Great News - A Treatment for ALS

In case you missed it, the big news this week is the FDA fast-tracked the approval of a treatment for ALS. You can read about it here:  CNN Health and here:  FDAPress Release.

This is fantastic news for those living with ALS.

I have received a few inquiries asking if this drug could be helpful for treating Kennedy’s Disease.

First off, I am not a doctor and not as knowledgeable as some others with KD concerning this topic. What I do know is that ALS is a condition that attacks the upper motor neurons. Kennedy’s Disease attacks the lower motor neurons. For this reason, I do not believe the new drug will be beneficial for those of us living with KD.

So what is the difference between the two upper and lower motor neurons? I found the following explanation to be helpful.

“Upper motor neurons originate in the motor region of the brain stem. They are not responsible for the stimulation of the muscle which is targeted as they do not carry information down to the final common pathway. They work through a neurotransmitter called glutamate which transmits the nerve impulses from upper to lower motor neurons where it is detected by glutamatergic receptors. On the other hand, lower motor neurons receive impulses from the upper motor neurons and connect the spinal cord and brain stem to the muscle fibers. They are the cranial and spinal nerves. They work by making use of the glutamate which is released from the upper motor neurons, and this triggers depolarization in the lower motor neurons. A series of actions occur which end up signalling the muscle to contract. The cell bodies of the lower motor neurons are located in the neuraxis, and their axons leave and synapse with the muscles in the body. On the other hand, the upper motor neurons synapse with the lower motor neurons as they are unable to leave the central nervous system.”

Source:  DifferenceBetween Net

Nonetheless, even if this new treatment is not the answer, it is progress and a help for those living with ALS. 

Genetics Test for ALS now available

The Summer MDA Newsletter had the following article:

“The Athena Diagnostics Division of Quest Diagnostics announced that on April 30, 2012 the first clinically available testing service designed to detect the C9ORF72 repeat expansion mutation that can cause both ALS and frontotemporal dementia (FTD). The C9ORF72 mutation was identified in September 2011 and appears to be the most common known cause of familial ALS, FTD and ALS with FTD. The mutation underlies approximately 40% of familial ALS cases, and also has been found to be responsible for about 8% of sporadic ALS. (Familial ALS refers to situations in which there is more than one known occurrence of ALS in the family; sporadic ALS refers to situations in which there is no known occurrence of the disease in other family members.)


The new genetic test is offered to help speed the diagnosis of ALS. It will be available to clinicians as a standalone test or as part of multigene testing. For testing locations, visit the National Center for Biotechnology Information’s Genetic Testing Registry at http://ncbi.nih.gov/gtr/tests/?term=C1862937.


Those considering genetic testing should speak with their physician. Consultation with a genetic counselor, who can help obtain and interpret the results of genetic testing, is recommended.”


You might ask why this announcement is important to those of us living with Kennedy’s Disease. The most common misdiagnosis for for the mutated CAG triplets repeat gene is ALS. I was one of the people initially misdiagnosed and I know dozens of others that also were misdiagnosed with familial ALS. The initial misdiagnosis of ALS has shattered many lives causing unnecessary stress and often life changing decisions. Having a DNA test that covers approximately 48% of the occurrences of ALS will help rule out that particular disorder when the doctor is unaware of Kennedy’s Disease.

Heroes for my son

Last year I wrote a few articles about heroes in Brad Meltzer’s book, ‘Heroes for my Son’.  I recommended the book because it told stories about people that many of us do not know or only know a little about.

Today’s ‘Hero” from Brad’s book is Lou Gehrig.  The story is called, “Indestructible”.   Us old timers know about Lou as one of the greatest baseball players of all times and also because of the disease that he had … ALS.  Mr. Meltzer told his story this way:

Lou Gehrig - Indestructible

 

[Despite muscle spasms and broken bones, New York Yankee Lou Gehrig played in 2,130 consecutive games over thirteen seasons. In each of those thirteen seasons, he scored 100 runs and hit 100 RBI. His batting average of .361 in seven World Series brought the Yankees six titles. It took a debilitating and fatal disease to take him off the field, and even then he wasn’t beat.]
 
For thirteen seasons, Lou Gehrig never missed a single game.  Think of it.  Think of what happens over thirteen years...
 
He didn’t miss a game when he was sick.  Or when he was tired, or bored, or not feeling right.  Not when he was under the weather, or drained, or just wanted to take a day for himself.
 
Not when he broke his thumb.  Or his toe.  Or when he suffered the seventeen other healed fractures that they found in just his hand and that they never knew about because he never complained.
For thirteen seasons, for more than two thousand games in a row, Lou Gehrig showed up, because he never wanted to let us down.
 
The only thing that stopped him?  The fatal disease that once caused his back to spasm so badly, he had to be carried off the field at the end of the ninth inning.
 


They called Lou Gehrig “the Iron Horse.”  But he wasn’t made of iron.  He was made like us.  He just didn’t let that stop him.

I consider myself the luckiest man on the face of the Earth. And I might have been given a bad break, but I’ve got an awful lot to live for.
[Lou Gehrig, farewell speech, July 4, 1939, Yankee Stadium]

Knowing the way I feel some days and how a few broken bones effected my life, Lou Gehrig’s accomplishments both on and off the field astound me.  He was an Ironman.