Shauna and her rare disease – Rothmund-Thomson Syndrome

I’d like to start with a heartfelt Thank You to the Running For Rare runners, patient partners, volunteers, NORD, UDN and everyone else who is involved in this community. Our family has made so many friends and bonds in these past three years….it is hard to put into words the gratitude, love and support that we feel. Shauna had her 3 hour infusion on Friday, which sometimes takes a lot out of her, but her only focus was to get up early Saturday morning so that she could participate in the practice run, giving out water and connecting with the running team. She was cold and tired, fell asleep in the car between stops and when I told her we should call it a day, she insisted we had to meet everyone at the brunch. This is how she feels about EVERY event that involves this wonderful group of people that we get to call our friends! We thank you all from the bottom of our hearts!

This year Shauna is paired with Emily Burke and I love seeing the bond that is already being made. They run together every week at the track and we have the added pleasure of playing with 3 year old Timothy! Shauna checks the weather and picks the best day to meet each week…then reminds me daily what day we are meeting Emmy! We look forward to cheering her on in Providence!!

I wanted to share a little about Shauna and her syndrome as there are so many new people involved since we have started this journey with RFRD! I showed it to Shauna this morning for her approval and she told me I did a good job. “You got the facts right but you use the word “she” too much … you should never start so many sentences with the same word. It’s okay because it’s been a long time since you have been in school.” So please forgive me for my grammar issues…

Many of you have met Shauna as we have been involved with the Running for Rare Disease Team now for 3 years. As you have probably figured out, she’s a very happy, energetic and loving 11 year old, who is like any other girl her age. She wants to have fun, make people laugh, write her daily weather blogs and have weekly “step” challenges with all of her friends. She wants to play sports, swim, go sledding and ride her bike. She wants to grow just one more inch so that she will be tall enough to go on all of the biggest roller coasters. She is a thrill seeker … she has no fear!

You also know that she has a rare disease. Shauna has Rothmund-Thomson Syndrome which has approximately 500 cases reported worldwide. She was born hearing impaired and wears hearing aids…she uses an FM system at school. She had trouble eating as a baby/child. She has underdeveloped thumbs on both hands and bones that are not formed correctly in her forearms. She has keratosis on her feet and hands. She has bone pains if she is on her feet too long. She overheats easily because she does not sweat properly. She gets very high fevers when she is sick. She is extra careful in the sun as she has a high risk for skin cancer. In the past few years she has lost most of her eyelashes and eyebrows. In the past 4 years she has had 3 bones broken in her feet, fractured tibia, fractured wrist, numerous broken fingers and a fractured forearm. She has osteoporosis which explains the breaks and the long healing process. She has a rash (poikiloderma) on her face, arms and legs. She will most likely not grow to be 5 feet tall. She is at high risk for juvenile cataracts. She is at a very high risk for osteosarcoma. She may or may not lose her hair in her teenage years.

I could ballpark and say she has doctor visits about 40 times a year. Of course that varies if she has broken bones or other issues going on. She can no longer play any contact sports. She has 3 hour infusions every 6 weeks in hopes to strengthen her bones. She has full body MRI’s at Dana Farber to screen for osteosarcoma which is how a few of her fractures have been found. She has had countless bone scans, DEXA scans and endoscopies. She has blood drawn constantly. She does not complain about her appointments, her needle sticks, her numerous x-rays, scans, casts, wheelchairs, etc.

She doesn’t like to miss school because it’s hard to catch up. She has been on the honor roll every term this year. She couldn’t participate much in gym but got Student of the Month because she puts in her all and does everything that she possibly can. She plays in the snow every opportunity she can because she knows it’s something she can’t always do. It’s the same with riding her bike.

But if you have met Shauna….she is a regular 11 year old girl. But she has something special. She has changed my life and the people around her. Her older sister wrote her College essay about her hero…her 4 year old sister Shauna. She has made me a better person and has taught me to make the most of every day and to be thankful for all of the blessings in my life. She brings out the best in people. She inspires everyone around her. She’s not afraid to speak because she wants to help others…she does not know the effect she has on almost everyone around her. She does not know how very special she is. I have learned more from her in the past 11 years than I have ever thought possible. I don’t have the right to say I wouldn’t change a thing because, in my heart, I hate that she has this rare disease. But I have been blessed with this amazing person in my life and if you have met Shauna….I truly believe you have been blessed as well.

To learn more about Rothmund-Thomson Syndrome please visit our website www.rtsplace.org