Monday, February 22, 2016

It’s Been 40 Years …

Who would’ve believed that when I woke up in the middle of the night forty years ago with a Charley Horse that cramp was just the beginning of the story. Those cramps were real buggers in those days. Sometimes they would last for 15-30 minutes. 

Back then, I just wrote them off because of my physical fitness program. I pushed myself in those days. I loved racquetball, tennis and running. I also worked out with weights three days a week. I viewed cramping as a part of the process of pushing myself, and the need for greater hydration. 

It wasn’t long after the cramping that I began to experience something that I called restless leg syndrome. My wife first noticed it and she brought it to my attention. The leg movement, like twitching, would last for hours. And, no matter what I tried, it didn’t help.   

Yet, for all of the strange happenings in my legs, I never felt better or healthier. In this case, ignorance can be bliss. I am so thankful I never went to a doctor because of the health issues. A doctor would have wanted to run some tests and perhaps prescribe medications. He/she probably would have advised me to back off in my fitness training to see if that helped. 

Ignorance was the best fit for me at the time. I am hot certain I could have handled knowing the truth and the ‘what ifs’ that go along with that knowledge. Perhaps knowing the truth would have changed my life when I was in the prime of my life. The reality of the actual condition, Kennedy’s Disease, along with the confirmation about fifteen years later, came soon enough. In the meantime, I lived a great life. Never once have I said, “I wish I would’ve known earlier.”

But, ignorance isn’t always blissful. What if a person has a treatable health condition or if diagnosing a condition early can improve the chances of curing it? The rules change!

That’s my story, however, and I’m sticking to it. 

Live your life the best way you can.

Wednesday, February 10, 2016

Kennedy's Disease Research; Future possibilities in

Last Saturday, Ed Meyertholen, the KDA's resident biology professor, was the KDA's Forum guest. As always, Ed provides information in a manner that is understandable to almost any audience.

Below are some of Ed Meyertholen’s comments and answers to specific questions concerning CRISPR and iRNA research. To read the entire forum discussion, follow this link: .

“I am not a CRISPR expert, but the technique has been quickly (in the science view of quickly - several years) improving and it is expected that it will continue to do so. I do not think we will see this in humans for a while (years). 

In KD, I can imagine there may be issues on specificity - what cells to send CRISPR to, nerve cells or muscle (or both) and then one has to develop the procedures to specify the cells. The CRISPR work is very new and I do not know if anyone is working on it in Kennedy’s Disease. I suspect that someone will be soon. Nonetheless, I think that it has great possibilities - and I am usually not too optimistic. 

What happens is that they use a virus that normally attacks a specific cell type (like muscle), remove the DNA from the virus and replace it with the DNA needed to get CRISRP to work. The virus with the CRISPR DNA in injected into blood, goes to the muscle cells and instead of injecting viral (bad) DNA, injects the CRISPR DNA. The CRISPR DNA then lets the muscle cells make the CRISPR proteins which then should (and in the mouse, did) alter the DNA in those cells only. DNA in other than muscle cells is not affected. 

Kennedy’s Disease may give rise to other issues - the androgen receptor (the mutated protein) is made in many cells and may have effects (sexual issues, gynomatica (sp)), so we might want to alter the gene in other cells as well. It has great possibilities but it is not ready for prime time yet. This is the CRISPR paper:

There was another paper from NIH (Kurt's lab) where they used iRNA to block the synthesis of the mutant androgen receptor and found that the mice got better. This is similar to work from LaSpada and from Lieberman that had been published a few years ago. These were done in conjunction with drug companies and I would not be surprised if there would be a clinical trial (I think that there is one starting using the same technique in Huntington's Disease) now. The other techniques with iRNA or ISO's are much closer to clinical use. If I remember correctly getting to nerve cells requires getting past the blood-brain barrier issue(s). Kurt's paper is here - .”

Thursday, February 4, 2016

Kennedy's Disease and elevated CPK

Serum creatine kinase, or CPK or CK, levels have been a warning sign of the possibility of many disorders including Kennedy's Disease, aka Spinal Bulbar Muscular Atrophy. Long before I knew I had Kennedy's Disease and before DNA testing was available, my doctor noticed the elevated CPK levels and wanted further testing done. Some of these tests were not a lot of fun. Fortunately, the DNA test is much easier, far less expensive, and more accurate.

As I mentioned in earlier articles, in the last few years my CPK (or CK) count has declined to the high end of the normal level. I can only guess why this has happened (less muscle mass = less wasting).

Yet, it is interesting that there is a strong correlation between elevated CPK and Kennedy;s Disease. While doing some research on the subject, I came across four recently updated articles on the link between Kennedy's Disease and CPK (CK).

1. The Better Health Channel updated their webpage on Kennedy's Disease, aka Spinal Bulbar Muscular Atrophy. The article is well written and easy to understand. It mentions elevated CPK as one of the symptoms, Click here to go to the link.

2. Disabled World also has information on elevated CPK and its potential link to Kennedy's Disease. The article is titled, Creatine Phosphokinase (CPK) Test: Facts & Information. Click here to go to the link.

3. Medscape's article on Kennedy's Disease has this to say about elevated CPK levels. "Problems may arise in resolving apparent positive results obtained before genetic testing is done. For instance, serum creatine kinase (CK) testing is not indicated, yet the CK level may be elevated substantially. One of the author's patients had been treated for inflammatory myopathy for years before the correct diagnosis was made. In another case, the patient was aggressively treated for myasthenia gravis (including thymectomy) before KD was diagnosed.[63] Sorenson and Klein have also reported elevation in CK and transaminases levels in asymptomatic patients with KD." Click here to go to the link.

4. Prezi has a short slideshow on Kennedy's Disease and also links elevated CPK levels as a possible symptom. Click here to go to the link.

Wednesday, February 3, 2016

Orphan Product Extensions Now, Accelerating Cures and Treatments

Just received this update on the proposed OPEN Act. It is stalled in the Senate and we need to band together to show our support. Consider sending a message to your representatives. It takes less than three minutes to do and it could make a difference, Thank you.

Dear Rare Disease Advocate,

As you may already know, we are working to pass legislation called the OPEN ACT (Orphan Product Extensions Now, Accelerating Cures & Treatments) that could double the number of treatments available to rare disease patients.

The OPEN ACT was passed in the House of Representatives last July as part of the 21st Century Cures Act (HR 6). However, the companion legislation in the Senate has stalled, and we are running out of time to get it enacted into law in an election year.

Please CLICK HERE to send an email to your legislators asking them to co-sponsor this lifesaving legislation.

This bipartisan bill could bring hundreds of safe, effective, and affordable medicines to rare disease patients within the next several years by incentivizing drug makers to repurpose therapies for the treatment of life-threatening rare diseases. We need your help to make this bill a law.

Thanks again for your support.