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 healthcare 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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My name is Victoria Judson. I am 19 years old. I was born to Teresa and Russ Judson. We live in Minnesota. The diagnosis that affects me the most is Congenital Insensitivity to Pain with Anhidrosis (CIPA) also known as Hereditary Sensory and Autonomic Neuropathy type IV(HSAN IV/4). I was officially diagnosed on April 4, 2019. We are still coming to grips with the diagnosis even though I was born with it and have had it my whole life. CIPA is a nerve disorder and an extremely rare inherited genetic disorder that makes me unable to feel pain and temperature, unable to sweat, have intellectual disability, and have emotional and behavior challenges. My medical needs have been worsening these last 5 years. Nobody knows why. My parents and I will be going to Mayo Clinic in June for whole exome sequencing so they can try to identify a gene. I have a mutation on the SPG11 gene and it causes autism and intellectual disability–I have both.

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Miggy: Hi Victoria and welcome! I’m so excited to have you here today as I love featuring adults with disabilities to get their first hand perspective. Let’s start at the beginning, do you know how your parents first learned about your diagnosis (diagnoses) and how they first reacted? What do you remember about those early years? Overall how would you categorize your childhood (or do you)? Looking back now, do you have a different view of how those early years have shaped you?

Victoria: My parents always knew something was off. I never cried when I was a baby. They just thought I was a quiet baby. During the early years, I had a lot of meltdowns and I had countless injuries without feeling any pain. My childhood was challenging. My parents didn’t know there was an actual condition that prevents you from feeling pain or being able to sweat. They had to make sure I didn’t get injured. I had to stay inside each summer since I can’t sweat and I overheat easily. Those early years are hard to look back on but I am my own self advocate now and I have my parents’ help.

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?

Victoria:My family life was really supportive. My siblings were somewhat nice to me but they didn’t understand me. I wish they’d paid more attention when I got hurt. They thought I was exaggerating when I told them I couldn’t feel pain and they thought the reason why I couldn’t walk far on hikes was from elevation sickness when it was really because I overheat since I can’t sweat. I am not passing judgement on my parents or family, I am just telling it as how it
 
[readmore title= “Click through to read more about Victoria and her unique challenges.”]

Hey guys, Miggy here! I have another fantastic Spotlight Then + Now update for you today. I first shared Kera and her 3 children back in 2013–it’s been 5 years! I’m excited to have Kera back today sharing how her kids are doing now, as well as how her personal journey has evolved in the past 5 years. (Hint: a lot.) You can read the original spotlight here. Enjoy!
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Miggy: Welcome back Kera! First, let’s start with a brief overview of your children Julianna, Blake and Nathan, your 3 beautiful redheads! What are their diagnosis and how does these diagnosis and/or conditions specifically manifest in your kids?

Kera: Julianna is 15 now, and has been diagnosed with autism and intellectual disability. She is going to high school in the fall! She tries her best to be social and loves to say hi to her friends and give them a little side hug. She is aware that she has autism now, which is actually tough for her–she doesn’t want to be different or have the struggles that she does. We are working to help her through this and to give her as many opportunities as she can to reach her potential.

Blake is 12 now and was born with a rare blood disorder called mastocytosis, but honestly, it’s not even an issue at this point. He did get his tonsils and adenoids removed last fall–his first surgery! Otherwise, he is a smart, social kid and loves chess, Rubik’s cubes, making stop motion videos, basketball and baseball, and playing Minecraft.

Nathan is 6 now and almost done with kindergarten. In the last post, he had just had his palate repair surgery just a few months prior. Since then, he has continued to receive medical care as he grows, and is doing really great! Speech therapy has been a huge help for him to improve his articulation. He still has his tiny “fistula” or hole in his palate that never fully healed, but it doesn’t cause any problems from him. He’s had a few set of PE tubes to allow for drainage in his ears, and as a result, has perforated ear drums in both ears and some mild hearing loss. After some careful advocating on my part, I was able to get him his own FM system in the classroom and he is hearing the teacher better and responding so well!

Miggy: What has changed the most for you personally about your identity as a special needs parent? For example, have your general views on disability evolved, does your care-taking look different than it used to, and/or do you feel more or less personally balanced than you used to?

Kera: I have come such a long way in 5 1/2 years. I really feel like I have accepted this role as a mom to children with unique needs. I have realized how important it is to identify myself as a caregiver, because what I do is so much more than typical parents do for their children, and there is a good chance I will be caring for my daughter long-term (though we still hope she will be able to become independent someday). After writing my first spotlight post 5 1/2 years ago and receiving such wonderful feedback from your readers, I actually revamped my blog–before, I was just talking about the day-to-day, regular things, but I decided I shouldn’t hide what I face on a regular basis. So I started writing more openly about my experiences, and this led to creating a facebook page, and even being published on several platforms. I began to see that my voice matters, and that by sharing my experiences as a special needs parent, I could not only allow myself to heal, but I could help other parents connect and heal. So I have you to thank for starting me on my journey!
 
[readmore title= “Click through to read more about how Kera’s three amazing kids are doing now.”]