Introduction: Ronald Charles Blocher
William Butler Yeats once said:
Since I was a kid I’ve found this quote foolish, and as an introvert, I find it incredibly stressful. I’ve always been shy and prefer to be approached rather than be the one to approach. Nevertheless, growing up, this has been a message my grandfather consistently instilled in me. All because he has truly never met a stranger.
Regardless of where Ronald Blocher is, there is always a friendly face pleased to see him or someone new blushing from their first interaction with him. Employees at restaurants, families at the grocery store, even neighbors far down the street know him by name.
His favorite activity is meeting new people, his charm makes men admire him and ladies adore him - much to my grandmother’s chagrin. But people can’t help, it is just so easy to love him, and there is so much to love about him.
As his granddaughter, the things I love and admire about my grandfather involve much more than just what strangers see. It’s easy to see his charm and suave, but to know my grandfather was knowing more than just his charm.
Strangers don’t see how crafty he is; how he is smart and inquisitive, which allowed him to build and fix numerous cars and air planes over his lifetime.
They don’t know how complicated his family history is, or that he managed to smile throughout all of the conflict and challenges.
They don’t know his love of music, mostly his love of Crystal Gayle - or the fact that he mostly loved her hair.
But most of all, they don’t know how much he loves to dance.
If there is music, my grandfather is up and moving. He can be a gentleman and lead a woman in the fox trot, but his more characteristic dance move involves loose flowing motions typically accompanied by his daughter, my mother, Victoria Blocher Willett. And they were always dancing.
They danced to records in the living room when my mother was a child. They danced in the car when my mother got her license. They danced while he taught her how to cook. They danced at my mother’s wedding. But the last time they danced was in 2012 during my Debutante Ball, and his dance moves were not as fluid as before.
My grandfather does not dance much anymore. Not because he doesn’t want to, but because his muscles won’t allow him to. Sadly, his last dance with my mother would be the last time he stood.
Just days after the Debutante Ball, my grandfather suffered a major fall. The first to the start of many. His muscles were weakening at an unusually rapid rate and we were unsure why.
After his fall, my grandfather suffered bumps, bruises, and a serious brain bleed. But these injuries were not the worst result of the fall. After looking over his charts, doctors broke the news that there was a serious problem. This wasn’t a huge shock, my grandfather was a dancer, so we knew clumsy feet were not the cause of his falls.
Before 2012, my grandfather was many things: he was lively, he was independent, he was the best dancing partner. Now, things are different.
He is a patient.
He is a statistic.
He is a victim of a rare form of ALS.
Amyotrophic lateral sclerosis, commonly known as ALS, is an incurable neurodegenerative disease that impacts the nerve cells in the brain and spinal cord.
Motor neurons are responsible for communicating messages from the brain to the spinal cord; the spine then sends those messages to the muscles. However, with ALS, the disease weakens these neurons and eventually causes them to die.
When the motor neurons die, the brain can no longer control muscle movement. This inhibits a person’s ability to voluntarily move their muscles, which may cause them to lose the ability to eat, speak, move, and even breathe.
But most cases do not begin with such extreme symptoms - in fact, ALS can be detected before any major symptoms are shown at all through a series of tests for diagnosis.
ALS is diagnosed through a number of ways; this is because there’s no singular test that diagnosis ALS. Instead, several tests are performed and analyzed. This includes:
- Electromyography (EMG) and nerve conduction velocity (NCV)
- Blood and urine samples that are analyzed for thyroid hormone levels, heavy metals, and serum protein electrophoresis
- Spinal taps
- Muscle and nerve biopsies
- Neurological exams
In addition to a lack of solo-testing for ALS, numerous tests are needed for diagnosis because there are a multitude of diseases that have similar symptoms of ALS but are treatable, unlike ALS. Due to the uncertainty of test results, it is often recommended that those with ALS seek a second opinion.
For my grandfather, he received two, three, even four opinions about his diagnosis before he began to accept the fact his muscles were degenerating. This reality initially came with feelings of anger and frustration for my family, but this was shortly accompanied by fear - we didn’t know whether to blame my grandfather’s genetics or his luck for the disease.
Causes of ALS
ALS can be contributed to one of two things: genetics or random acts of bad luck.
About 10% of patients suffering from ALS are one of many family members who have the disease. When ALS appears to be genetic in nature, it is called Familial ALS. From this perspective, it is thought that gene mutation has occurred within a family’s DNA that has caused the individual to be more susceptible to ALS. However, most cases of ALS are not genetically linked.
The most common form of ALS is called Sporadic ALS. This accounts for about 90% of ALS cases, and the cause of their disease is considered to be random. It should be noted, however, that random diagnosis of ALS does not mean it is contagious. As a neurodegenerative disease, interacting with an ALS patient will not “rub off” and make you susceptible.
Instead, the “random” causes of ALS are currently attributed to a chemical imbalance in the brain of glutamate, a chemical that can be toxic to nerve cells when it is in excess. Another possible explanation is that a person’s nerve cell proteins accumulated too fast and in excess. This accumulation ultimately leads nerve cells to die. Although these ideas provide some explanation for Sporadic ALS, doctors are still unsure why certain individuals are diagnosed with ALS over others, and the current scientific evidence available does not lead to any possible conclusions. The only concrete information known about ALS is who currently has it:
- Men are 20% more likely to be diagnosed with ALS than women.
- Military veterans, particularly those who served in the Gulf War, are approximately twice as likely to develop ALS.
ALS commonly occurs in individuals 40 to 70 years of age, but it can occur in an individual's 20s and 30s as well.
- About 6,000 people are diagnosed with ALS each year in the United States - this is 15 cases per day.
- ALS is prominent around the world and appears to have no racial or socioeconomic boundaries.
The above facts have received scientific consensus, but one of the most complicated statistics currently being studied and disputed is the time table for those struggling with ALS. How long one lives with the disease is a scientific mystery.
The average rate of decline is between three to five years after diagnosis. After this time, patients either remain in a vegetated state or pass away. However, others have proved to live 10 years or longer after diagnosis and, although their muscle movement is close to none, they continue to live everyday lives with the help of family and heavy doses of medicine to help reduce or slow symptoms.
There is no treatment or cure for ALS. Once diagnosed with the illness, there is little doctors or family can do to stop it. The only available resources for patients is in the form of blood thinners, symptom-reducers, and family support. In the last few years, though, doctors have introduced a newer drug called Rilutek. Although the drug has had varying success among patients, it has given many families and patients hope.
This drug inhibits the release of glutamate, the chemical in the brain that surrounds the spinal cord, which aids to prolong life for certain ALS individuals; however, the drug is not successful in all patients and even if it is, the extent to which it prolongs life is relative to each individual.
Although ALS was discovered by French neurologist Jean-Martin Charcot in 1869, ALS did not receive much attention until 1939 when Lou Gehrig, a renowned baseball player for the New York Yankees, was diagnosed with ALS.
After experiencing extreme muscle atrophy during one of his final games with the Yankees, where he could not even hold a bat, doctors from around the country fled to his side in order to analyze the young baseball player. They discovered his symptoms were unsettlingly similar to ALS.
The news broke the heart of many New Yorkers. But their hearts only continued to break when he died just two years later as a result of the illness. He passed away at a young age of 36.
Gehrig’s case of ALS is one of the most famous and shortest. As previously mentioned, people with ALS commonly live from three to five years after diagnosis, but Gehrig lost his battle fairly quickly.
As a famous baseball star and one of the earliest studied cases of ALS, Gehrig has become the face of the disease: Lou Gehrig’s Disease is now synonymous with the term ALS.
But not all ALS patients experience the degeneration as quickly as Gehrig did. There are, after all, many variations of ALS. The disease can progress as quickly or as slowly depending on the person.
In the case of Professor Stephen Hawking, the famous British Scientist, his experience with ALS has proven to be much longer than Gehrig’s. Hawking was diagnosed with ALS when he was 21-years-old, also after experiencing rapid fatigue and muscle depletion. After his diagnosis, doctors estimated he had about two years to live.
Today, Hawking is 74-years-old with three healthy children and grandchildren, and he has become revolutionary in the field of science. Although his muscle movement is close to none, he continues to contribute to scientific discovery and give speeches around the world.
How quickly ALS affects a person is truly a matter of luck. Those like Gehrig who succumbed to the disease quickly can be considered the unlucky, but clearly, Gehrig did not perceive his life that way. Similarly, Hawking does not feel as though he is held back by his disease. Instead, he continues to live a full life with family and loved ones, in spite of his disease.
I tend to believe those who have ALS are selected for a reason - they must be the strongest, the kindest, and the most optimistic. They have to be. You can’t survive such a horrible condition if you’re not.
My grandfather is no exception, he is certainly a lucky man and one of the most joyful ones. Five years after diagnosis, he is in better condition than most and is constantly surrounded by loved ones. But like most diseases, there are highs and lows. There have been highs, but there have also certainly been lows.
As a lucky man, my grandfather is also fortunate to not have a clear-cut case of ALS. He specifically has a motor neuron disease that doctors say is similar to, but is not exactly ALS. His condition is quite unique.
Although technically his disease is not considered to be a complete form of ALS, his deterioration and progression have been similar to that of an ALS patient and treatment is prescribed as so.
Like ALS patients, his muscles have progressively weakened throughout the years. This has made everyday tasks particularly challenging. So in an effort to remain in his two-story house, the same house my mother grew up in, extensive adaptations and changes had to be made.
Perhaps one of the most difficult change to the house has been the sleeping arrangement. Although much of this process has been difficult for my grandmother, this particular aspect has been the toughest.
But these modifications were only the beginning. As time went on, more help was needed outside of my grandmother; more help than what a chairlift could offer; and safer transportation than what a walker could support.
As he continued to weaken, he needed an aide - someone who could be at the house five days a week to help him throughout the day. So in 2014, Karen Nedd began working with my grandfather. As an independent and strong willed man, my grandfather was initially very reluctant to have help, but his feelings soon changed when he began working with Ms. Nedd. He did need her help, but he quickly realized that he loved having her to help him.
The two to nearly everything together: they run errands together, get meals together, and - my grandfather’s personal favorite - they get in trouble together. This typically includes disturbing other tables at lunch due loud laughing or getting ice cream even though my grandmother said they couldn’t. My grandmother often refers to the two as Bonnie and Clyde. Like I said, my grandfather has never met a stranger.
But there are both positive and negative aspects to working first hand with my grandfather as a friend and healthcare professional. From a medical perspective, Ms. Nedd can watch his regression and adapt to the amount of help he requires easily. But as his friend, Ms. Nedd has had to watch his deterioration and work to avoid expressing personal emotions about his illness, which is far more difficult.
Now a major part of our family, Ms. Nedd has been through the highs and the lows with us. We thought the first few years of dealing with the illness had been his ultimate low in terms of his health. Recently though, the low point has gotten lower.
Unfortunately, after another major fall on Christmas Eve 2015, his deterioration became much worse.
A fall for an elderly person is dangerous in itself. But for an ALS patient, the effects are amplified exponentially. For my grandfather, the fall on Christmas Eve resulted in another major brain bleed, which forced him to miss Christmas day and become hospitalized. He has moved from hospital to hospital ever since.
It has been a frustrating process for both of my grandparents. And as a typically optimistic person, my grandfather began having more frustrating days.
However, his frustration has begun to melt away in his newest hospital location: Rockville Nursing Home. Here, my grandfather has had ample support and numerous outlets to aid in his recover and strengthen his muscles.
Hospital Support for Patients with ALS
He is working with several trained professionals that understand his muscle deterioration: a physical therapist, an occupational therapist, and a speech therapist. Although there is a lot of hard work involved, certain parts of physical therapy are actually enjoyable. My grandfather loves any excuse to get to know more people and receive a massage.
The physical and occupational therapists work with ALS patients to use alternative muscles to perform every day functions. As the disease targets one muscle, the professionals work to build up the strength in other muscles to compensate.
With ALS, the muscles that control mouth movement also begin to weaken. When this begins to occur, the speech therapist is in place to help exercise facial muscles and build strength.
In addition to the physical help required for ALS patients, hospitals also institute social workers to work with patients and their families. These professionals work to help family’s plan for the future and make any current situation comfortable and beneficial. For my grandmother, the social worker’s role has been crucial for planning out her next step, whether that means more home renovations or a new home entirely.
The transition to his recent location has resulted in returned optimism in my grandfather. It is easy to once again see my grandfather’s whit, his charm, and his up-beat personality.
Therefore, it’s no surprise to my family that he has managed to make everyone at the hospital adore him. But it was a surprise to my family to see how much he has improved since working with the staff. He has performed physical therapy before, but never with professional who are specifically trained to help those suffering from ALS.
Although the accommodations to the house made life easier in the beginning, his condition has become weaker. Now, he needs more resources, more help, and more support. A concept my grandfather is beginning to accept as reality. Something Ms. Karen Nedd, my grandfather’s in-care helper for over three years, has seen as a change.
Before coming to Rockville, my grandfather was reluctant to accept help, even the disease itself. But now, Ms. Nedd says his perception of the disease has gotten “better,” which has also improved his attitude on life and how he is approaching his situation.
But my grandfather is not the only person who has had to directly accept the reality of his disease. The situation has also been taxing on my grandmother. It is never easy to watch a loved one suffer, especially when you feel powerless in your ability to help.
It has been difficult to speak about the topic with either of my grandparents in the past--understandably so. Only recently has the situation become more of an open topic.
Although the situation has been tough on both of my grandparents, ALS has not just weakened my grandfather’s muscles--it has strengthened his friendships, his love for his wife, and his love of life. Additionally, more recently, the community has also become a source of support. Not just to my family, but the entire ALS community.
The ALS Ice Bucket Challenge began the summer of 2014. The Challenge involves people nominating their friends to dump a bucket of ice water on themselves. If the nominated person accepts, they must perform the challenge then nominate their friends to also dump a bucket of ice water on themselves. If the challenge is refused, the person nominated is inclined to donate money to The ALS Association.
Over the summer alone, 17 million participants upload their videos to Facebook. The videos went viral; they were watched 10 billion times by 440 million people.
Individuals from all over the world, including celebrities, participated in the Ice Bucket Challenge. Stephen Hawking was among one of them. However, because he is hooked up to a wired computer, his family did the honor of pouring water on themselves.
My family did not miss the opportunity to become involved either.
Each member of my family dumped one bucket of ice water in honor of my grandfather’s rare form of ALS. We also donated to The Association.
From the ALS Ice Bucket Challenge, global awareness has been brought to a cureless disease that affects many Americans. It also managed to raise $220 million globally.
From this money, The Association has been able to add new programs, collaborate on a greater scale, and accelerate the timeline in which treatment can be developed.
As an enormous success, the Ice Bucket Challenge is now an annual event that will occur every August until they find a cure.
If you or a loved one have been personally affected by ALS or if you know someone who is currently suffering, every donation helps to find a cure.
The Ice Bucket Challenge is a great way to raise awareness for a seemingly forgotten disease. Personally, it instilled hope in my family and made the community feel closer.
It is great to have more support from the community as a whole, but the community of people who have consistently surrounded my family since the diagnosis of my grandfather’s disease have always been a source of hope and love.
Since the past two years the Ice Bucket Challenge has circulated the globe, there have been thousands of dollars poured into research for cures, treatment, and proper diagnosis for ALS. Much of this money went directly to the ALS foundation, however, money was also invested in private research. The mass circulation of funding has been widely appreciated by the scientific community, and in order to articulate their appreciation, many research firms have dedicated their time and effort explicitly to ALS research. And, as a result, on September 21, 2016, a research facility out of China may have found a new hope in the ALS community.
According to research published in BMC Neurology, a peer-review journal that specializes in research on “prevention, diagnosis, and management of neurological disorders,” researchers may have found a way to correctly diagnose ALS. In an “Assessment of multiple biomarker panel for diagnosis of amyotrophic lateral sclerosis,” by Xueping Chen, Yongping Chen, Qianqian Wei, Ruwei Ou, Bei Cao, Bi Zhao and Hui-Fang Shang, these researchers have discovered certain molecules in the human body that point to an accurate diagnosis and progressive track of ALS.
The molecules that have become so important in this new research are scientifically referred to as biomarkers. A biomarker is a “measurable substance that changes in quantity or that appears or disappears with a change in the body’s state.” In other words, a biomarker can be used to determine certain chemical makeup of a disease. A biomarker can be measured through tests on a patient’s blood, urine, or cerebral spinal fluid (CSF).
The newest research on ALS has identified that studying CSF – fluid that is found in the brain and spine and acts as a lubricator and protector of these areas – holds certain molecules that could serve as biomarkers of ALS. Specifically, the elements pNfH, S100-β, cystatin C, and CHIT found in CSF were analyzed to see if their measurements correlated to the progression or identification of a patient with ALS.
Methodology and Statistics
In order to evaluate these molecules, researchers began by studying the molecules in the CSF of 40 male patients between the ages of 52-53 who were diagnosed with what doctor’s perceived as ALS. Next, researchers gathered 40 other patients who were the same age and sex as the patients with ALS, but who did not ALS; instead, these patients were diagnosed with other neurological diseases similar to, but not ALS.
Researchers tested each patient’s CSF using a procedure called a lumbar puncture. This process takes a needle to the lower back in order to extract spinal fluid. Additionally, researchers used an enzyme-linked immunosorbent assay, more commonly referred to as ELISA. ELISA was used to discover and measure each element of the patient’s CSF.
Findings from both tests articulated that CSF levels of pNfH and CHIT were dramatically higher in ALS patients than others. Analyzing these two elements together allowed for a more accurate diagnosis of ALS patients than those who did not have ALS.
Furthermore, ALS patients showed lower levels of Cystatin C and S100-β did not appear to be effective in differentiating between ALS and non-ALS patients.
This study ultimately discovered that high levels of both pNfH and CHIT are “neuropathological hallmarks of ALS,” as they improve the accuracy of diagnosis. Although together, these molecules increase the likelihood of proper diagnosis, the most accurate biomarker appears to be pNfH. This molecule not only aided in the diagnosis of ALS patients, but the amount of pNfH also illustrated the disease’s severity and progression in a patient. With such promising evidence from pNfH as a well-round object biomarker, further research should be able to one day confirm its presence as a diagnostic tool for ALS.
Why is this Important?
Although there were limitations within this study, one being that the sample size is very small, the results found are very promising. Just from this small sample, researchers were able to more accurately distinguish between ALS patients and non-ALS patients, receiving a better rate of accuracy than most doctors have been able to obtain in years past. Accurate diagnosis is just one of the many functions a biomarker could fulfill:
- Although ALS has no cure, identifying ALS biomarkers could allow a patient to have a faster diagnosis and, therefore, more time to seek out treatment and slow the progression of the disease.
- A clear diagnosis of ALS would also allow for scientist’s to track the disease's progression within patients and record their success with certain therapies or drugs.
- One of the most important opportunities objective biomarkers would allow for is the ability for ALS patients to participate in clinical trials. Currently, hundreds of individuals with varying neurological disorders participate in ALS-centered clinical trials – my grandfather is included in this number – but because the test subjects are so heterogeneous, the trials are usually not very effective. With a homogenous group of pure ALS patients, there is an increase in the likelihood of finding a cure.
Ultimately, this discovery is the first in a number of years to provide a sense of hope to those in the ALS community. A clear diagnosis is the first step that could lead to a cure, to preventative techniques, and to united families who are unscathed by the destruction of ALS.
Hope has spread deeply into my family these last few years - beginning with the Ice Bucket Challenge and as recently as a few weeks ago when we were celebrating the news about a possible biomarker for ALS. The hope that the larger ALS scientific community has instilled in our hearts has been overwhelming. But not just because of the national ALS community, the local ALS community has truly been the most supportive part of our journey.
At Rockville Nursing Home where my grandfather has resided for quite some time now, the care physicians there have been vital in my grandfather’s journey. Their support and kindness to my grandfather has left my family feeling great appreciation for the medical community. Although the facility and those who work there have been incredibly helpful, no one is more a part of our family and appreciated than the first person to come and help my grandfather: Ms. Karen Nedd.
To my mother, who is an only child, Ms. Nedd has helped her cope with the stress of an ill parent and has been supportive and helpful in making tough decisions.
To my grandmother, Ms. Nedd gives her a sense of security. As long as Ms. Nedd is around, she knows my grandfather is in the best hands.
For my grandfather, well, Ms. Nedd is the Bonnie who makes him still feel like Clyde. No matter his condition. The relationship they have built with each other is something that does not need to grow, it has already been in full blossom.
It has also strengthened the relationship between my grandparents. It has not only allowed them to realize how much they love each other, but it has also illustrated my grandfather’s true character as a brave and optimistic individual.
Although he is more optimistic than most, he still resembles many characteristics of other ALS patients: his muscles are weak, he needs help, and he is now a statistic.
Every day, an average of 15 people are diagnosed with ALS. That adds up to over 5,600 people a year. My grandfather was one of those diagnosed patients five years ago.
Today, he is one of the estimated 20,000 plus Americans currently living with ALS in the United States.
It has been a difficult situation for both my grandfather and my family, but there is hope in new research and modern science that ALS will not be the cause of suffering much longer. My grandfather is actually a part of a research study right now that is studying his progression and will use his data to help further ALS related science in the future.
But at this moment, my grandfather’s motor neurons are weakening and dying. His muscles are becoming tired. He is becoming tired.
But I know my grandfather, I know he will continue to work hard and be optimistic.
And I know for sure he is not done dancing.
For more information regarding ALS, feel free to visit any of the below websites.
Johns Hopkins Medical Center
Johns Hopkins Medical Center provides a short and concrete list of symptoms, causes, and treatment of ALS. This page provides numerous statistics that can be helpful in understanding the variety and range of ALS. Furthermore, if you know someone with ALS or is showing symptoms of such, you have the ability to schedule an appointment.
I am impartial to Johns Hopkins as this is the hospital where my grandfather first received diagnosis and treatment. They treated him very well here.
The National Institute of Neurological Disorders and Strokes
The National Institute of Neurological Disorders and Strokes also provides a great informational sheet that provides a basic understanding of ALS. There are four sections that describe the disease and it also includes clinical trials performed by the institute.
For information specialized in clinical trials, the institute is a great resource. They offer three different resources for studying clinical trials: one specialized at NIH centers, NINDS specific clinical trials, and trials that are currently going on around the globe.
The ALS Association
One of the most obvious places to seek out information about ALS is the ALS Association.
In order to see the most information about ALS, this website is the best place to look. Their information about ALS is not in the form of short summaries, but rather several pages worth of information.
What is truly amazing about this site is that it offers support and assistance through support groups to those who know someone or those who are suffering from ALS. Therefore, this website is more than just information, here you can find a community of individuals who understand ALS in both a medical and personal manner.
The new research that has indicated the existence of a new biomarker for ALS was found in BMC Neurology. This journal is a peer-review journal that is specialized in research on “prevention, diagnosis, and management of neurological disorders.”
In order to read the exact data and study referenced in the text, called “Assessment of multiple biomarker panel for diagnosis of amyotrophic lateral sclerosis,” by Xueping Chen, Yongping Chen, Qianqian Wei, Ruwei Ou, Bei Cao, Bi Zhao and Hui-Fang Shang, view the link attached here.
Although this source sounds silly, Kids Health is a great resource in order to obtain an introduction to ALS. Because this website is geared toward educating children, the information is very accessible and even provides knowledge about ALS in regard to children. As mentioned, Lou Gehrig was one of the younger patients to suffer from ALS, and although it isn’t common in children, it can happen to anyone.
This resource is also effective at translating this information to children. As most individuals who develop ALS are in their later years, patients with ALS are often grandparents. If someone needed assistance explaining to their grandchild or child what the disease was, this would be an excellent site to gear them toward.
Ask your Doctor
Additionally, asking your primary care physician any questions about the disease is always an acceptable course of action. A doctor will understand the basic symptoms and progression of ALS and can inform you on the topic.
A Special Thanks
A special thanks to the Rockville Nursing Home staff and my grandparents for answering my questions and agreeing to be featured in this story.