 “World Down Syndrome Day is on 3/21 to symbolize a third copy of the 21st chromosome in people with Down syndrome. Celebrate the value, acceptance and inclusion of people with Down syndrome on March 21!” (Source: National Down Syndrome Society) The official colors for Down Syndrome are blue and yellow.
Back in the 8th grade, my class was given an assignment to write a faux letter to a couple expecting a child with a chromosome disorder. The purpose was to understand and be able to explain certain disorders in layman's terms. By some twist of luck (as the teacher had us pick chromosome numbers from a bowl) I got chromosome 21 - aka Trisomy 21, aka Down Syndrome. I found the assignment on my computer, and thought it was an interesting thing to post here. To whom it may concern:
I am sorry to say that your future child will have Down syndrome. This was caused because (s)he contains an extra chromosome number 21. This happens when a sex cell undergoes meiosis, but for some reason, instead of having one chromosome in each daughter cell, an extra chromosome appears in one cell while the other is missing a chromosome. Some children exhibit only a few physical characteristics of Down syndrome; others exhibit many. The most common physical features associated with Down syndrome include: • Low muscle tone • Flat facial features, with a small nose • Upward slant to the eyes • Small skin folds on the inner corner of the eyes • Small, abnormally shaped ears • Single deep crease across the center of the palm • Double joints • Fifth finger has only one flexion furrow instead of two • Extra space between the big toe and the second toe • Enlarged tongue that tends to stick out Also, most children with Down syndrome are prone to vulnerabilities such as: • Depression and social withdrawal • Obsessive compulsive behaviors • Regression with decline in loss of social skills • Chronic sleep difficulties, daytime sleepiness, fatigue, and mood related problems In order to help your child cope with this disorder, you may enroll your child in a school for children with similar disabilities, try therapy, and have frequent check-ups with the child’s caregiver. I sincerely wish you the best of luck and happiness with your child. Whether or not your child would have been born with Down syndrome, (s)he is still a blessing to your life and should bring you great joy and pride. Sincerely, The Doctor There are three types of Down Syndrome. All have similar if not identical traits – though severity may vary, and often the difference cannot be told their physical or behavioral characteristics alone.
The most common type of Down Syndrome is Trisomy 21. Trisomy 21 accounts for 95% of Down Syndrome cases, marked by each cell in the body having a third copy of the 21st chromosome – which can come from either the mother or father. The second type is Translocation Down Syndrome. Translocation Down Syndrome accounts for about 3% of cases. In these cases, an extra part or whole 21st chromosome exists as part of ANOTHER chromosome, rather than as a separate third chromosome. It is translocated to another. The third type is Mosaic Down Syndrome. Mosaic Down Syndrome affects about 2% of those with Down Syndrome. With Mosaic Down Syndrome, only some, not all, cells of the body display the third 21st chromosome. Often, these individuals have fewer features of the condition, depending on how many cells are affected. The CDC defines Down Syndrome as follows: Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21.
Down Syndrome is also referred to as Trisomy 21. Down Syndrome is a genetic disorder, characterized as a learning disability. Children with Down Syndrome are often slower to speak, with IQs in the mildly to moderately low range. In the United States, 1 in 700 babies are born with Down Syndrome, up from the 1990’s where the figure was closer to 1 in 1000. Down Syndrome is the most common chromosome disorder in America. Individuals with Down Syndrome share similar physical characteristics, though the degree of which varies by person. Some of these characteristics include: (Source: CDC)
Aside from shared physical characteristics, individuals with Down Syndrome are prone to and often have other health problems including:
Women who are pregnant over the age of 35 are more likely to have a child born with Down Syndrome, though a majority of babies born with Down Syndrome are to younger mothers simply because there are more births among younger women. Down Syndrome is often diagnosed prenatally using one of three methods:
Though there is no cure for Down Syndrome, most children can live healthy, and near to normal lives depending on severity. Speech, occupational, and physical therapy, as well as early intervention programs, and specific programs or extra attention in school are shown to help children with Down Syndrome to develop to their full potential, and lead happy lives. A trisomy is caused – in most cases, and for Down Syndrome 95% of cases – by non-disjunction. Non-disjunction occurs during meiosis (meiosis being the process by which sperm and egg cells are formed – each with typically 23 chromosomes). Typically, in meiosis, the parent cell is meant to split, and give one of each chromosome to each reproductive cell, when non-disjunction occurs, both copies of a chromosome end up in the same reproductive cell, which then combines with the single chromosome of the other parents cell during fertilization, leading to a trisomy. This is a very basic overview, and genetics and biology both go far more in depth as to the whys and hows of cells, and what they do. This is the layman’s version of what causes a trisomy.   A trisomy – simply put, is when an individual has an extra chromosome (three, instead of the usual two-pair).
Chromosomes are “thread-like structures located inside the nucleus of animal and plant cells. Each chromosome is made of protein and a single molecule of deoxyribonucleic acid (DNA). Passed from parents to offspring, DNA contains the specific instructions that make each type of living creature unique.” (source: genome.gov) Humans typically have 23 pairs of chromosomes, for a total of 46. A trisomy is when one particular pair has an extra chromosome, making three instead of two of a particular one. The effect of a trisomy can vary widely, depending on which chromosome has the extra. For example, a girl with trisomy 23 (an extra X chromosome) would show little to no effect from it. Compared to babies born with trisomy 18, which has a high infant mortality rate. Down Syndrome is trisomy 21, and is the most common chromosome disorder in the United States. The 22 autosomes are numbered by size. The other two chromosomes, X and Y, are the sex chromosomes. This picture of the human chromosomes lined up in pairs is called a karyotype. This particular karyotype shows a female with Down Syndrome. I created this website because when I was six years old, my little sister was born with Down Syndrome. At six, I didn't understand what that meant, or how it would differ from a sibling without Down Syndrome. As far as I was concerned, I was just upset that I didn't get an older brother like I asked (again - I was six) and that my mother refused to let me name my sister "Bob" (Though, she did let me pick the middle name "Amy"). As I've gotten older, I've begun to understand Down Syndrome and my sister a little bit more. I understand that sometimes, parents don't want to let their kids play with her, like Down Syndrome is contagious (its not). I understand that she is smart, and likes ballet, loves swimming, and is more or less like any other kid once you give her a chance. It just takes her a little longer. Even by seven years old I decided that I was going to be a doctor to "help people like my sister", while now, at 18, that has been refined to "pediatric neurologist", the inspiration remains the same: Alexa Amy Bonge, my little sister. Even when she says things like "You go to college, I'm only child now" - I love her with all my heart. Having Down Syndrome is a single facet of her, not her entire being. The video below is from seven years ago, when we first adopted our cat Jackie. Tell me she doesn't look like any other four year old with a kitten. Sometimes people have trouble understanding her when she talks, like a lot of kids with Down Syndrome, she has trouble enunciating. But even if people could understand her perfectly, I don't think they'd listen. Which is why I've made Downs But Not Out - to speak out for her, and other kid with Down Syndrome. To help out parents expecting a child with Down Syndrome. Sometimes, its scary, sometimes its hard, but its not the end of the world. Now, Alexa is eleven years old. She wants to be a model and/or ballerina. She can read picture books and is starting on beginner's chapter books. She operates the Oculus Rift better than I do. (See video below). She's different, but she is never less. The name "Downs But Not Out" is a play on a phase in boxing "down but not out" - meaning, you got knocked down, or your opponent has the upper-hand, but you're not out of the fight just yet. What is it that you do with Down Syndrome? "I coordinate the Down Syndrome Association of Miami free swimming program for Down syndrome kids. It's a program that's a part of the association to improve the physical and mental skills of our kids by teaching them how to swim." What made you want to be a part of this? "I have a daughter with Down syndrome who’s 17 years old. She's a senior and a special Olympics athlete. She participates in swimming, golf, SUP (stand up paddle), basketball, is a cheerleader at school and she's a leader of the special Olympics input leader program. With the swimming program we want to show parents that their kids can accomplish the same things mainstream kids can. It might take more time but they can accomplish the same things. It's just a matter of working hard and motivating them." How would you explain Down Syndrome? "I would say they are the most lovely kids. They have a condition that makes them special and physically they are born with some limitations but spiritually they are the loveliest and strongest kind of kids." What would you say to a parents expecting a child with Downs? "I would say not to worry about the condition, but just to start thinking how to work with them from the very beginning and do the same things they would do if they were expecting a regular kid, with the difference that they would need an extra push but the rewards are met with more satisfaction." *Responses slightly edited with permission to allow for language barrier and clarity.* |
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