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T Xr i s o m y terminate the Stigma Amara Lin
You walk into a restaurant to
meet up with your friends for dinner. As you walk past the other tables looking for your party you begin to hear alarming noises coming from one of the tables. You look over to see a little girl, maybe seven or eight years old. She’s yelling, spinning, and running around the restaurant. You look at her mother who’s obviously struggling to control her child, subconsciously giving them a look of disapproval. “Discipline your kid,” you mutter as you take a seat with your friends and begin to gossip about the mother’s lack of parenting. Little do you know, the little girl and her family deal with this all the time. She has Trisomy X, and these “meltdowns” are a common symptom. What you saw is only a small portion of what their family conquers every day. Her mother usually aims to avoid settings that could cause sensory overload. However, in this case, she made the rare exception for her grandmother’s birthday dinner.
Trisomy X is a genetic disorder that causes girls to
have three X chromosomes rather than two. This can cause a large spectrum of symptoms that can manifest physically, mentally, and emotionally. While some with Trisomy X go their whole lives without knowledge of their own genetics, others face everyday challenges that require medical and educational intervention. One big challenge that girls with Trisomy X face is a lack of understanding and awareness. Most people, even some medical professionals aren’t aware of the disorder even though it affects 1 in 1,000 girls. (“Trisomy X (Triple X Syndrome)”) This makes the diagnosis hard to understand for those with Trisomy as well as those without it. As we become more aware of genetic disorders such as Trisomy X, we must promote the acceptance, support, and understanding of them. Veronica Lin was 45 years old when she received the report that the baby she was carrying had Trisomy X. After being showered with packets and statistics, the genetic counselor informed her that a lot of people terminate when they get this diagnosis. The uncertainty surrounding the disorder stunted her support system, as she was unable to obtain the proper information to respond accordingly. Because the spectrum is so huge, she wouldn’t know the severity of the disorder until after the baby was born. Months later Veronica went into labor. She was scared for her daughter’s life as well as her own, considering she has a blood disorder. Once the baby was born, Veronica wasn’t even able to hold her daughter as she was rushed to the NICU, or Neonatal Intensive Care Unit, as she was having trouble breathing. In the midst of this chaos, Veronica was beginning to bleed out. She and her daughter were both fighting for their lives. The baby ended up spending 12 days in the NICU. While sitting in her hospital bed, Veronica and her family decided to name the baby Anaïs, meaning favored in grace. Luckily, both recovered and were finally able to leave the hospital.(V. Lin) My sister and I were overjoyed to be able to hold our new baby sister from the comfort of our own home. 2
veronica
While Anaïs’ birth was challenging for our entire family,
we were lucky to have a pre-existing diagnosis to prevent us from being blindsided. We anticipated complications somewhere along the line, we just didn’t know when. As soon as she was born Anaïs was not able to breathe or feed on her own. Without being able to synchronize her suck-swallow-breathe coordination, she was dependent on gavage feeding through a tube to transfer nutrients to her stomach. So far in Anaïs’ life, those 12 days in the NICU have been the most severely affected by Trisomy X, and she hasn’t required as intense of medical intervention since. Following her time in the NICU we noticed a delay in some early milestones. Anaïs experienced visible trouble sitting up and crawling. She had hypotonia in her trunk and shoulders which required physical therapy for about a year. Due to prior knowledge of her genetics, we were vigilant when observing her gifts and challenges. We were able to recognize her characteristics through a more knowledgeable and understanding lens. Overall, the prenatal diagnosis helped us prepare and allow for early intervention.
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jessica Genetic testing nowadays is becoming more and more
' ' it
wa s a relief as i f i n a l ly had an ex p l a n at io n for my issues i had for a l l my l i f e . ' ' 4
common, largely because of advanced maternal age. Also, as educators become more aware of learning differences, delays are detected, opening up testing for school aged children. As of 2012, only 10% of girls with Trisomy X received a diagnosis in their lifetime.(Cover) Without a diagnosis, people with Trisomy X often lack the self-understanding and perspective to flourish. For instance, Jessica Langenhoff was 41 years old when she received a diagnosis for Trisomy X. “It was a relief as I finally had an explanation for my issues I had for all my life,” she recalls. “My motor skills are like a six year old child. So I can ride a bike without training wheels but in demanding situations I prefer my three wheeled recumbent as I cannot fall with that one.”(Langenhoff) Short term memory, processing speed, and dyslexia-like symptoms not only made it hard for her to keep up in school but continue to frustrate her. “My reading skills did not reach my long term memory so I forgot the moment I closed the book… I had to train myself again at age 14.”(Langenhoff) She explains her depressive episodes and sensitive nature which cause her fatigue and increased susceptibility to sensory overload. Until her diagnosis, Jessica had spent the majority of her life combating these symptoms without any true understanding or reasoning for her daily struggles. “It is better to know the diagnosis as it helps to know one’s ‘manual,’” she explains. It is apparent that Jessica’s perseverance and fortitude have been integral to her continued progress.
Jessica said that the most challenging part about having Trisomy X is “convincing others that it is
a real thing and important to pay some attention to. That the diagnosis is an explanation, [not an] excuse however.” Like Jessica, many undiagnosed women can be left with many questions and an unsettling feeling of “what’s wrong with me?” They grow up knowing something’s different about them, but have no clue of why or where to start. This can be extremely frustrating especially when it consumes precious years searching for answers rather than developing the skills and the support system necessary to thrive. This can then lead to resentment or anger towards themselves and others in the process of mourning this “lost time.” On the other hand, a diagnosis, while vital to fully understanding someone with Trisomy X, must not be used as a crutch but instead as a key to fill in the blanks. What I mean by this is without a diagnosis, people are left with all the symptoms but no explanation or reasoning for them. A diagnosis provides this reasoning and can open up access to getting the necessary support.
'' Con vincing others that it is a real thing and important to pay some attention to. That the dagnosis is an explanation, not an excuse however. '' Unfortunately a diagnosis is not the final solution to all of these challenges. There is still a lot left to the unknown that each individual case must conquer on their own. Especially in terms of learning and education, a diagnosis for Trisomy X itself is not enough to receive the help and accomodations needed. The individual must exhibit a certain level of deficit in order to qualify for any learning services at all. In other words, there is no learning plan specific to Trisomy X, but rather the challenges that it can cause. For example, if a child exhibits difficulty reading and writing they can then be tested for learning differences related to these problems, such as dyslexia. However, if they do not test positive for dyslexia, or any official diagnosis involving reading and writing delays, they cannot receive the proper services that one with dyslexia would, despite the obvious deficit. This flaw in the system creates yet another obstacle for not only those with Trisomy X but those who are trying to help them. People with Trisomy X and genetic disorders in general deserve more education and research surrounding a course of action. With preliminary awareness and preparation, especially for our educators, we can bridge this gap. Our children should not have to fail in order to prove that they need help. 5
Trisomy X presents itself in such a large spectrum that it
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is nearly impossible to create a single pathway of treatment. Girls with Trisomy X can experience physical, developmental, behavioral, and psychological signs and symptoms. Some girls display many of these effects while others display little to none. Some of the most common physical signs include hypertelorism (increased space between the eyes), epicanthal folds, clinodactyly (abnormally curved pinky fingers), and taller than average height. The more common symptoms include hypotonia, kidney abnormalities, ovarian abnormalities, and seizures. Developmental and learning delays encompass a huge spectrum of signs and symptoms, including difficulty reading, dyslexia, delayed speech, language, and motor skills. Another developmental challenge is demonstrated through executive function deficits. Common behavioral signs and symptoms include ADHD and symptoms of autism. Finally, the most common psychological symptoms are anxiety and depression.(“Triple X Syndrome�) Again, women with Trisomy X can display all or barely any of these symptoms. Many of these signs and symptoms are their own diagnoses in and of themselves. This makes the Trisomy X diagnosis hard to understand, and even harder to treat.
An a is Fast forward, Anaïs is now five years old and attends T-K at a bilingual school. She is extremely strong,
both mentally and physically. To the average eye she appears as a typical five year old. She does have slight hypertelorism as well as epicanthal folds which can be seen at the corners of her eyes. She also has slightly curved pinky fingers and toes. Aside from those minor details it’s nearly impossible to detect any genetic disorder physically. In terms of mental symptoms she does face some behavioral and focus challenges in school, but whether that’s due to developmental age or her genetics is hard to say. Additionally, there is a language barrier that comes along with a bilingual education. Anaïs is being taught every day in a foreign language that she doesn’t know, so it is expected of a young child to get lost when they can’t understand what their teacher is saying to them. This adds another layer of confusion to the entire situation. Sometimes she gets her name put on the board and is excluded from certain privileges as a consequence for not listening or getting distracted. The loss of recess, playtime, or other various social and physical outlets can exacerbate her restlessness and lack of focus, further triggering her behavioral outbursts. This cycle is a perfect example of how a lack of understanding from educators and peers can be detrimental and counterproductive. 7
Despite these challenges, Anaïs is at or above the appropriate learning lev-
el, overall. Outside of school, she loves the outdoors and is constantly seeking activity and stimulation. Many girls with Trisomy X have sensory processing challenges. Like Anaïs they can exhibit sensory seeking or sensory avoiding behaviors. One of these behaviors that my family has noticed with Anaïs is called eloping. This is when she runs away from us in order to fulfill her desire for stimulation. Anaïs explained that she does so to “feel the wind in [her] face.” Another sensory seeking behavior that Anaïs exhibits is spinning. She uses movements like these to stimulate her Vestibular system and create the necessary input to confidently interact with the world around her.(Dayna) Sensory processing challenges such as these are common in girls with Trisomy X. These sensory processing issues can also be triggered by outside factors. For example, we’ve noticed sensitivity to Red Dye 40, which was found to be common in children and adults with ADHD. After the consumption of Red Dye 40, Anaïs experiences a range of symptoms from rashes and swelling to hyperactivity, aggressiveness, and behavioral outbursts. While we cannot directly tie this allergy to Trisomy X officially, there is a probable correlation between the two. In comparison to the rest of the Trisomy X population, Anaïs’ case is considered relatively mild. As she continues to grow we will prepare to adapt to her growth and changes, Trisomy-related or not. 8
Because Trisomy X can be so invisible or misconstrued as bad behav-
ior or a lack of discipline, the misunderstanding and rejection from others can exacerbate the situation, furthering the divide and causing isolation among families that experience genetic anomalies. This is where you can make a difference. By pushing for change and advocating for people with genetic disorders, we can diminish the stigma and create a safe environment for these people to thrive. Genetic disorders such as Trisomy X are much more common than people think, and it is almost guaranteed that you know a few people that face these challenges every day. These people deserve more research, consideration and overall understanding.
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Near the end of our interview Jessica told me what she wished people knew about Trisomy X. She said,
“It is a real condition with a wide range of outcomes, from almost no issues to severe issues... When we are in a stable, supportive environment we can develop into healthy, socially active adults... We are different from average girls and women, but we are able to grow and flourish.�
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Works Cited Abraham, Dayna. Sensory Processing 101. Sensory Processing 101, 2015. Cover, Virginia Isaacs. Living with Klinefelter Syndrome (47,XXY) Trisomy X (47,XXX) and 47,XYY: a Guide for Families and Individuals Affected by X and Y Chromosome Variations. Virginia Isaacs Cover, 2012. “Conditions.” Kaiser Permanente Genetics Northern California, mydoctor.kaiserpermanente.org/ ncal/specialty/genetics/resources/conditions/xxx.jsp. Langenhoff, Jessica. Personal interview. 19 April 2020. Lin, Anaïs. Personal interview. 24 March 2020. Lin, Veronica. Personal interview. 13 March 2020. “Triple X Syndrome (for Parents) - Nemours KidsHealth.” Edited by Judith L. Ross, KidsHealth, The Nemours Foundation, Aug. 2017, kidshealth.org/en/parents/triple-x-syndrome.html. “Triple X Syndrome.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 18 Jan. 2019, www.mayoclinic.org/diseases-conditions/triple-x-syndrome/symptoms-causes/ syc-20350977. “Sensory Processing Disorder (SPD).” Familydoctor.org, 14 Mar. 2018, familydoctor.org/condi tion/sensory-processing-disorder-spd/. “Support Groups.” The Association for X and Y Chromosome Variations, 22 Apr. 2020, genetic.org/im-parent-affected-child/support-groups/. “Triple X Support Group.” NORD (National Organization for Rare Disorders), rarediseases.org/or ganizations/triple-x-support-group/. “Trisomy X.” NORD (National Organization for Rare Disorders), rarediseases.org/rare-diseases/ trisomy-x/.
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Amara Lin is a 16 year old student at Los Altos High School. She also attends Freestyle Academy as a design student. From a young age she’s been called to creativity. She began vocal performances at age three, and hasn’t stopped since. In the fifth grade she began teaching herself to play guitar as accompaniment for her voice and found an entire separate passion for the instrument. In the following years she developed an interest in creative writing, specifically poetry. Most recently she has blended all of these skills and has become a songwriter. As she’s matured, music and art have become her lifeblood, therapy, ministry, and passion. Now that she is able to experience unique and innovative opportunities through Freestyle, she is exploring the different pathways that these skills could lead her towards. By strengthening her previous talents and passions with a deeper educational foundation, she hopes to develop the acumen to be able to become a creative professional.
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