A Personalized Introspection, Dealing with a Genetic Disorder
Neurofibromatosis Type 1
Coping skills, is something that each one of us utilize each day when dealing with the hardships that life presents to us throughout our existence on this planet. Different people employed dissimilar actions when faced with the same issue, some people may turn to some type of religious inspiration while others will choose mind altering substances, not to face the issue but to escape the pain that it causes.
Throughout a person’s life, the ability to utilize positive coping skills will help that person avoid significant health issues; we know from research that emotional stress is often a precursor to the brain releasing various hormones that have an impact on the human body. Therefore, positive coping skills will not only ensure a healthy person, but that person will be able to deal with issues that are more difficult when they arise.
Coping skills are a methodology that needs to be cultivated in each and every person, and it often takes time for that to occur, staring when a person is in the pre-pubescent stage through adolescence and eventually adulthood, during each stage of growth comes different stress that need to be dealt with, this is where positive coping skills are best employed, but they also the person to have an encouraging on life and are less likely to depend upon psychotropic medications to deal with minor issues. (Berk, 2010)
I would like to introduce a theory that I personally have experienced using positive coping skills when dealing with a life-threatening illness not only in my own life but also more importantly in the life of a young defenseless child.
My son suffers from what may be considered a terminal illness, neurofibromatosis; I would like to share with the reader the survival skills that we as a family have used since my son was very young and the various techniques we have tried to actively apply in our daily lives.
I shall start with a personalized and chronological history of this disorder, because I also suffer from the same genetic condition, so being a mature citizen (I am not old) I have had ample time to learn numerous techniques. I have also experienced numerous negative attitudes from both my family and the public, consequently I have determined that these were not conducive to a healthy life-style, spousal relationship and more importantly for the emotional connection that exists between my son and me. Then I shall explain and describe the complexities in my son’s condition.
Because the possible list of cause and effect theories on coping skills would be so extensive, I have personalized and condense the list how I have used coping skills for a multiplicity of emotions or causes and this would include relationships, depression, anxiety.
It is through adversity that a person is able to grow stronger as a person and is able to use the new knowledge to assist others as they also undo the same stressors in their life.
Finally, I will conclude with an exposition on how I have been able to use the skills that I have learned through the years, combined with my spouse’s to fashion a functioning family unit that appears to work for us.
Chronological history, Father:
I shall start by sharing a short account, which will include a part of my harrowing childhood as well as a brief compendium of my medical history. I believe has transformed me from a private citizen to a kind of professional and has allowed me to use those experiences and to become the person that I am today thus this will explain why I have made the decisions that have brought me here.
As a young child, a doctor diagnosed with neurofibromatosis type 1 when I was about two years old. Although very little was known about this genetic disorder, knowledge or education in the medical community was virtually nonexistent and it was assumed this was an automatic death sentence. My parents had started to treat me differently and even commented to my siblings, he will not be alive very long so it does not matter how we treat him.
Consequently, subsequently so little was known about this condition and since my parents were severe but socially functioning alcoholics, I was treated as if I were a burden on the family, a kind of pariah, and I often felt the rage from my so-called caretakers. Through the regular use of corporal punishment, even for the most significantly minor offense, sometimes the beatings would be short while at other times they would only end when a sympathetic sibling stepped in when they saw the blood on my back and buttocks.
As I entered adolescence, substance abuse became a regular part of my life, I grew up with it, I witnessed my family using at every family event, and even though it did not eliminate the problem, it did create a false sense of control. As I grew older, I often kept my illness secret, I did not want sympathy, I wanted some type of relief or cure to stop its progression, the pictures in all of the textbooks, the people that I saw in public in advanced stages it terrified me, and there was no escape someday I would be forced to open the door to the internal time keeper.
I think it was a combination of factors, which caused me to have so many failed relationships in my past, those dynamics being substance abuse and a real fear of being rejected because of my external physical manifestations. I was however able to have, maintained and shall forever cherish numerous relationships with women with whom I was able to establish a bond with, but they tragically lost their lives through a direct result of substance abuse. A few of these relationships ended by my own failure to recognize my own addictive personality traits and let them slip through my fingers into my past.
My son suffers from a genetic birth defect called neurofibromatosis type 1, which is generally a heredity disorder, and in his case was passed by the alleles from his father. Neurofibromatosis (NF) is a multisystem genetic disorder that commonly is associated with cutaneous, neurologic, and orthopedic manifestations. It is the most frequent of the so-called hamartoses.
I have included the following in-depth descriptions based upon my son’s diagnosis and the daily challenges he faces each day as well as the issues that arise in the familarilal environment.
NF type 1 (NF1) is differentiated from central NF or NF type 2 in which patients demonstrate a relative paucity of cutaneous findings but have a high incidence of meningioma and acoustic neuromas (which are frequently bilateral). NF1 has a better prognosis with a lower incidence of CNS tumors than NF2. However, morbidity and mortality rates in NF1 are not negligible. Some of the more severe complications are visual loss secondary to optic nerve gliomas, spinal cord tumors, scoliosis, vascular lesions, and long-bone abnormalities, which sometimes necessitate amputation.
The incidence of NF1 is approximately 1 in 3000 but the actual frequency may fluctuate, roughly fifty percent of the cases are first cases, which is a direct result of a new genetic mutation. Lifetime risks for both benign and malignant tumors are increased in NF1 affected individuals. Cutaneous or subcutaneous neurofibromas, some optic gliomas and brain tumors are indicative of the obvious nerve related neoplasms. (Health, 2013)
Adolescence for both genders probably increases the development of dermatological neurofibromas. Plexiform neurofibromas, which are historically larger, locally invasive and often represent a significant challenge to the medical team, malignant nerve sheath tumors tend to be plentiful in some patients. The malignancies tend to be associated with the larger plexiform neurofibromas and extensive peripheral nerve tumors.
Learning disabilities with or without attention deficit hyperactivity disorder (ADHD) are seen in over forty five percent of individuals with NF 1, a definitive number are also suffer from more significant cognitive difficulties which may include mental retardation. Scoliosis in NF 1 is often mild but sometimes requires corrective orthopedic intervention and a possible surgical remedy.
Bone abnormalities may not become apparent but a radiographical history is often necessary, especially of the long bones throughout the body. Congenital tibial pseudarthrosis can lead to amputation but orthopedic intervention along with therapy can often prevent this.
Hypertension can be seen at any age with patients suffering from NF 1, which requires a constant vigilance in observing the signs, otherwise vascular stenosis may affect the kidneys and other organs, which can result in death. (University, 2013)
NF 1is an autosomal condition caused by the decreased product of the protein neurofibromin, which has an acknowledged tumor suppressor function. The NF 1 allele has been contained to the long arm of chromosome 17; more than 250 mutations leading to protein shorting have been recognized in patients with NF 1. (Susanna N. Visser, Stephen J. Blumberg, Melissa L. Danielson, Rebecca H. Bitsko, & Michael D. Kogan, 2013)
Interpersonal relationships are the cornerstone of a healthy life, whether or not we are currently engaged in one they are almost certainly a constant thought. A significant number of people who are actively involved in a relation, me included are going through a significant amount of emotional discomfort, whether it is the obstruction of expressive feelings or anger. By effectively dealing with these issues through positive coping abilities, you start to mature into an emotionally stronger person that is able to enjoy life to its fullest.
I have found that fear is a preceptor in virtually any relationship, these fears may include the fear of commitment, being alone, the fear of what others may think (perhaps you will be perceived as a failure), the fear of abandonment, or in my particular situation the irrational fear of the safety of another. This fear directly relates to the safety of my son and his current medical (cognitive) condition.
Relationship uncertainties can paralyze individuals and their capabilities both in their professional careers and more importantly in their emotional growth as a human being. This inertia will directly negate any positive attributes in regards to empathy and compassion in most cases.
While dealing with these important issues the parasympathetic nervous system is placed into an overdrive status as the person learns to deal with the powerful flight or fight condition. Conflict resolution is also important because by refusing to deal with the present issues, resentment grows within the person and apathy begins to find futile ground for growth, which will eventually lead to hate and vindictiveness.
As with any relationship the people involved need to actively, communicate with each other on a daily basis and be open to change, as well as accept when they are wrong.
As I try to communicate with my son and discuss his condition, the topic is often over shadowed by the suggestion that it is my fault that he is ill, as if I intentionally caused this infliction. On the other hand, perhaps it was some type of sinister plot that my family had concocted years earlier. This attitude of often perpetuated by his mother, but I often interpose with a healthy dose of reality and the fact that I would never do anything to cause him or anyone else for that matter any intentional harm.
My son often does well when dealing with the daily issues with NF, although some days are better than others he does try hard.
As I read the textbook, Lifespan Development, Laura Berk discusses some very poignant issues, which allowed me to contemplate some of the problems, which I have faced past and the decisions that I made as a result. Although I cannot go back and change those resolutions, I know that I have undoubted caused a lot of women emotional pain which I shall be forever remorseful for, I can use those experiences a valuable teaching tool for my son so that he will not make the same mistakes. (Berk, 2010)
After my son was born the relationship status between my wife and I changed dramatically, the first stage of change began gradually when we went from passionate lovers too soon to be expectant parents of a wonderful new life. We were very excited; I had at that time discussed with my girlfriend briefly the genetic condition, which I had, and the possibility that it could be passed on to our unborn child.
Our son was born into this world in the late fall, it was both an exciting day full of anticipation and anxiety, there were complications from the start, little did we know how serious they would ultimate be.
My family, which is quite large however proved to be a disappointment, they never really accepted OUR SON, and although they were polite, I felt as if he was being treated as an outsider. This treatment continued until recently, when they finally realized the seriousness of his condition, and they started to inquire about doctors and so on for their own grandchildren and they actually expressed concern, it almost caused us to say it is fifteen years too late.
Because of our son’s medical condition and numerous doctors’ appointments, we as a couple has not been able to have any intimate time alone in quite a long time, unless he is sleeping he tends to monopolize our time. His behavior (the tumors in the right frontal lobe) is rather intense and might be indicative of a schizoid type disorder although he has not been actually diagnosed as of yet. My son has never spent the night away from us and the only separation is when he is attending school, he has never taken a school bus and needs assistance with virtually every daily activity (ADL’s).
My wife and I have consequently placed our relationship on hold, with the primary focus on our son, I as the breadwinner; she did work outside of the house for a period while I was unemployed, I guess our relationship has morphed prematurely from a stage of passionate love into a latent stage of companionate love that lacks intimacy.
Someway, somehow we are making this relationship thing work, while she stays home I go to work and school and admittedly I work a lot and I seem to stay away from the home a lot but while I am home, I tend to focus on my son and trying to be a father and a pal and I ignore the husband aspect of family life. Since we are two very different people, we never go anywhere as a family, sometimes we do go to the market but that often ends in disagreements so I avoid it.
Each one of us stays in the relationship, using our son as the common bond, each fulfilling a matrimonial agreement that may be obsolete, but the mental health of our son takes precedence. Therefore, we are constantly taking our son to his appointments, with his mother doing virtually of the work there and I am the person that works outside of the house.
I still try to actively engage my son in learning activities, lifespan growth and development as Berk wrote, there are so many things outside of the house that our son will never be prepared to undertake or handle, all I can do is to try to teach him right from wrong and how to participate in interpersonal relationships with others including women. This of course includes accepting others as they are and respecting them as individuals.
I have included depression in this essay because I feel that at times, it has affected all of us within the family unit and each of us has tried to deal with it differently.
Depression can be extremely nasty in interpersonal relationships, regardless if it is between spouses, parent children, siblings, man and girlfriend and even in platonic connections. Studies have indicated that the number reason why people miss work is a direct result in dealing with depression; this may be an underlying cause with substance abuse and or somatoform conditions where people are unable to pinpoint an exact cause.
Depression if left untreated can be fatal; however, there are effective treatment plans available.
When faced with a potentially fatal condition such as NF 1, there are certain emotions that seem to resonate every day, those being miserable, and inability to enjoy daily activities, loss of interest in things that used to bring happiness and most importantly feeling guilty (hopeless) about some other person’s illness.
Rather than to accept things as they are, we try to assimilate blame to another person because we for some reason are incapable of understanding, why did this happen to me or my child. This is why some type of open communication is helpful and by keeping silent the seeds of discontent and resentment have a fertile breeding ground to grow and possibly cause the relationship to self-destruct. (Fizel, 2012)
Anxiety is a normal human sensation that we all encounter. However, when panic and anxiety symptoms accelerate into anxiety attacks and panic attacks, it may be an anxiety syndrome. Anxiety disorders include generalized anxiety disorder, social anxiety, and panic disorder.
Some of the following things have caused anxiety within our relationship, financial stress, work, school, but more importantly the stress in dealing with my son’s medical condition. We learned as parents that we needed to separate the real risks that were affecting our relationship from the perceived things and accept the facts.
We challenge ourselves on a daily basis, what the thoughts mean and if they are counterproductive to a healthy life style and relationship and we then differentiate, what needs to be discarded and what needs further examination, after all we need to be able to stay focus on the quality of life for our son, period.
By learning to relax through relaxation techniques, we are able to keep in control; I will often turn to exercise or WORK, which I find helpful, some may think I am hiding from the issues, but it works for me, whereas my spouse will often utilize her television shows and her friends.
In dealing with the frailties of interpersonal relationships, one of the most proactive approaches is the ability to develop outstanding listening skills, especially when dealing with a child with special needs. While the needs of the child are paramount, the primary caregivers cannot neglect their own mental health by ignoring their own desires and expectations that accompany any relationship.
We have made an effort to find out as much as we can when it comes to Neurofibromatosis; this is accomplished through the internet in research, chat rooms as well as extensive physician visits. Also by community involvement, summer camps and a constant vigilance that there will be a cure someday, hopefully before it is too late.
We have also agreed to make an effort on taking care of our relationship through open communication and allowing each other to honestly express how they feel, at the same time we have also agreed with our son that we will discuss any and all options with him that involves treatment, including surgery whether it is an accepted practice or it is in a clinical trial.
While our life is far from normal, we have accepted that what we have is OUR normal, our son has NF1 and we may lose him at any time, so we try to keep our spirits up and our relationship on an even keel. Our son has everything he needs and many of the things that he wants, but I believe that it is the intangible things that we give him on a daily basis that will endure forever.
It seems that each day or so brings a new malady to my son, the tumors are growing and becoming more pronounced, as the ravages of puberty take its toll on our family, the ADHD, and numerous other issues, we somehow manage to make it all work. Each one of us has been assigned a roll within the family unit and we are dependent upon each other, while it seems extremely dysfunctional to me at times, outside observers wonder why we are still married, we make it work. For all of that I would not trade it for anything, but I am ready to take a break from the extreme amount of adversity and have a “NORMAL” year.
Baker, D. J. (2013, February 26). DSM-IV . Retrieved from DSM-IV (Text Revision) Definition: https://www.msu.edu/course/cep/888/ADHD%20files/DSM-IV.htm
Berk, L. (2010). Lifespan Development. Boston: Allyn & Bacon.
Fizel, D. (2012, November 11). American Psychological Association . Retrieved from Anti-Gay Aggression: Expressions of Hatred or of Perceived Cultural Norms? : http://www.skeptictank.org/hs/aggay1.htm
Health, N. I. (2013, April 19). Medline Plus. Retrieved from Neurofibromatosis : http://www.nlm.nih.gov/medlineplus/neurofibromatosis.html
Kilmartin, C. (2012). The Masculine Self. Cornwall-on-Hudson: Sloan.
Susanna N. Visser, M., Stephen J. Blumberg, P., Melissa L. Danielson, M., Rebecca H. Bitsko, P., & Michael D. Kogan, P. (2013, February 27). Centers of Disease control and prevention. Retrieved from Attention-Deficit / Hyperactivity Disorder (ADHD): http://www.cdc.gov/ncbddd/adhd/medicated.html
University, J. H. (2013, April 21). What is NF1? Retrieved from Childrens Tumor Foundation: http://www.ctf.org/Learn-About-NF/What-Is-NF.html
I ran out of space, about the numerous times when I was sexually assaulted, that would take up another 50 pages or so, it is amazing what kind of things a 4 year old remembers, part of my life was stolen from me because of that person and indifferent parents, but somehow I survived and through my coping skills I am a stronger person