Meet Annie!
Annie Lux was born May 18, 2019. She was the missing puzzle piece that our family of 5 needed. After a high risk pregnancy with no official answers, Annie was born & spent the first 3 months of her life in NICU and would face many hardships & multiple procedures.
Annie was diagnosed with Noonan Syndrome, SOS1, at 14 weeks old.
After the initial shock began to wear off & our new life starting navigating itself with the help of multiple specialty physicians & therapists, it became clear that spreading awareness for this rare syndrome through the love of our daughter would be our new reality! We are so grateful for this opportunity, even on the hardest days.
What is Noonan Syndrome?
Noonan Syndrome is a multi-system genetic condition that can affect multiple parts of the body. A single change in one of the several autosomal dominate genes causing similar symptoms are collectively known as RASopathies. These conditions cause changes in the same cell signaling pathway and are variably expressed with an estimated prevalence of 1 in 1,000 to 2,500 births, making Noonan Syndrome the most common rare Syndrome you’ve never heard of.
What are the effects of Noonan Syndrome?
Noonans can manifest from extremely mild to severe. Some of the typical symptoms are as follows:
HEART ABNORMALITIES
CHARACTERISTIC FACIAL FEATURES
MUSCULOSKELETAL SYSTEM ABNORMALITIES
INTELLECTUAL DIFFICULTIES
MALIGNANCY
EYE CONDITIONS
BLEEDING
LYMPHATIC CONDITIONS
KIDNEY, LIVER & SPLEEN CONDITIONS
GASTROINTESTINAL SYSTEM
SKIN CONDITIONS
HEARING LOSS
Tees That Speak!
Tees That Speak! is our collection of Wonderfully Rare™ Tees supporting Noonan Syndrome Awareness. Proceeds received from sales will go back to support the Noonan Syndrome Foundation.
I was fortunate enough to work with the extremely talented artist and owner of Grace & Cotton, a local-to-SC T-Shirt designer who uses her hand drawn images for her T-Shirts. When I reached out about working with me to bring an image to life, Katie didn't hesitate. She dove all in and supported my cause with no strings attached.
I kindly ask that all purchases by made directly through the Grace & Cotton Website while I continue to work out the kinks here on Wonderfully Rare's online store.
Orders will be open the entire month of February for Noonan Syndrome Awareness Month and will be created and fulfilled during the month of March. You can expect to receive your items mid-March.
I am beyond excited for this project and the impact it will make for those living with Noonan Syndrome & Rare Disease in the years to come!
Here is to the beginning of something GREAT!
"Welcome to Holland"
By Emily Perl Kingsley
I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this…
When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."
"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."
But there's been a change in the flight plan. They've landed in Holland and there you must stay.
The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."
And the pain of that will never, ever, ever, ever go away...because the loss of that dream is a very, very significant loss.
But...if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things... about Holland.
c. 1987 by Emily Perl Kingsley. All rights reserved.
