We asked Katie White what it was like living with Myhre Syndrome. Katie is the youngest of three children and while doctors suspected a genetic anomaly from when she was a baby, it wasn’t until she was 16 years old that she was finally diagnosed with Myhre.
Katie’s parents say that now that they know what the genetic disorder is, they hope further research will provide her with a better quality of life. Katie has always worked harder than her peers, and each day is a struggle, yet she always does her best to move forward. While she doesn't express life goals for herself, she is very articulate, extremely smart and can be quite chatty, especially when it comes to her life with Myhre. Katie loves to hear people laugh at her sarcastic humor. She says she doesn't understand it, because it's just the way she is.
Here's what Katie had to say about life with Myhre…
Katie with her family.
“My name is Katie White and I’m 21 years old. I have a Mom named Ines and a Dad named Chris. I have a brother named Sam and a Sister named Alex. She has two kids, Wyatt and Emma. I also have a cat named Martha. I’m obviously diagnosed with Myhre Syndrome.
I was initially diagnosed with periventricular leukomalacia, Asperger’s Syndrome and ADHD. When I was 16 we discovered I had Myhre Syndrome. My life with Myhre is pretty difficult, especially when it comes to sleeping and breathing. Or maybe it’s just because I also have Restless Leg Syndrome (yes, it’s a real thing.)
I also have a huge point of contention with my diminutive stature. You only need to look at my immediate family and you can get the gist of it. I really, really, REALLY HATE my height. My Dad and brother are 6’5, my Mom is 5’7 and my sister is 5’11. I am 4’11 ½. Emma and Wyatt don’t count on the grounds that they are both children. Therefore, they have plenty of time to grow. My Dad sometimes teases me about my height. Then again he teases everybody, so maybe I should suck it up?
I do enjoy reading books, when I feel like it of course. I love playing video games (you can thank my brother for that). What I like depends on what tickles my fancy that day or my mood. I also love playing cards with my family; my Dad’s side of the family specifically. I like the card game called Golf and In Between. It can get pretty heated (and loud. And comical). We are really competitive. That’s just the O’Connor blood in us (again, my Dad’s side of the family). So, uh, that’s it. That is all I have to say.”
There is nothing diminutive about Katie’s big and beautiful personality and we at MSF love her fun sense of humor!
Donate now to support Katie and her family in their hope for impactful research to better the lives of all those living with this rare disease.
If you or someone you love has a story about Myhre to share, drop us a note at info@myhresyndrome.org.