How do I describe my own child? Obviously a little on the bias side, but here goes!
Shauna is a blessing that came into our lives 9 years ago! She is extremely inquisitive and I don’t say that with a grain of salt. When your child is 3 and starts asking Why? isn’t it supposed to be a phase they go through? Shauna is 9…I’ll let you know when she stops asking questions about EVERYTHING! Shauna is extremely empathetic. She is a best friend to anyone she is friends with. (Which would pretty much be everybody.) She wants everyone to be happy and loves to make people laugh. Shauna is a prankster…this coming from a mom who has turned on the kitchen sink and gotten sprayed in the face over a hundred times (you’d think I’d figure it out by now!) Krista, our 22 year old daughter, is excited when she doesn’t find a fake mouse in her bed….super balls in her sneakers…or a closet filled with rainbow loom rubber bands (glow in the dark of course!) One of my favorites is when Shauna put her 6 foot helium Spongebob balloon directly in front of Krista’s closed door to greet her when she got up in the morning…luckily Krista has a sense of humor!
Shauna is extremely loyal!! I don’t need to come up with different birthday party themes as she has been faithful to Spongebob since she was 4. Her favorite color is blue (she does NOT like pink, barbies or princesses!) Her dream is to become a meteorologist … first thing she does every morning is check the weather and she has a thing for Pete Bouchard on channel 7 (don’t tell). Back to her loyalty… she will not watch any other channel.
People say that children who are born with challenges (I will not say “different” as Shauna is quick to point out that “everybody is different”) are born with a special personality. Trust me…this is true! I can’t explain the attachments that people have with my little girl. If I could use a slide show, you would get it! If you go to a Celtics or Bruins game and we are there, you WILL see Shauna on the jumbotron. I can’t begin to say how many times her picture has been in the newspaper (picked out of a crowd to meet Doc Rivers when he returned to Boston, wearing her BEARD at the Red Sox game, meeting Jerry Remy and Wally at BJ’s….have you guessed yet that we are huge sports fans?) Last week the security guard at one of the restaurants we go to gave Shauna a Celtics stocking filled with wonderful gifts! He said he had been holding it for her since the holidays! What a treat! The facepainting lady at the games greets Shauna with a big hug every time we see her and will hide with Shauna to secretly paint her face when we show up after she is done for the night. This is the effect that Shauna’s personality has on others….while she wants to make others happy, they feel the same way about her. I just want to mention that none of these people are aware that Shauna has Rothmund-Thomson Syndrome.
I was originally thinking I would write our “story” but decided against it. Obviously it was a devastating hit to find that our baby was born with a rare genetic disease that probably has about 350 cases reported around the world. We went through the shock, the depression and all the other emotions that go along with it. Since RTS is so rare, there are many symptoms that probably have not been reported yet. Such as hearing loss, which Shauna was born with. She has severe loss in her left ear, moderate in her right and wears one hearing aid and an FM system at school. She got her first hearing aid when she was 3 months old. We were told this was not associated with RTS…I beg to differ!
Poikiloderma (the rash that starts on the cheeks and spreads to the limbs) started when she was 3 months old. This is what eventually led us to her diagnosis at 13 months of age.
Other symptoms that Shauna has include:
Small stature, underdeveloped thumbs and pinky fingers, some fused bones that were recently found when she had a bone age done. (At 9 years 2 months her skeletal bone age is of a 5 year 9 month old.)
Her osteopenia diagnosis came about two years ago (fragile bones) and we had to take some sports out of the equation. After having a fractured forearm for 3 years and a broken foot (undiagnosed until a month later…ouch!) we decided swimming and golf would be much better non-contact sports than soccer and softball.
Overheating is another big issue that most kids with RTS face. Shauna easily gets overheated…it has something to do with the sweat pores not working properly? This causes extreme headaches, dehydration and dizziness in Shauna’s case. When she strikes a fever, the normal 101/102 temp that most kids get are usually around 104. We have had it go up to 106 and it is a helpless, scary feeling! I have finally figured out that the usual bath soaks have the opposite effect and we use cold cloths to help keep the fevers under control. When in school in the warmer months we are trying cooling cloths, fans, and as usual, she will always have a water bottle on hand.
She is constantly coated with sunblock and a hat as skin cancer and osteosarcoma (bone cancer) are high risks associated with RTS.
Eating is a battle…when someone says their child is a “picky eater” they have not met Shauna. I won’t write the list of what she will eat but let’s just say she has had the same thermos of soup for lunch at school for the past 4 years. I’m sure this issue is due to all of the eating issues she had as a baby.
So these are the basics with much more that I’m sure I’m overlooking right now.
We now have a non-profit 501(c)3 Foundation that was started in 2009 by John and Helen Kimmel after the loss of their 25 year old daughter, Victoria, who had RTS. I was extremely honored when I was offered the role of Vice-Chairman of Rothmund-Thomson Syndrome Foundation! I have so many expectations of what we can do for the RTS community! You can learn more about RTS and the patients and families involved at our website www.rtsplace.org You can also partake in our current Super Bowl Square Fundraiser found on the front page. (I did mention our love of sports, right?) Shauna helps out with our fundraisers as she is an advocate for RTS as well. As I mentioned how inquisitive she is, she obviously knows all about her syndrome and is not afraid to share when someone asks her why she has that rash on her face, has to put sunblock on before recess or why she wears a hearing aid.
Awareness for RTS is huge!!! I can not tell you how much I look forward to the day that I can mention Rothmund-Thomson Syndrome to someone without the usual reply of “What is that? I’ve never heard of it!”
We were truly honored when Shauna was picked as part of the Genzymes group of “Running for Rare Diseases!” Beth Songer will run the Boston Marathon in honor of both Shauna and RTS this Spring and we will be there cheering her on! We have been in contact by phone and emails and will get to meet her and her family next week! We are already more than impressed by her! Beth is dedicated and excited about this endeavor she has taken on to help NORD (National Organization of Rare Diseases) and we are truly blessed to have been given this opportunity. Please check out her link and help her reach her goal! http://www.razoo.com/story/Boston-Marathon-2014-2
I’ll share more after our meeting and hopefully will have some great pictures of both her and Shauna!
I’m also hoping you get to meet and follow a couple of friends from our RTS community! Sharon Cotnam will be running in memory of Victoria Kimmel from VA and Kelsey Hoontis will be running for Eli Ramirez from Oklahoma! We were blessed when we met both of these families! The connections we have made are bonds that will last forever!
Help us spread awareness of Rothmund-Thomson Syndrome! We are so excited to attend our first Boston Marathon and cheer on our friends who are “Running for Rare Diseases!” Thank you for making a difference!