DENIAL

Typically, the first reaction most people have to be diagnosed with muscular dystrophy is denial.  That was my first reaction after being informed that I have muscular dystrophy.  They did not know exactly what type I had, therefore, I would be referred to neurologists that specialize in muscular dystrophy.  Since there were no prior cases on either side of my family, I thought that it could be a bad diagnosis.

I think it is difficult for most people to come to the conclusion that they have a terrible disease and possibly even fatal. The sentence is basically a future of disability, pain and reliance on others to take care of you, and death in some cases.

It also means a loss of income for the person impacted. If that is the main breadwinner in the family it has substantial impacts on the ability’s family to live as they have before.

In my case, my primary care physician that gave me the diagnosis referred me to UCLA Medical Center (UCLA).  UCLA is considered to be one of the best neurology medical centers in on the West Coast. The doctors that examined me came to the diagnosis that I did not have muscular dystrophy. They did not know what I had, but they did not think it was muscular dystrophy.

Now, I did not know what to think since one doctor told me one thing and UCLA told me that I did not have it. So, basically, it just confused me!

My primary care physician then referred me to the University of California, Irvine Medical Center (UCI) in Orange.  They performed the first DNA test which came back negative.  My neurologist at UCI was convinced based upon the physical symptoms that I have Facioscapulohumeral (FSH) muscular dystrophy.

My neurologist at UCI persevered and ordered a second DNA test. The second DNA test confirmed that I had FSH muscular dystrophy. This DNA test was done by the world’s best DNA labs out of the Netherlands.  The doctor indicated that this test was conclusive and no future tests were needed.

Sometimes it is very difficult to diagnose this disease, as I had a number of symptoms that were very difficult to diagnose.   I am grateful to the legion of doctors that worked hard to find out what disease that I have.  If you have any symptoms or suspect that the symptoms match, the first thing that you have to do is that you have to get a confirmed diagnosis.   It will be necessary to find a Neurologist that specializes in muscular dystrophy.

MUSCLE BUILDING SUPPLEMENTS

One of the most important things that you can do to deal with muscular dystrophy is to take muscle building supplements.    The most widely accepted muscle building supplement is creatine.  Creatine is a natural substance in the body, it also comes from some protein-rich foods such as meat or fish.

Creatine is typically used to improve strength, increase lean muscle mass and help the muscles recover after exercise.  It is widely used by athletes from high school to professional sports.  It is estimated that approximately 50% of college and professional athletes use creatine.

Not everyone responds well to creatine, it is not tolerated by everyone and may not work for every person.  So I would suggest that if you try creatine…. research side effects and start at a low dosage of one gram and build up from there.  Also, purchase high-quality German creatine, otherwise, you are wasting your money.  It is recommended that you drink at least a pint of water when taking creatine….water helps the muscles absorb the creatine.

I have found that taking HMB – Hydroxyi-Methybutyrate-Monohydrate works well.  HMB is a natural compound that is found in the body, it is created in the body from leucine.  Studies have shown HMB decreases muscle damage after exercising.  A good time to take HMB is after a strenuous exercise.

Creatine or HMB should be taken as part of a total supplement program including L- Arginine, and L-Glutamine.  If you are younger than 40, HMB may not be as effective as creatine.

FEAR

 I wanted to address fear as a definite part of dealing with muscular dystrophy.   Fear is something that everyone with a major disease deals with.  So, I thought it would be important to bring it up as an important issue. 

The doctors informed me that I had a type of muscular dystrophy. They were not sure what kind it was but it was a definite diagnosis.  It would be necessary to get my affairs in order. Basically, I had just been given a death sentence, along with pain and suffering.

Then the fear arrived!  How do I tell my wife?  I know she will be saddened and hurt.  That was the last thing that I wanted was to hurt her.  So, I had a major dose of fear how I would tell my wife.  My next thought was that this cannot be true (denial).  Yes, doctors are wrong all the time, which is what I told myself.

Then I thought what will happen to my family!    That is when the fear set in again, I was depressed and fearful for what would happen to my family and ultimately to me.  It would be a situation that I did not have control.  Now that was a very trying and difficult day!

So, there are many forms of fear!  I have probably experienced many of them.  Here are a few that I have experienced!

·         Fear of telling a loved one

·         Fear of the unknown

·         Fear of failure

·         Fear of dying

·         Fear of being a burden to family members

·         Fear of a loss of control

As time goes on I will cover each one.  I have learned to minimize fear, as it does not help anyone.  Everyone has fears; the difference is what you do with those fears.  Don’t let them continue to grind you down.  The way to tackle fear is to accept the facts, then take action to minimize the potential impacts.

SUMMARY:

Fear is a very difficult emotion to overcome.  I would suggest researching release techniques and watching videos on the subject on www.youtube.com. 

It may take a number of repetitions before you improve so it will be well worth it.  Also, you may have to do a number of different methods.  These fears have been ingrained in us since childhood it may take some time.

Here is quote from Theodore Roosevelt on taking the office of President during the Great Depression.   “So, first of all, let me assert my firm belief that the only thing we have to fear is…fear itself — nameless, unreasoning, unjustified terror which paralyzes needed efforts to convert retreat into advance.”

DYSPHAGIA - WHAT IS IT?

This is the name for a medical condition that most people are aware of…..unless you have it.  It means that you have difficulty swallowing.  Yes, it is one of the conditions that accompany some forms of muscular dystrophy.  It is also very common in older people.  It is also a condition, if severe enough, that can be terminal.

The first time that I experienced dysphagia…..I thought I was going to die.  Yes, I thought I was going to choke to death.  I was eating some Chinese pad thai, which is a dish that has thick rice noodles.

I swallowed and the food stuck in my throat.  I had never experienced that problem before, and did not know what to do.  I broke into a sweat, with my heart racing.  I was trying to get someone to help but I could not speak.  I was finally able to swallow after about twenty minutes.   Needless to say, I don’t eat pad thai anymore.

If you have Dysphagia here are some solutions that I have found to help. 

(1)  Increase your muscle mass, as the muscles in the throat are impacted by the muscular dystrophy.  There are a number of posts that I will do on this subject.

(2)  Cut your food into small pieces.

(3)  Chew all your food well before swallowing.

(4)  Do not try to swallow large amounts of food at one time.

(5)  Do not eat when you are in a hurry….. take time to enjoy your food.

(6)  Do not eat pasta dishes, breads or any other food that has caused you to have a problem.

(7)  Always have a glass of water with every meal.

(8)  Do not drink really cold drinks as that cause the muscles to cramp, which can be painful.

(9)  If the dysphagia is severe enough you should have your food processed in a blender.

RESOLARIS - THE CURE FOR FSHD?

As I have mentioned in my previous posts, there are no current approved medical treatments that cure any type of muscular dystrophy.  There is truly exciting news  about a clinical trial for Resolaris, a potential solution for people with facioscapulohumeral muscular dystrophy (FSHD).   FSHD typically starts in the face and upper body and progresses to the lower body.  People with FSHD typically experience debilitating fatigue and chronic pain.   FSHD can be fatal, especially with those who have an early onset.  FSHD is typically diagnosed by the pattern of muscle weakness, DNA testing and other symptoms.

Resolaris is a new drug developed by aTyr Pharama,  a San Diego based company.  Resolaris is derived from protein released into the blood by human skeletal muscle cells.  Resolaris is administered intravenously.  aTyr believes that Resolaris will provide help to people with rare myopathies with excessive immune cell involvement.

The clinical trial is the first administration of a naturally occurring protein derived from physiocrines.  Pysiocrines are a new class of physiological modulators that promote the process of restoring stressed or diseased tissue to a healthier state.  The clinical trial is scheduled for 44 FSHD patients in the European Union.  The trial is designed to evaluate the safety, tolerability, pharmacokinetics and biological activity of adult patients.

For more information about Resolaris please visit the aTyr websitehttp://www.atyrpharma.com.

PERCEPTIONS

People have perceptions that doctors know everything about muscular dystrophy.   A general practitioner will not be as knowledgeable about the disease due to the broad variety of issues that they deal with.  If you have any questions that you might possibly have a form of muscular dystrophy go directly to a neurologist who deals with muscular dystrophy and the related diseases.

Obviously, neurologists who specialty is neuromuscular diseases do know quite a lot about the various types of muscular dystrophy.  Actually, they are quite adept at diagnosing this disease.

Since there are no known cures available, I need to outline that this is your medical issue.  This is your fight, obviously you doctor can help, but you need to take the responsibility to beat this disease……no one else can do it.

This disease will beat you or you can beat this disease.   In other words…..blaze your own trail.  Do the things that are going to help you deal with this crippling rehabilitating disease.  Don’t believe that there is nothing that you can do to help you live with this!

DEPRESSION

Depression impacts nearly everyone that has muscular dystrophy (MD).  Yes, most of us have to deal with it since MD impacts our lives so significantly.  Once you understand that you have this disease it is difficult to deal with the reality.  Especially, once you understand all the ramifications and that your life will never be the same again.
   

When I was informed that I had muscular dystrophy, it was as if I had been run over by a truck.  The doctors indicated that FSH runs in families.  So, I thought that the doctors had to be wrong again (denial). I am the exception to that rule, as I did not have FSH or any other type of muscular dystrophy on either side of the family.

That is when depression set in for three days…it was like a black hole that I could not get out.  I was depressed about the difficulty of the situation.  Then, I decided that I was going to find a solution and BEAT this disease.  So, I started researching MD and any possible solution.

So, the first thing to do is to recognize it for what it is!  Here are some of the classic symptoms.

1.    Feeling of sadness

2.    Feelings of worthlessness

3.    Lack of interest

4.    Lack of focus

5.    Thoughts of suicide or death

 SUMMARY:

Depression is a normal emotional condition with any major disease.  If it becomes more pronounced you should seek competent medical care.  I chose to not discuss it with the doctor or take any type of medication.