TSC is not ME

TSC IS NOT ME Copyright Š Text and Design by Erick Argueta All rights reserved. No part of this book may be used or reproduced in any manner whatsoever without written permission from the publisher except in the case of brief quotations embodied in critical articles and reviews.

For information, contact Erick Argueta 114 Deerfield Place Frederick, Maryland 21702

I would like to dedicate this book to my family. My mother and father have always been my support system in every situation and without them, I wouldn’t be the person I am today.

My mother, who raised me and my brothers by herself, showed me how to be strong. My father, who stepped up in a big way, guided me when I became lost.

So, for putting up with every little nuisance I threw at both of you.

Mom… Dad… Thank you, and I love you.

Contents PART I: RESEARCH 6 What is Tuberous Sclerosis? 7 Brief History 8 Causes 10 Signs and Symptoms 10 Tuberous Sclerosis: A Multilevel Disorder 11 Skin 12 Brain 18 Other Affected Organ Systems 19 Neurodevelopmental, Psychiatric, and Cognitive Aspects 20 BEHAVIORAL LEVEL 21 PSYCHIATRIC LEVEL 21 ACADEMIC LEVEL 24 PSYCHOSOCIAL LEVEL 25 How to Live a Positive Life with TSC 26

PART II: MY STORY 28 Conversation with my Mom 29 Tuberous Sclerosis and I 34

Endnotes 38 Bibliography 39 Photo Credits 40

PART I

RESEARCH

WHAT IS TUBEROUS SCLEROSIS? Tuberous sclerosis is a rare, genetic disorder that causes non-cancerous tumors to grow in various areas of the human body. This condition was given its name due to the potato-like nodules, tubers, that grow on the brain.1 The tubers then calcify with age and become hard or sclerotic.2 These tumors are often referred to as hamartomas3, which are malignant growths made up of cells. Typically, hamartomas do not spread to other organs, but these growths can enlarge and cause further damage to surrounding organs. Tuberous sclerosis typically affects various areas of the body like the skin, brain, eyes, heart, kidneys, and lungs.

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Brief History There have been documentations of tuberous sclerosis dating back to the early 1800s. Pierre François Olive Rayer4 illustrated skin lesions of a man’s face in his atlas in 1832. His observations depicted small, red dots along the man’s face that resemble facial angiofibromas, which is one of the signs of tuberous sclerosis. However, Désiré-Magloire Bourneville (1840–1909) is given credit for discovering, describing, and giving the condition its first name, tuberous sclerosis of the cerebral convolutions, because of its unique cerebral pathology.5 In 1862, Freidrich Daniel von Recklinghausen (1833–1910) presented his findings of a newborn who died shortly after birth. His findings included the first documented report of a child with cardiac tumors known as myomata and a “great number of sclerosis on the brain.” 6 Sylvan Elkan Moolten (1904–1993) was the first to coin the term “tuberous sclerosis complex,” its preferred name, because of the condition’s complex pathology in 1942.7 Moolten used this term to describe a multisystem genetic disorder that involves the skin, heart, brain, kidneys, lungs, eyes, liver, but also includes the gastrointestinal tract and reproductive organs.8 ——In 1881, Bourneville and Édouard Brissaud (1852–1909) described a four-year old boy who had seizures, limited verbal skills, and a cardiac murmur who then stopped eating and drinking. This boy later died due to his complications. At the young boy’s autopsy, his brain showed sclerotic, hypertrophic convolutions and they described many small sclerotic tumors that covered the lateral walls of the ventricles of the heart. This would be the first description of subependymal nodules.9 Also, Bourneville and Brissaud described the appearance of small tumors with a pale complexion in the kidneys and proposed the idea that the central nervous system and kidneys in tuberous sclerosis. Rayer’s illustrations would come back into the conversation when three men described the facial lesions and named them congenital adenoma sebaceum.10 Yet, these lesions were later renamed facial angiofibromas after future studies showed that the term adenoma sebaceum was incorrect.11

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——Heinrich Vogt, a German neurologist, discovered that cardiac and renal (kidney) tumors were a part of this condition. He also established a diagnosis triad of seizures, learning disability, and facial angiofibromas. This was used to diagnose tuberous sclerosis for many years. In 1932, the white spots (hypomelanotic macules) on the skin of an individual with TSC were seen as important as they help diagnose TSC.12 However, the improvement of technology and the continuous study into the condition changed the previous diagnosis triad to include specific conditions and improve the ability to diagnose TSC.

TSC HISTORY: (left) portrait of Désiré-Magloire Bourneville; (right) Rayer’s illustrations of facial angiofibromas

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Causes Tuberous sclerosis is caused by mutations in one or two specific genes: the TSC 1 and TSC 2 gene. Genes provide instructions in order to create proteins that are important to the body. In the case of tuberous sclerosis, the disease is caused by an abnormal gene that can either be inherited by any parent or a mutation within the affected individual. The two genes responsible for this mutation are the TSC 1 and 2 gene. The TSC 1 gene is found in chromosome 9 that regulates production of hamartin13, a protein that suppresses tumors. This gene is less common among those with tuberous sclerosis which causes milder symptoms. On the other hand, the TSC 2 gene is found in chromosome 16 which produces tuberin14, another tumor suppressor. TSC 2 is bigger and more prone to mutation making it the most common among individuals with TSC. Both genes are crucially important since they work as a unit to control and limit the overall cell growth.15 An overabundance of these proteins causes all the effects that come along with tuberous sclerosis complex.

Signs and Symptoms Tuberous sclerosis complex is a highly variable disorder meaning that the signs, symptoms, and severity can vary dramatically. With TSC, any organ system can be affected, and the disease can cause milder conditions where people can go undiagnosed until adulthood. On the other hand, tuberous sclerosis complex can cause significant complications that can impact an affected individual’s life where severe, life-threatening complications are apparent. It is important to note that individuals affected with TSC may not have all symptoms, and the way that the disorder progresses are unique to every individual.

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TUBEROUS SCLEROSIS: A MULTILEVEL DISORDER Due to the disease’s complex nature, tuberous sclerosis complex affects an individual on multiple levels. One important thing to remember is that affected individuals may not have all of the symptoms listed below. In the following sections, we will take a look on how tuberous sclerosis complex targets various area of the body.

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Skin The skin is the first visual sign of how tuberous sclerosis affects people. Main dermatologic features include hypopigmented macules, facial angiofibroma, shagreen patch, and periungual fibroma.16

Hypopigmented Macules Often referred to as “ash leaf spots�, hypopigmented macules are areas on the skin that have reduced pigmentation. These off-white spots are usually present at birth, but they become more apparent as they can be located anywhere within the body.

Facial Angiofibromas Facial angiofibromas are less common than hypopigmented macules but are more prominent on the face. Angiofibromas begin to appear at two to five years of age and vary in color from skin tone to reddish brown.17 As mentioned before, the facial lesions appear on the face specifically on the cheeks, nose, and chin. Yet, facial angiofibromas can appear on the forehead, scalp, eyelids, or upper lip. The growth of angiofibromas continues until adulthood where they can cease in size and the red intensity can decrease. Because of their predominance on the face, facial angiofibromas can cause psychosocial problems and often bleed if under stress. One of the most common treatments for facial angiofibromas is surgery; however, there is hope that topical medications will be available in the future.18

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ASH LEAF SPOTS: (left) hypopigmented macule on upper right of an individual’s back; (right) Closer look of a hypopigmented macule on an individal’s arm

FACIAL ANGIOFIBROMAS: both examples detail level of severity of this dermatological manifestation

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SHAGREEN PATCH: Close-up look of a shagreen patch on an individual’s back

UNGUAL FIBROMA: these examples show some of the growth progession of an subungual fibroma

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Shagreen Patch Another tuberous sclerosis-related skin feature is a shagreen patch. The patch can be present at birth as well and becomes apparent when an affected individual reaches their tenth year of life. Shagreen patches are described to have a bumpy surface with an irregular shape. They can take color of the skin around them or pink and brown. Shagreen patches are most commonly found on the lower back, yet they can appear on the upper back, glutes, or the thighs.

Ungual Fibromas Also known as Koenen tumors, ungual fibromas typically appear later compared to the other discussed lesions. Ungual fibromas vary in size and appear in the toes rather than fingers. If an ungual fibroma grows underneath the area where the skin meets the nail, then the fibroma is then considered subungual.19 These fibromas are soft and rounded with a reddish pink color. If a subungual fibroma grows under the nail plate, then long grooves are formed on the nail itself. There are other issues that become apparent if an individual has an ungual fibroma. They generally catch on clothing, bleed when intensely disturbed, and cause pain. Ungual fibromas alter the nail and distort it where the nail can be prone to other fungal infections.

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Heart A cardiac rhabdomyoma is the most common heart manifestation of tuberous sclerosis complex as it was believed to occur in fifty percent of people diagnosed with TSC. Rhabdomyomas are usually identified in a fetus during a late fetal stage ultrasound.20 Therefore, this identification acts as the first clinical sign of tuberous sclerosis, and any infant with rhabdomyoma needs to be evaluated further for more signs of tuberous sclerosis complex. Cardiac rhabdomyoma prevents blood flow in the heart and needs to be surgically removed.

Kidneys Another major organ affected by tuberous sclerosis is the kidney. Any TSC-related kidney growths can be identified at any point of an individual’s life. Renal cysts and angiomyolipomas are the most common kidney manifestations. Any person with TSC1 or TSC2 mutations is commonly affected by renal cysts.21 These cysts can grow in size where they can cause further diseases. On the other hand, another manifestation that affects the kidney is angiomyolipomas. They are described as non-cancerous tumors on the kidney that is made up of smooth muscle, fat, and blood vessels. Angiomyolipomas (AML) can increase in size and become prone to hemorrhaging, causing major problems in people with tuberous sclerosis.

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Lungs Lung involvement in tuberous sclerosis appears after puberty and tends to have a predominance in women. However, men and women can be affected by TSC in the lungs. People with TSC are affected by lymphangioleiomyomatosis, or LAM.22 Throughout the lungs, smooth muscle cells are apparent and affect respiratory function. Anyone affected by LAM can suffer from chest pain, spontaneous pneumothorax (collapsed lung), and insidious dyspnea (unusual breathing).23 A lung transplant is the only treatment option for those with severe LAM because there is no other medical treatment option.

Eyes Retinal hamartomas are benign lesions of the eye and are the most common optical manifestation of tuberous sclerosis complex.24 There is speculation that faulty migration of developing retinal cells causes these hamartomas. Retinal hamartomas are seen near the optic nerve head or on other areas of the retina.

The lesions can grow slightly and calcify with age, yet they rarely affect vision.

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Brain The main neuropathologic features between TSC and the brain include cortical and subcortical tubers, subependymal nodules (SENs), and subependymal giant cell astrocytomas (SEGAs).25 Cortical tubers can be found in the cerebral and cortex.

Tubers Tubers are focal malformations in cortical development. They are usually mushroom-shaped and can calcify or go through cystic degeneration. The number of tubers that an affected individual with TSC is usually present at birth.

SENs and SEGAs Located at the lateral ventricle walls, in the brain, SENs are made up of large cells and are spindle shaped. Subependymal nodules increase in size throughout time and in some cases, SENs can become subependymal giant cell astrocytomas (SEGAs). Although, they can stop growing and calcify in some cases. SEGAs generally appear within adolescence and can extend into the lateral ventricle. If this happens, fluid can accumulate in the brain known as hydrocephalus. Individuals with SEGAs can suffer from these symptoms: headache, vomiting, and papilledema.

Affects on the Brain There are other ways that tuberous sclerosis affects the brain. The disease can cause epilepsy, cognitive impairment, autism spectrum disorders, and sleep disorders.26 Ninety percent of individuals with TSC are affected with epilepsy with about seventy percent experiencing a seizure within the first year of their life.

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Some infants with TSC will develop infantile spasms as well. Infantile spasms are characterized as an infant having quick, sudden movements of their limbs known as salaam attack. Individuals with tuberous sclerosis who develop epilepsy can choose medical therapy or non-medicinal options like dietary therapy and epilepsy surgery to alleviate symptoms. Cognitive impairment is when an individual has difficulties remembering and learning new things as well as concentrating and making decisions. Tuberous sclerosis works on many levels within the human body.

Other Affected Organ Systems Tuberous sclerosis complex can affect other organ systems, but they are not well studied and are not thought to be significant. Individuals who have hepatic AML or rectal polyps are typically seen in the gastrointestinal tract of the human body.

Specifically, people with AML have problems with their liver, pancreas, and other surrounding organs. The skeletal system can also be affected by TSC. Common issues are sclerotic vertebral lesions and bone cysts.27 Like observations with the gastrointestinal tract, issues with the skeletal system are seen as clinical insignificant.

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NEURODEVELOPMENTAL, PSYCHIATRIC, AND COGNITIVE ASPECTS OF TUBEROUS SCLEROSIS As many people can see, tuberous sclerosis majorly affects people on various cellular stages. However, the multi-level disease known as tuberous sclerosis affects individuals on many psychological levels as well.

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BEHAVIORAL LEVEL The behavioral level is considered the first and most visible level because it can be observed in many environments like in their home, clinic, or at school. Changes in behavior are usually studied through direct observation, parent and care surveys, or rating scales. In addition to sleep disorders, people with TSC suffer from socialcommunication difficulties, disruptive behaviors, and mood-related difficulties.

Social-communication difficulties include poor eye contact, repetitive, and ritualistic behaviors, as well as speech and language delay. On the other hand, people with TSC who suffer from disruptive behaviors are overactive, restless, and impulsive. Also, if they exhibit aggressive outbursts, temper tantrums, and self-injurious behaviors, they are considered to have disruptive behaviors as well.28 Lastly, individuals who suffer from mood-related difficulties exhibit depression, anxiety, and extreme shyness.

PSYCHIATRIC LEVEL Disorders related to this level are defined as a collection of symptoms that are apparent for a long time, that stops the daily functioning of someone’s everyday life, and that cannot be diagnosed by another disorder. At this level, people who exhibit psychiatric symptoms are assessed by two main systems of criteria. The first system is the tenth edition of the International Classification of Diseases produced by the World Health Organization.29 The second criteria system is the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders produced by the American Psychiatric Association.30 With these two sets of criteria, psychiatric disorders like autism, autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), depressive disorder, and anxiety disorders are recognized.

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Autism and Autism Spectrum Disorders Autism spectrum disorders are strongly associated with tuberous sclerosis complex. The core diagnostic features of autism include three main domains and must be present by the age of three to meet the criteria.

FIRST DOMAIN Qualitative abnormalities in reciprocal social interaction • Poorly modulated eye contact • Limited facial expressions • Difficulty in peer relationships • Lack of interests or subtle skills in reciprocal social interaction

SECOND DOMAIN Qualitative impairment in communication • Delay or lack of communicative language • Difficulty with two-way conversation • Stereotyped and unusual use of language • Limited or poorly integrated gestures

THIRD DOMAIN Stereotyped and repetitive patterns of behaviors • Preoccupation with unusual objects • Intense interest in a topic or activity to the social exclusion of others • Repetitive play • Interest in parts of objects rather than the whole • Stereotyped hand and finger mannerisms or sensory interests 22

ADHD Attention deficit hyperactivity disorder is another developmental disorder that is strongly associated with tuberous sclerosis. In order to meet the criteria for ADHD, the symptoms mentioned above must be present before the age of seven, and it must be seen in more than setting like at home and school. Although this criterion is clear and is often used to diagnose children, ADHD in adults and its diagnostic criteria is still being reformed. It is likely that this separate criteria for adults will include additional symptoms like poor organization skills, internal feelings of restlessness, unfocused mental activity (inability to turning thoughts off), irritability, low frustration threshold, and stress tolerance. Core diagnostic features of ADHD include:

INATTENTION

HYPERACTIVITY

• Failure to attend to detail

• Being fidgety

• Getting easily distracted

• Being squirmy

• Difficulty sustaining attention

• Restlessness

• Not following through instructions

• Overactivity

• Being forgetful and losing things

• Always appearing on the go

IMPULSIVITY • Difficulty waiting for their turn • Butting into conversations • Blurting out answers in school • Talking excessively

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Mood and Anxiety Disorders Mood disorders in TSC are diagnosed when a mood disturbance is a predominant behavioral issue. Disorders that fall into this diagnosis include major depressive disorders and bipolar disorders with depressive and hypomanic episodes.

Anxiety-related disorders include: • Panic attacks • Agoraphobia • Social Phobias • Obsessive compulsive disorder (OCD) In order to meet the criteria for these disorders, individuals must have had several symptoms for more than two weeks. People who suffer from these disorders also suffer from disturbed sleep, appetite, or energy. These symptoms must cause significant distress in order to diagnose them with these disorders. There are other psychiatric disorders that are associated with tuberous sclerosis. These disorders include schizophrenia, eating disorders, dementias, and other sleep disorders.31

ACADEMIC LEVEL Academic disorders are diagnosed when a child has trouble in skills like reading, writing, spelling, or math. These disorders affect their general intellectual ability, age, and educational level. Difficulties in reading include difficulties in reading accuracy, speed, or comprehension.32 Children who have reading disorders like dyslexia often read with multiple errors that impact speed and comprehension.

Children who have difficulties in mathematics have trouble in understanding math terms and concepts. They also have trouble reading and recognizing math symbols. Finally, difficulties learning new mathematical concepts are also apparent. This can be seen in the early scholastic years; however, it is common that 24

these difficulties would not be identified until middle school. Written difficulties are classified as difficulties with the production of written text like grammar, punctuation, spelling, paragraph organization, and excessively poor handwriting.33

PSYCHOSOCIAL LEVEL In this level, it is important to note that any contributions to this level. This is because there are many helpful psychological or social options available to help those affected once a problem has been successfully identified. When an individual has visible facial angiofibroma or white patches, then the individual’s self-esteem may be affected and might cause them to withdraw from any social interaction.34 If this problem is identified, then the proper psychological procedures can be enforced in order to reduce the individual’s self-esteem issue. This will help them interact by increasing exposure to peer support, community support, and active participation in larger group activities.35 In the psychosocial context, the family of an individual with TSC is a vital component in this equation. If any problem is not correctly identified, then families are at risk of drifting apart or engage in maladaptive patterns of living. Such patterns include denying the severity of issues, minimizing the deficits seen in the individual, or aggression at professionals or care workers.36 One example of a serious maladaptive behavior is being overprotective of the affected individual. Instead, families and professionals should play in an equal role in effectively identifying problems and work together to adopt proper solutions to ensure a proper environment.

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HOW TO LIVE A POSITIVE LIFE WITH TSC People with tuberous sclerosis have to live with all the challenges, neurocognitive or behavioral, every day and it is vitally important to remember that. When learning about the disease, there are many questions that sprout, and we must accept that there is no clear answer to those questions. Everybody who lives with TSC is different, and it is important to understand that there is not one definitive strategy that works for every single person. One factor is consistent coordination between professionals and families builds a strong partnership between the two parties.

Also, clear communication and authoritative parenting toward their child helps establish a foundation for parents when raising a child with TSC. Another factor is self-efficacy37, where an individual can gain the ability to distinguish their own limits and gain an understanding of what they cannot control in terms of TSC. As mentioned before, there is no definitive answer to whatever questions tuberous sclerosis may bring yet educating and understanding issues along with their proper solutions is one step closer to living a better life with tuberous sclerosis.

——One method for families to ensure they are well-informed when caring for someone with TSC is to find support. It is extremely beneficial for families to learn from other family’s coping mechanisms and see how they handle medical, social, and educational issues. The fact that adults with tuberous sclerosis can find other adults with the same issues can let them know that they are not alone acts as a coping mechanism as well. Also, this awareness can help individuals with TSC make friends who are understanding and accepting of those with tuberous sclerosis. There are advocacy groups that provide information on many platforms like educational family gatherings and Facebook as well as other online resources.

––There are many TSC support groups throughout the world and have established Tuberous Sclerosis International38, a consortium of groups where they can share experience, information, and research news around the world. Tuberous Sclerosis International provides information and support to those with tuberous sclerosis complex, their families, health care providers, and educators. They also speak 26

about any innovations to TSC research and clinical trials. Most TSC organizations help in any way by organizing support groups and education meetings. These groups provide newsletters, conferences for families and health care providers, physician referrals, matching programs, online chat rooms, and advocacy for educational and disability issues. One local tuberous sclerosis organization within Tuberous Sclerosis International is the Tuberous Sclerosis Alliance located in Silver Spring, Maryland. The Tuberous Sclerosis Alliance “is dedicated to finding a cure for tuberous sclerosis complex, while improving the lives of those affected.�39

WANT TO KNOW MORE? CONTACT THEM FOR MORE INFORMATION: 801 Roeder Road, Suite 750

(301) 562-9890

Silver Spring, MD 20910 USA

info@tsalliance.org

www.tsalliance.org

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PART II

MY STORY

Conversation with my Mom One of the main reasons why I wanted to write this book was because of the stories that my mother told me, since I was diagnosed with tuberous sclerosis. The following section is a transcription, translated from Spanish, of a conversation I had with my mother detailing my life with tuberous sclerosis from the fetal stage until I was about eight years old.

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“

The story starts when I was in the third stage of pregnancy and I went for a regular pregnancy checkup. It was at the checkup that the doctor noticed that Erick’s heartbeat was irregularly fast. So, the doctor proceeded with various tests to ensure that I was not providing these cardiovascular readings. The doctor had thought if I was the one with the irregular heartbeat, then Erick was probably not breathing normally. The doctor tested for blood pressure and other things when she realized that the irregular heart palpitations might be coming from Erick. So, the doctor performed a sonogram and confirmed that her suspicions were correct. It was at that moment where the doctor told me that Erick had a very abnormal heartbeat and became very worried. The doctor then proceeded to apply light pressure to my stomach and noticed that Erick’s heartbeat would increase in speed. At this moment, my primary care physician recommended that I need to go to Holy Cross Hospital, so that the doctors can perform an ultrasound to give a more precise diagnosis.

However, once the ultrasound was performed, the doctor at Holy Cross came to the same conclusion as my primary care physician. Within the following days, I kept returning to Holy Cross so that the doctors could continue to monitor Erick until the ninth month of pregnancy came. Every time I came to Holy Cross, the doctors continued to monitor Erick’s heartbeat but soon discovered that Erick started developing changes within the womb.

——The ultrasounds then began to show that Erick had growths on his brain and heart.

They kept this discovery under close surveillance and scheduled a final consultation date on the week before Erick’s due date. When I arrived for the consultation days later, one of the doctors at Holy Cross informed me that I could not have a normal birth. She explained that if I did, then Erick could go into shock and cardiac arrest.

Therefore, they recommended that I have a caesarean section in order to deliver Erick. The c-section had to be done as soon as possible so they scheduled a new planned due date for Erick on the week of October 26th, 1997 at Holy Cross Hospital.

When I arrived for my c-section in the morning, I did not have any contractions at all.

However, since the doctors have stated that Erick had to be born on this date, the hospital staff decided to put me in an observation room to wait for labor to start for 30

about 48 hours. During these 48 hours, I was kept in surveillance so that the doctor could closely monitor Erick.

—— On one of the nights, the doctors noticed that Erick suddenly started showing signs of cardiac arrest. Therefore, the doctors decided that it was time to induce labor at this point and injected me with a labor inducer and anesthesia in my lower back. Seconds after the injection, Erick went into the early stages of cardiac arrest.

There was no way to stop this from happening and there was no way to save me either. So, they told me that there was a tough decision that had to be made soon.

They said that if I remained in Holy Cross Hospital, then the doctors can only save me or Erick. The doctors at Holy Cross decided to keep me in observation for about an hour more until they concluded that Erick would not survive the amount of pressure that came with a birth. While inside the womb, Erick kept having small seizures and was not doing well. The doctors then decided to transport me to Johns Hopkins Hospital in Baltimore by helicopter in a state of emergency. I lost all recollection of time then and the transport felt like it was seconds before we arrived there. The only thing I remember once we got there was that upon arrival, doctors from many areas began to rush out and quickly get me inside. It was that point when doctors had told me that Erick was dying, and doctors were trying everything to keep Erick alive. The choice between Erick’s life and mine was still on the table, but the doctors decided not to take it. So, the doctors opted for immediate surgery to get Erick out of the womb and this surgery was very quick to the point where I still felt where they had cut me. Once Erick was out, I only caught a quick glimpse of him before they put him in incubation and hooked him up with a lot of wires and sent him to intensive care. At that point, I didn’t know what had happened to my son.

——After 24 hours, I felt fine, but I was just worried about my son. The last thing I could remember was seeing my son being placed in incubation, hooked up to many wires, taken into intensive care. At the moment, I kept asking myself, “Where is he?

Where is my son?”. It was not until 24 hours later that I was given my first update on Erick’s condition. About three days after Erick’s birth, I was taken into a hospital conference room where medical professionals, cardiac specialists, and other doctors 31

were meeting, and I sat with them. These people then gave me frightening news. The diagnosis that they all gave made me question what I was going to do to help my son.

The professionals gave me every worse-case scenario possible in regard to Erick’s condition and it scared me. They told me many things like “Erick would not grow”, “Erick would not live to a certain age” and that “Erick would have trouble learning and would have epilepsy.” The medical professionals also said that Erick would have major emotional and behavioral issues. Ultimately, they gave me his definite diagnosis, he had tuberous sclerosis. Regardless, I decided to take care of my son.

Once my son and I left Johns Hopkins, we were referred to the local Children’s Hospital with a good cardiologist. Erick had the same cardiologist assigned to him until Erick was eight years old and he was constantly monitored. The first year was important because Erick and I had to go to the cardiologist every month. ­­­­——The first month after Erick’s birth, however, was tough because I had to take Erick to the cardiologist every two days in order to keep him monitored. At this point, Erick’s problems were mainly cardiovascular with cardiac rhabdomyomas on his heart, open heart arteries, and growths on his brain. When Erick was about one month and eight years old, Erick needed to wear a heart monitor to capture his cardiac actions for a specific amount of time and I needed to deliver it in a special manner to this cardiologist. During that period, his cardiologist never saw any abnormal heartbeat irregularities except for one thing: Erick had open arteries in his heart that needed to be surgically repaired as soon as possible. Erick had to undergo an eight-hour closed heart surgery in order to close his artery when he was about eight or nine years old. The surgeon explained to me that he will be closing Erick’s artery with gel-like tubes that will keep his heart beating normally. If this procedure was not done, then the doctor feared that Erick would be more susceptible to infections and cause further harm. Therefore, the procedure had to be done and upon completion, the surgeon successfully closed Erick’s arteries and removed a large rhabdomyoma from his heart. One side effect that the doctor warned me about was that Erick would have slight abnormal breathing problems throughout his life. But, thankfully, this was the only surgical procedure that Erick had to go through 32

as a child. Since then, I only left Erick with trusted family members to take care of him while I was at work. I only left him for a couple of hours at a time because that I knew that Erick needed a lot of parental attention because of his condition. Yet, Erick continued to surpass any medical expectation that was given to him by professionals.

I saw that he never experienced epileptic seizures and never regressed in his education as he continued to grow physically. I consider myself blessed that Erick never experienced any of those tuberous sclerosis-related symptoms for he was able to grow up to be a bright, young man.

�

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Tuberous Sclerosis and I One of my earliest memories in regard to my condition is going in for my closed cardiac surgery even though I had no idea why I needed the surgery. I do remember some of my visits to my cardiologist as a child where I left with a heart monitor that I had to carry around. From what I remember, the heart monitor looked like an old Walkman player that was inserted into a fanny pack. The monitor also had four cables attached to it that had adhesive pads on every end. Essentially, the cardiologist would place the adhesive pads in four specific places on my chest to monitor heart 34

activity. My cardiologist would then put a shirt on me made up of thin fabric to prevent outside contamination. Then, the cardiologist put the monitor in its fanny pack, and I had to keep it with me for a specific amount of time. The monitor kept a record of every reading that my heart would make. For example, if I cried or ate, then my heartbeat would accelerate, and that reading would be recorded into the monitor.

I was allowed to take off the monitor for specific occasions like taking a shower if needed. My mother told me once that I never liked wearing my heart monitor as a baby because of the allergic reactions I would get from the adhesive pads that the heart monitor wires were connected to. I remember that I had to wear my heart monitor until I was about eight because my cardiologist said that heart activity seemed to stabilize, but my mom needed to pay close attention in case something happened. ­——As the years progressed, I haven’t exhibited major symptoms related to tuberous sclerosis until I reached my adolescence. In other words, any symptoms that I did exhibit were mainly physical. When I was about thirteen years old, I noticed that I started to get red dots across my face and my primary care physician assured me that it was not acne. Within time, these dots became more predominant and began 35

to appear in my nasal folds. The dots became dimensional and resembled facial angiofibromas. Then, small and strange growths appeared near my nail which I now know is called ungual fibromas. On the right side of my forehead, a patch of skins began feeling rough and appeared bumpy. Cysts began to grow on my scalp when I was sixteen. As a teenager, these types of growths mainly affected me emotionally.

The cysts on my head grew to a size where I couldn’t cut my hair short because I knew that people would see them. My self-esteem was low in high school because of these issues and I wanted to distance myself away from social interactions as much as possible. However, there was a point in my life where I decided that something had to be done to help alleviate my emotional stress. During my last two years of high school, I decided to visit a dermatologist in Germantown, Maryland. This dermatologist said that there are some procedures that can be done and there are other factors that cannot be controlled so easily. One thing that could be done was the surgical removal of the benign cysts on my scalp and some of the facial

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angiofibromas on my face. Although, like I mentioned before, there were some things that the dermatologist could not fix. Some of the facial angiofibromas in my nasal fold could not be removed but my dermatologist did prescribe topical cream to alleviate any irritation and redness.

——When reading about tuberous sclerosis complex, I learned about the term “self-efficacy” and it really resonated with me. Until recently, I did not have the confidence in my control of myself because of my defects. On the other hand, I am slowly learning self-acceptance. I am understanding that these tuberous sclerosis manifestations do not define me, only I do. There might be days where I might feel down again, but I find it important to look at myself in the mirror and just smile.

——This is part of the reason why I decided to write about this topic. I did want to gain more of an understanding of this condition that I have lived with for all my life. But I also wanted to write about this topic for anyone who has been affected by TSC and picks up this book. I want to do my best to join advocacy groups or organizations to increase awareness about this issue. I want them to know that they are not alone, and I am here with them.

37

Endnotes 1 ——“Tuberous Sclerosis Fact Sheet.” National Institute of Neurological

18——Kwiatkowski, et al., 15.

Disorders and Stroke. U.S. Department of Health and Human Services.

Accessed April 1, 2020. https://www.ninds.nih.gov/Disorders/Patient-

19——Kwiatkowski, et al., 291–292.

Caregiver-Education/Fact-Sheets/Tuberous-Sclerosis-Fact-Sheet 20——Kwiatkowski, et al., 16.

2——“Tuberous Sclerosis Fact Sheet.” National Institute of Neurological Disorders and Stroke. U.S. Department of Health and Human Services.

21——Ibid.

Accessed April 1, 2020. https://www.ninds.nih.gov/Disorders/PatientCaregiver-Education/Fact-Sheets/Tuberous-Sclerosis-Fact-Sheet

22——Kwiatkowski, et al.,17.

3——“Tuberous Sclerosis.” NORD (National Organization for Rare Disorders),

23——Kwiatkowski, et al., 17.

2019. https://rarediseases.org/rare-diseases/tuberous-sclerosis/.

24——Kwiatkowski, et al., 17.

4——Rodriguez Gomez, Manuel. “History of Tuberous Sclerosis Complex.” In Tuberous Sclerosis Complex, 3rd ed., 3–7. Oxford, UK:

25——Kwiatkowski, et al., 13-14.

Oxford University Press, 1999. https://ebookcentral-proquest-com. mutex.gmu.edu/lib/gmu/reader.action?docID=273322

26——Kwiatkowski, et al., 13-14.

5——Rodriguez, “History of Tuberous Sclerosis Complex.”

27——Kwiatkowski, et al., 18.

6——Rodriguez, “History of Tuberous Sclerosis Complex”

28——Kwiatkowski, et al., 230-231.

7——Rodriguez, “History of Tuberous Sclerosis Complex”

29——Kwiatkowski, et al., 231-232.

8——Kwiatkowski, David J., David J. Kwiatkowski, Vicky Holets. Whittemore,

30——Kwiatkowski, et al., 231-232.

and Elizabeth A. Thiele. Tuberous Sclerosis Complex Genes, Clinical Features and Therapeutics, 4. Weinheim: Wiley-Blackwell, 2010.

31——Kwiatkowski, et al., 236.

9——Kwiatkowski, et al., 4.

32——Kwiatkowski, et al., 239-240.

10——Kwiatkowski, et al., 4.

33——Kwiatkowski, et al., 239-240.

11——Kwiatkowski, et al., 4.

34——Kwiatkowski, et al., 244-245.

12——Kwiatkowski, et al., 4.

35——Kwiatkowski, et al., 244-245.

13——“Tuberous Sclerosis Fact Sheet.”

36—— Kwiatkowski, et al., 244-245.

14——“Tuberous Sclerosis Fact Sheet.”

37——Kwiatkowski, et al., 263-264.

15——Learning About Tuberous Sclerosis. 2012. Accessed April 1, 2020.

38——Kwiatkowski, et al., 391-392.

https://fod.infobase.com/PortalPlaylists.aspx?wID=96306&xtid=53730.

39——Our Story- TS Alliance. Tuberous Sclerosis Alliance. Accessed 16­——Kwiatkowski, et al., 15.

17——Kwiatkowski, et al., 15.

April 2, 2020. https://www.tsalliance.org/about-us/.

Bibliography Gomez, Manuel Rodriguez., et al. Tuberous Sclerosis Complex. 3rd ed., Oxford University Press, 1999.

Kwiatkowski, David J., et al. Tuberous Sclerosis Complex Genes, Clinical Features and Therapeutics . Wiley-Blackwell, 2010.

“Learning About Tuberous Sclerosis.” Films Media Group, 2012, fod.infobase.com/ PortalPlaylists.aspx?wID=96306&xtid=53730. Accessed 1 Apr. 2020.

“Tuberous Sclerosis Alliance.” NORD (National Organization for Rare Disorders), rarediseases.org/organizations/tuberous-sclerosis-alliance/.

“Tuberous Sclerosis Fact Sheet.” National Institute of Neurological Disorders and Stroke, U.S. Department of Health and Human Services, www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Tuberous-Sclerosis-Fact-Sheet.

Photo Credits pg. 9

Wikimedia Commons contributors, “File:Désiré-Magloire Bourneville.jpg,”

Wikimedia Commons, the free media repository, https://commons.wikimedia.org/w/index. php?title=File:D%C3%A9sir%C3%A9-Magloire_Bourneville.jpg&oldid=250359940 (accessed May 1, 2020).

pg. 9

Wikimedia Commons contributors, “File:TuberousSclerosis-Rayer-ColourSmall.jpg,”

Wikimedia Commons, the free media repository, https://commons.wikimedia.org/w/index php?title=File:TuberousSclerosis-Rayer-ColourSmall.jpg&oldid=289516540 (accessed May 1, 2020).

pg. 13

Falsafi, Parisa & Taghavi-Zenouz, Ali & Khorshidi-Khiyavi, Reza & Nezami, Nariman

& Asghari Estiar, Mehrdad. (2015). A Case of Tuberous Sclerosis Without Multiorgan Involvement. Global Journal of Health Science. 7. 10.5539/gjhs.v7n5p124.

pg. 13

https://upload.medbullets.com/topic/120327/images/ashleaf.jpg

pg. 13 https://healthjade.net/angiofibroma/

pg. 14

https://dermnetnz.org/topics/tuberous-sclerosis/

pg.14

https://dermnetnz.org/topics/tuberous-sclerosis/

pg. 14

http://www.pcds.org.uk/clinical-guidance/nails

pg. 15

http://www.pcds.org.uk/clinical-guidance/nails

ABOUT THE AUTHOR Born in Baltimore, Maryland, Erick Argueta always leaned toward the creative side of life. Argueta had to find any canvas he could get his hands on in order to express his ideas. Yet, when he came to be the age of 13, he looked for a way to transcend his fascination into a career. He soon became aware of the graphic design business, thanks to a volunteer (who was also a graphic designer) at a local after-school program. ——During his time in high school, Argueta enrolled in the Digital Design and Printing Methods course at the Career and Technology Center in Frederick, Maryland. It was at the CTC where he gained knowledge of graphic design and admiration for the business grew. After receiving his diploma, Argueta took his interests to George Mason University In Fairfax, Virginia. He is currently continuing to hone his abilities as he pursues a Bachelor of Arts degree with a concentration in Graphic Design.