Robbie, that is great news! Thank you for sharing this with us.
Bruce

Personal Blog about "Living with Kennedy's Disease"

I have been considering starting a blog about living with Kennedy's Disease. I initially thought about a blog that was owned by the KDA. But the more I thought about it, I realized that it could not really been personal and I would have to be more professional refraining from certain subjects and opinions. My only concern is with 'doing it right' (i.e., maintaining the discipline to post 2-3 times a week and being creative enough to keep it interesting).

I attended an online seminar on how to set up and manage a non-profit blog the other day. It helped answer a lot of questions. It also reinforced the need to start with a personal blog before trying one for the KDA. I am one step closer to starting the blog, but am still hesitant for some reason.

This forum format is quite good. I believe what makes it good is the ability to hear from many on a variety of subjects. A blog, however, could be something more personal and more focused on 'living with the disease' ... mentally, emotionally, and physically. It is a place for random thoughts on a variety of subjects.

As you can tell from the above paragraph, I am still trying to talk myself into giving it a try. I am one who hates to fail at anything, so that is probably why the apprehension. I guess the worst that can happen is that it bombs (no readership) or I loose interest.

Okay, I decided to give it a try and published a blog this weekend. The discipline of keeping it fresh and interesting will be a challenge, but I hope it becomes something interesting and useful to others. I can handle constructive criticism, so let me know what I can do to make it better.

The link to the blog is: Living with Kennedy's Disease

Good Luck with your new blog Bruce! I will be following along with interest

Bruce, I love the blog. Have you ever thought of writing a book? Tried to sign the guestbook yesterday and today with no luck.

Thanks again.

Another ray of hope on the research front

In January of 2008, the KDA awarded a $25,000 grant to Maria Pennuto, Ph.D. from the National Institute of Health. Her research into the potential benefits of IGF-1 looked promising at the time. Maria and her colleagues have just published the findings of their research. You can read more about it by following this link:
http://www.eurekalert.org/pub_...-08/cp-mmt080709.php, or this one: http://www.news-medical.net/ne...ennedys-disease.aspx.

quote:

Importantly, augmentation of IGF-1/Akt signaling also improved motor performance, body weight, and muscle and spinal cord pathology, and extended survival in the SBMA mice. "Our study establishes IGF-1/Akt-mediated inactivation of mutant AR as a strategy to counteract disease in living animals and is the first to demonstrate that skeletal muscle is a viable target tissue for therapeutic intervention in SBMA," concludes Dr. Pennuto.

This appears to be another step forward and opens doors for additional research and possibly a clinical trial.

Even though the KDA is a small organization, often we have provided the 'seed money' to allow promising research to continue until other funding becomes available.

For those of us who have met Maria, Isabella, and several other young researchers working to find a treatment for KD, we understand how fortunate all of us are that another generation has picked up the baton and continues to move towards the finish line (finding a treatment or cure).

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Robbie and Jim, thank you for your kind comments. Jim, I am removing the Guest Book because I couldn't get it to work either.

I am actually enjoying blogging for the moment and hope I can continue to write and keep it interesting.

Jim, I wrote a book a few years ago and it sits on the shelf ... needing another good editing. I have written a few dozen short stories and some are published on my writing blog: The Writer's Corner. You might enjoy a couple of my true stories: "Brothers in Blood" and "No Two Minute Warning". I especially like: "A Cat's Tale" and "Will I Finally Find Some Peace".

RE: KD PATIENTS AND GENERAL ANESTHESIA - PUBLISHED CASE STUDY NOW ONLINE

This is the URL for the Mayo Clinic case study that was published in the Feb/09 Canadian Journal of Anesthesia.

http://springerlink.com/conten...751602/fulltext.html

Kennedy’s Disease … Unmasked

This was today's blog post. I thought it also belongs in our forum.

What is Kennedy's Disease a.k.a. Spinal Bulbar Muscular Atrophy?

For several years, I have struggled to find an easy to understand explanation of what Kennedy's Disease is and how it works. Recently, I asked one of our doctors on the Scientific Review Board to help me better describe (easy to understand) the defect in our DNA and what it means to us. His explanation follows:

* The androgen receptor is important for our body's response to male hormones, such as testosterone and dihyodrotesteoserone. The receptor is like a baseball glove, and normally catches (I believe it is called "binds") androgens and then moves them to the nucleus, which is the main control center for the cell. There it helps control the things that make us men (like the genes for watching TV, pizza eating, and lounging in our favorite chairs). In Kennedy disease, it is as if the lacing has come out of our baseball glove, and the androgen receptor is not working right. The glove does not have the right shape (it is misfolded), and that makes it hard to catch the baseball well. The androgen receptor can still move to the nucleus, but because it is misfolded, this causes problems. The cell does not work right and eventually might die. And, since this androgen receptor is made by both motor nerve cells and muscle cells, this causes us big problems with moving our arms and legs, and swallowing.

Now for a more scientific explanation, a friend who is a college professor provided the following:

* In Kennedy's Disease, the defective gene is in the "X" chromosome. The symptoms of Kennedy's Disease are due to a mutation in the gene that produces the androgen receptor (AR) protein. The AR protein acts to mediate all the effects of androgens (testosterone and dihydrotestosterone - male hormones) in cells and in our bodies. Those individuals with Kennedy's Disease produce an altered form of the AR protein, a form that, while it still works well enough mediating the effects of androgens (and so males are still male), produces an additional effect of causing certain spinal cord and brain cells to die. The affected nerve cells are primarily those that control the activation of muscle cells. When the nerve cells die, the muscle fibers that they control shrink and become inactive causing the muscle weakness characteristic of Kennedy's Disease.

Research suggests that the altered form of the AR has problems being recycled (cleaned of all garbage) in the presence of androgens and instead of being completely removed; mutant proteins (the garbage) are only partially digested in the affected cells. This partial digestion of the AR results in the production of AR fragments that, through an unknown mechanism, are toxic to cells. Since this effect is dependent on relatively high levels of androgens, severe muscle weakening is generally not seen in women who carry the mutant form of the AR gene.

Okay, now that I have read both explanations, I feel a little more comfortable. However, I still do not believe I have accomplished what I set out to do today (and that was to simplify the explanation). So, I asked "Joe, the Plumber" and he explained the defect like this: The thingamajig is broken and that causes the whatchamacallits not to work properly.

Very good Bruce! Thanks for providing us with an explanation we can all, hopefully, relate to and make some sense of. I am so looking forward to a day when the broken thingamajigs can be fixed properly, so the whatchamacallits work!! Love your blog too, btw. I am a regular reader : )

Thanks Robbie for your kind comments. So far I am enjoying my blog. I was concerned about being creative enough to keep things interesting, but so far everything seems to be going okay.

I want to portray all sides of living with KD ... the good, the bad and the ugly. By relating some of my personal stories (especially embarrassing moments - I have some of those coming up) I hope others will understand and relate to the trials and tribulations of living with the disease. Watch for one called "Inadequate." It is one of those adventures that many of us experience as we try to do something we shouldn't be doing.

How is everything going on the recovery side?

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Just an update on my adventures leading 17 undergraduates on an off-campus semester in Vietnam. We have been here more than 3 weeks and things are going pretty well. More walking than I'm used to, but I have a terrific assistant and I send her off on the long hikes. I bought a small electric bicycle and I'm delighted with the added mobility despite the insane Saigon traffic. My students think the bike is quite cool. We are off to Hanoi next week where they will stay until mid-December...
Cheers,
Mark

Mark, thanks for keeping us up to date on your adventure. The electric bike sounds like a great idea (except for the traffic problems).

Have you traveled near My Tho, Ben Tre, Tra Vinh? I was on the riverboats during the Vietnam conflict (1968 and 69). I checked out the area in Google Earth. It has changed substantially. My Tho is a huge city today compared to what it was back then.

Again, thanks for the update and for the memories.

Bruce We did a 10 day road trip from Saigon to Hue, before boarding a train for Hanoi. While it was not the only academic focus, the American war was a significant part of the experience in the south. Cu Chi and My Lai were quite powerful even for 20 year old students that think of the 60s and 70s as ancient history. They are struggling with VN language, as I have for years.
Mark

Thanks for the update, Mark. It sounds like a great trip. I believe I would find the area very interesting because of forty years of change. In recent TV programs showing Vietnam today, it amazes me how much it has grown and how much more crowded the streets are.