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My name is Brittani Ehrhorn. I’m a 32 year old woman who has Turner Syndrome (TS). TS is a chromosomal abnormality where a female is missing her last chromosome. It causes complications with many body systems, like growth, the heart, bones, and hormones. Only 2% of babies with the abnormality actually survive to birth. And many will need heart surgery soon after birth.
I am currently a nurse, and soon-to-be nurse practitioner. I consider myself an advocate and educator for Turner Syndrome. I live in Southern California close to my parents and three siblings where I get to enjoy being 5 minutes away from the Pacific Ocean…one of my favorite places to be. Turner Syndrome has always been apart of my life.I was fortunate enough to get a diagnosis at birth so I could get the help I needed right away. There is a whole health story I can talk about too, and how I still keep in touch with my pediatric doctors and nurses because of how impactful they have been. However, I will say that it has been so rewarding to work my way as a nurse and nurse practitioner. It is a true full circle moment as I’ve been able to provide support and care for other girls with Turner Syndrome now as I truly feel it is my calling and passion to help care for the health of those who also have this condition.
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Miggy: Hi Brittani and welcome! I’m so excited to have you today and to learn more about you and Turner syndrome. Let’s start at the beginning, what is Turner syndrome and what it looks like for you specifically? Do you know how your parents first learned about your diagnosis and how they first reacted? What do you remember about those early years? Overall how would you categorize your childhood? Looking back now, do you have a different view of how those early years have shaped you? (Sorry! This is a lot of questions at once!)
Brittani: TS is a chromosomal abnormality where an individual is missing there very last chromosome, and it only affects women. TS causes abnormalities in many body systems. For example, hormonal complications (such as insufficient growth hormone and production), heart complications, thyroid complications, low bone density with older age and diabetes. For me TS has impacted me as I had to take growth hormones for about eight years during my childhood, I take hormone replacement therapy, I have Hashimoto thyroiditis and part of my heart (the aorta) is enlarged and I will actually need open heart surgery in the next year to two.
My parents learned that I had Turner Syndrome (TS) directly after I was born. I’m sure they had a lot of emotions, but primarily they were advocates and fighters for me. They sought out the best care for me, even to the point of choosing a doctor that was a seven hour drive away from us because he was one of the top specialist regarding Turner Syndrome (TS). What I remember is that my parents made it fun for me to see my care team. It was always a treat to drive from Orange County to Stanford children’s hospital and stay in Northern California with just my parents while my siblings stayed at home (sorry sisters and brother). And my endocrinologist and his nursing staff literally felt like family. My doctor was the same age as my parents and even had a red head daughter, just like me who was just about my age. I feel like even though I had medical concerns, I had a pretty normal childhood. I felt so loved and cared for. I thrived in school, and loved gymnastics. Only my family knew that I had Turner syndrome so I was not treated differently by peers.
These years shaped me for many reasons. Firstly, my parents taught me how to advocate for myself. And as a woman with Turner syndrome it has literally saved my life; this is because I found out about a heart abnormality I have only by advocating for myself when my doctor otherwise was not going to do any testing. But I knew the concerns and wanted to follow medical guidelines provided by the Turner Syndrome Society of the US. Secondly, this made me realize how much I wanted to be in the health care field to educate and spread awareness about Turner syndrome as well as help provide care for TS patients. Lastly, they were an education in knowing my endless potential and that I am a person first and foremost.
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Miggy: Can you tell me what your family life was like growing up? Did you have great support from your family and siblings? Was there anything you wish they would have done differently?
Brittani: Growing up, family was my biggest support and biggest cheerleaders. I am so thankful that my parents never kept anything from me, and that having TS has just been apart of my reality (but not the entirety of who I am) since I was born. I feel that because it was something that my parents kept just within my family and didn’t have academic or physical needs (besides requiring growth hormones), I was able to be seen as a “normal” kid. With that said, my parents never knew any other families with TS nor did I meet anyone with TS until I was 17. I wish that would have been different. Because I now see the power of community once I became involved with the TS community. Having a community of other women with TS was something I sought on my own.
Miggy: I know I speak for a lot of special needs moms when I say I worry about my daughter being bullied for her differences. What was life like for you socially growing up? Were you ever bullied? If so, how did you handle it? Do you have any advice for special needs moms in dealing with these sort of situations?
Brittani: Interestingly enough, I was never bullied for having TS. I was actually made fun of for having red hair. I think that kids bully or make fun when something is unknown or different. Something that helps is making differences is celebrating diversity from a young age. Education kids at a young age about how each person is made differently, but that we are all people who breathe the same air and have similar hopes, dreams, worries and emotions.
Miggy: I’ve written a few posts about the problem with pity (here and here) when it comes to having a disabled daughter and how her biggest obstacles aren’t her physical limitations, but the limitations that come from society and from people who think of her as “a poor thing” or who “feel bad for her.” I’m curious if you agree that accessibility and physical limitations are smaller problems than pity and the way the public sometimes views the disabled community.
Brittani: I feel that the mentality of our society, and even medical professionals, are a limitation to individuals with any diagnosis. Specifically with TS, medical information in textbooks is extremely outdated and paints a very gloomy picture about what the life of someone with TS looks like. Firstly, I want to say that with any diagnosis there is a spectrum and no person should be looked at as a generality. Secondly, there was an eleven year research project done on women with Turner syndrome by Dr. Bondy and outcomes of the study showed women with TS have much higher education rates at the masters level and career success that the general population (Gould, Bakalov, Tankersley & Bondy,2013). When medical textbooks say many with Turner syndrome will have mental disabilities, it shows we can’t box people in or limit them with pity. I want to be treated like a regular human being and given the same opportunities to thrive.
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Miggy: As an adult can you tell us how your disability affects your day-to-day life? How has it changed over the years?
Brittani: Though having Turner syndrome does not necessarily categorize me as having a disability, my everyday life is impacted by it. I have to take heart medication everyday. I think about my health a lot and I eat a specific diet because I have Hashimoto’s thyroiditis. I am actively engaged in my health as well as the TS community. My health has also been more of a concern over the years because issues related to TS have come up, such a heart and bone issues. Turner syndrome is thought to be a pediatric condition, but there are actually maybe even more medical concerns as an adult. In addition, because of having a slightly shorter stature I have to consider certain things like reaching a top shelf or adjusting seats in cars.
Miggy: Lastly, is there anything else you want people to know about you, your life or disability in general? If you could give any advice to mothers with physically disabled children, what would it be?
Brittani: I would want people to know that there are so many things that make each person unique and wonderful. That diversity is so important. I also want people with any medical diagnosis to be kind to yourself and also be your own biggest advocate. Also, seek community. It is magically to be in a group of others like you as well where you can say “me too”.
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Brittani, thank you so much for your wonderful interview. I think people, myself included, don’t always understand the impact of outdated information and how those perceptions can be problematic. The medical community is so vital to, well humanity, as our health is at the center of all we do, its important that they have an accurate picture and understanding of different medical conditions and disabilities. It’s really frustrating to have limiting beliefs placed on an entire community through the misinformation of a few well-educated and therefore powerful people who continue to pass these beliefs and straight up wrong information down to others. However, in your case (and for many others) it sounds like your family and your parents more than made up that difference by instilling in you your value as a person no matter your diagnosis and medical issues. I love that you feel you have been called to the health care industry as you will no doubt help many individuals and families as they navigate their way through Turner syndrome as well as other diagnosis. And YES to community, finding your people and the strength that comes from that. Thanks again Brittani and best of luck to you as a new nurse practitioner!
As always if you or someone you know would like to participate in the Special Needs Spotlight please email me at thislittlemiggy at gmail dot com!
Have a great weekend!
XO,
Miggy
