Throwback Thursday: Argumentative Essay Value of Public Opinions

Throwback Thursday, where, essentially I post old writing samples, essays and short stories that I dig up from my pile of hoarded papers and school assignments or from the depths of my computer. So everyone can see how my writing has changed/improved over the years.


In America today, information and opinions can reach millions in minutes, the spread of information has never been easier; though for much of history this was not the case – the spread of information was limited to personal interactions and letters – opinions could not be easily shared.  This changes the access to, and role of, opinions in America – it does not change their worth. Opinions, ideas, thoughts, information all have worth – even if not equal in weight or worth – in a democratic nation like America. In fact, the first amendment protects the freedom of speech and expression, every opinion may not be correct or agreeable but every opinion carries worth by fostering democratic values – every voice given a chance to be heard.

Democracy relies on equal consideration to all, and acquiescence to the majority. But the majority cannot truly be found if not all voices can be heard –  this makes all opinions worthwhile in furthering democracy. This is why the very first amendment made to the constitution ensured free speech. When information and opinions spread, more can be learned. The opinion of the majority can shift – as history shows it does – on the grand scale, to progress. Accessibility of information has always been important, even back in world War One with FDR’s Freedom of Information Act – the keeping of information and opinions aids no one. If an opinion is wrong or infactual, by being voiced and listening to other voices, progress is made as people can learn. When wrong or unfavorable opinions are not allowed to be expressed, there can be a bias – progress can standstill when discussion is curtailed. Those with factually wrong opinions never have a chance to be corrected and wrong information continues to fester and influence. Though often, there is no possible objective truth, the truth in democracy is the will of the majority – which cannot be reached if all opinions are not considered worthwhile, even if to varying degrees, no opinion is worthless.

The first amendment shows a central tenant of democracy – if public opinions are stifled, democracy is stifled. But there are always considerations to be made – some statements are not permitted by the freedom of speech, as established by the supreme court with the “clear and present danger” clause – you cannot shout “fire” in a crowded theater for example because of a physical safety hazard. With public opinions, there is a greater threat in preventing opinions than in allowing them. Especially in today’s world where opinions are shared on social media – physical safety is not the primary concern. Whether an opinion is personally deemed worthwhile or not, in general, public opinions are worth something because they further the conversation and can influence or add to change the majority – which is how democracy functions. By allowing the spread of ideas, the change of ideals, and the voices of all to determine the majority is how democracy functions.

Public statements of opinion have differing value based upon the value assigned by the person hearing the opinion – but all opinions do have value, have worth – even if not equal worth. They have worth, because every voice must be heard – allowed to speak – for democracy to function – because hearing every voice is how the majority is found and allowing every voice to be heard is one of democracies central tenants.

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Throwback Thursday: Color Your World

Throwback Thursday, where, essentially I post old writing samples, essays and short stories that I dig up from my pile of hoarded papers and school assignments or from the depths of my computer. So everyone can see how my writing has changed/improved over the years.


 

In kindergarten, there was only one debate bigger than “Crayola v. Rozart” (and really, everyone knows that Crayola is the winner there). That argument is, of course, “what color is this?” Common contenders of this fight are:  red/orange and blue/green, both of which probably have actual names that no one uses. But the argument, actually more like all out war, of my kindergarten class was over a color from the Rozart box, called Orchid.

Orchid is this pink/purple color that was a favorite among the girls of the class. Of course, because no one could read, no one knew it was called Orchid, so we all called it pink or purple depending on the side of the argument you fell on.

I was firmly entrenched in the belief that it was purple. My kindergarten best friend firmly believed it was pink. In order to salvage our friendship from this crushing betrayal, we settled on naming the color “pinkish-purplish”(a perfectly acceptable name considering we were five years old).

Of course, we had to explain to our peers why we were very obviously correct in our naming, and everyone else was wrong. So, we gave the crayon an origin story, and this is that origin story: Once upon a time, a pink crayon and a purple crayon got married and had a baby. That baby was a perfect mix of pink and purple. The crayon parents argued about which one of them the baby should be named after. Finally they came to an agreement, and thus the crayon was named “pinkish-purplish”.

Again, this made perfect sense to a group of five year olds. And although our teacher crushed our little hearts by telling us the crayons real name was Orchid, we never did stop calling it pinkish-purpleish.

Throwback Thursday: Rhetorical Analysis – Scientific Research

Throwback Thursday, where, essentially I post old writing samples, essays and short stories that I dig up from my pile of hoarded papers and school assignments or from the depths of my computer. So everyone can see how my writing has changed/improved over the years.


Science is, in and of its self, a study in uncertainty. Author John M. Barry qualifies this uncertainty, and its acceptance as a quality necessary in a scientist, using the characterization of the ideal scientist to characterize scientific research itself, expounding on qualities necessary for one to reach an answer to their inquiries, focusing on the ultimate goal of the scientist and positing questions to parallel the inquisitive nature needed for success.

Barry begins with definitions of certainty and uncertainty to expand on qualities required in a scientist, namely the requirement to “accept – indeed embrace – uncertainty” (line 10) as a basis for scientific research. With research, a scientist’s certainties and “even beliefs may break apart” (line 15) with new findings. Barry characterizes scientific research by characterizing the scientist that conducts it, emphasizing the ultimate goal of a scientist “to yield an answer” – a certainty (line 67). Barry moves through the passage with a scientist’s capacity for creation and inquisitiveness stating “ a scientist must create…everything…figuring out what tools are needs and then making them” – asking questions of a “would” and “if” nature (lines 39-49), so the tools of a scientist, is his tool to show the inquisitiveness necessary in scientific research. Ultimately ending the passage with the scientist’s possibility of either success or failure, both likely ends to the research and answers to the questions of the scientist, the structure of the passage thus parallels the structure of research its self: defining limits, gathering tools, asking questions, and seeking then yielding answers.

Apart from the structure of the passage being parallel to a research structure, Barry characterizes scientific research in other ways; such as, the personification of a “single step” in research to a scientist’s “single step [which] can take them through the looking glass” (line 31) or “take one off a cliff” (line 35) – scientific research is a gamble – one will find answers or more questions – certainty or uncertainty. A scientist must “move forcefully…even while uncertain” (line 21) and “the less known, the more one has to… force experiments to yield an answer” (line 66-68). In this characterization of the scientist, Barry characterizes scientific research in a way eve a non-scientist could understand.

Scientific research is built on uncertainty, and in yielding an answer and as John M. Barry characterizes a scientist’s journey from uncertainty to result, he characterizes scientific research itself, from the structure to inherent inquisitiveness to the search for certainty.

 

Throwback Thursday: Rhetorical Analysis – Banneker Letter

Throwback Thursday, where, essentially I post old writing samples, essays and short stories that I dig up from my pile of hoarded papers and school assignments or from the depths of my computer. So everyone can see how my writing has changed/improved over the years.


There are certain arguments that seen impossible to make, because the answer seems so clear it is hard to imagine an argument at all; such is the argument of slavery. While today, slavery is very obviously illegal, in 1791, when Benjamin Banneker – a slave’s son – wrote to Thomas Jefferson on the issue, slavery was a point of political contention, not moral. In his letter, Banneker introduces the modern, moral argument to slavery, asking Jefferson to do his part in ending the extensive suffering and cruelty slaves face. Banneker also draws a parallel between Jefferson’s beliefs enumerated by the Declaration of Independence and the plight of slaves, showing the logical progression in that, if it is the new nation’s right to liberty, then surely it is the slave’s right as well.

Modernly, slavery in inarguably wrong, though such has not always seen to be true. One of slavery’s early opponents was Benjamin Banneker, who in 1791 wrote to Thomas Jefferson, imploring him to “wean [the nation] from those narrow prejudices [of slavery]” (line 46-47). In his comparison of the slaves to Job (line 48-50), Banneker makes the argument against slavery wholly moral by introducing a religious precedent for his position, indicating that the nation should not “counteract [God’s] mercies” (line 36) with “fraud and violence so numerous…groaning captivity and cruel oppression” (37-39). While the moral argument is strong, Banneker needs Jefferson’s political sway to have anything accomplished. By indicting Jefferson himself, claiming he has been “found guilty of that most criminal act [slavery] which you professedly detested” (line 39-41), showing that politics can sway a man to slavery and indicating so can it be used to sway a man from slavery and urging Jefferson to stick with his original morals.

Other than a moral argument, Banneker presents Jefferson with a logical one. If the American people can claim freedom from the “tyranny of the British Crown” (line 2), than surely slaves should claim freedom as well. He used Jefferson’s own words against him, “We hold these truths to be self-evident, that all men are created equal, and are endowed…with certain inalienable rights…life, liberty, and the pursuit of happiness” (line 21-25). Jefferson himself enumerated the right of all to freedom, of the “valuation of liberty and the free possession of those blessings to which you were entitled by nature” (line 29-30). Which then begs the questions of why a nation founded on liberty, would withhold “impartial distribution of those rights and privileges” (line 33-34) from all its inhabitants. It stands to reason then, that if Americans had a right to freedom, so did American slaves. Banneker draws the parallel between the plight of the slaves, and that of the American Revolution in such a way that that Jefferson, and by extension American politicians, would have no other conclusion to draw. Banneker even ends his letters, “thus shall {Jefferson] need neither the direction of myself or others, in what manner to proceed herein” (line 51-53), so confident in his argument he is, he doesn’t feel the need to spell out that he wants Jefferson to curb slavery as he works on building the new nation.

Slavery is a moral wrong in the modern day, but for the first century of America’s history, it was a political right. So contentious was the issue, it lead to the civil war, which many believe could have been avoided if the founders had curbed slavery from the start, though they feared the union would not survive such an early display of overt power. As the nation was in its infancy, the son of slaves wrote to Thomas Jefferson, a man who wrote of inalienable rights, and asked the same for his people, because if America was truly to be a land of the free, then how could so many continue to be oppressed?

 

Throwback Thursday: Rhetorical Analysis – John Downe’s Letter to His Wife

Throwback Thursday, where, essentially I post old writing samples, essays and short stories that I dig up from my pile of hoarded papers and school assignments or from the depths of my computer. So everyone can see how my writing has changed/improved over the years.


In 1830, immigration to America from Europe, and specifically England, was very common. These immigrants came, most notably, for opportunity – which was not often available to them in England. John Downe was one such immigrant, who came to America and found work, as well as relative abundance. In a letter to his wife, convincing her to bring herself and their children to America, he expounds on the qualities of America through comparison to England, in which England is found lacking, expanding on America’s relative abundance of food, and the ease of finding shelter and work, to convince her the journey would be worthwhile, emigration would be worthwhile. He also assuages her fears of the trip itself – assuring her of America’s ability to provide a better life for all of them, and the safety of the journey overseas.

John Downe convinces his wife to emigrate to America primarily by detailing its advantages. Assuring her of his work “[having] the whole management of the factory” that allows him a decent living, as example of the benefit of his coming alone beforehand. He compares prices in America to England, that “I can have 100lbs of beef to 10s English money” – exceedingly cheap when compared to prices and poverty in England. In America “if a man work, he need not want victuals” – he has found work with ease, and can continue to work – something not guaranteed in England, here, he can provide for his family. She need not worry for herself or their children that their hopes of America would be unfounded – he has confirmed it to be everything they could have dreamed.

Downe also assuages any of her fears of the journey overseas itself – the physical toll of emigration. That there is “plenty of room yet” for immigrants to come – opportunity would not disappear from influx. That he regrets leaving her and the children behind – but it is worth it to be able to provide for her and the children, showing his sincerity in asking her to follow him. He assures her that he “will be able to keep her in credit” – she need not worry of the finances of the journey all on her own across the sea, and the journey across the Atlantic will have “a few inconveniences” but “will not be long”. He assures her she will enjoy America, that it is what is best for the children, that they “need not want” for anything again here. He appeals that “America is not like England” that “poverty is unknown here. You see no beggars”, a far cry better than their lives in England with “nothing but poverty before [them]”.

America affords new opportunity for work and an escape from poverty for immigrants. In 1830, this was a common goal of emigration, and abundance of both food and work made it possible for many, as well as the passage overseas becoming easier and safer with each passing year. This is how John Downe convinces his wife to join him in emigrating to America: a better life for her and their children – who would never want again.

Throwback Thursday: Bioethics Debate -Insurance Companies Should Not Have The Right To Request Or Receive Genetic Test Results   

Throwback Thursday, where, essentially I post old writing samples, essays and short stories that I dig up from my pile of hoarded papers and school assignments or from the depths of my computer. So everyone can see how my writing has changed/improved over the years.


(Co-authored with my friend Emilie C.)

Genetic tests are a fairly recent development in the medical, and sadly, despite the phenomenal advancements made each year on the science side of things, the legal side is lacking in keeping pace. For one thing, there are relatively few laws that protect genetic information, and according to the National Conference of State Legislatures, only one state of our 50 even considers genetic information to be personal property, this among other things need to be rectified, preferably before a crisis due to the abuse of genetic information.

Insurance companies are some of the most likely to abuse genetic information. Knowledge is power after all, and insurance companies have a vested interest not in patients, but in turning a profit. While the Genetic Information Nondiscrimination Act (GINA) passed in 2008 makes it illegal for health insurers and employers to discriminate based on DNA, according to the National Human Genome Research Institute, there is a loophole: the law does not apply to long-term care insurance, disability insurance, or life insurance. In fact, any type of insurance company aside from health care can demand genetic test results before offering coverage. The patients most in need of these insurances are those at risk for genetic diseases such as Huntington’s and Alzheimer’s, yet, these are the people who find it most difficult to get coverage.

Many people avoid getting genetic tests, even when they have a high risk of inheriting a disorder, and when early diagnoses may lead to better care, because they fear what the insurance companies will do. For instance, because of genetic predispositions, or a family history of a genetic disease that may lead to an early death, a life insurance company can deny coverage. A person’s health care insurance may not be (legally) affected by a company receiving test results, but a patient’s health is still adversely affected. In an ethical dilemma such as this one, a patient’s right health, safety, and peace of mind, are far more important than a company’s right to turn a profit.

The other big ethical issue with insurance companies receiving genetic test results is privacy. The fourth amendment protects us from having to share or give away our personal property, and what is more personal than our genetic code? Aside from an infringement of personal rights, it is an infringement on patient rights, such as patient confidentiality, which is one of the pillars of ethics in medicine. One of the most famous violation of patient confidentiality is the case of Henrietta Lacks, whose cells were used for scientific research without her knowledge, who never received compensation despite our cells being some of the most valuable in science today (Rabin Martin, 2013). As are abilities expand, as technology improves, we may face more and more cases like this, some with far worse consequences than that of Henrietta Lacks. It is better to start focusing on how to prevent it as much possible now, than to deal with the fallout later.

By allowing insurance companies to receive genetic results, you violate privacy as well as a long-standing focal point of ethics in medicine. For no reason other than that insurance companies want to us that information to make money. Some companies will claim that they will not use the information against you, but if they aren’t going to use it, then why not eliminate the risk and just deny them access to the information in the first place.

On the topic of using genetic test results against a patient, we are brought to discrimination. Knowledge is power, and those in power always seek to use it, and often, they abuse it. Insurance companies use genetic information to raise rates and deny coverage to individuals who need it. This is a basic definition of discrimination. Even worse, it is discrimination for something as invisible as your DNA. Something you cannot control anymore than you could control your skin color (which is also based in your genes, so I guess genetic discrimination is nothing new). But these days, we don’t allow business to refuse someone based on skin color, that sort of discrimination is illegal. So why is it okay to discriminate based on genes? Something that no one has any control over.

In short, insurance companies shouldn’t have the right to request or receive genetic test results, either from clients or from family members. That way lies violation of privacy and discrimination. We can’t stop the abuse of genetic information unless we control the access of it. We don’t have the proper laws in place to protect us; the legal system cannot keep up with biotechnological advancements. But we can start with this. Chose patient rights over a company’s monetary gain. Make the right choice.

Throwback Thursday: Article Critique – APP and AD

Throwback Thursday, where, essentially I post old writing samples, essays and short stories that I dig up from my pile of hoarded papers and school assignments or from the depths of my computer. So everyone can see how my writing has changed/improved over the years.


Acosta, S. A., Tajiri, N., Sanberg, P. R., Kaneko, Y., & Borlongan, C. V. (2017). Increased Amyloid Precursor Protein and Tau Expression Manifests as Key Secondary Cell Death in Chronic Traumatic Brain Injury. Journal of Cellular Physiology, 232(3), 665-677.

            Traumatic Brain Injury (here referred to as TBI) affects 1.7 million people in the United States, resulting in over 50,000 deaths annually; making TBI a significant health problem, especially for athletes and military personal. Aside from initial trauma, TBI has longer lasting effects and neuropathologies (brain diseases and/or disorders) that can arise, especially in the event of repeated injury. These neuropathologies can include a higher risk of development of dementia and/or Alzheimer’s disease (AD), both commonly only associated with old age. Other symptoms of TBI patients vary across differing motor and cognitive impairments, arising from biochemical effects of cell death post-trauma, and the subsequent degeneration of both gray and white matter in the brain. It is speculated that chronic TBI can double the risk of AD symptoms later in life; this speculated link was the focus of the experiment.

The experiment was conducted using two-month-old, male rats, using blind procedures, wherein no researchers conducting analysis/collection of data were aware of the variable group – sham (control) or induced TBI – specific rats were exposed to. Rats in the induced TBI group underwent surgery, and the brain was then hit using an impactor rod, with consistent location, velocity, and instruments between rats; meanwhile the control group underwent the same anesthesia, opening of the skull, and suturing, without impact. After six months, the rats were put to rest to examine/analyze the effects of TBI on the brains of the rats. Six sections of brain per rat were used, each section cut uniformly and stained to reveal cell death and other biochemical manifestations of TBI; while other sections were exposed to anti-bodies to test for cell cycle regulation deficits. The volume of Amyloid Precursor Protein (APP) and Tau plagues were also screened, both of which pay prominent roles of the development of dementia and AD.

The results of the experiment were, in short, activation of MHCII cells – such as seen in AD, decrease in neural connections and strength, over-expression of APP in both gray and white matter of the brain, and increased tau plagues – which can block and choke of neurons in the frontal cortex and hippocampus, which control aspects such as personality and memory – the results link TBI to symptoms and hallmarks of AD. The cell death mechanisms closely resembled those in various late stage brain disorders, showing chronic head trauma, such as concussions, can have worse, longer acting effects such as increased risk of neurodegenerative disorders or symptoms that do not fully heal even when the initial trauma does –  though symptoms were mostly contained to the areas of injury. TBI can be linked to reduced cognitive performance and earlier-onset of degeneration. Though present data is limited, further analysis over longer time frames is needed to make more generalizable claims.

The article was very interesting, as chronic TBI manifesting as AD symptoms means that treatment for one may treat or mitigate symptoms of the other. The brain itself is a fascinating organ, as knowledge is limited, as is treatment of it. One treatment for both TBI and dementia/AD is easier to fund and research than multiple treatments for each, which can expedite our ability to fix the common problems of each, such as APP and tau, which contribute to cell death of neurons and their connections, and block neurotransmitters when severe enough. The delaying of such symptoms can prolong life, or at least senility in patients, but more research is needed. To both show a stronger, more consistent connection between AD and TBI, and to find the degree to which symptoms may differ or confer, in order to better development treatments for both the injury and the disease. The experiment shown here is only a first step.

Throwback Thursday: Stages of Man Essay – 2014

Throwback Thursday, where, essentially I post old writing samples, essays and short stories that I dig up from my pile of hoarded papers and school assignments or from the depths of my computer. So everyone can see how my writing has changed/improved over the years.


 

“All the world’s a stage”, this is the opening of the monologue by Jacques in Shakespeare’s As You Like It detailing the seven stages of man. Shakespeare’s seven stages covers the physical aspects of aging, from infancy to the oblivion of death. On the other hand, psychologist Erik Erikson’s eight stages covers the mental progression of age. An argument could be made for any of the stages, mental, physical, or both being the most difficult to live through. In my opinion, the stage of adolescence in Erikson’s stages of psychological development is the most difficult.

Adolescence is the fourth of the mental stages, and if matched to one of Shakespeare’s stages, would be found somewhere between the schoolboy (2) and the lover (3). This is because adolescence is a cross between childhood and adulthood. Adolescence is defined as being the ages between 13-19, also called the teenage years. I believe this is the hardest stage because of the afore mentioned fact that it is the stage in which the transition from child to adult takes place. At this stage, you are expected to act like an adult, but you are treated like a child. You are expected to make decisions that affect your entire future, but you cannot leave your home without your parent’s permission. At this stage, you can clearly remember the hardships of the stages that came before, and are intelligent enough to understand the hardships of the stages ahead. So, at this stage, you must deal with not only the hardship of the present, but you must also think about, and in most cases fret over, the responsibilities and hardships of future stages such as love, a career, and making both your parents and yourself proud.

The existential question attributed to adolescence by Erikson is “Who am I and what can I be?” This I think summarizing teenagers even today in a nutshell, and is why being a teenager is one of the toughest times in someone’s life, perhaps even the most difficult. Because aside from the expectation from parents to succeed in school, and all of societies expectations, teens need to try to stay true to who they are. All the while not knowing who that is. This is the age where you start trying to figure out what you like because the is the last time in your life where your parents are going to by your side, either to support you or to breathe down your neck. This is the time of your life where your real friendships start forming, and when you decide on your future. This is when you start dating. And it’s all the more difficult because the difference between this stage and the ones that comes before and after is so huge. The stage before is full of children, and the difference is very noticeable in interests, attitude, and looks. The stage after and those there after are full of full-fledged adults who have perhaps forgotten what it is to be in high school. The teenage years are when your self-confidence is at it’s lowest, so ridicule and peer-pressure are a large influence. Teens want to find out who they are, without differentiating themselves too much from their friends. All while being expected to prepare for adulthood.

In summary, my opinion on the most difficult stage of life is Erikson’s 4th stage of adolescence. This stage is equivalent to a mix of Shakespeare’s stages of schoolboy and lover, as it has attributes of each. I think it is the most difficult stage because it is the stage that marks the transition from child- to adulthood. Teenagers need to figure out who they are, while they crave to be accepted by society and meet their parents expectations. They are treated like children, just are expected to act like adults. This makes for a very difficult period. As Shakespeare said, “All the world’s a stage”, and at this stage is when a person does the most acting as someone they aren’t. Adolescence is when you change your role.

Throwback Thursday: That’s Not How Science Works: Vaccination Edition –

Throwback Thursday, where, essentially I post old writing samples, essays and short stories that I dig up from my pile of hoarded papers and school assignments or from the depths of my computer. So everyone can see how my writing has changed/improved over the years.


 

Childhood vaccinations have been preventing disease and saving lives of children for over a century. Yet only in recent decades has vaccination become a question, a choice, rather than a must. The root of the vaccine debate lies in the question of personal freedom versus the effect on those around us of not vaccinating. Parents should have to vaccinate their children, because the benefits of doing so far outweigh any potential risks. Many of these perceived risks are fictional, so the fear they cause is unfounded.

Orange-County, California has one of the highest personal exemptions rates in the country, at nearly 9% of kids being unvaccinated. This county has also had the most deaths from the measles outbreak that originated in Disneyland. “Rhett Krawitt is in remission…vulnerable to infection and unable to be vaccinated, turning him into an unwitting symbol of the need for herd immunity” (Schulten, New York Times). Rhett is just one example. Herd immunity is if 95% of a population is vaccinated or otherwise immune. The remaining 5%, those with immune disorders or other conditions making them unable to be vaccinated, will be protected because the disease will not be able to develop. When immunization rates drop too low, diseases can sneak in and cause an epidemic like the one seen with the measles. One reason people don’t vaccinate is because they think the disease is nearly eradicated already and there is no need; however, that only stands true when we vaccinate.

One of the greatest misconceptions about vaccines that lead to personal exemptions is the false notion that “vaccines cause autism”. To be clear, they don’t. The rumor that they do was based upon falsified research that has since been retracted and disproven. The side effects of vaccines are almost always mild, ranging from a fever to a rash, only in rare cases. Only the DTaP vaccine has a more common, severe side effect. One in a million cases can suffer paralysis or brain damage (CDC website). Even so, the risk you run in not getting the vaccine, which is to protect infants from whooping cough, diphtheria, and tetanus, is far worse than these rare risks.

Many people choose not to vaccinate because it is their “personal freedom” or because they “don’t want to overburden their child’s immune system”; however, people should have to vaccinate their children because the risks posed to both individuals and society by not doing so far outweighs the rare case of adverse effects from vaccination. As Dr. Snyder said to the Boston Globe “It’s a common theme that we see parents questioning scientific facts in the same way they would debate a political topic.” We shouldn’t let them.

Throwback Thursday: Karyotype Letter – 2014

Throwback Thursday, where, essentially I post old writing samples, essays and short stories that I dig up from my pile of hoarded papers and school assignments or from the depths of my computer. So everyone can see how my writing has changed/improved over the years.

For this particular assignment, we drew chromosomes from a hat to write about the disorder a trisomy of that chromosome would cause.

I originally drew 21 but everyone else reveled, saying it was unfair since I wouldn’t have to research it (my sister has Down’s Syndrome – also known as trisomy 21) so I traded with my best friend for trisomy 15. All the science here is as accurate as a 14 year old could get.


 

Dear Soon-to-be Parents,

I have finished reviewing your child’s karyotype, and I regret to inform you that I found a genetic abnormality.  As you know all human beings have 46 chromosomes. In your son’s case he has 47 chromosomes, an extra chromosome, the 15th to be precise. This is also called trisomy 15. This additional chromosome can cause one of two genetic syndromes.  Trisomy 15 can cause either Prader-Willi’s syndrome (PWS) or Angelman’s Syndrome (AS). PWS occurs when the extra chromosome comes from the mother. AS occurs when the extra chromosome comes from the father. Unfortunately a karyotype does not tell us where the extra chromosome came from and thus I cannot tell you which disorder your son will be born with. Both syndromes also result in miscarriages, but at this stage in pregnancy that is highly unlikely.  As you are entering the third trimester, an abortion is also not a viable option so I would like to take this opportunity to provide some education and prognosis so you can help your son grow and develop to the best of his potential.

Some common symptoms to both disorders are: delayed growth and development, mental retardation, hypotonia (weak muscle tone), and characteristic facial features. The severance of these symptoms varies from child to child.. Chromosome 15 codes genetic information used largely by the brain, specifically in muscle movements, as well as, eye and skin color. The maternal chromosome is usually the most active, thus, with Angelman’s syndrome, the extra paternal chromosome manifests in certain symptoms. Angelman’s causes developmental delays, especially physically. Fine motor skills are underdeveloped and they have short attention spans. Those with Angelman’s frequently exhibit hypopigmentation, which causes their skin, eyes, and hair to be significantly lighter than the parents’.  Children with Angelman’s generally have poor verbal skills, though their non-verbal communication is generally better than their peers. They are described as “excessively happy and always smiling”. Children with Angelman’s can live independent, happy lives with the proper assistance and care. They live well into adulthood and can have children of their own, though it is hereditary.

As for Prader-Willi’s syndrome, an extra maternal copy is activated. Common symptoms include: extreme, insatiable appetite (polyphagia), delayed to no pubescent growth (hypogonadism), extremely weak muscles, and hormone imbalances. People with this condition typically find it hard to reproduce. They have distinct facial characteristics, including: thin upper lips, almond shaped eyes, lighter skin, and a downturned mouth. Joints are usually loosely extended and sex organs are slow in development. As with Angelman’s, children with Prader-Willi’s have trouble learning and speaking. Due to their insatiable hunger, they are prone to huger pains, and obesity. This can cause severe sleeping and behavioral problems. Nearly all with Prader-Willi’s live well into adulthood, but many rely on drug therapy to suppress the worst of the symptoms. Both disorders are linked to having a lower than average intelligence.

You may be wondering how this could have happened to your son, wondering how he ended up with three chromosome 15s instead of two. You may want to blame each other. Well don’t. It is just as likely to come from the father than the mother, and vise-versa. It isn’t either of your faults; it is a result of non-disjunction. Non-disjunction is, to put it simply, when in meiosis, the chromosomes that should separate, don’t. Usually, replicated chromosomes split, so each haploid cell/gamete has one copy. Non-disjunction can occur equally in males and females. When non-disjunction occurs, both copies of a chromosome enter one cell, and none enter the other. If this occurs in Meiosis I, then there is a 50% chance of a monosomy (having one copy of a chromosome) and 50% chance of a trisomy (having 3 copies, which is what happened to your son). If non-disjunction happens in meiosis II, then there is a 50% chance of a “normal” baby, 25% chance of monosomy, and 25% chance of trisomy. It is not your fault, and you are not the only parents to go through this, your son is not the only one with this disorder (which ever it may be). About 1 in 1000 pregnancies have chromosomal disorders. And while there isn’t a cure, there are ways to help your son.

Treatments for both Angelman’s and Prader-Willi’s are similar. One noticeable difference is that children with Prader-Willi’s require more hormone and drug treatments. Hormone treatments are used to help the child develop normally, and to trigger puberty if it does not occur naturally. Drug treatments are also used to treat the hunger pains. Many children follow special diets that are “low in calories but high in proteins, fiber, and various essential nutrients” so that they do not become obese. Other treatments for Prader-Willi’s are the same as those for Angelman’s; they focus mainly on making the symptoms caused by the disease manageable.

Early Intervention is the key to minimizing the effects and increasing your son’s chances of success.  Early Intervention programs provide children a mix of speech, occupational, and physical therapies, among other things. This starts in infancy and can help a child with these disorders to develop skills similar to their “normal” peers. This therapies can help a child with a developmental disability reach milestones sooner than they would on their own. Children who go through early intervention are more capable and show less extreme symptoms than those that don’t. Children with chromosomal disorders often require more specialized learning environments than public school can offer, there are special schools these children can attend to aid their education. Here in south Florida, schools such as “The Learning Experience” are specifically for taking care of those children with special needs. And while these schools can be expensive, scholarships and other programs are available such as the McKay Voucher here in Florida. Feel free to contact me, or any of my co-workers for additional information. And remember, your son is special. He’s going to need a little extra help, but he’ll love you the same as any other baby.

Best Wishes,
Dr. Samantha B. (Last name redacted)