Sunday, December 30, 2012

Nothing ever seems to be easy

It has been two months since I was diagnosed with a blood clot in my calf. Since then, the blood thinning process has not been without problems. When I read it could be difficult, I never thought it meant experiencing large swings and constant visits to the doctor for INR testing.

Blood-clot-2The first couple of weeks my blood would not thin (0.8 – 1.5). With new instructions (no broccoli and reduce the number of other items with vitamin K) and an increase in the medication, my blood finally thinned to 2.2. But, it worked too well and the next test showed 3.5. Okay, new instructions – reduce the medication and have a couple of salads. When we checked again, it was now too low (1.5 again). Okay, maintain the dosage, but stop eating all salads, do not drink green tea, and, stop taking my multi-vitamin and CoQ10. When we checked this Friday, I was in the zone again (2.3). The latest instructions are to keep doing what I am doing (and not doing) and come back in two weeks.

For a person that sees his doctor once a year for his annual physical, I have had eight visits so far in two months. Every time I step into the lobby, there are six-to-twelve people waiting. Some are coughing (oh-oh), some look in pain (probably nothing to worry about), and some look healthy (whew).

Okay, let’s review …

A.  The good news:
  • I have not experienced any pain or swelling in the calf since week two.
  • I am two months into a six month regiment.
  • I increased my calf exercise routines.
  • I don’t sit very long without getting up and moving around.
  • I haven’t bitten my tongue recently.
B.  The bad news:
  • My blood won’t stabilize within the recommended level.
  • These doctor’s office visits for INR testing are getting old fast.
  • I miss my daily luncheon salad and my green tea.
  • I still have four more months left (at least I hope that is all).
C.  Lesson learned: Keep moving!

Sunday, December 23, 2012

Bionic Suit Helps Paralyzed Patients Walk Again

This is another article from ABC News concerning the Ekso Bionic Suit.  I have written about the Ekso before (April 22 and September 12).  The reason I continue to write about these new technologies in personal mobility is the advancements that are being made at a significant rate.  None of these robotic/bionic assists are perfect yet, but they are getting closer and prices will come down until these assists become affordable.

One of the key features that I have not seen before is that the weight of the actual Bionic Suit is transferred to the ground so the user doesn’t have to carry the additional weight.

Yes, we aren’t there yet, but we are getting a lot closer.  Something like this will make living with Kennedy's Disease a little easier until there is a treatment or cure.

_____________________________

Ekso-Suit

Patients paralyzed by spinal cord injuries are taking their precious first steps at a Southern California hospital with the help of a battery-powered bionic suit that was first designed to help soldiers carry heavy loads.
 
“Mentally it’s a wonderful feeling to be upright and moving,” said Aaron Bloom, who was paralyzed two years ago in an accident.
 
The 27-year-old was told he would never walk again, but with each step in the Ekso Bionic Suit  at Huntington Memorial Hospital, he’s defying the odds.
 
“Right now, I don’t really need anybody holding me. I can lift my hands up and put a little weight on these crutches and feel pretty comfortable,” he said.
 
The suit, which costs $150,000, is strapped on over a person’s clothes. Foot plate sensors help locate the center of gravity so the person wearing the suit can maintain their balance as they take each step. A computer is worn on the back to help drive the hip and knee motors.
 
The entire suit weighs 45 pounds, but the load is transferred to the ground so the patient does not bear the weight, according to Ekso Bionics, the company behind the breakthrough technology.
 
It took Bloom weeks of practice to feel comfortable using the suit. He knows it’s not a perfect solution, but for now, it is hope.
 
“I have no doubt in my lifetime that there will be some sort of solution for spinal cord injuries,” he said. “I firmly believe that I will be able to walk in the future. It’s just a matter of time.”

Saturday, December 22, 2012

Happy Holidays

It is a magical time of year filled with the spirit of Christmas.

Christmas-Trees

Thank you for reading my blog.  Thank you for your comments and suggestions.

It is my hope that I have more time next year for writing articles. I want to publish 2-3 articles a week.

I wish you all …Happy-Holidays
Happy Holidays
and, a safe, healthy and happy 2013



Sunday, December 16, 2012

A Holiday Message of Hope

As you know, I am so appreciative of all the work our researchers do to try to find a treatment for Kennedy's Disease.  During my tenure as president of the KDA, I have had the honor of meeting several of these researchers.  These dedicated individuals continue to provide hope that someday there will be a treatment.

Isabella Palazzolo is one of these researchers.  Her message below needs to be shared with all of us living with Kennedy's Disease, as well as other motor-neuron diseases. 
_________________________

Dear Bruce and Ed, and every member of the Kennedy’s Disease Association,

I want to use this email as a means to thank Bruce for his help for my green card application, and wish the best of luck to Ed in this new role. I am sure you will be excellent.

Once again, I would like to send a message of encouragement to each and all of you: as technology and resources become available for scientific research, the time is exciting and full of new discoveries and improvements. In the recent years, rare diseases like Kennedy's disease are investigated not only by academic labs but also by pharmaceutical companies, and this extend the number of scientists that you can count on your team.

I recently joined a pharmaceutical company, working on clinical trial and marketing application of new drugs for Multiple Sclerosis, ALS and, hopefully soon, other diseases of the motorneuron. I speak for my own experience: the patients associations, the interaction with patients, is where myself and most of my colleague find inspiration and motivation everyday.

Nothing like meeting the people at the Kennedy's Disease Association has driven my scientific career, and I would like to send this message of encouragement to all of you: your enthusiasm and your energy is what made me thrive for my PhD. Your interest in our small progresses, and your expectation for a drug yet to come is inspirational in each of my new challenges.

Wish you all happy holidays and merry Christmas,

Isabella
Post doctoral Fellow in Regulatory Affairs – CMC and Manufacturing Sciences
Biogen IDEC
Hope

Saturday, December 15, 2012

We’ll never understand …

My wife and I spent several hours last night watching the Sandy Hook Elementary School tragedy. This morning we started watching the news again still trying to absorb what has happened.

We cannot imagine what the parents, family and friends went through, are going through today, and will continue to go through for years to come. And, we thank God that the teachers were able to respond in an intelligent and calm manner to protect and then evacuate their students.

Of course, we all ask ‘why did this happen’ and ‘how could this happen’? And, even when we have the answers we will never really understand. Our conscious mind just cannot digest something as horrible as this.

As a nation, and across the world, our hearts reach out to this community. We pray for them, no matter what our beliefs.

At a time like this I think of John Lennon’s song, ‘Imagine’.

“… Imagine all the people living life in peace
You may say I'm a dreamer, but I'm not the only one
I hope some day you'll join us and the world will be as one”




Sunday, December 9, 2012

The Human Body in 3D

I need to recommend a website that many of you will find interesting. To me, the BioDigital Human website is fascinating. It allows you to explore the human body in 3-D as well as isolate or dissect certain organs, systems and parts of the body.
 
HumanBody

Some of the many features that this website offers are:
  • Interactive Exploration: Explore the virtual body in interactive 3D: search, zoom, and rotate objects
  • Customized Views: Dissect the body and produce custom cross-sections
  • Dynamic Animations: View dynamic animations of health conditions and disease progression
  • Annotated Screenshots: Create, save, and share annotated screenshots
I played with it for a few minutes the other day and then went back again yesterday to play some more. Being able to isolate certain parts of the body or see how certain health conditions impact parts of the body is fascinating. Being able to isolate certain parts of the body and organs is interesting. Having a description on the same page view is helpful. Having a window pop up to provide a more detailed explanation further helps explain the organ or system. Also, being able to go back and forth from the standard view to the transparency mode and to the isolation mode helps simplify and focus the viewing of specific organs and systems.
There are dozens of health conditions to explore (but no Kennedy’s Disease yet).
Yes, you have to register the first time and log in every time you use it. And, yes, they would like you to upgrade to the more powerful version (30 day free trial). I don’t see where they tell us what the premium version costs, however.
Anyway, check it out if it sounds interesting. I will visit this site many times in the future especially when I have questions on how something works, where it is and what it looks like.


Friday, December 7, 2012

What wealth cannot buy

I wrote this article in the ‘spirit that is Christmas'.

My wife and I were watching TV today. The program showed a celebrity taking his two daughters shopping in New York. Whatever the children wanted, their father bought. During the commercial, my wife asked, “When you were a child, did you ever wish to be rich?”

Xmas-spiritAfter considering her question for a few minutes, I answered, “Not that I can remember.” I then went on to explain that we never really thought about being lower middleclass. We had food on the table every day, clothes to wear summer and winter, and Christmas was always special because of our family traditions.

We discussed this topic for several minutes. Some of the reasons we came up with for not really considering what it would be like to have wealthy parents were:
  • All of our friends’ parents were similar in regards to occupations and income.
  • Family values and traditions were strong including daily family dinners, discussion times, family celebrations, and spiritual upbringing,
  • Strong friendships (both our parent’s friends and our friends).
  • And, resource sharing among friends.
There were several other things that made life special for each of us and not always ‘wanting’, but we settled in on two that were the most important.

1. Resource sharing made our lives pretty special.
  • A friend had a BB gun, we all were able to use it.
  • When another friend’s parents had a color television, we all spent time at his house watching our favorite programs.
  • Another friend’s parents had a house on a lake and a ski boat. We were always able to spend a little time each summer with them on the lake.
  • Our school (less than a block away) had basketball courts, a large grassed in area (that became our football field), and a baseball backstop and diamond. We had a lot of pickup games at the school.
  • A friend bought a car when he turned 15. We were all able to ride around town and to school by just coming up with a little gas money (usually a quarter because it would buy a gallon of gas). The only issue we ever had was who remembered to call out, “I’ve got shotgun” before anyone else.
  • My dad was part owner of a bus lines and he supplied the neighborhood kids with truck tire inner-tubes.  They were great for sliding down hills in the winter and floating on the lake in the summer.
2. Yet, my wife and I both agreed that family values and traditions were probably the strongest reasons.
  • Sitting down every evening as a family to eat dinner was important.
  • Being able to discuss issues, opportunities and plans always helped.
  • Family and friends getting together for birthdays, holidays, anniversaries, etc. always was special.
  • Celebrating Thanksgiving, Easter and Christmas with family and friends. These were always the special moments we remembered because these occasions brought great joy.
  • Our church brought us all together at least once a week. It was a moment to share common values and beliefs.
Xmas-hopeWe both agreed that our lives were much simpler because possessions were less important and family, friends, beliefs and traditions were the foundation of what made us happy.






Wednesday, November 28, 2012

Bite your tongue!

tongue biteOver the last couple of years I have started biting my tongue on occasion (about every 6-8 weeks). These bites are not like taking a nip out of the tip of your tongue. These bites are in the middle third of the tongue and when I bite into it there is a crunching sound and some excruciating pain. Most of the time I take a hunk of flesh out of the tongue and it bleeds a little.

When I checked with my neurologist about this problem, he said my jaw and tongue muscles are atrophying. My wife tells me I need to be more aware of my chewing habits. I did notice that many of these times I am chewing on a salad.

Since beginning to take Warfarin for my blood clot, my blood has thinned totongue pressure a point where anything (a scratch or cut, for example) won’t stop bleeding unless pressure is applied. Well, when I bit my tongue last Wednesday, it would not stop bleeding. Pressure didn’t seem to help. Ice seemed to help a little. Finally, pressure with a tea bag finally worked. Two hours later, however, it broke open again. More ice, pressure and tea bags.

A week later the tongue is still swollen a little, but everything else seems back to normal. And, I am listening to my wife … like I always do. (Okay, my fingers are crossed)

Being someone who is normally pretty optimistic, very little gets me down for long. I seem to have a way of turning negative events into a learning experience and find something positive about it. But, this incident has me concerned. If it was a more serious wound, or internal bleeding (from a fall, for example, causing a serious sprain or broken bone), the situation might require immediate attention.

QuestionWhen I discussed this problem of biting my tongue with another KD’r about my age, he mentioned he is also having this problem. Now I am wondering if more people living with Kennedy’s Disease have this problem as their atrophy progresses. Please let me know if you are also experiencing this issue.

Tuesday, November 20, 2012

The Highest Form of Giving Thanks

Give thanksThanksgiving is a time to reflect and give thanks. It is also when family and friends ‘break bread’ together. It is a time for ‘counting our blessings’.

However, this blog post is about the constant recognition that life is perfect and only our thoughts and perceptions are flawed.

I was introduced to the term ‘ceaseless prayer’ several years ago. At the time it was only a concept to me – something that I didn’t understand at all. How does one constantly pray? Perhaps I didn’t really understand the term ‘prayer’. So, I looked up ceaseless prayer recently and came across the following explanation by Guy Finley: “… the practice of ceaseless prayer … doesn’t preclude being active in life; what is required of us is that our first action is stillness, followed by a willingness to receive whatever we have been given by Life.”
 
ceaseless prayerAfter reading this I recognized an attribute that I had acquired over the last few years. Dozens of times each day I find myself giving thanks for all the little things in life that God has given me. Even more important, I notice that there are times where I just am at peace with myself and the world. No thoughts or words are necessary. I am not focused on any one particular thing. I am totally at peace – content –comfortable – thankful for just being alive and experiencing the beauty and perfection of life.

How can one not be thankful for this wonderful thing that we call life? Yes, it is not perfect because our concept of perfection is badly flawed. Yet, it is perfect in every way. Only our thoughts disrupt this acknowledgement and tear us away from this peaceful existence … this communion with God.
  • Should having a disease without a known treatment disqualify me from this recognition?
  • Should having family members going through difficult times stop me from experiencing it?
  • Should discovering a blood clot in the leg make it any less real?
  • Should having a bad day … things not going my way … change anything?
I don’t think so. But, it often does. Sometimes, during these special moments, the stillness is broken with thoughts, comparisons, and analysis.

Fortunately, once you have sensed this beauty and perfection, the feeling never really goes away. It can be masked (or covered up) with my being ‘back in my world’. Yet, something deep inside reminds me that, “Life is okay. It is actually perfect in every way.” And, I am at peace again.

Happy Thanksgiving

Thank-you


Tuesday, November 13, 2012

When is it too thin or not thin enough

Week 2 of 26

shot-pillToday I finished my twice-a-day anti-clotting drug shots. I will not miss this morning and evening ritual and my wife won’t either. My stomach looks like a black and blue pin cushion. And, my left hand has pinholes on every finger. The pinholes will continue as they test me twice a week until I stabilize at the new desired anticoagulation level.

The Warfarin dosage is still being tweaked to find the right level … somewhere between 2.0 to 3.0. The 2-3 times a week blood test will help monitor where I am at and also let me know when it is time to increase or decrease the Warfarin level.

I feel I am getting to know the doctor’s office staff too well. My once a year visit has turned into five in two weeks and growing. This is a trend that is not conducive to my feeling of being a healthy and happy person.

calf-exerciseI know it is hard to believe, but my daily exercise routine that has been so effective over the last couple of years has increased with the addition of several calf exercises. I have incorporated these exercises into my morning routine as well as performing these calf exercises every 2-3 hours. Exercise appears to help keep the calf muscles loose and the pain minimized.

I had never really considered blood clots before. A sister and brother had them, and my mother-in-law has them also. It is now another thing for me to consider as my mobility declines. I have already changed a few of my routines to ensure that I keep the blood flowing through my legs all day.

I now have adopted a new saying …

“Just keep moving”

keep-moving

Sunday, November 11, 2012

Remember our veterans

  And, honor them today, tomorrow and every day


When I returned from my second Vietnam tour in 1969, I was greeted byveterans-make-love war protestors in the San Francisco airport. I still remember the feeling as I walked down the long corridor from the plane to baggage claim. Those of us in uniform were yelled at, spit upon, and called all kinds of names including, “warmongers” and baby killers.” It was a rude awakening and not the kind of ‘welcome home’ we were looking forward to.

Fortunately, on my second leg, the pilot walked up to me when I first found my seat and asked if I wanted to move up to First Class. I had never flown First Class before and it was quite the experience. I felt honored and the food sure was great.

veterans-thank-youMy brother, Don, who was a Korean veteran, picked me up at the airport. He took me to an American Legion post for a drink. When I walked in, my brother embarrassed me by announcing that I had just returned from Vietnam. I was immediately surrounded by WWII and Korean veterans asking questions, thanking me for my service, and buying me drinks. I felt pretty special.

We then drove to my home town and my brother took me to the VFW post. As we entered, he again announced that I had just returned from Vietnam. And, once again, I was surrounded by other veterans. It was a great feeling to be supported, but I couldn’t shake that initial feeling of being hated by the protestors in San Francisco.

Fortunately, our returning veterans today are not experiencing anythingveterans-given-so-much like those of us who returned from Vietnam. Yet, many soon discover that returning into society is often difficult and not very rewarding.

I don’t believe we do a good job of helping our veterans reorient into civilian life. These men and women should be honored and rewarded for their service to our country. They, along with their families, have sacrificed so much and deserve more because of what they have given.

I am not a person who believes in all the entitlement programs that are available today. That being said, I do not think we do enough for our veterans and their families. And, we, as citizens, employers, managers, and owners, could definitely do more. So, please, …

veterans-honorHonor our veterans

… today, tomorrow and every day








Tuesday, November 6, 2012

On a personal note …

Another challenge ahead for me.

Saturday I felt my left calf trying to cramp. Now, I haven’t had a leg cramp in years, so, to say the least, I was surprised and a little concerned. When trying to walk, I experienced some pain in my calf and foot. That night I noticed my calf was swollen and the back of the calf had a hot-spot about the size of a half-dollar. As I tried to massage the area of the cramp, it was painful to the touch.

blood-clot-1Sunday morning I could hardly walk. My left calf and foot hurt with every step. The more pressure I put on the front of the foot (ball and toes) the more pain I experienced. Yet, being the exercise nut I am, I did my short routine. The more I exercised the legs, the better it felt. When I was through with my routine, the leg felt pretty good. When I checked the calf that evening, it was more swollen and painful to the touch.

Monday morning … the pain was even worse and the half-dollar size spot on the calf was hot and very painful to the touch. My wonderful wife told me to call the doctor.

That afternoon, I saw my doctor who immediately sent me over for anblood-clot ultrasound. The actual ultrasound was very uncomfortable … the position I was in and not being able to move caused neck cramps and back spasms. They checked me from the hip to the ankle, several times. The technician found a blood clot in the vein and the backup of blood was about five inches long (leading down the leg).

Back to the doctor I went and he gave me the bad news. Blood Thinner! He also said because the pills take a week or two to kick in, I had to have twice a day injections in the stomach for seven to ten days with regular visits to the doctor to test my blood. Worse of all, because I am less than mobile, I need to stay on the drug for six months.

As we analyzed the possible reason for the clot, it appears it probably was probably caused by my writing for long periods of time without taking a break. For the last ten months I have been writing several hours a day without moving. I remember days were I sat typing for four hours straight without a break. Okay, I admit it, that was not too smart of me.

Well, today is day two of another adventure in my life. Needless to say, I won’t be sitting for more than two hours at a time again.
 

Don’t Forget to Vote!

VoteFor those of my readers in the United States, I am asking that you make an effort to vote today. It doesn’t matter who you vote for; what matters is that you vote.

This is projected to be another close election, so every vote counts and you can make a difference.

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.
 
"NOT A ONE-WAY STREET"
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-member-org.300x100

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).

Tuesday, September 25, 2012

An interesting week (and somewhat worrisome)

avodartLast week was interesting for me. Since beginning my own dutasteride trial, it was the first time in eighteen months that I felt any real weakness. The following is a summary of my daily journal for this unusual episode.

Day 1: I noticed a slight weakness in the legs when getting up and transferring. Then when I exercised, the leg extensions were very difficult. Everything else was okay, but not easy. The rest of the day the weakness was noticeable.

Day 2: I noticed more weakness in the legs and also the arms. I was experiencing some muscle tightness.

Day 3: Legs and arms are weaker. The entire exercise program was more difficult. The rest of the day I struggled far more than normal (the last 18 months).

Day 4: Still noticing the weakness. I am beginning to have some concerns.worried What is going on?

Day 5: Not quite as weak today. My exercise routine went okay. This is positive. Let’s hope I am on the mend again.

Day 6: Weakness hardly noticeable.

Day 7: Everything seems fine again. Full strength, no problems with exercises, no noticeable weakness in other activities. Still have some muscle tightness after exercising, however.

Day 8: Everything is fine once again.

I am taking this one day at a time again. I became so used to good day after good day, I forgot what it was like to have ‘weak’ days. Life has been pretty good since starting the dutasteride trial. The development is interesting and I hope not a trend.  I have enjoyed the ride.








Wednesday, September 19, 2012

Human Muscle Regrown

muscle scaffoldingAs soon as I saw the New York Times’ article by Henry Fountain, “Human Muscle, Regrown on Animal Scaffolding,” I had to read it. The two page article was focused on how this new technology appears to be working for some soldiers returning from the war that need rehabilitation. However, the more I read the more I wondered if this might be something available for those of us living with Kennedy’s Disease.

Excerpts from the article follow, but you can follow the above link to read the entire article.
___________________________
 
PITTSBURGH — In the months after a roadside bomb in Afghanistan blew off part of his left thigh, Sgt. Ron Strang wondered if he would ever be able to walk normally again.
 
The explosion and subsequent rounds of surgery left Sergeant Strang, 28, a Marine, with a huge divot in his upper thigh where the quadriceps muscle had been. He could move the leg backward, but with so much of the muscle gone he could not kick it forward. He could walk, but only awkwardly. 
 
“I got really good at falling,” he said of his efforts. And Sergeant Strang, a tall, athletic man, had to give up running. 
 
But that was two years ago. Now he walks easily, can run on a treadmill and is thinking of a post-military career as a police officer. “If you know me, or know to look for it, you can see a slight limp,” he said. “But everybody else, they go, ‘I would never have guessed.’ ” 
 
There is something else they would never have guessed: Sergeant Strang has grown new muscle thanks to a thin sheet of material from a pig. 
 
The material, called extracellular matrix, is the natural scaffolding that underlies all tissues and organs, in people as well as animals. It is produced by cells, and for years scientists thought that its main role was to hold them in their proper position. 
 
But researchers now know that this scaffolding also signals the body to grow and repair those tissues and organs. Armed with that knowledge, the new body builders are using this material from pigs and other animals to engineer the growth of replacement tissue in humans. 
 
The technique used on Sergeant Strang, though still in development, holds particular promise for some of the thousands of veterans of the Iraq and Afghanistan wars who have been maimed by explosives and have lost so much muscle from an arm or a leg that amputation is sometimes the best alternative.
_________________________________
 
Later the article further explained the process and got into more specifics.
_________________________________
 
muscle scaffolding tissueThe scaffolding is isolated by stripping out all of the living cells from a tissue or organ, leaving an intricate three-dimensional web of proteins and other compounds. Removing the cells eliminates the possibility that the material, of animal origin, will be rejected outright by the body when it is implanted. But the matrix does provoke a less intense immune response, Dr. Badylak said, which is necessary for it to work. “You actually need the immune system to recognize the material.” 
 
“The body can say, ‘This is not me,’ but the signals that are there are actually telling me that I need to rebuild that tissue,” he added. 
 
The matrix has to be in contact with healthy tissue, which is why scar tissue must be removed first. “If it’s put in the middle of a scar, it doesn’t remodel because it’s not exposed to the bloodstream and sources of cells,” Dr. Badylak said. 
 
Stitching it directly to the muscle also ensures that it will be stretched when the muscle is activated, beginning the day after surgery, when patients start an intensive program of physical therapy. Putting a mechanical load on the matrix tells the body, in effect, that this should become muscle and not some other kind of tissue. 
 
Sergeant Strang was skeptical when he first signed up for the trial and cleared all the physical hurdles to qualify for it — among other things, patients must have some muscle remaining and enough undamaged nerves so the muscle can work. But at that point he was willing to try anything to be able to walk normally again.
                              _________________________________

Well, after reading the article, I had to contact our resident biology professor and ask if this process might be applicable for someone with Kennedy’s Disease. Ed’s response was:
 
“It could, it would appear to depend on if there were any neurons left.  The common belief is the muscles atrophy is due to the neurons dying.  If there were no motor neurons, then it would seem that the muscle would not grow (note the need for the presence of muscle and nerves in the patient to be eligible for the procedure).”
 
Well, that wasn’t a definite “NO” anyway.

Wednesday, September 12, 2012

New Breed of Robotics Aims to Help People Walk Again

As you already know, I am an advocate of technology. I believe that in the not too distant future, robotics will be an efficient way to walk and will also be cost effective. Today’s article in the New York Times is another view into the future of robotics … and for those of us living with Kennedy’s Disease, hopefully our future.
______________________________________ 

By Brian X. Chen                    Published: September 11, 2012 

Robotic_legs

RICHMOND, Calif. — When Joey Abicca pokes a metal crutch into the ground with his right arm, tiny motors start whirling around his left leg, lifting it and moving it forward. When he does the same with his left arm, the motors whir to life again and his right leg takes a step. The metallic whine is like something out of the movie “RoboCop.”

Mr. Abicca, a 17-year-old from San Diego, is essentially wearing a robot. His bionic suit consists of a pair of mechanical braces wrapped around his legs and electric muscles that do much of the work of walking. It is controlled by a computer on his back and a pair of crutches held in his arms that look like futuristic ski poles.

Since an accident involving earth-moving equipment three years ago that damaged his spinal cord, Mr. Abicca has been unable to walk on his own. The suit, made by a company called Ekso Bionics, is an effort to change that.

“It’s awesome — I love getting back up,” Mr. Abicca said before strapping on the legs during his recent visit to the company’s headquarters here. “Even just standing up straight is awesome.”
Ekso is one of several companies and research labs that are working on wearable robots made to help disabled people or to make the human body superhuman. In 2010, Raytheon released a suit for soldiers that is designed to reduce injuries from heavy lifting. And in Israel, a company called Argo Medical Technologies also makes a robotic suit to help paraplegics walk again.

Ekso says it was the first company to introduce a self-contained robotic suit, without any tethers to, say, a power supply. And though its suits for the disabled are now used only in rehabilitation centers, it is looking ahead to a day when they will let people take to the sidewalks, the shopping malls — and maybe even the woods.

Ekso, which was founded seven years ago by engineers in Berkeley, Calif., takes its name from the word exoskeleton, meaning a skeleton that is on the outside of the body. Originally financed by the military, the company collaborated with the University of California, Berkeley, and the military contractor Lockheed Martin on a device called the Hulc, which allows soldiers to carry up to 200 pounds of equipment over mixed terrain.

In February, Ekso started shipping exoskeletons that are being used in physical therapy to get people out of wheelchairs and using their lower bodies so their muscles do not deteriorate. About 15 rehabilitation centers in the United States are using the suits; they pay $140,000 for each one, along with a $10,000 annual service contract.

With a frame of aluminum and titanium, the bionic suit, called the Ekso, is battery-powered and weighs about 50 pounds. The suit is not yet at the point where a disabled person can use it independently. The batteries last three hours, at which point a physical therapist needs to replace them. Supervision also ensures that a patient does not fall over; the company said hundreds of people have walked in the suit, and none had fallen.

The Ekso suit is already going beyond just helping people walk again. The latest version released last month includes walking modes with different difficulty levels to challenge patients to make progress in their rehabilitation.

In the first mode, when a patient is first learning to walk with the suit, a physical therapist sets the step length and speed and presses a button on a computer to trigger each step. In the second mode, the patient can trigger a step with buttons on the crutches. And in the third, most advanced mode, once the patient has learned to maintain her balance in the suit, she can trigger the suit to take a step just by shifting her weight.

Patients learn to walk in the robotic suits surprisingly quickly, said Eythor Bender, chief executive of Ekso Bionics, who previously worked at Ossur, a company that made artificial limbs. “People who come in haven’t walked for years and years,” he said in an interview. “They are walking on their own in two days.”

Yoky Matsuoka, the former head of innovation at Google and now vice president for technology at Nest, which makes a smart thermostat, said the time was right for exoskeletons to graduate from science-fiction fantasy to commercial reality. Battery technology has improved significantly, materials like plastics and carbon fibers have gotten more lightweight and durable, and robotic systems have become easier to control, she said.

“In the last 10 years, the evolution of some of those materials and some technologies allows us to make robots that really stay human-safe and human-friendly,” Ms. Matsuoka said.
However, the cost of such devices for medical use could still be an obstacle, she said, because such specialized equipment sells in smaller quantities, making it difficult to bring the price down. She said that wider use by the military could help.

At some point, the Ekso suit may have to clear some regulatory hurdles. The current version of the suit is exempt from regulation, but if the company introduced one for personal use at home, it would probably have to gain approval from the Food and Drug Administration, said John Tugwell, director of regulatory affairs at Ekso.

Ekso is hoping that the suits will, in the next few years, really start to go places.
Russ Angold, a founder and the chief technology officer of the company, predicted that exoskeletons, like today’s smartphones, would slim down and get more powerful and affordable, becoming part of everyday life.

“The dream at the end of the day is be able to walk into a sporting goods store, like an REI, and pick up an exoskeleton,” Mr. Angold said. “They’re like the jeans of the future.”



















Tuesday, September 11, 2012

IGF-1 Continues to Show Promise

GOOD NEWS on the Research Front
 
MDA’s Quest Magazine just published an update on IGF-1. Maria Pennuto, a previous recipient of a KDA Research Grant and MDA funding, provided the following update to reporter Amy Madsen.

researcherI have written about IGF-1 in several previous posts because of its potential. We hope to hear more promising news at the upcoming KDA Conference and Educational Symposium the second week of October in New Orleans.
______________________ 

SUMMARY
  • Mice with a disease resembling spinal-bulbar muscular atrophy (SBMA) that were treated with an insulin-like growth factor 1-based compound had better motor function, slower weight loss, improved muscle health and increased survival time.
  • Recent studies have shown that IGF1 works in SBMA by reducing toxicity caused by a mutation in the androgen receptor (AR) gene; it also helps promote muscle and nerve growth.
  • The new findings suggest that IGF1 potentially may be effective in ameliorating the disease.
Mice with a disease resembling spinal-bulbar muscular atrophy (SBMA, ormice models Kennedy’s disease) that were treated with a compound based on insulin-like growth factor 1 (IGF1) had better motor function, slower weight loss, healthier muscles and longer survival time than mice that received an inactive substance, an MDA-supported research team has reported.

The research team also found that SBMA mice that overproduce a muscle-specific form of IGF1 have a milder disease course than mice that produce less of the protein.

The new findings suggest that IGF1 potentially may be effective in ameliorating the disease via at least two mechanisms:
  • directly reducing toxicity caused by a mutation in the androgen receptor (AR) gene by changing the way the androgen receptor protein behaves; and
  • generally promoting and regulating skeletal muscle growth, and improving survival of muscle-controlling nerve cells called motor neurons.
The research team reported its findings online Aug. 29, 2012, in Molecular Medicine. To read the full report, see IGF-1 Administration Ameliorates Disease Manifestations in a Mouse Model of Spinal and Bulbar Muscular Atrophy. MDA supported Maria Pennuto at the Italian Institute of Technology in Genoa, Italy.

Findings show IGF1 compounds hold therapeutic potential
 
The researchers treated SBMA mice with a compound called mecasermin rinfabate (brand name Iplex), which is a combination of IGF1 and IGF1 binding protein 3. (The binding protein helps IGF1 last longer in the body.)

Male mice were randomly assigned to receive abdominal injections of the IGF1-based compound at a daily dose of 15 milligrams per kilogram of body weight, or an inactive substance. To mimic the typical clinical setting (in which a diagnosis of SBMA occurs after symptoms appear) the researchers began injections when the mice were 10 weeks old, after disease onset, and continued through 20 weeks.

The researchers evaluated body weight, motor function and survival in the mice. They found that, when compared to the placebo-treated mice, those treated with IGF1 had:
  • less body weight loss;
  • significantly improved grip strength; and
  • longer survival time (by an average of approximately three weeks).
In addition, the researchers found that the IGF1-treated mice had markedly reduced muscle shrinkage (atrophy) and degeneration.

The study results provide a basis for further study of IGF1-based compounds as potential therapies for people with SBMA.