletter included the following piece of positive news regarding funding of research.

Increase Funding for Research

One of MDA’s policy priorities is ensuring that maximum funding is available for biomedical research. To that end, thank you to all MDA Advocates who have taken action to encourage Congress to make increased research funding a priority.

Both chambers of Congress have included increased research funding in their spending proposals for next year by increasing support for the National Institutes of Health (NIH). The Senate plan includes a $2 billion increase while the House calls for a smaller, but still substantial increase of $1.25 billion. While these figures are not final, and no agreement has yet been reached in terms of final funding levels for fiscal year 2017, it is promising to see Congress making research funding a priority, and we are grateful to each member who has made sustained and robust research funding a priority. We will follow up with additional information when Congress resumes the budget process in September. 

Monday, July 25, 2016

An Ode to the Androgen Receptor

I found this inspiring piece on the KDUK website this morning. Helen Devine found a way to help explain Kennedy’s Disease and the current research associated with this rare disorder.

When Research Meets Poetry

We have seen at first hand now passionate and driven the research team at UCL is. What we didn’t  Helen is at the front line in the fight against Kennedy's Disease, and to further raise awareness, she entered this poem in a Medical Research Council competition that sought creative writing from researchers that told readers '"Why does my research matter?' We at Kennedy's Disease UK were delighted that Helen was one of the 14 shortlisted finalists this year. Sadly, she didn’t win, but we feel she's a winner with this great explanation of Kennedy's Disease and the vital research she and the team are carrying out at University College London (UCL).

The Max Perutz Science Writing Award aims to encourage and recognize outstanding written communication among MRC PhD students. The annual competition challenges entrants to write an 800-word article for the general public answering tine question: 'Why does my research matter? This is Helen's fantastic entry.

An Ode to the Androgen Receptor

Neurodegenerative diseases
Occur when nerve cells die
We certainly know that it happens
But we aren't quite sure how or why
Parkinson's Disease would be easy
And Alzheimer’s or Huntington’s too
They're probably near the top of your list
If I asked you to name me a few.

But Spinal Bulbar Muscular Atrophy?
Not heard of it before?
There's something special about it,
Let me tell you a little bit more.
Weakness in the arms and legs
Make it tricky for patients to walk
Weakness in the face and tongue
Make it hard to swallow and to talk.

The faults in the Androgen Receptor
A particular genetic mutation
Male patients have the disease
Women pass it to the next generation.
When the receptor binds testosterone
The troubles really start
Patients get weakness, infertility
And problems in the heart_

The disease is slowly progressive
With no treatment and no cure
I'm hoping that might change
If I can understand it a little bit more.
So I'm going on a journey
To find out why these cells die
I am searching for the pathways
using microscopes and dyes.

The very first step is to find a way
To make a good human model
Studies from other cells and mice
May not snow the real disease problem.
Induced pluripotent stem cells
Are an exciting new innovation
Stem cells from patient skin cells
Have the androgen receptor mutation.

Motor nerves from stem cells
I grow them up in a dish
And once they are fully grown
I can study them with relish_
Stress, transport, mitochondria
Possible avenues to pursue
In the course of the research
I may find something new.

Stress is hard to deal with
In research and in a cell
I can go for a little jog
But a cell can't in a well.
So they have a special mechanism
The neat shock response its name
If this isn't working correctly
Then it may be to blame.

Axons carry the messages
One end of the cell to the other
A traffic jam in this transport
Can lead to a spot of bother,
Motor nerves are very long
So they are at great risk
If blockages and hold ups
Mean transport isn't brisk.

Mitochondria provide the energy
A cell needs to survive
If the fuel supply isn't good enough
Then the cell can start to die.
So if their shape is faulty
And they aren't working right
Tine cells start to malfunction
Pack up and say goodnight

If cell death is like a puncture
Discovering it is not enough
The next job is to fix it
And that can prove quite tough.
Motor neurons on a plate
Will be a way to screen
For a drug to reverse cell death;
That would De the dream.

SBMA is a rare disease
But patients still need a cure
I hope I can identify a good one
That's what my research is for.
The findings that I find
May also hold the key
To overall common pathways
In neurodegenerative disease.

My research is for patients with SBMA
For whom taking journeys is hard
And for whom it is a challenge
To read this poem out loud. 

Wednesday, July 20, 2016

Adapting to the Times

I find it interesting to consider what life must have been like for my mother’s brother. He was the first known case of Kennedy’s Disease in our family. At that time, he was diagnosed with muscular dystrophy because doctors didn’t know about Spinal Bulbar Muscular Atrophy

His family lived on a farm in South Dakota. I’ve seen pictures of him in a wheelchair next to a two story farmhouse with five steps leading up to the porch. All the bedrooms were on the second floor. Outhouses were often the only facilities available, especially in the winter when pipes froze up. If you were wealthy, you might have a bathroom in the house.

There was no such thing as handicapped accessible around the farm or in town. No ramps, steps everywhere, few sidewalks and plenty of gravel or dirt roads. Wheelchairs did not appear to be very comfortable and many didn’t even fold up. The first commercially offered electric powered chairs didn’t appear until the 1950s. I envision the term ‘caregiver’ taking on an entirely different perspective in those days.

Somehow my uncle managed to maintain a reasonable and meaningful life.

Today, it is easy to complain about a business not handicap accessible, Or, one just modified to the minimum guidelines of the law. And, it is frustrating when no handicap parking is available.

I have written about ‘adapting’ in earlier posts. We adapt as the motor neurons die and the muscles atrophy. We don’t like what is happening. We often complain. Yet, if we are to maintain a meaningful life, we still must adapt.

I am just thankful that I live in a time where being handicapped is far less restrictive.

If interested, below are several posts on Adapting:

Friday, July 15, 2016

Disappointing - A commentary on those representing our needs

I don't normally make my political feelings known, but I become frustrated when the people who can make a difference in our lives don't.

These people have their own retirement and healthcare programs. They are 'entitled' to these benefits because they 'represent' and supposedly 'serve' their constituents.

It still boggles my mind that these same people decide our future needs and benefits in Medicare programs and Social Security. I have felt for a long time that if any of them had to view their world from out perspective, they would be more responsive.

I don't believe 'they' understand what the 1-in-10 Americans mentioned below go through every day. The 10% doesn't include the families of those living with a rare disease who sacrifice so much to support and care for us.

I would like to see these representatives walk (or roll for those living in a wheelchair) a mile in our shoes before deciding what is important to vote on.  ENOUGH SAID!

Jul. 14, 2016

TOPIC: Advocacy

NORD Issues Statement as Senate Postpones Vote on Cures Legislation

Posted by Jennifer Huron
The following statement was issued by Peter L. Saltonstall, President and CEO of the National Organization for Rare Disorders (NORD), as the Senate announced it would not vote on its Cures legislation, also known as the Senate Innovations for Healthier Americans Initiative, until September at the very earliest.
“On behalf of the 1 in 10 Americans with rare diseases, most of whom are still waiting for a treatment or cure, we are disappointed that Senate Cures was not able to pass at this point.  We will keep pushing for this legislation through the summer recess and into September to ensure the voices of patients and families are heard.
Many people with rare diseases are in a race against time.  There are 7,000 rare diseases and 95 percent of these have no treatment.  This public health issue encompasses cancer—approximately half of people with cancer are battling a rare cancer—and neurological, metabolic, digestive, blood and other disorders that are present across the medical spectrum.  
This vital package includes billions of dollars to spur medical innovation that would help the rare disease community, including new funding for critical research at the National Institutes of Health (NIH) and to accelerate drug approval at the Food & Drug Administration (FDA), and other provisions such as the OPEN ACT and Vice President Biden’s Cancer Moonshot, with the potential to stop rare diseases from altering and ending the lives of too many Americans far too soon. Most pressing is the reauthorization of the Rare Pediatric Disease Priority Review Voucher program currently set to expire at the end of September.”
Peter L. Saltonstall
President and CEO, National Organization for Rare Disorders (NORD)

Thursday, July 7, 2016

An Introspective

I’ve written about the benefits of maintaining a Gratitude Journal a few times in the past. I use mine every day. No, I don’t write everything down that I am thankful for, but it is the springboard for building a habit of giving thanks. Today, saying thank you to someone, to something, to myself, or to God is ingrained in my life.

Initially, giving thanks started out as my recognition of important or major events. Over time, my cognition of things I am grateful for has grown. Now, I find myself saying thank you regularly throughout the day, often for what would have seemed unimportant or just expected a few years ago. There are even times when things haven’t gone well that I pause to evaluate what took place in an attempt to see the good in the experience.

B.K. Clive said it best. “Today, just take time to smell the roses, enjoy those little things about your life, your family, spouse, friends, and job. Forget about the thorns -the pains and problems they cause you - and enjoy life.”

This morning, as I write this post, I am thankful for all of you who follow and comment on my articles. You inspire me.

If you are interested in learning more about a gratitude journal, check out the links below:

Sunday, July 3, 2016

A Patriot Found His Home

Because tomorrow is the 4th of July, please allow me to transition to a subject near and dear to my heart. Last year I wrote something and I was fortunate enough to have it published in a couple of newspapers. This morning I came across the story and once again it stirred my emotions.

A Patriot Found His Home

© Bruce A. Gaughran 2015

I love our country. I know it isn’t perfect, but I believe we would be hard pressed to find a better place to live and raise our children. One of my favorite songs is Lee Greenwood’s “God Bless the USA.”

And I'm proud to be an American
Where at least I know I'm free
And I won't forget the ones who died
Who gave that right to me

And I gladly stand up next to you
And defend her still today
'Cause there ain't no doubt I love this land
God bless the U.S.A.

Whenever I have the opportunity, I visit battlegrounds both in the United States and abroad. While touring these sites, I always take the time to walk through the military cemeteries. Arlington, 
Gettysburg, Manilla’s Military Site, and the Punch Bowl in Hawaii, are just a few of the cemeteries I have visited. These sites are hallowed grounds. To be in the presence of so many who lost their lives in the service of our country always humbles me and brings tears to my eyes.

When my wife and I moved to northern Georgia twelve years ago, I was eager to visit the Chickamauga Battlefield and cemetery. The weekend before Memorial Day, I was ready for another emotional day walking through the national park. But, what I wasn’t prepared for was what Ringgold did to honor their veterans. 

I was thankful no one was behind me when we turned onto Robin Road that morning. As far as we could see there were U.S. flags waving in the morning breeze. I slammed on the brakes because the flapping of the flags sounded like gunshots drawing our attention to the display. At the base of each flagpole was a cross with the name of a person and the war or conflict in which he/she had served. 

There was something respectful, memorable, honorable and perhaps healing about these symbols.
The “Festival of Flags,” as it is called, has over 1,100 flags, representing Ringgold men and women who served in the military. I was also surprised that an ultra-liberal group hadn’t challenged the symbolism of this display in the courts.

As you can tell, I am not politically correct in my views on separation of God and country. I grew up in a time where we said the Pledge of Allegiance in school every morning. The entire class stood, faced the flag, placed our right hand across our chest, and said, “I pledge allegiance to the Flag of the United States of America, and to the Republic for which it stands, one Nation under God, indivisible, with liberty and justice for all.”

I was also an Eagle Scout. Every Monday evening our troop stood at attention, saluted the flag, and said the scout’s Oath. “On my honor, I will do my best to do my duty to God and my country …”
Many people may not know the final verse of the Star Spangled Banner. It also mentions this connection.

"And this be our motto: ‘In God is our trust.’
And the star-spangled banner in triumph shall wave
O’er the land of the free and the home of the brave!”

The more we try to separate God from our country, the weaker our national pride becomes. Ronald Reagan said it best. “If we forget that we are one nation under God, then we will be a nation gone under.”

The “Festival of Flags” is an important tradition. I am pleased that Ringgold recognizes the sacrifices our veterans made for our country. I hope someday, hopefully not too soon, a flag will fly above my name on a boulevard in this town. God bless the U.S.A.

Photo Credit: Catt.Com