Monday, December 24, 2018

Merry Christmas & Happy Holidays

We wish you and yours


Thursday, December 20, 2018

Who Packs Your Parachute

Living with a progressive neuromuscular condition tends to push a lot of buttons. It is easy to become down, frustrated, angry, feel less than whole, and not see the beauty that surrounds our daily lives.

My brother sent me a story about U.S. Navy pilot Plumb. I found it fascinating and looked online to confirm the story. Kare Anderson wrote in Forbes a good synopsis of Plumb, his story, and his question to all of us.

About Charles Plumb

Author Unknown

Charles Plumb was a US Navy jet pilot in Vietnam. After 75 combat missions, his plane was destroyed by a surface-to-air missile. Plumb ejected and parachuted into enemy hands. He was captured and spent 6 years in a communist Vietnamese prison. He survived the ordeal and now lectures on lessons learned from that experience.

The story about Charles Plumb, "Who Packs Your Parachute," is a strong and interesting true story that has been shared with many people over the years during lectures and leadership courses.

Who Packs Your Parachute

"...I was a fighter pilot, and he was just a sailor.”

One day, when Plumb and his wife were sitting in a restaurant, a man at another table came up and said, “You’re Plumb! You flew jet fighters in Vietnam from the aircraft carrier Kitty Hawk. You were shot down!”

“How in the world did you know that?” asked Plumb.

“I packed your parachute,” the man replied.

Plumb gasped in surprise and gratitude. The man pumped his hand and said, “I guess it worked!” Plumb assured him, “It sure did. If your chute hadn’t worked, I wouldn’t be here today.”

Plumb couldn’t sleep that night, thinking about that man. Plumb says, “I kept wondering what he might have looked like in a Navy uniform: a white hat, a bib in the back and bell-bottom trousers. I wonder how many times I might have seen him and not even said 'Good morning, how are you?’ or anything, because, you see, I was a fighter pilot, and he was just a sailor.”

Plumb thought of the man hours the sailor had spent on a long wooden table in the bowels of the ship, carefully weaving the shrouds and folding the silks of each chute, holding in his hands each time the fate of someone he didn’t know.

Now, Plumb asks his audience, "Who's packing your parachute?" Who has done something that has helped make your day safer – or easier or more pleasant – or who have you witnessed “packing” for someone else?

Each of us are touched by individuals who provide what we need to make it through the day. Some help inadvertently. Praise that person anyway. You are supporting the kind of behavior you respect – making it more likely to happen again.

This is where during Plumb's talks he asks his audience,

“Who’s packing your parachute?”

Everyone has someone who provides what they need to make it through the day. 

Plumb also points out that he needed many kinds of parachutes when his plane was shot down over enemy territory. He needed his physical parachute, his mental parachute, his emotional parachute and his spiritual parachute. He called on all these supports before reaching safety.

Sometimes in the daily challenges that life gives us, we miss what is really important.

We may fail to say "hello," "please," or "thank you," congratulate someone on something wonderful that has happened to them, give a compliment or just do something nice for no reason."

As you go through this week, this holiday season, and this coming year, recognize people who pack your parachute.

The above story is also my way of saying, THANK YOU.

Thank you for reading my blog, for writing me, for providing suggestions and feedback, for everything else you do in "packing my parachute."

Happy Holidays!

Tuesday, December 11, 2018

Symptoms, Diagnosis, and Treatment for SBMA

This is a well written and easy to understand article in Well Written Health.

Symptoms, Diagnosis, and Treatment for SBMA

Kennedy disease, also known as spinal bulbar muscular atrophy or SBMA, is an inherited neurological disorder. Kennedy disease affects the specialized nerve cells that control muscle movement (specifically, the lower motor neurons), which are responsible for the movement of many muscles of the arms and legs. It also affects the nerves that control bulbar muscles, which control breathing, swallowing, and talking. Kennedy disease can also lead to androgen (male hormones) insensitivity which causes enlarged breasts in men, decreased fertility, and testicular atrophy.

Kennedy disease is caused by a genetic defect on the X (female) chromosome. Since males have only one X chromosome, they are most severely affected by the disorder. Females, who have two X chromosomes, may carry the defective gene on one X chromosome, but the other normal X chromosome lessens or hides the symptoms of the disorder. Kennedy disease is estimated to occur in 1 in 40,000 individuals worldwide. ... 

Diagnosis of the Condition

There are a number of neuromuscular disorders with symptoms similar to Kennedy disease, so misdiagnosis or under-diagnosis may be common.

Often, individuals with Kennedy disease are mistakenly thought to have amyotrophic lateral sclerosis (ALS, or Lou Gehrig's disease). However, ALS, as well as the other similar disorders, does not include endocrine disorders or loss of sensation.

A genetic test can confirm if the Kennedy disease defect is present on the X chromosome. If genetic testing is positive, no other tests need to be done as diagnosis can be made from the genetic test alone. ...

Click on the header link to read the full article.

Monday, December 10, 2018

New Research Could Fine-Tune the Gene Scissors CRISPR

If you are a follower of this blog, you know I am following CRISPR research closely in regards to a potential cure for Kennedy's Disease (SBMA). If this process could reduce the number of CAG Repeats, we might have the cure. One issue that researchers are looking at is how to identify and minimize the potential side effects. Below is a link to the latest article on the fine tuning of the process.

New Research Could Fine-Tune the Gene Scissors CRISPR


When researchers and doctors use the tool CRISPR to correct genetic errors, it may have side effects on the human genome. Now, researchers from the University of Copenhagen have learned how the molecular machinery behind CRISPR works and thus expect to be able to fine-tune CRISPR and remove the undesired effects.

The introduction of the tool for gene editing, the so-called gene scissors CRISPR, in 2007 was a revolution within medical science and cell biology. But even though the perspectives are great, the launch of CRISPR has been followed by debate, especially focussing on ethical issues and the technology’s degree of accuracy and side effects.

However, in a new study published in the scientific journal Cell researchers from the Novo Nordisk Foundation Center for Protein Research have described how one of the CRISPR technologies, the so-called Cas12a, works – all the way down to the molecular level. This makes it possible to fine-tune the gene-editing process to only achieve the desired effects.

‘If we compare CRISPR to a car engine, what we have done is make a complete 3D map of the engine and thus gained an understanding of how it works. This knowledge will enable us to fine-tune the CRISPR engine and make it work in various ways – as a Formula 1 racer as well as an off-road truck’, says Professor Guillermo Montoya from the Novo Nordisk Foundation Center for Protein Research....

Molecular Film 

The researchers have used a so-called cryo-electron microscope to map the technology. The recently inaugurated cryoEM facility at the University of Copenhagen has established the state-of-the-art technology enabling the researchers to take photographs of the different shapes of the molecule when CRISPR-Cas12a cuts up the DNA strand.

They combined it with a fluorescent microscopy technique called ‘single molecule FRET’ that directly observes the motions of the molecules and the sequence of events for each individual protein.

Among other things, this sequence of events revealed to the researchers that three “pieces” of the CRISPR tools must change form for the DNA to be cut properly.

‘Our new study shows the precise series of events in the genome leading to gene editing. These three “pieces” that change, work like airport security checks. You have to complete all checks and in the right order to proceed’, says Associate Professor Nikos Hatzakis from the Department of Chemistry and the Nano-Science center.

[Click on the link above to read the entire article]