Tag: Turner syndrome

Turner Syndrome and Disability

Charli Dee4 Comments

So I’ve recently been denied a service for people with disabilities. This wouldn’t be the first time, but that doesn’t make this situation any less frustrating. I’ve mentioned on my blog before that I am a person with a disability. The problem is that my disability is very unclear. I have an invisible disability, and often others can’t understand what exactly is wrong with me. My physical and intellectual abilities seem to be very much intact. What could I possibly need with disability services, right? Sometimes I even question whether or not I am a person with a disability myself because of all the doubt around me. However, while people are deciding whether or not I am actually a person with a disability, my struggles are very much real, and I deal with them everyday. 

I’ve talked about the condition that I have on my blog many times. I have a genetic disorder called Turner syndrome, and it’s the reason for my struggles. Having Turner syndrome does not automatically make a person disabled, however, it can lead to disability. Tuner syndrome can lead to many complications. One of those complications is learning disability. Unfortunately, this fact is not very well known, because Turner syndrome is not well known. Also, girls with Turner syndrome can lead normal lives with proper treatment. However, every girl with Turner syndrome’s experience is different, and some do struggle more than others. 

Another issue is the type of disability that girls with Turner syndrome sometimes have. Turner syndrome can lead to nonverbal learning disability. This means they can have issues with visual-spatial skills. Unfortunately, nonverbal learning disability is still not recognized as an official disorder. 

All of these combined issues make it hard for me to get the services I need. People simply don’t understand my struggles, and don’t understand why I need help. What is really needed is more awareness on both Turner syndrome and nonverbal learning disability. What is also very needed is an understanding that every person’s experience is different. Not every person with a disability has a disability that is obvious. 

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Is Turner Syndrome an Intersex Condition?

Charli Dee2 Comments

I have mentioned many times on my blog that I have Turner syndrome. Google “Intersex”, and you will see many websites list Turner syndrome as an intersex condition. However, there is a lot of debate on which conditions under the umbrella of Intersex are actually Intersex conditions. Intersex conditions have been a hot topic for a while now, so as someone with what is considered an intersex condition by some, I thought I’d add my two cents. 

First thing first, what is “intersex”? The American Psychological Association describes intersex as “a variety of conditions that lead to atypical development of physical sex characteristics…These conditions can involve abnormalities of the external genitals, internal reproductive organs, sex chromosomes, or sex-related hormones”. The term “intersex” was coined in 1917 by German geneticist Richard Goldschmidt when he noticed the phenomenon in gypsy moths while studying them. “Intersex” started being used commonly as a term for humans with certain genetic conditions in 1993 due to a research article written by American biologist Anne Fausto-Sterling.   

In her article, Fausto-Sterling states that approximately 1.7 percent babies born worldwide are intersex. American psychologist Leonard Sax responded that the number of people with intersex conditions is actually far lower than 1 percent, and shouldn’t include conditions like Turner syndrome where the person’s phenotype is clearly male or female (meaning the person looks like a typical male or female with the typical male or female genitalia). This is the reason for the intersex debate. 

In 2006, the term “Disorders of sex development” was introduced in the medical world. Medical professionals believed the term was easier to define and explain than “Intersex”. However, there is a lot of controversy over this term. Many intersex advocates believe the “Disorders of sex development” does more harm. For instance, many intersex babies undergo surgeries, often unnecessary ones that can cause permanent damage, in order to make the bodies of these babies fit what society deems a typical male or female body. Changing “Intersex” to “Disorders of sex development” medicalizes the bodies of intersex people even more. However, using “Disorders of sex development” gives room for the inclusion of conditions like Turner syndrome, because pretty much all disorders that affect sex development are under that umbrella.

So is Turner syndrome an Intersex condition? That is still up for debate. In my humble opinion though, no, it is not. People with Turner syndrome are all women born with a genetic disorder. There is generally no ambiguity on whether someone with Turner syndrome is male or female, and sex ambiguity is included in being intersex. Turner syndrome does, however, cause sex development issues, like not being able to go through puberty without medical help, making it a clear disorder of sex development. 

Hopefully this post has helped someone, and I’ll see you in the next one!

What is Turner Syndrome: Coping with a Chronic Condition

Charli DeeLeave a comment

Picture taken from Unsplash

Hey everyone! February is Turner syndrome awareness month, and March is Women’s Month. I’ve shared a little bit about my experience with being a Woman with Turner Syndrome on this blog before, but for this post I thought I’d share a little more about my experience with the condition and how I cope with it. I hope it will be helpful to someone! 

What is Turner Syndrome?

Chromosomes are one part of the body that determines sex. It is well known that a Y and X chromosome means a boy and two X chromosomes mean a girl. Turner Syndrome is when a girl is born with only one fully functioning X chromosome. The other X chromosome is either partially or fully missing. Without a second fully functioning X chromosome, a girl’s body is unable to produce the hormones she needs to develop normally. 

This can lead to a lot of complications, because not only do these hormones help girls go through puberty, they are also needed for health, especially bone health. Due to the complication that can be present in Turner Syndrome, around 10 percent of all miscarriages are caused by the condition and 99 percent of fetuses with Turner Syndrome are miscarried. Some fetuses with Turner Syndrome who manage to make it to term get diagnosed at birth or even in the womb because of complications caused by the condition. I was diagnosed when I was a teenager. That is the time when many girls with Turner Syndrome are diagnosed, because that is around the time they should be going through puberty. 

How I Manage my Condition 

As previously mentioned, Turner Syndrome can lead to a lot of complications. In my case, two big issues are with my thyroid and my bones. Those issues have led to fatigue. I feel tired a lot. That has become an increasingly bad problem because of the responsibilities I have. Also, I’m a bit of a perfectionist, and I’m used to working hard. However, my issue with fatigue has been forcing me to pay more attention to my limitations. I’m learning to be ok with taking extra breaks and to feel comfortable with accepting help. Needing more rest or help does not mean I am weak or any less of a person.  

Since I have a weak constitution, exercise is very important. This is an area I struggle with very much, but one activity I do enjoy that gets my blood pumping is dancing. Not only does music I love lift my spirits, it does the job of getting my body moving. I especially enjoy when I’m able to get a little alone time and I can just put my music on blast! By the time I’m done having fun, I feel like I’ve just finished a good workout! 

How do you handle dealing with a chronic condition? Do you have Turner Syndrome too? Let me know in the comments and share any tips you might have! 

Why is healthcare so expensive?

Charli Dee2 Comments

This post was inspired by Scott over at Speaking Bipolar. His blog really gives a lot insight into what it’s like to live with Bipolar disorder. You can checkout his blog and the post that inspired my blog post by clicking here. 

Scott’s post was about his struggle with getting proper care for for his mental illness. It made me really think about my own experience with getting medical care. I live in the United States where health insurance can be very expensive, and some people can’t afford to go to a doctor. With healthcare being so expensive, getting help for mental illnesses can be difficult. Mental health is not really considered a priority, so even with assistance with health insurance, there is no guarantee a person seeking help with a mental illness will be able to get the help they need. 

As someone who is not only dealing with mental illness but a genetic disorder as well, I happen to be very fortunate. I was born with a condition called Turner Syndrome, and it can lead to a lot of complications. In fact, one of those complications led to surgery early last year. I also get blood tests done very frequently, along with other procedures, in order for my doctors to make sure I’m not developing any complications because of my genetic disorder. Moreover, I have been taking several medications since I was 13 years old. Now I am also on medication for my mental illnesses s well, and I go to therapy several times a week. All of my medications, tests, procedures, and therapy sessions cost a lot of money. Fortunately, I am fully covered by my insurance. I honestly don’t know where I would be today without the help I’m getting to pay for all of my medical expenses.

 There honestly needs to be a better way for people to receive medical that would be fair for the healthcare providers and the patients that would allow every person to receive the care they need. What is healthcare like where you live, and what has your experience with medical care been like? Feel free to share in the comments, and I’ll see you in the next post! 

I’ll wear it with Pride

Charli Dee10 Comments

“It looks like someone tried to chop your head off”, my father joked.

He was referring to the new scar on my neck. I’ve mentioned before in my blog that I have a a genetic disorder called Turner Syndrome. This condition can lead to a lot of complications, and one of those complications include issues with the thyroid gland. Blood tests were showing issues with my thyroid for a while. My doctor first decided to monitor the condition, but blood tests started to show that it was slowly getting worse and worse over time. She eventually suggested surgery. 

For those who are familiar with surgery procedures, I’m sure you already know that a lot of doctor appointments are involved to prepare a patient for surgery. Not only did I have an appointment to meet with the surgeon, I had a lot of appointments to make sure I was in good shape for surgery to begin with. It was definitely a stressful time, but I was just happy that my thyroid issue was being dealt with. I was so relieved, in fact, that there was no room in my mind to really think about the scar the surgery will leave.

After the surgery, my next priority was making sure I was getting rest in order to get better. Plus, there were bandages covering up the surgical scar. It wasn’t until about two weeks after the surgery when my doctor removed the bandage and stitches, but I didn’t see the scar until I reached home. 

“Awww. Now you’re gonna have a scar.”, one of my siblings said.

The healing process proved my sibling right of course. The surgical incision has healed pretty well, but it definitely left a scar. It also managed to form into a small, lumpy keloid that disturbs the otherwise smooth skin on my neck. However, my sibling’s lamentation over my scar is not what stuck with me during the healing process but her words right after:

“But I guess as people age and go through life signs of what they’ve been through start to show”.

Sometimes, what we’ve been through in life definitely does leave scars, whether physical or mental, and these scars tell our story. They are a reminder that we’ve been through some rough times, but we get through them, and that means we can weather through anything else that comes our way as well. This is how I’ve come to see my surgical scar. I thought I’d share this to give an idea of what’s been going on with me lately, and why I’ve been gone for a while. I also wanted to encourage anyone dealing with a rough situation right now that you will get through it even if it leaves a scar. Hope this post did the job, and I’ll see you in the next one! 

Joining Forces with World Supermoms: Embrace the Superhero in you

Charli Dee4 Comments

I am so excited to announce that I am collaborating with World Supermoms! With so many expectations on women and mothers, it can be difficult to be a woman! However, there is no such thing as the ideal woman or mother. World Supermoms is a nonprofit organization that uses their platform to help each mother and woman in general embrace what makes her special and unique. Recently, Supermoms reached out to me to republish one of my blog posts! That blog post is Imperfectly Perfect: My life with Turner Syndrome. This is perfect timing, since February happens to be Turner Syndrome Awareness Month! I am very proud of that post, and I am so honored that World Moms enjoyed it enough to republish it! If you haven’t taken a look at that post yet, visit World Supermoms to give it a look! Click here to read the post! Thank for this opportunity World Supermoms, and thankyou to my readers for visiting! Until next time! 

– Charli

Turner Syndrome and My Mental Health: A Second Helping

Charli Dee10 Comments

In a previous post, I mentioned that I have a condition called Turner Syndrome. For those unfamiliar with the condition, it is a genetic disorder when a girl is born with one of her X chromosomes partially or fully missing (boys generally have an x and y chromosome, while girls generally have two X chromosomes). 

The biggest issues with Turner Syndrome is that many girls with the condition are generally infertile, and can’t go through puberty on their own. They usually need hormone replacements. Turner Syndrome can lead to a host of other complications as well. Those complications can include problems with the heart, kidneys, bones, and thyroid gland. Complications vary from girl to girl. Each girl’s experience with the condition varies, and their symptoms can range from mild to severe. 

Girls with Turner syndrome can be diagnosed at any stage in life (before birth, at birth, during infancy, during their teenage, or during their adult years). Generally, the more severe the symptoms, the earlier a girl with Turner syndrome will be diagnosed. Most fetuses with the condition actually have symptoms that are so severe they never make it to term. Turner syndrome is a rare disorder that occurs in around 1 in 2,000 to 2,500 live female births. Around 99 of pregnancies where the fetus has Turner syndrome end in miscarriage.

I suppose that makes me a bit of a miracle baby, or so I like to think at times. I struggled with low self esteem growing up. I always saw nothing but my flaws, and the bullying and I went through during my time in school didn’t help. There was also the fact that I had disabilities and was very dependent on my family. I felt like a burden to them. No matter how hard I tried, I could never fully shake off those feelings, and I hated that. There would be times when someone would say or do something that would make me happy, or I would be doing an activity that would make me happy, but by the time I look around I’m back to feeling low. There would also be times when there was a reason I was down, and other times when I just couldn’t explain why I was feeling depressed. When I was a teen, I kept thinking that one day I will let those feelings go when I finally became an adult. I am now a fully grown adult, and still struggle a bit with these issues. I have learned that what I was going through was not just a phase, or something that I was easily going to get through.

Thankfully, I have a very supportive family. My family has been incredibly patient with me, and extremely supportive. To me, they have been like my therapists. They listen to my concerns, and even encourage me to open up. They never make me feel ashamed of my concerns or feelings when I do share them, and they never make me feel ashamed of my struggles. They also never make me feel like a burden. They are always making sure that I know I’m loved, and that I have a purpose and place in my family and in the world. Considering that I was blessed to be a part of the small one percent of fetuses so h Turner Syndrome to make it to term, I can’t help but to feel they are right. 

My mental health journey is still ongoing. I’m still finding myself, still growing. I’m still struggling with my self esteem. I don’t know why I was part of that small 1 percent, but I do know that I am willing to continue fighting through this crazy journey called “life” to find out.  After all, if there is one thing I know, it’s this: we are all here for a reason.

Note: My inspiration for this post was fellow blogger and disability advocate Amanda Gene, who is also very lucky to be alive today. Give her blog visit and read her story here.

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Imperfectly Perfect: Life with Turner Syndrome

Charli Dee6 Comments

“Do you wear bras?”, a high school classmate asked me one day.

“No…”, I replied with anticipation, waiting for her to get to the point. 

“You need to”, my classmate said, pointing at my “headlights”. 

That was during my last year in high school. Since I had just started showing signs of puberty that year, I did not see the need for a bra. Needless to say, however, after what my classmate told me, I never went out without a bra again. I was what one might call a “late bloomer”, or so I thought. During the summer before my first year in high school, I was diagnosed with Turner syndrome. Turner syndrome is a genetic disorder that affects girls. The condition is characterized by the partial or complete absence of one X chromosome. Many girls find out they have the condition around the same age I did, because one important marker of Turner syndrome is the absence of puberty. Girls with Turner syndrome generally can not go through puberty without hormone replacement treatment (which I started during my last year in high school). I always knew that I was different from my female peers. I finally found out why. 

When I hit my preteens I could not wait to transform into a beautiful swan. I watched all my female peers grow into beautiful young women, feeling more and more left behind with each passing year as I continued to show no signs of blooming. I couldn’t help thinking that I will always be an ugly duckling. I will never look like my female classmates, or the beautiful models I see on television or in magazines. My mother always tried to help me build a positive self image, but I just couldn’t let go of the feelings in my heart. 

Not only did I feel unattractive, I also felt incomplete. Women with Turner syndrome are usually infertile, and I was told by doctors that I was likely no exception to that rule. This revelation made me believe that I was not a “real” woman. I did not look like a “real” woman, and my body did not function like one either. It took some time for me to realize that there is so much more to a woman than her appearance. A woman is not defined by her breasts or hips, nor is an ample amount of them the mark of a beautiful woman. Beauty and women come in different forms. A woman who undergoes a mastectomy is not any less of a woman because of her lack of breasts. A woman who is infertile is not less of a woman because of her inability to bear children. I am not less of a woman because of some characteristics I lack due to Turner syndrome. Every woman is unique, but the one thing we have in common is that we all have our own special brand of beauty.

In a world where many people feel the need to get cosmetic surgery to “fix” what they see as imperfections, it is hard to be confidant and not feel the need to join the bandwagon. It takes strength to follow one’s own path instead of following the crowd, and over the years I have been slowly trying to build the strength to come into my own. I am learning to look past my “imperfections” so that whenever I look in the mirror I see a work of art