Rare Disease Day - Raising Awareness for Kennedy's Disease

Today, February 28, is Rare Disease Day.

Every few days a baby is born with this DNA defect

The defect is in the ‘X’ Chromosome and it makes testosterone almost a poison to the body. The disease is Spinal Bulbar Muscular Atrophy; more commonly known as Kennedy's Disease.

Since there is currently no treatment or cure for this defect, a boy will grow up not knowing when the disease will begin to attack his motor neurons and muscles. Often it begins with painful cramping and uncontrollable muscle spasms. Over time it will attack most of his muscles often making it difficult to even swallow liquids.

As the disease progresses, the motor neurons will begin to die and the muscles will waste away. Eventually, he will have mobility issues and might require a wheelchair. Many will be forced into early retirement and almost every one of them will worry about the financial welfare of his family. Pneumonia will become as feared to him as any disease because of his inability to clear the lungs of phlegm. If he becomes a father, he will live with the knowledge that his daughters are carriers of the defect and could pass it on to future generations of his family.

Even though the defective gene has less of a physical impact on females, they might also experience several of the symptoms later in life.

Fred Briones put together this short video that shows families from all over the world living with Kennedy's Disease. Great job, Fred!
 

Phlegm Story - Part II

Back in October of last year, I wrote an article, ThePhlegm Story. At the time, it seemed I was in a never-ending battle with phlegm. It wasn’t just the quantity of phlegm, it was also the thickness of it. Looking back, I am amazed how the issue affected my daily life and my strength.

I am pleased to report that for the last two months the phlegm issue is under control. Let me tell you what I discovered and what I did about the problem.  Note: Please check with your doctor before trying anything drug related, even if it is over the counter.

First, I had a good discussion with my doctor about the issue. He came up with two potential causes and we discussed what to try initially.

Second, I found that certain foods generate far more phlegm than others do. Dairy products are now consumed in moderation. Soy oil products can also be an issue. If I am aware of what I’m eating and when I eat them, it makes a difference. I try to consume phlegm-generating products for breakfast or lunch. This gives me several hours to clear my system before bedtime.

Third, choking generates an over-abundance of phlegm. If I am cautious when chewing and swallowing, the choking issue is not an issue or at least an infrequent issue.

Fourth, when I am generating more phlegm, a half-teaspoon (2.5 ml) of guaifenesin (i.e. Mucinex or a similar generic product) in the evening clears the problem right up within a few hours. Only rarely in the beginning did I have to take a half-teaspoon earlier in the day.  And, remember to drink more water when using guaifenesin. I find it helpful to have a glass of water first thing in the morning.

A side effect of this phlegm issue was the constant clearing of my throat (several times an hour). Recently, I might clear my throat 3-4 times a day. 

Gene Therapy for Neurodegenerative Diseases

SMA News Today published an interesting article. Perhaps another opportunity for us living with Kennedy's Disease.

INT41 Gene Therapy for Neurodegenerative Diseases Granted Priority Patent Status

The patent application for gene therapy candidate1 INT41, developed by Vybion for the treatment of Huntington’s disease, spinal muscular atrophy (SMA), and other neurodegenerative diseases, was granted Track One status from the U.S. Patent and Trademark Office (USPTO).

The patent application covers the treatment’s composition and methods of use. The Track One designation gives the application priority review, allowing it to get a final decision within about a year. Track One has fewer requirements and doesn’t need a pre-examination search for the application.

“Vybion is pleased to receive Track 1 status on INT41 and anticipates rapid review and allowance,” Vybion CEO Lee Henderson said in a press release.

INT41 gene therapy was specifically designed to target neurologic diseases caused by polyQ expansions, resulting in mutant proteins that accumulate in motor neurons and subsequently lead to cellular degeneration. The gene therapy aims to detect and target the “toxic” sequence, promoting its degradation and thereby preventing its accumulation in neuronal cells. ...

... INT41 is considered a potential therapeutic strategy for other neurodegenerative diseases with similar biological features, such as spinal cerebellar ataxia, Alzheimer’s disease, and spinal and bulbar muscular atrophy (SBMA). However, the treatment has so far been more fully developed for Huntington’s, according to Vybion’s drug pipeline, and more studies are required to validate its effectiveness and safety for it and other neurodegenerative conditions. ...

To read the entire article click on the title above.

For those that want to read the actual study, follow this link. Journal of Neurodegnerative Diseases

Human Gene Editing

I have written posts a few times in the past about CRISPR, a technology that allows the editing of human genes. In my current book I'm writing, the idea of gene editing is an important aspect of creating super-healthy children.

The New York Times published the following article today. As with anything revolutionary in nature, their is controversy surrounding it.

Human Gene Editing Receives Science Panel’s Support

"An influential science advisory group formed by the National Academy of Sciences and the National
Academy of Medicine on Tuesday lent its support to a once-unthinkable proposition: the modification of human embryos to create genetic traits that can be passed down to future generations.

This type of human gene editing has long been seen as an ethical minefield. Researchers fear that the
techniques used to prevent genetic diseases might also be used to enhance intelligence, for example, or to create people physically suited to particular tasks, like serving as soldiers.

The advisory group endorsed only alterations designed to prevent babies from acquiring genes known to cause “serious diseases and disability,” and only when there is no “reasonable alternative.” The report provides an explicit rationale for genetic research that the federal government has avoided supporting until now, although the work is being pursued in countries like Sweden and China.

So-called germ line engineering might allow people to have biological children without fear that they have passed on the genes for diseases like Huntington’s, Tay-Sachs and beta thalassemia, and without discarding embryos carrying the disease-causing mutations, as is often done now. Though such cases are likely to be rare, the report says they should be taken seriously. ..."

Follow the link above to read the rest of the article.

Another interesting mobility device

I came across this link for the Tek-RMD on the KD-UK Facebook page. http://www.matiarobotics.com/tek-rmd.html

The device has some interesting features. What interested me most was the one video where the man was able to sit down in an ordinary chair. It has been a couple of years since I gave that up. I do miss the recliners and watching television from an easy chair. They are definitely more comfortable. It would be great in the kitchen, especially with the higher cupboards. I liked the remote control option. You can park it somewhere else after you have transferred to a bed or chair. I am also curious how stable it is. And, could you comfortably sit back in the seat strap?

Operating Information:

• The maximum grade of climb is 3%
• The range is 3.7 Miles (6km)
• Load Capacity 264 lbs (120kg)
• Turning Radius 23.6″ (60cm)
• Weight (empty) 242.5 lbs (110kg)

Potential Issues:

• The small wheels might not work well on carpets or safely drive over small ridges/bumps
• Throw rugs might bunch up when turning
• It is currently designed for a paraplegic
• Hand and arm strength is required for self-mounting (how much arm strength)
• What kind of pressure does this place on your leg joints?

I will definitely bookmark this webpage and continue to follow the evolution of the device.

Trouble Climbing Stairs?

Paul Lazenby posted the following on Facebook. I thought he did a nice job of explaining what happens as our lower motor neurons and muscles decline in performance. Thanks, Paul, for letting me post this.

_________________________

Trouble climbing stairs ... perhaps the most common symptom of Kennedy's Disease. We are all guilty of saying yup that's me and not giving it much more thought.

Have any of your care givers explained to you why it is an early symptom? How just accepting it will lead to further symptoms? or what you can do to mitigate its future effects?

I'm not a doctor or a physio therapist, but I can give an overview as I understand it, and you can take it to your own doctor or physio team and have a good chinwag.

KD causes our muscles to degenerate even as the neurons begin to be plugged with aggregates.
Research has shown that the shorter the axon (that's the long stringy bit that goes from the nucleus to the neuromuscular junction), the quicker the loss of function. The psoas have perhaps the shortest axons of all. They attach at the spine and along with the iliacus muscles (attached to the hip bone) they combine to become the iliopsoas which attach to the femur. They are our only muscles which join our spine to our legs.

They have been called the most vital muscles in our body, helping us to rise from a seated position, elevate the knee for climbing, and as the ligaments of the diaphragm wrap around the top of them, they even aid in our breathing and our 'fight or flight' response

Together this means, as we all know, that the iliopsoas get damaged early on and we have trouble climbing stairs... but damaged is probably the wrong word. They lose some of their stretch.and have a harder time returning to their relaxed state. Most muscles work in pairs (think triceps and biceps), one pulls and the other relaxes. One of the iliopsoas' functions is to support the spine so we don't have an anti-support muscle to specifically pull it back into a relaxed state; we have to stand, stretch and move. If we don't, that group of muscles gradually shorten. Sleeping in the fetal position, sitting for prolonged periods, riding bikes and driving (especially bucket seats) all shorten the iliopsoas. For us the process is just sped up

Fortunately, just as we can abusively shorten them, we can take ourselves out of automatic, and manually stretch them back into a more relaxed state, working with certified people to regain more fluid movement even with reduced strength. We are all familiar with the emaciated, hauntingly thin yogi masters able to tie themselves in knots; they do not have a great deal of strength, but they do have flexibility and balance. It has been shown that the AR in our muscles induce a loss of force, but not mass (in other words they have changed, but are intact). As our disease progresses we may need extra help to achieve that flexibility and balance, but I think its worth it. 

 The benefits of being able to stand and walk, even short distances goes well beyond just going from point a to b, (devices will always do that better than man), the downward pull on the front of the lower spine allows many muscles at the back of the body to lengthen and tone upwards providing support for the head; that gives our bulbar muscles a break and aids in swallowing.

Please, Talk to your team

Photo by 

Kuriositas