Marfan Syndrome Awareness for Rare Disease Day

Today marks the end of Marfan Syndrome Awareness Month, as well as Rare Disease Day 2018! I was planning on posting earlier in the month about Marfan syndrome, but it’s been a very busy month. The good news is, by posting today I can accomplish two things at once- raising awareness for Marfan and rare diseases in general during their designated timeframes.

According to Global Genes, 30 million people in the United States have a rare disease, or 1 in 10 Americans. Additionally, 80% of rare diseases have genetic causes. Marfan syndrome is a rare disorder caused by a mutation in the FBN1 gene. This gene is responsible for telling the body how to make the protein fibrillin-1, which is one of many proteins that make up the body’s connective tissue. The Marfan Foundation website says, “This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome.” Connective tissue is often described as the “glue” that holds your body together. Therefore, Marfan syndrome causes problems in areas of the body where connective tissue is found. The heart, blood vessels, bones, joints, and eyes are most commonly affected. However, Marfan syndrome can negatively impact the lungs, skin, and nervous system as well. Some signs of Marfan syndrome are long limbs, a tall stature, thin body, flexible joints, flat feet, and a curved spine (scoliosis). Problems with the heart, most notably enlargement of the aorta, are also a sign of Marfan syndrome and can be life-threatening.

I hope this general overview of Marfan syndrome was helpful and informative! It is a complex disorder, so it’s difficult to fit everything about it in one blog post. The best resource for going more in depth about Marfan is The Marfan Foundation. Here, you can learn more about the specific ways Marfan affects the body parts and systems I mentioned in this post. You can also find out how Marfan syndrome is diagnosed, where to find doctors that treat it, and what the signs of aortic dissection (a life-threatening occurrence that Marfan patients are at risk for) are. Awareness is key in understanding Marfan and obtaining treatment, so please share this post with others who may not know about it. I will be writing more about Marfan in the future, as well, so stay tuned!

Advertisements

What Determines a Legacy? Reflecting on MLK Day

“Life’s most persistent and urgent question is, what are you doing for others?”

Dr. Martin Luther King, Jr.

I’ve been reflecting on what it means to leave behind a legacy on this day dedicated to Martin Luther King, Jr. Although the entirety of the American civil rights movement cannot be attributed to just one person, King is undoubtedly its most prominent figure. He amplified the voices of the African American community, speaking out against racial injustices and advocating for change on a massive scale. We remember him today, even after his death, because of the positive legacy that he left behind.

“Legacy. What is a legacy? It’s planting seeds in a garden you never get to see.”

(The World Was Wide Enough, Hamilton: An American Musical)

Drawing from the words and actions of Martin Luther King Jr. and the lyrics above by Lin-Manuel Miranda, I’ve realized that the only way to leave behind a positive, lasting legacy after you die is by living for others. If you live only for yourself, you aren’t making the world a better place. You must impact others in order to make a change. Otherwise, you have no legacy- your life dies with you if you only live it for yourself. When I remarked to my mom that I want to die having left the world a better place, she said, “Maybe it’s not about the whole world recognizing what you’ve done. Maybe it’s about the little things you do everyday- those are what add up to big things.”

I don’t think that living for others means you should neglect your own happiness. After all, doing small good deeds and speaking up for what matters to you is fulfilling in its own right. Actions may speak louder than words, but speaking up and making your voice heard is the first step towards change. Your words can rally others to action, too. Activism looks different for every individual- that’s the beauty of it. At the end of the day, your legacy will reflect your unique vision for the world and the steps you took to achieve that.

Book Review: Disability Representation in “Tower of Dawn” by Sarah J. Maas

“Using the chair is not a punishment. It is not a prison,” he said. “It never was. And I am as much of a man in that chair, or with that cane, as I am standing on my feet.”

Chaol Westfall, Tower of Dawn

If there is one word that sums up my reaction to Tower of Dawn, it’s “wow”.

I went into this book with very low expectations, due to the fact that so many bestsellers featuring disabled characters romanticize illness and are just an overall terrible representation of it. Sadly, they’re bestsellers for just that reason; authors with no firsthand experience or knowledge about disabilities write them, and the same type of people buy them and review them. Authors and filmmakers continue to profit off of tragic disabled love stories, while simultaneously misinforming the public about the reality of living with an illness/disability. People with disabilities are the largest minority in the U.S. and the world, yet we still lack realistic representation in the media and our basic accessibility needs are not met. Our voices are constantly silenced and ignored when we speak up against ableism. Therefore, it shouldn’t come as a surprise that I was wary of this book.

In addition to being concerned about disability representation, I was also not pleased with Sarah J Maas as of late due to her portrayal of POC and queer characters in her other books, as well as the continuation of problematic relationships between certain characters. These issues weren’t all resolved in this book- she is making some improvements, but still has a long way to go, both in this series (Throne of Glass) and A Court of Thorns and Roses. However, I can confidently say that disability representation in Tower of Dawn is something she has excelled at.

At the beginning of the book, Chaol is struggling both physically and emotionally. He has come to resent his injury and the loss of independence that comes with it. From people moving his wheelchair without his consent and lack of accessibility to pitying and demeaning looks and attitudes, Sarah J. Maas presents a detailed, accurate portrayal of a day in the life of a wheelchair user. Although I am just a part-time wheelchair user, I am familiar with these struggles. My illnesses are very unpredictable in nature (I have chronic pain, decreased pulmonary function, and low muscle tone due to Marfan syndrome and fatigue, dizziness, and irregular heart rate and blood pressure due to POTS) so I can be walking one day and dependent on a wheelchair for mobility the next. Chaol, on the other hand, was extremely active and completely healthy before his spinal injury. As Captain of the Royal Guard, his duties were heavily dependent upon his fitness and mobility. In just one moment, his physical abilities are taken away from him and his sense of purpose along with them. The world as he knows it is turned upside down. Chaol’s emotional decline is just as significant as his physical one. I can’t begin to imagine how difficult it is to have such a vast array of capabilities one day and lose almost all of them the next- with my illnesses, I’ve had limitations since I was young and my health has been a slow decline, not a sudden one. Chaol has to unexpectedly reevaluate who he is at the core and what determines that, coming to terms with his disability with no warning whatsoever.

“You would be surprised by how closely the healing of physical wounds is tied to the healing of emotional ones.”

Yrene Towers, Tower of Dawn

This quote is one that can easily be misinterpreted, but it sums up Chaol’s emotional journey and growth throughout the entire book. Since Chaol was injured by dark magic- it is a fantasy novel, after all- the nature of the injury itself and the healing process don’t resemble typical spinal injuries. The dark magic festers off of his insecurity and self-loathing, resisting attempts at treating and healing his body. Learning to accept his emotions and himself as a person ends up being the determining factor in Chaol’s recovery. Yrene helps him immensely with this; she provides support every step of the way, but doesn’t pity him or coddle him. She gives Chaol the resources he needs to recover, but emphasizes that it’s ultimately up to him, due to the emotional aspect of his recovery. In my opinion, Maas handled this very well. I don’t get the impression that Chaol’s illness is “all in his head”, like many of us with illnesses/disabilities are told. Magical injury or no, physical illness and disability can be very stressful and isolating, and mental illnesses such as anxiety and depression aren’t uncommon. Chaol’s path to acceptance of both his disability and his emotions is a very realistic one. I applaud Sarah J. Maas for the sensitivity which she handled this with and the empathy required to do so. She definitely did her research and put a lot of careful consideration into the storyline.

In conclusion, this book was a breath of fresh air in a genre that is severely lacking realistic portrayals of disabled characters (and the inclusion of them at all). Although Maas definitely has separate issues with minority representation/diversity that need to be addressed in her other books, Tower of Dawn left me surprisingly optimistic about the possibility of overall improvement. If she was able to tackle disability in such a genuine manner, I’d hope she can take the time to listen to the concerns of her readers regarding the aforementioned issues. As for the character of Chaol himself, the personal growth he was lacking in previous books takes center stage in this one. When combined with the introduction of Yrene, an incredibly authentic and empathetic character, as well as the positive aspects of the book unrelated to disability, Tower of Dawn is undoubtedly some of Maas’s best work.

The Struggle of Being Undiagnosed

We grow up thinking that the world is black and white. You’re sick? Go to the doctor, and they’ll help you feel better. It’s an easy fix. Unfortunately, as we grow, we realize that it’s not entirely that simple. Doctors can’t always help. People die of cancer and other illnesses. At least doctors can identify the problem, though, right? That’s what they went to school for, after all.

I, like many others, used to believe that illnesses could be diagnosed and hopefully treated, even when there wasn’t a cure. After all, I was diagnosed with Marfan Syndrome at a young age- I was always aware I couldn’t be cured, but I knew that there was certain precautions I had to take when playing and certain medications that would help my heart stay safe. Naturally, I assumed that was how other illnesses worked, too. Even if there wasn’t anything that could be done about them, I thought doctors had a name for and knowledge of everything.

Unfortunately, I was wrong. I learned that illness isn’t black and white, because now I reside partially in the gray area. A few years ago, I was sent to see a hematologist because of problems with excessive bleeding. These problems weren’t new, but they were persistent. My family and I had never made much of them; sure, they were annoying, but we were used to them. It was a resident in the ER that referred me to hematology after a particularly bad nosebleed. Flash forward a few years. I’ve been “diagnosed” with an undiagnosed platelet disorder. Countless tests have been run; new ones and old ones repeated several times. The results are always borderline or low-normal. I’m being treated for a platelet disorder, with infusions before surgeries and emergency medication to stop bleeding, but no one has been able to identify what the problem with my platelets is, exactly. Last year, I read a journal about something called delta storage pool deficiency that seemed to occur within a subset of POTS (Postural Orthostatic Tachycardia Syndrome) patients. I have POTS, and reading through it, I identified with almost all the symptoms. I had newfound hope that I might finally have a diagnosis, because I hadn’t been tested for delta storage pool deficiency, due to its uncommon nature and the level of specialization of the test. It took forever to figure out the logistics of insurance covering the blood work, because the only hospital that analyzes it in the region is a few states over. Finally, my doctor figured out the mess with insurance and I was able to get the blood work a month ago. I only got the results 2 days ago… they were normal. I had put so much hope for answers into that one little tube of blood, and again I’m left with nothing. Just to be clear, I don’t want somethingto be wrong with me. But my doctors and I know there is. We want a name for it, so we know for sure if and how it can be treated. And if it can’t, at least I have comfort in knowing what’s responsible for my body malfunctioning. It sounds silly, but I’ll have something to blame when things go wrong. There’s much more despair and hopelessness in not knowing than what one would expect.

The bigger problem is, being undiagnosed isn’t just one piece of the puzzle that is my life. It’s several pieces. I’ve been bounced around from specialist to specialist for years, but even more so this year. Instead of leaving with answers, I leave with more questions and a referral to yet another doctor. Most recently, my pediatrician referred me to allergy/immunology because we suspected mast cell activation disorder. I had many of the symptoms, and my chronic migraines were responding to an antihistamine. During my appointment, the doctor asked if I’d had frequent pneumonia. Yes, I have. In fact, practically every fall/winter I go through a vicious cycle: sinus infection, bronchitis, pneumonia. I see a pulmonologist, but she wasn’t able to figure out why this kept happening or how to help it go away. After I explained this to him, he said he wanted to run some tests checking my pneumonia antibodies and other things, not just a mast cell activation disorder workup. I agreed, because I was already getting my blood drawn and thought, better safe than sorry. Well, the results come in. Normal for MCAD, normal immunoglobulin and histamine levels, but incredibly low levels of pneumonia antibodies. The doctor ordered the pneumonia vaccine to see if my body responds and builds those missing antibodies and blood work to check them six weeks after the vaccine. He also referred me to a colleague who does immunology and rheumatology, since I hadn’t seen that specialty before and he thought it would be helpful. The new doctor was incredibly kind and honest; in his words, I’m “very interesting and complicated,” which will be the title of my autobiography, at this rate. He said that even though he could diagnose me with MCAD without positive blood work, he didn’t want to, because I have symptoms that are similar, but don’t fit exactly into that category (or any specific allergy category) and he didn’t want them overlooked. I appreciated how candid he was, and the fact that he shared my views about being bounced around to new specialists time and time again. By this point, I’ve seen almost every major department in my hospital. Despite that fact, I still wasn’t expecting him to suggest I go to the undiagnosed disorders clinic at the National Institute of Health. It definitely caught me by surprise, but I understand his reasoning and am glad he’s not sending me to yet another department at the hospital (with the exception of dermatology, solely for a biopsy of the rashes that we initially thought were related to MCAD). He still wants to me to follow up with him, and ordered blood work to test for autoimmune disorders (Sjögren’s syndrome is the main one we suspect) in addition to running the pneumonia antibody panel again. I just got those done last week.

Here I go again, putting my faith in tiny test tubes. I often wonder how something so small can hold so much power, and affect my life so drastically. It’s been about 4 years now that I’ve resided partially in this gray area, and I wonder if that will ever change. Four years of blood work several times a year. Of being passed on to someone who might know more, time and time again, because I’m “complicated”. Dozens of apologies from doctors who just can’t figure me out, and multiple new questions and symptoms/side effects for every one answer and treatment plan I’m presented with. My body may be my home, but that doesn’t mean it’s easy to live in.

Why I Don’t Want You to Comment on My Weight

“You’re so skinny!”

“¡Que flaca eres!”

“Wow, you’ve gained weight!”

“¡Nena, te estás poniendo gordita!”

In any language you speak, you’re bound to encounter someone who’s more than willing to comment on your weight. Whether it’s a well-meaning relative, a nosy stranger, or rude person on the internet, the message is the same- your appearance, in their eyes, is something that is open to critique. The problem is, it shouldn’t be. Your appearance, weight especially, is a delicate subject and a very personal one. There is a variety of factors that contribute to a person’s weight; it’s not black and white.

At the end of May, I started a new medication for my migraines. It’s actually been working, which is a pleasant change from other medications. The problem? Like other meds, it doesn’t come without a cost. In this case, the price I have to pay for relief is dealing with one of the unwelcome side effects: weight gain. I gained 10 pounds immediately after starting it. 10 pounds may seem insignificant, and it’s not much compared to what others go through. However, I’ve had a hard time adjusting to this change, as someone whose weight stayed constant for months. I also went through surgery to remove my gallbladder in March, and was finally becoming comfortable with my scars and how my body looked after that- adding weight gain to the mix now is a bit overwhelming.

If you can take one lesson from my experience, let it be this- gaining weight might not be inherently bad, and losing it may not necessarily be something to celebrate. Gaining weight may be associated with positive changes, such as reduced migraines, in my case. On the other hand, losing weight might be a result of someone needing to stop a medication that was helping them. Chronic illness comes with a variety of challenges, and criticizing someone’s weight gain or complimenting their weight loss may aggravate an already sore subject. Please, think twice about what you say, and don’t comment on my weight, even if it’s a compliment.

When Do We Let Go of What We Want, and Focus on What We Need?

It seems like it’s human nature to always seek something to accomplish in life. Not just small things, but big things. Conversely, we make the small things appear crucial to our success. In order to be successful, we believe that we must get everything right, down to the smallest detail. When we mess up- when, not if, because we’re bound to mess up eventually- we’re overly harsh on ourselves. How are we going to accomplish the wonderful things we have in mind, we wonder, if we can’t even get simple tasks done right? We’re constantly pressuring ourselves and ignoring our needs for the sake of following our dreams. It may not be easy, and we may lose ourselves along the way, but it’s worth it- at least that’s what we tell ourselves. We’re pushed to follow our dreams, either by ourselves or others, but at what cost? When does our quest for success stop fulfilling us, and start destroying us?

Ambition and perfectionism are a double-edged sword. They are incredibly powerful motivators, but they also have the power to destroy. The line between want and need can quickly become blurred. I’ve learned this the hard way. Living with chronic illness forces me to choose my battles, and I tend to bite off more than I can chew. I convince myself that I can do everything I want, while still listening to my body and taking care of my physical & emotional health. Unfortunately, that’s easier said than done. Balancing the two requires sacrifice.

My grades and schoolwork have dictated my life for longer than I can remember. I’ve always seen success in school as my escape from the limitations of chronic illness. My body might be failing me, but my intelligence isn’t. When my doctor exempted me from gym class, I replaced that free block with an AP class. I honestly don’t remember a time when I’ve ever passed up a chance to challenge myself academically. That’s just who I’ve always been- an overachiever. Recently, some worsening health issues have caused me to reconsider this mindset. Just because I can do something doesn’t mean that I should. Years of prioritizing academics over my physical and emotional wellbeing have taken their toll on me. I’ve pushed my body and my mind past their breaking point. Not to say that I wouldn’t be sick if I had been easier on myself, but I might not be lying awake every night, hating my body for betraying me when I need it the most; hating my mind for worrying nonstop about how I could manage to finish all my missing schoolwork over the summer. I might not be agonizing over due dates long gone and terrified to open my email, in case I got the dreaded message confirming that I had failed, despite my best efforts.

Well, last Friday I finally got an email like that. I had failed two tests for my AP class. My teacher had already suggested I drop the class months ago, but I refused to quit. Now, I was left with the choice of dropping the class with a passing grade, or having those test grades put in and hoping for some sort of miracle that would allow me to finish the months of missing work I still had, and making sure I didn’t fail any of those assignments. I would also need to do that for three other subjects simultaneously. I had enough. I couldn’t continue living like this, my life a blur of missing work, doctor’s appointments, and never-ending stress & tears. Yesterday, I saw my school counselor. I dropped not only my AP class, but also my honors science class. I had already taken the corresponding AP test for that class, so I may still receive college credit for it (I don’t have my hopes up, though). I’ll be retaking that science class next year- I’ll just be at grade level in science instead of a year ahead. It was a tough decision, but I’m surprisingly okay with it. I decided to let go of what I want, and focus on what I need. I want to have a perfect high school transcript and 4.0 GPA. However, I don’t need this, and will never achieve it if I don’t give myself time and space to recover. I need to be more gentle with myself, and realize that the decision I made wasn’t quitting if it’s what’s best for me. If I kept subjecting myself to unreasonable expectations, I would be giving up on my health, which is what I should be prioritizing. I still have other school subjects to take care of over the summer, but I finally feel like a weight has been lifted off my shoulders. I have a manageable workload and a reasonable plan- I couldn’t be happier.

“Do Not Let That Light Go Out.”

Weariness- this is a feeling that those of us living with chronic illness know all too well. Day in and day out, we push past our limits to accomplish basic, everyday tasks. These tasks are finished quickly by average person, without being given a second thought. To us, they seem like a marathon. We have to weigh the costs vs. benefits of doing them- will taking a shower leave us with enough energy to do our homework (or housework, for those not in school)? It’s a balancing game, one that often leaves us hanging off the edge of the tightrope. The longer we do this, the harder it gets.

It becomes increasingly difficult when there are very few people we can trust to stand by us and to catch us when we fall. We begin to lose hope, wondering if we will ever move forward and leave this dark place behind us. In these times, we must remember that there is no light without darkness. We need to hold on, and continue to hope.

Do not let that light go out.” Nehemia to Celaena, Crown of Midnight (Throne of Glass Book 2, by Sarah J. Maas)

This quote has stayed with me since I read that book in December. Nehemia knew her friend Celaena was in a very dark place. She knew how hard it was to hope, and how easy it was for Celaena to let go. Yet, she did everything in her power to keep her friend on the right path. This simple quote is what keeps Celaena anchored. After reading it, it keeps me anchored too.

We can hate the world for putting us in a difficult situation- such as battling chronic illness- and let our light go out, or we can continue to persevere and nourish the light inside of us. When we can’t do this by ourselves, we must try to surround ourselves with people who will lift us up and encourage us to keep fighting. It is certainly easier said than done, but it is worth it.

Always remember that you are loved, and that you can do it. You can fight this battle. Do not let that light go out.

– Nicole ❤️<<<<<<<