My choice to undergo genetic testing for the hereditary Neurodegenerative Disease Huntington's (HD). Was the toughest decision in my life. Consequently, reciving a positive test result was the most disheartening moment in my vibrant existence. After Palpitating with rage and wounded sensibility in response to the horrific outcome. I made the choice to fight through the struggles and re-build my soul, with the vision to help others with HD do the same .
Can N-ACETYL CYSTEINE reverse the symptoms of Huntington’s Disease?
That’s exactly what twenty members of the Facebook groupHuntington’s Disease: A Cysteine Experiment will tell you.
On or around March 14 2017 a group member Positive for the HD gene. stumbled upon an article from John Hopkins Medical Center. The research suggests Amino Acid Deficiency as the cause to the fatal HD gene.
1 in 4 people with Huntington’s Disease will attempt suicide
One of life’s greatest stumbling blocks is to continue living, when the mind turns against the desire to live, the calamity caused by that obstacle has left people believing suicide was their only option. The decision a person makes to take their own life, viewed incomprehensible by some leaves family and loved ones posed with the question of, why?
Often times the reasoning behind the act of suicide goes Unknown. It is claimed that ninety percent of individuals that commit suicide had a mental disorder at the time. (Drusst and Pincus.)
Suicide rates are highest in Huntington’s Disease when compared to other Neurodegenerative Diseases
I think people who commit suicide had the belief that they were losing some kind of battle; life in that particular moment was just unmanageable, and though I don’t agree with that as a reason for someone to end their life , I can definitely understand it, especially for the people fighting Huntington’s Disease.
Suicide 7-200 times higher in people with Huntington’s Disease HSG
I’ve said I would not write about my personal battles on this blog, but on this occasion I will. I grew up my whole life knowing I could possibly inherit the HD gene, however I lived in such embarrassment, denial, and arrogance that I believed I was bigger than Huntington’s. that the odds were more in my favor I ignorantly thought.
After many late nights of balancing on one foot, walking straight lines, and freaking out over every twitch, tingle, and spasm. every second of the day analyzed late at night. I wanted to know if my glass was half full or half empty.
The answer was revealed in a five minuet phone conversation ( not proper protocol for genetic testing of HD) my doctor confirmed I carried the HD gene. In the moments after the conversation I visually saw every building block of my life come crashing down. Every dream and hope that made up ambition were stomped out.
Right there in that moment, My future was destined to be full of nothing, so what was the point. Why should I work towards accomplishing any goals if I was just going to lose control of my body, If my mind was going to no longer be in control. Why? Why work so hard to achieve only to later be erased. I was suddenly overwhelmed by emotions to the extreme, I was angry, sad, embarrassed, I felt dirty like I was infectious. All those emotions made me feel weak as a result I wanted to inflict physical pain on someone, so they could feel my emotional pain. I regretted taking the test my life seemed so much easier when I didn’t know.
50% of gene positive individuals experience suicidal thoughts.
25% of gene positive individuals will make one suicide attempt.
10% of individuals with Huntington’s Disease commit suicide.
The Huntington’s Study Group identifies two critical points of suicide risk in HD.
Before a formal diagnosis of HD is made.
When independence becomes diminished.
In retrospect a big part of myself did die when I received the HD test results,however, I didn’t commit suicide, I had a life changing event that caused me to believe all hope was lost, I think that’s what leads people to commit suicide in general. What I found alarming is the commonalities of symptoms in Huntington’s Disease and the symptoms of a suicidal individual. In fact they are so similar I would lose track of which one I was reading about.
The CDC claims the leading Causes of Suicide are depression and anxiety. The occurrence of depression in an individual with Huntington’s Disease is estimated to increase 9- to-44 percent.
To run away from trouble is a form of cowardice and, while it is true that the suicide braves death, he does it not for some noble object but to escape some ill.
Symptoms of a Suicidal Individual:
Indecisiveness/lack of concentration
symptoms of Huntington’s Disease:
Lack of concentration
Feelings of hopelessness and desperation.
Suicide is a preventable cause of premature death in HD. Obviously not every individual with HD will experience suicidal thoughts or attempt suicide, but with the similar symptoms it may be difficult for family and friends to distinguish who’s experiencing Suicidal ideation, and who’s experiencing symptoms of Huntington’s Disease.
Huntington’s Disease: “The Cruelest Disease Known To Man”.
That’s a Bold claim, is it not? However, it’s been referred to as just that.
Often described as having Parkinson’s and Alzheimer’s Simultaneously
Can you imagine inheriting a Disease that’s described has having the symptoms of two neurodegenerative diseases at once?
When we think about Parkinson’s, we think about the motor abnormalities the things with walking, gait, balance, and tremor. When we think about Alzheimer’s disease, we think more about the Cognitive problems, the memory and some psychiatric issues. So, yes it’s sort of a combination. The thing with Huntington’s Disease is the fact it tends to occur to people early in life, their thirties or forties. Even kids and teens can have it
-Dr. Cory Bloom-
Everybody knows what Parkinson’s, and Alzheimer’s are, What is Huntington’s Disease? Usually people respond with a puzzled look of curiosity, or they get excited because they saw (HD) mentioned on Scrubs, House, or Greys Anatomy, however, Huntington’s disease seems almost forgotten like the Korean War. Desperately fighting like a middle child for its own recognition .
Huntington’s Disease Is a rare inherited Disorder. Until recently, scientists understood very little about HD and could only watch as the disease continued to pass from parent to child Huntington’s disease (HD) is a fatal disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities during the prime of their life . The disease destroys cells in the basal ganglia, the part of the brain that controls movement, emotion, and cognitive ability. HD affects a person’s ability to think, talk, and move.
What is the Basal Ganglia?
The basal ganglia are responsible for voluntary motor control, procedural learning, and eye movement, as well as cognitive and emotional functions.
The Inheritance of HD:
Huntington’s disease is an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the disorder. If a parent has the the Defective Gene any offspring have 50/50 chance of inheritance.
Gene type autosmal dominant only one parent needs to carry the gene to pass on the defective copy
The Defective Gene:
The defect is caused by a mutation in a gene on chromosome 4. Normally, the coding region of this gene contains the DNA sequence repeated again and again. The number of times this triplet is repeated varies from person to person, ranging from 10 to 26 times. People with HD have an abnormally high number of these CAG triplets, approximately 40 or more.
Huntingtin gene is responsible for making the Huntingtin protein, though found in every cell in the body the exact function of this protein is Unknown it appears to be vital for the survival of neurons and functioning of the brain.
Huntington’s Disease is living life entangled in a paradox, the more its studied, the more its unknown.
What age will a person get HD:
The rate of disease progression and the age at onset vary from person to person. Adult-onset HD, with its disabling, uncontrolled movements, most often begins in middle age. There are, however, other variations of HD distinguished not just by age at onset but by a distinct array of symptoms.
In 90 percent of cases symptoms appear between the ages 30 and 50.
Symptoms Of HD: Cognitive, Behavioral, Psychiatric, and movement
Loss of coordination
Slurred speech, eating, swallowing
Uncontrolled muscle contractions (dystonia)
Walking, stumbling, falling
Difficulty learning new things
There are Five stages of Progression:
Early Stage – the person is diagnosed as having HD and can function fully both at home and work.
Early Intermediate Stage – The person remains employable but at a lower capacity. Can manage daily functioning, with some difficulty.
Late Intermediate Stage – the person can manage household responsibilities. Without considerable help.
Early Advanced Stage – the person is no longer independent in daily activities.
Advanced Stage – the person with HD requires complete Support. Nursing care is usually required.
An individual that inherited the Defective HD gene, from a parent will slowly progress 15-20 years from the age off onset. Though HD is fatal it actually is not the cause of death.
Typically an individual with Huntington’s Disease will succumb to pnuemonia, heart failure, or asphyxiation. 10% of individuals with Huntington’s disease commit suicide.
This is the person that keeps up with all the Doctors appointments they call, the night before, mornin’ of, they even have the Doctor appointment scientifically mapped out, and when the cell phone rings as the HD patient is leaving the Doctor’s office it’s this person calling. They are constantly emailing the newest article off HDBUZZ, offering advice on how a person with HD should live, what they should eat, they keep up to date on the hottest/new homeopathic treatment options,and possibly treat somebody pyschically disabled just for inheriting the HD gene. They may have good intentions but are often too overbearing, and as the nature of their OCD becomes like a vice tightening around the skull, the HD person may want to punch them in the face.
The Overly Positive Person:
I will refer to this person as the Cincinnati Browns fan. They avoid realizing how much Huntington’s Disease can suck for someone dealing with the symptoms. They tend to be narrow minded and only understand what can physically be seen by the eye, refusing to acknowledge depression, anxiety, OCD, and the pyschicatric symptoms as debilitating issues in HD. With the peppiness of a high-school cheerleader at a homecoming football game, and with the dedication of a Browns fan they will constantly show up, halfheartedly offering encouragement to someone with HD by using catchy phrases like “you can do it, kick it’s ass, prove them wrong, It will be ok” without elobrating on what those are really supposed to mean, and lacking any substantial encouragement or advice a person with HD can be left feeling confused and frustrated; with the inclination to punch them in the face!
The Pretend Person:
This person is the one that trys to be most accomdating. They always show up to help, tend to be there for a talk, Appear to go above and beyond, however, they show up with a bad attitude, even though they’re willing to to offer support their face says they would rather be eating a taco. They tend to be more concerned with glorifying themself rather than helping, and the people with a neurodegrenitive Disease like HD can still pick up on this, and be urged to punch them in the face.
The Other Person With HD:
It’s always beneficial to talk with people that have gone through similar experiences, that can fully understand the impact of symptoms, but occasionally the conversation with a fellow HD person seems more like a try-out at a football combine. Like they’re competing against the clock in a 40 yard dash to see who will burn neurons faster. undoubtedly ones CAG count will be a focal point, like it has some sort of unchallenged supremacy. A person with HD may be inclined to answer the question of, what’s your CAG count? With F… You!! That’s my CAG. While wanting to punch them in the face.
A champion named Goliath, who was from Gath, came out of the Philistine camp. His height was six cubits and a span. He had a bronze helmet on his head and wore a coat of scale armor of bronze weighing five thousand shekels; on his legs he wore bronze greaves, and a bronze javelin was slung on his back. His spear shaft was like a weaver’s rod,and its iron point weighed six hundred shekels. His shield bearer went ahead of him.
Just like Goliath Huntington’s Disease has the power to defeat a person before a battle begins. HD has the power to control and shape an individual, as it stands before them Exclaiming it’s INCURABLE reiterating the emphasis it will attempt to seize all control from one’s mind and body, taunting them with reminders that it has the power to possiblyERASE everything they have built.It can control every aspect of life from a very tender age. IF THEY LET IT!
HD has the power to teach an individual every a emotion in life, Especially if HD has always been a part of their life. It can teach the youngest of children CURIOSITY has they go to visit a family member in a nursing home. As that child grows their curiosity can be turned into embarrassment, as their friends take notice, because that child is constantly bombarded with questions and judgement at a young age, That EMBARRASSMENTcan turn into FEARas that child gets even older, now a young teen-ager with more awareness and understanding the possibility of inheriting the defective HD gene. The fear of inheriting HD becomes DENIAL Where it’s tucked away in the deepest parts of their mind, to never be acknowledged or verbally talked about. Locked away This is where the TAUNTINGmost likely begins. Now in High-school and as their friends start discussing their particular futures and mapping out the basic structure to their own life , The teen-ager at risk of inheriting HD is always questioningthe secret they keep locked inside of them, at this point their fully conscious of HD. They’ve probably witnessed the disease progression of a loved one with HD, maybe their own parents just received a positive test for the HD gene. So, now It’s not just a Disease in the family but they’re officially at risk. That denial can becomeANGER as they start to view life as unfair, potentially causing them to put fourth less effort and ambition as their peers. As all the uncertainty of Huntington’s Disease and life barrel towards them theDISCOURAGING affects may enable lack of Motivation. Some are pushed at this point to undergo genitic testing for various personal reasons, usually DESIRE is an impacting force, often one uses genitic testing to plan life choices, for instance to have chidren of their own. Genetic testing can teach what I believe to be the true definition of HATE. some will choose to hate God, their parent that passed on the HD gene, Life, themselves for already having kids, and a multitude of other things, and that’s perfectly acceptable in that moment. It is not OK to live out the rest of life that way, it’s a disservice to themself, friends, and their family. At this point they’ve probably already learned forgiveness through some other aspect of life, when forgiveness is applied to HD that’s the point they can move on in life.Some don’t make the choice to forgive, at this point they stop living either by their own hands and through Suicide, falling deeper into depression and anxiety, or self medicating through the use of substance abuse.
It’s a well known fact the medical community will not let someone under the age of 18 undergo predictive testing, unless a healthcare provider sees it fit to test, because of a child showing the possible symptoms of JHD . There are several reasons as to why. One of them is to make an attempt to shield a child from knowning they could possibly inherit a devastating Disease like HD.
“Doug, do you have a clue what Huntington’s Disease is? Its a curse passed from generation to generation. One day you will be forced to realize that.”Anonymous
Well, let me address this!
I have been to the lowest pits conceivable, I’ve plummeted as low as a human can go. You didn’t witness my battles, You didn’t see how low I was buried, The torture, the torment, the anger. Well, let me apologize. You didn’t see those things because I FOUGHT BACK.
I made the choice one day That my war with HD would be my greatest life story. I said to myself I will use this to evolve, to grow, to be a better person. The endeavors of doing this are real. Huntington’s Disease is my training partner shoving me harder to my breaking points, asking if I’ve got the courage, the toughness, and the before character to make it Through. Well, I’ve got plenty enough, the desire, the will power, the guts, the heart, and I’ve got the purpose. I have made the commitment to use every single ounce of my strength, every single day to ensure my fight back. If there is no way, then I will make my own path, Huntington’s Disease doesn’t scare me, Huntington’s Disease drives me.
I’ve already had a REALIZATION, and I realized I’ve got ONE life to show my true character. Only ONE LIFE to give the world my very best.
Most Individuals give up their life coming up with all types of reasons how life cursed them, they didn’t get the right schooling, they don’t have the talent, they Inherited an INCURABLE DISEASE. Listen good health dosen’t guarantee you anything in this life. The world is riddled with people in perfect health that have not achieved anything of signifance. This world is full of althlets and all sorts of people that are out performed by an individual with a disabling Disease. Excuses are for the weak. It wouldn’t take you long to find a massive success story of a person with a disabling Disease or an incurable disease with a rentless desire to live. Don’t stop living before your time. Don’t let Huntington’s Disease write your story for you, Don’t disable yourself with negativity before HD becomes disabling.