September
2022

Fall Issue
No. 1

www.rtsplace.org
RTS
Foundationon
track to fund record
amount to support RTS
related research in 2022
… more funding needed
The RTS board has been very active in its
fundraising efforts in the first half of this year.
Especially our vice-chair Laurie Sperou andboard member Staci Hanson, who havedone the lion’s share of this challenging
work. The overall fundraising efforts
resulted in the RTS Foundation being able
to allocate a record amount of funds forresearch. In the first half of this year, theRTS Foundation was able to fund $50,000to support the RTS and related research ofDr. Lisa Wang, Texas Children’s Hospital.
Additional funding is planned for the fourth
quarter of this year.
It is imperative that the RTS foundation
continue to provide funding for research,
given that access to Governmental andinstitutional funding has diminished greatly,or in some cases, dried up completely.
The RTS board believes that research is
crucial to our understanding of themolecular basis of RTS and that research,
ultimately, holds the potential key for future
treatments and, one day, a possible cure forRTS.
------------------------------------------------------------------“Research, ultimately, holds
the potential key for future
treatments and, one day, apossible cure for RTS.”- RTS Board Members

We are grateful to our RTS families andfriends for their ongoing support of ourvarious fundraising endeavors throughout
the year. Without you, we would not havebeen able to reach this research funding
milestone. Thank you!

RTS Registry – Participate in research to findeffective solutions to manage RTS symptoms
Are you a participant in the Rothmund-Thomson
Syndrome (RTS) Registry? If you answered no, weare looking for YOU!
What is the RTS research Registry?
The RTS Registry at Texas Children’s Hospital/Baylor College of Medicine in
Houston, Texas is the largest group of RTS patients and family members worldwide(yes…. WORLDWIDE!). This registry, developed and overseen by Dr. Lisa L.
Wang, focuses on the molecular basis, clinical features, and natural history ofRTS. So far there are approximately 150 patients and over 275 family members
participating from all around the world, including Europe, Asia, South America, andNorth America.
Who is eligible to participate?
••

Patients with a confirmed or clinical diagnosis of RTS
Parents and full siblings of a person with RTS

What does participation involve? It’s EASY!
• Completing some paperwork at the time of initial enrollment. The initial
paperwork provides your basic medical information and takes less than anhour to complete.
• Providing medical and health updates once a year (which is typically one sheet,takes less than 10 minutes to complete and can be returned via email)• Providing biologic samples (for example, swabs from inside the cheek or a tubeof blood) one time during enrollment – these are optional and can be done
any time.
Why should I sign up?
• To learn more about RTS and to help others with RTS! There is so muchabout RTS that is still unknown. Participating in the Registry can help
researchers answer questions about the natural history of the disorder and findbetter ways to effectively manage symptoms related to RTS.
• To connect and communicate! Being in the Registry is a great way to stay intouch with other RTS patients and families worldwide.
• To help your doctors take care of you! Participation in the Registry allows yourlocal treating physician to connect directly with Dr. Wang to discuss RTS
related-questions and symptom management.
How can I sign up?
Contact Dr. Wang’s research staff via telephone or email
to request an enrollment packet:
Ta-Tara Rideau, Clinical Research Coordinator
Email: tlrideau@texaschildrens.org
Phone: 1-832-824-4224

Breaking News!
Shauna, the face of RTS, turns 18!
If you’ve heard of RTS, most likely you
have seen or heard of Shauna Sperou.
With her 18th birthday coming up we
wanted to give her a little tribute and sharea little about her!
Some fun facts you may not know!
1. Has had soup for breakfast orlunch (Progresso Italian Wedding)pretty much every day since she
was 4.
2. Fractured her bones over 50 times
before she was 16.
3. Had a weather blog on Facebook
with over 1000 followers for manyyears.
4. Loves roller coasters…the bigger
the better. Plans to jump off theStratosphere in Las Vegas andtalks about sky diving.
5. Loves MATH.
6. In 8th grade gave a “complimentnote” to her Math teacher everyday.

New children’s bookinspired by father’s
train ride experienceswith son in Colorado What a story!
Hello RTS community! My name is DavidRamirez. You may remember my wife
Melissa and son Eli from our Washington,
DC, visit about 10 years ago. We haven’t
seen you in person since then, but we keep
up on Facebook and love you all.
I wrote a children’s book called “Daisy andJacob Ride the Train” (ages 4-8) about two
siblings who take a steam train into theColorado mountains and see the sights.
The book’s illustrator is my daughter
Sophia, a student at Wichita State
University, studying digital arts. The
character Jacob is based on Eli, who is now
15 and attending high school as asophomore. Eli and I spent two weeks
riding 14 trains around Colorado in 2017,
and the book is a reminder of thatwonderful time.
Sometimes we parents feel conflicted about
what to do when people stare at our kids inpublic, unless you’re my wife who knows
exactly what to say to them. Eli is especiallybright and personable, and it would be
simple for him to educate others on hiscondition and why it’s impolite to stare. Of

7. Constantly mistaken to be muchyounger and is ALWAYS being
given the Kids Menu at restaurants.
8. Loves Boston sports and has beenon the Jumbotron more times thanwe can count...
9. Will ALWAYS have your back!
10. Brings out the best in everyone
around her!

We surveyed 100 people and the top 6
answers to the question. Name two words
that come to mind when you think ofShauna:
1.
2.
3.
4.
5.
6.

Inspirational
Smart
Funny
StrongThoughtfulCompassionate

course, staring happens so regularly, therearen’t enough hours in the day to talk to allof them. I often think, “I wish they’d go reada book about special needs kids and learn
they aren’t so different.” So, I wrote one! If
the book does well, I plan to write futurevolumes about Daisy meeting children withother physical, cognitive, and emotional
disabilities.
We may even see Jacob again. “Daisyand Jacob Ride the Train” is now available
on Amazon, Barnes & Noble, iTunes andGoogle Play.
The notes in the back tell a little about Eliand include a link to the RTS Place website
www.rtsplace.org

I’m excited to share it with you!

Eli and Sophia Ramirez

Live RTS Sharing and Caring Conference setfor Maine, 2023

After a three-year absence of live RTS conferences, we are back on track for 2023.
With the gracious help from board member Staci Hanson, a Maine resident, we wereable to secure a venue that meets our needs. The live Sharing and Caring conference
will be held from 4/28-4/30/2023. We will send out the conference itinerary as we getcloser to the conference date. The RTS board looks forward to seeing and connectingwith RTS families, which is always the best part of the conference experience.

“Seeing and connectingwith RTS families is always
the best part of theconference experience.”- RTS Board Members

The “I love Lucy RTS Fun Run”

Get on your mark, get set… Go!!!
The “I Love Lucy RTS Fun Run” is a virtual 5k, half marathon or kids sprint taking place on September 18 , 2022. This event is agreat way to get your family and friends together to support the RTS community, the endeavors of the foundation and to get your body
moving! Lucy Hanson is a free spirited four-year-old that loves her community, Disney princess, animals, having books read to her andplaying outside. She is the inspiration behind the event. To date we have raised $6,121 and have 94 people signed up to participate. Thekids will all be putting on their free RTS superhero capes on and sprinting their hearts out. Please click the link below to sign up and/or
considering donating today.
th

https://runsignup.com/Race/ME/Westbrook/ILoveLucyRTSFunRun
Volunteers needed - RTS needs your special talents!
Are you a good writer, social media wiz, event organizer or want to be considered for a position as a RTS board member? Reach out tous and we’ll be happy to explore with you where your skills and talents might be a good fit with the needs of the RTS Foundation.
Remember, everyone on the board or involved with RTS is a volunteer. While we all comefrom different backgrounds and life experiences, we share a common goal when it comes toRTS. The work can be challenging, at times, but it’s also rewarding and fun working together
with a group of people who share a common goal. And if that’s enough to convince you thatvolunteering is a terrific way to spend some of your free time, then consider the well
documented psychological and physical benefit of volunteering. According to
HealthGuide.org, “volunteering provides many benefits to both mental and physical heath…
helps to counteract the effects of stress and anxiety.” How many other outlets can make thatclaim?

“Volunteering provides many benefits to both mental health andphysical health… helps to counteract the effects of stress and anxiety.” HelpGuild.org
Please contact us at: support@rtsplace.org

Parenting a child with RTS: From birth to young adulthood
Sheila Townsend – RTS Board Member

Even though this all happened over 18 years, when he became anadult, it felt sudden and a little scary!! The control and influence weonce had to help keep him safe and protected was no longer in ourhands. He was an adult who could make his own decisions andchoices, even if those choices seemed counter to what we believed
was best for his health!! I am sure most parents have this experiencewhere their son or daughter becomes an adult and independent. It
is a moment where, as a parent, you are both proud you have raised
your child to the point of being a well- adjusted adult ready to face
the world and terrified that you are sending your baby out into theworld on their own! I think this experience is amplified for a parent
with a child with RTS. Not only do you have all the same emotions
most parents have but also have the added worries of all concernsthat come with RTS and little to no influence to ensure your childstays protected! The best you can hope for is that you have educatedyour child to now take the lead in their own care, and that they will
stay the course on all the precautions you had in place for the first18 years.
To repeat the question I started with, what is it like to have an adultchild with RTS? It is like every other parent who has an adult child.
You hope they are happy and well adjusted, that they find a career
they love, have great friends, and find a soul mate to share their life
with and of course, give us grandbabies! In the end, like all parents,you must let go and allow them to find their own way in the world
and with RTS.
What’s it like to be a parent of an adult with Rothmund-ThomsonSyndrome (RTS)? Let me give you a little background on how wegot to this point in our lives. Michael is soon to be 26 and wasdiagnosed with RTS in 1997 when he was 6 months old. This iswhen we learned that people with RTS have a higher likelihood ofdeveloping skin cancer, juvenile cataracts, and of course, RTS
related alopecia and poikiloderma. For the next several years wehad regular appointments with ophthalmology, genetics, anddermatology and became experts in sunscreen, sunglasses, andprotective skin coverings (hats and swimwear). Michael was 7 years
old when we heard about Dr. Wang’s study searching for a possible
link between RTS and an increased risk of osteosarcoma (bonecancer). We went to Houston, met Dr. Wang, and became part ofher study that led to the discovery of the RECQL4 mutation. We
now know that he does not have the RECQL4 mutation and isconsidered to have “Type 1” RTS. Throughout the rest of hischildhood, the list of specialists Michael saw expanded to include
nephrology, cardiology, neurology, and infectious disease after
having some mysterious medical issues. These involved years ofappointments and several surgeries, including cataracts as ateenager. As he got older, we were able toslowly transition away from most of the specialists.

In our personal experience, Michael is well on his way.

We are honoring Shauna's birthday by sharing her story, year by year! Eachday you can read a new update, told by her mom, on Shauna's 18th
Birthday Fundraiser for RTS Foundation on Facebook. We started ourgoal at $5000 but it's been doing so well, we're hoping to double that. If you
want to help us celebrate Shauna's 18th birthday you can go to theFacebook page (2) Facebook or if you don't have Facebook you can donate
via the website Donate (paypal.com) Just remember to put that it's for
Shauna's Birthday Fundraiser. This will run until September 8th! The day
after she becomes an adult!

The Rothmund-Thomson Syndrome Foundation is a 501(c)(3) nonprofit organizationwww.rtsplace.org
email: support@rtsplace.org