Tuesday, October 30, 2012

Redirecting our focus

Why-MeI believe we all have a tendency to become a little myopic at times. It generally happens when something traumatic happens in our lives. It could be a breakup, a divorce, a serious illness, being diagnosed with an incurable disease, or a death in the family. Focusing on our feelings and fears is something that is natural at a time like that. We need to process it, before we can eventually accept it and move on the best we can. Often, however, we become so entrenched in this event that it takes something even more traumatic to shake us out of this inward trance.

This week, the entire Northeast is going through a major disaster …Sandy-CNN something named the ‘perfect storm’. It is Tuesday, and we already are hearing about and seeing the tragedy that has impacted so many and yet will personally touch millions more before it is over. The constant news reports and updates make this event real to all of us, no matter where we live and no matter what our situation.

Sandy - ABC NewsWhat is happening in the Northeast does not minimize or trivialize what we are going through. It does provide us with an opportunity, however, to refocus and reexamine our lives and our current situation in relation to what has taken place and will continue to happen to those in Sandy’s path. When something the magnitude of this ‘perfect storm’ strikes, we see what true pain and suffering really is.

Our hearts, as well as our thoughts and prayers, reach out to those that have been impacted by Sandy.

Saturday, October 27, 2012

Managing Pain

muscle painMost of us living with Kennedy’s Disease experience pain. Whether it is a deep muscle ache or a severe cramp, one thing for sure, it can be uncomfortable and sometimes “really painful.”

One thing that I found that helps is my daily exercise program. Since I started exercising daily four years ago, I experience a lot less painful moments. This experience made me want to read the article on “Find your path through pain” by Amy M. Avery in the current Humana Active Outlook magazine. Ms. Avery did a nice job of explaining pain as well as providing examples of ways to better manage pain.

“Researchers have found that chronic pain shrinks the brain by as much as 11 percent – equal to the amount of brain lost in 10-20 years of again. People with chronic pain have constant activity in their brain neurons, the message cells that send information to different areas of the brain. That can wear out neurons and damage connections, which can affect mood and decision making, and lead to depression.

The good news is your brain can also help you with pain. Exercise and meeting with friends cause the brain to release hormones that make you feel good. That trains the brain to remind you to do those same activities again. Meditation, tai chi, therapeutic massage, and similar activities can also help calm tensions and ease pain.”

“Movement is the treatment of choice and should a part of almost everyone’s pain management plan,” says Paul Abott, Humana Director of musculoskeletal strategies. “Activities that help stretch and strengthen muscles allow you to mover more easily. They get the joints flowing smoothly – and that leads to more pain-free motion.”

Overpowering Pain

“ … try a mix of exercise and other ideas. Experts say exercise is one of the most important pain-fighting steps you can take. Below are some tips that help take control of pain.
  • Ask for help. A personal trainer can help you choose the right activities.
  • Choose activities you enjoy.
  • Find a distraction. Example listening to music while exercising.
  • Record your progress and how you feel before and afterwards.
Other ideas to consider:
  • Lose weight. It can help with joint pain.
  • Stop smoking. Cigarettes can raise your chances of developing chronic muscle and joint pain.
  • Have a good laugh. It releases endorphins that are natural painkillers.
  • Try relaxation, like deep breathing and meditation.
  • Spend time with a pet. Animals can help lower our heart rate and blood pressure.
  • Listen to music you love. It will help take your mind off of your pain.
Eat to beat pain: (Story by Maggie Green, RD, LD)
Instead of popping a pill, try these foods that may help lower pain and inflammation.
  • Fresh or canned salmon is rich in omega-3 fatty acids that reduce inflammation. Other sources include herring, sardines, anchovies and walnuts.
  • Extra-virgin olive oil can also help remove inflammation.
  • Sweet potatoes have beta-carotene that may lower pain. Other sources include cantaloupe, winter squash, carrots, pumpkin, papaya, apricots, and oranges.
  • Broccoli is rich in vitamin C that helps build healthy joints. Also try bell peppers, grapefruit, oranges, cauliflower, and pineapple.
  • Turmeric might lower pain. Try ginger, also.
  • Green Tea might stop the body from producing certain inflammatory chemicals.
What works for you in managing your joint and muscle pain?

Friday, October 19, 2012

Dutasteride Update – 20 Months

Several readers were concerned after reading my September post, “An Interesting Week,” and asked for an update.

avodart-1As I mentioned last month, I was wondering what was going on. My experiences prior to September were very positive and exciting. Then, for one week something happened. Well, since that one week, everything has been going fine.

Fortunately, in October, I only had a couple of days were my strength was slightly off.  But. fortunately, it was only a minor issue and not enough to prohibit me from finishing my long exercise routines of 100+ minutes. And, except for those two days, I have been as strong as before that fateful week in September.

In two months it will be four years without missing one day of exercises. Obsessive … compulsive … perhaps, but there is something to be said about the benefits of exercise and dutasteride working together. The two have definitely helped me live a better life even though I have Kennedy’s Disease.


On a separate note, I mentioned about a month ago that I was focusing a lot of my time on the editing of my book. That continues to be a priority along with my KDA responsibilities. Within the next few months, however, I expect to publish several research updates from the KDA Conference in Education Symposium that was held last week. There is some exciting news that needs to be shared with all of you.

Tuesday, October 9, 2012

It is Flu Season!

As almost everyone knows that is living with Kennedy’s Disease, the flu can be devastating because of our inability to clear the lungs and the strength to work through the condition. I lost a brother that also had Kennedy’s Disease to pneumonia. Over the last three years I have published several articles on the subject and always recommend the annual flu shot (and a pneumonia shot if you haven’t already had one).

The Full-Time Nanny blog has some great articles on a variety of subjects. The article below has a variety of links to flu information. There is a lot of information that I didn’t know. Take a look when you have a chance.
If you read no other article, read this one Influenza and Children With Neurologic Disorders . Yes, we are far from being children, but we do have a neurological disorder. The one sentence that caught my attention almost immediately: “It has long been known that people of any age with a neurologic condition are more likely to suffer severe consequences from a respiratory disease.”

Also, Dr. Paul Taylor, a member of the KDA's Scientific Review Team, wrote an article that will be of interest to parents.  The title is, "How to choose between the flu-mist and the flu shot for your children."
So, the question for today is: Have you had your flu shot?

30 Blogs with Good Information on the Seasonal Flu

Posted on October 7, 2012 by admin | in Nanny
clip_image001As the weather begins to cool and the days start to get shorter, parents’ minds generally turn towards the upcoming flu season and the best ways to prevent illness in their household. Unfortunately, there are so many misconceptions surrounding the transmission, incubation period, best course of treatment and even vaccinations that figuring out the best course of action can be a challenge. These 30 blog entries offer information on several aspects of the seasonal flu.

What is Influenza?
The first step in treating flu symptoms or preventing them altogether is to understand what influenza is, how it’s transmitted, and what signs or symptoms typically accompany an infection. These five blog posts are all dedicated to explaining what flu is, helping readers to better understand it.
Treatment for Flu?
While there is currently no cure for influenza, there are treatments that can help to alleviate some of the symptoms. In these blog posts, various methods of minimizing your suffering during a bout with the flu are discussed.
Contagion and Incubation Periods for Flu
Understanding how to prevent the spread of flu between family members requires a basic knowledge of incubation periods and how long an infected person can transmit the flu virus to others. In the interest of providing this essential information, these bloggers attempt to clarify facts and dispel rumors surrounding influenza contagion.
Flu Vaccine Information
Though a seasonal flu shot is strongly recommended for certain groups of people, there’s quite a bit of controversy surrounding the vaccine. Information about flu vaccines is varied and often inaccurate, making it difficult for many people to determine whether or not receiving a flu shot is the right choice for them and their family members.
Preventing the Flu without Vaccination
If you’re among the people that vaccination against influenza is not recommended for, or have simply chosen not to receive a flu shot, there are still steps you can take to reduce your chances of contracting the flu virus. These five bloggers offer advice for minimizing your flu risk and helping to prevent the spread of influenza in your household.
Influenza and Possible Complications
While it often seems strange to think that people still die from what is often regarded as a minor, albeit miserable, illness, the fact is that complications from influenza do cause a significant number of deaths around the country each year. In fact, the Centers for Disease Control and Prevention estimates 36,000 people will die from influenza and resulting complications. These five blog entries discuss possible complications, providing valuable information to those that may not realize just how serious the flu can be.

Monday, October 8, 2012

Stem cell breakthroughs

When I read this article in Yahoo News, I immediately thought .. another huge step forward without the embryonic stem cell concerns, beliefs and politics.  This could be big!  Of course it is still in its infancy, but we need to watch this closely to see if it could be another possible treatment opportunity. 

I also need to check with our resident Biology Professor to see if I have reason for my optimism.



UK, Japan scientists win Nobel for stem cell breakthroughs

By Anna Ringstrom | Reuters
stemc cellsSTOCKHOLM (Reuters) - Scientists from Britain and Japan shared a Nobel Prize on Monday for the discovery that adult cells can be transformed back into embryo-like stem cells that may one day regrow tissue in damaged brains, hearts or other organs.
John Gurdon, 79, of the Gurdon Institute in Cambridge, Britain and Shinya Yamanaka, 50, of Kyoto University in Japan, discovered ways to create tissue that would act like embryonic cells, without the need to harvest embryos.
They share the $1.2 million Nobel Prize for Medicine, for work Gurdon began 50 years ago and Yamanaka capped with a 2006 experiment that transformed the field of "regenerative medicine" - the field of curing disease by regrowing healthy tissue.
"These groundbreaking discoveries have completely changed our view of the development and specialization of cells," the Nobel Assembly at Stockholm's Karolinska Institute said.
All of the body's tissue starts as stem cells, before developing into skin, blood, nerves, muscle and bone. The big hope for stem cells is that they can be used to replace damaged tissue in everything from spinal cord injuries to Parkinson's disease.
Scientists once thought it was impossible to turn adult tissue back into stem cells, which meant that new stem cells could only be created by harvesting embryos - a practice that raised ethical qualms in some countries and also means that implanted cells might be rejected by the body.
In 1958, Gurdon was the first scientist to clone an animal, producing a healthy tadpole from the egg of a frog with DNA from another tadpole's intestinal cell. That showed developed cells still carry the information needed to make every cell in the body, decades before other scientists made headlines around the world by cloning the first mammal, Dolly the sheep.
stem cell -neuronsMore than 40 years later, Yamanaka produced mouse stem cells from adult mouse skin cells, by inserting a few genes. His breakthrough effectively showed that the development that takes place in adult tissue could be reversed, turning adult cells back into cells that behave like embryos. The new stem cells are known as "induced pluripotency stem cells", or iPS cells.
"The eventual aim is to provide replacement cells of all kinds," Gurdon's Institute explains on its website.
"We would like to be able to find a way of obtaining spare heart or brain cells from skin or blood cells. The important point is that the replacement cells need to be from the same individual, to avoid problems of rejection and hence of the need for immunosuppression."
The science is still in its early stages, and among important concerns is the fear that iPS cells could grow out of control and develop into tumors.
Nevertheless, in the six years since Yamanaka published his findings the discoveries have already produced dramatic advances in medical research, with none of the political and ethical issues raised by embryo harvesting.
Thomas Perlmann, Nobel Committee member and professor of Molecular Development Biology at the Karolinska Institute said: "Thanks to these two scientists, we know now that development is not strictly a one-way street."
"There is lot of promise and excitement, and difficult disorders such as neurodegenerative disorders, like perhaps Alzheimer's and, more likely, Parkinson's disease, are very interesting targets."
The techniques are already being used to grow specialized cells in laboratories to study disease, the chairman of the awards committee, Urban Lendahl, told Reuters.
"You can't take out a large part of the heart or the brain or so to study this, but now you can take a cell from for example the skin of the patient, reprogram it, return it to a pluripotent state, and then grow it in a laboratory," he said.
"The second thing is for further ahead. If you can grow different cell types from a cell from a human, you might - in theory for now but in future hopefully - be able to return cells where cells have been lost."
Yamanaka's paper has already been cited more than 4,000 times in other scientists' work. He has compared research to running marathons, and ran one in just over four hours in March to raise money for his lab.
In a news conference in Japan, he thanked his team of young researchers: "My joy is very great. But I feel a grave sense of responsibility as well."
Gurdon has spoken of an unlikely career for a young man who loved science but was steered away from it at school. He still keeps a discouraging school report on his office wall.
"I believe he has ideas about becoming a scientist... This is quite ridiculous," his teacher wrote. "It would be a sheer waste of time, both on his part and of those who have to teach him." The young John "will not listen, but will insist on doing his work in his own way."
(Reporting by Patrick Lannin, Alistair Scrutton, Ben Hirschler, Kate Helland, Kiyoshi Takenaka, Chris Wickham and Peter Graff; writing by Peter Graff; editing by Philippa Fletcher)

Thursday, October 4, 2012

Infant DNA Tests Speed Diagnosis of Rare Diseases

I just read an article in the Health section of the New York Times that was interesting.  The whole article can be read by following the link above, but I have pasted a couple of sections below for your reading.

I believe the most interesting comment was, “… families greatly valued the diagnosis.”  Knowing if often far better than not knowing.  Or, as I have often said, “the best surprise is not surprise at all.”

I can understand the value of this type of testing over the older, more established methods of trial and error, … testing based upon symptoms that show up.

genetic testing…. The idea behind the test is to take advantage of what is known about disease symptoms to narrow the search for genetic aberrations. And that, said Dr. Joe Gray, an expert in genome analysis at Orego
“It’s a big genome,” said Dr. Gray, who was not involved with the study. “How do you know what part of it to search?” 
While more research needs to be done before the test is ready for widespread use, he applauded the effort. “If people don’t push the envelope like this, then we won’t get there,” Dr. Gray said. 
About one in 20 babies in newborn intensive care units has a genetic disease, and all too often, no one can figure out what it is. Scientists identified the faulty genes for about 3,500 of 7,500 known genetic diseases, said the paper’s authors, adding that about 500 have treatments.
… With the new method, a computer program searches for genes based on the baby’s symptoms. And because it focuses only on genes that cause diseases in newborns, it avoids an ethical problem: findings that are unrelated to the problem at hand. In sequencing and analyzing the entire DNA, researchers may discover, for example, aberrations leading to conditions that occur only in adults. Do parents really want to know that their sick baby has a gene that increases the risk of Alzheimer’s disease? 
“They did it right, and you rarely hear that from an ethicist,” said Dr. Lainie Friedman Ross, an ethicist and professor of pediatrics at the University of Chicago. Dr. Ross, who praised the researchers for deliberately avoiding such incidental findings, was also not involved with the study.
The method is expensive, though, costing about $13,500. It is not yet covered by insurance. 
clinical historyBut Dr. Stephen F. Kingsmore, director of Children’s Mercy’s center for pediatric genomic medicine, expects to show it is cost effective and hopes insurers will pay for it. He noted that each day a baby spends in intensive care costs about $8,000, so any test that reduces that time would quickly pay for itself. A test that reveals a uniformly fatal genetic disease, for example, can allow parents and doctors to know that continuing life support in the hope the baby will improve is futile and only causing suffering. In the meantime, Dr. Kingsmore said, he is hoping a philanthropist will help defray the costs.
… The biggest surprise for Dr. Kingsmore, though, was that the families greatly valued having a diagnosis. 
When a baby has a mysterious disease, he said, the family often embarks on a terrifying diagnostic odyssey. “Test after test is performed,” he said. “Some tests are invasive; the child is suffering. The child is getting worse and worse — most spend their entire lives in the hospital, and there is no answer.” 
Just knowing the answer can be a comfort. “Providing a definitive diagnosis somehow brings closure,” Dr. Kingsmore said. “It is something they can name.”

Wednesday, October 3, 2012

Can Our Society Afford to Provide Treatments for People with Rare Diseases?

I read the following press release from NORD (National Organization for Rare Disorders) this afternoon and felt it should be shared with a wider audience.



NORD Press Release

A Medical Adviser to the National Organization for Rare Disorders (NORD) Responds to this Question
WASHINGTON DC, Oct. 3, 2012----Can our society afford to provide costly medical care for patients with rare diseases, or would that money better be spent on treatments for more common conditions affecting larger numbers of people?
That was the question raised in a recent publication of the Hastings Center, a research institution dedicated to bioethics and the public interest.
Now a medical adviser to the National Organization for Rare Disorders (NORD) has responded to the report, writing that viewing rare diseases as "peripheral and unimportant" to the healthcare system would be a major mistake on several levels.
"Not only does it seem to justify abandoning millions of people but it also can undermine the integrity of the entire research enterprise," notes Doris T. Zallen, PhD, professor of science and technology in society at Virginia Tech and a long-time adviser to NORD.  "It can reduce the chance of finding successful treatments for ALL diseases -- common and rare alike."
A rare disease is defined in the U.S. as one affecting fewer than 200,000 Americans.  There are approximately 7,000 such diseases affecting nearly 30 million Americans, two-thirds of them children.  Only a few hundred of these diseases have medical treatments, and only a small number are being studied by researchers to develop treatments.
The current investment in research on rare diseases is small, Dr. Zallen writes, and further reducing research on rare diseases by deciding that our society can't afford the cost of providing treatment would "harm the broad scientific enterprise" by discouraging young scientists from choosing that career path.
Because rare diseases often have a singular genetic basis, she writes, "the study of rare diseases has already provided fundamental understandings of genetic systems, biochemical pathways, and DNA-repair mechanisms that have helped elucidate the basis of, and improve treatments for, common diseases.  The blockbuster drugs Botox and Viagra were originally developed to treat benign essential blepharospasm and pulmonary hypertension, two rare disorders."
Since there is little research funding for rare diseases, many patient groups try to raise money themselves, conducting car washes, bake sales and garage sales.  Often, it takes many years for these small patient groups to raise enough money to fund a study.
At a recent meeting of NORD's medical advisers, Dr. Zallen writes, "we struggled to decide which of two excellent research grant submissions should receive the modest available funding.  Even with all its hard work, the patient group providing the funding had raised only enough money for one seed grant."
People with rare diseases are not asking for "preference" when it comes to allocation of resources but only a "fair shake", Dr. Zallen adds.  "The tax dollars used for government research programs come out of their pockets too, and society has an ethical duty not to punish minorities because of their small size.  Not only they, but the wider community as well, would benefit -- since such research is essential to the health of the overall medical science enterprise."
Dr. Zallen has received numerous awards and honors for her teaching, research and outreach activities.  An expert on topics related to bioethics, she helped write the federal guidelines to protect human subjects in gene therapy experiments and is the author of the book, Does It Run in the Family? A Consumer's Guide to DNA Testing for Genetic Disorders.
The full text of Dr. Zallen's response and a link to the original article are available on the NORD website (www.rarediseases.org).