By Ernestina (Ernie), Silver-Russell syndrome, United States, October 27, 2019

I had to show my California ID, when I was already over 18 to a lady that works at Walmart so I could get a sample of a pizza that was being sold. Yup, just for a slice of pizza, I mean I laughed it off but it was humiliating especially considering that people that were just passing by just pointed and laughed, I am pretty sure it was hilarious to them.  I brushed that off too, since I was used to that. I've been pointed at and laughed at my whole life, where I live it's not everyday that you see a woman of almost 20 standing on tiptoes to see over a counter or standing over a stack of chairs to reach some doughnuts.

My name is Ernestina, (Ernie to my peers), I was born with Tumbelina Syndrome most commonly known as Russell Silver Syndrome which is one of only five forms of primordial dwarfism. This syndrome only affects 1 in 100,000 thousand people around the world. It affects my height, weight and mental health along with other health issues. I might look normal to others, some people just tell me, "there's nothing wrong with you, you are just small" but they don't really see what's going on inside, most never get to. Each patient with Russell Silver Syndrome displays most of the same similar symptoms: the small stature, the large head,the curving of the fingers and the blue hints on the eyes instead of the normal white which most people never see unless they look really deep into your eyes. But some patients have worse symptoms, like cerebrovascular syndrome which affects my memory and other parts of my brain. Funnily enough, people tell me that they wish they could be as thin as me  but what I wish I could tell them is that I want to be as heavy or as average weight as they are. I am 69 lbs, no matter how much I eat I will never gain weight, which puts me at high risk for Cardiovascular disease and eventually early death due to a heart attack. When someone is as underweight as me, most doctors don't really check for the cholesterol since who would expect someone like me to have high cholesterol? Well my cholesterol is at 224. So how do I lower it ? By eating less sweets and red meats. What is the problem here? I have hypoglycemia, I have to be eating snacks packed with sugar when my glucose drops to dangerous levels like 65. Which is pretty much all the time. Another problem is that I suffer from fybromialgia, I am constantly in pain due to my nerves being damaged. There are so many factors concerning my health that make my case special and unique, I could go on and on.The biggest problem being that I can't take growth hormones and gain weight because the more weight I gain, the worse it could become for my spine and my overall health.

So how do I cope with this illness that makes shopping oh so fun and makes Dora the Explorer pants and size 12 shoes for kids seem so comfy? It's a day by day process, I know my life is shortened, I've known for years even though I did not find out I was actually sick until middle school. So I try not to think about it too much, my mental health has declined, I suffer from severe depression and anxiety and have impulse problems along with sexual problems due to the hormone imbalance caused by the syndrome, but I still try to look on the bright side which is that I don't have to worry about my head hitting a tree branch. I know people will keep ridiculing me for the rest of my life and physically & verbally abusing me. I just need to keep reminding myself that if bullying a tumbelina makes them feel better about themselves and their sad life as a tall individual then they should be the ones going to the doctor.

How do I envision my future? I want to be a veterinarian and a band director, my life is short so why not accomplish both of my dreams at the same time? I am hoping for kids in the future, I don't know if it's even a possibility specially since the dating department is limited for girls whose 3rd grade sweaters still fit. Despite the limits that have been put up for me due to my syndromes and my doctors, I will try to keep pushing through those limits.


Share this

Share your photos, videos and your experiences!

Be part of Rare Disease Day by sharing your story with others and sending a message of solidarity! You can write about your story and also submit photos or a video testimonial.

Share your story

(To find the english name and more information about your disease, click here). Start typing the English name of your disease. Please choose from the suggestions that appear. If your disease is undiagnosed please write ‘undiagnosed’, or if you would like to list multiple diseases, please type in a list separated by commas.