Name: Aurora 
Age: 2
Which SADS condition do you have? Timothy Syndrome
When were you diagnosed? 10 months for LQTS & 1 year for Timothy Syndrome 
How are you treated? Beta blocker (propranolol), ICD (implanted February 19, 2019)

How/when were you diagnosed?
The anesthesiologist noticed long qt during open hip reduction to correct
Developmental Dysplasia of the Hips. 

What has been the biggest challenge you’ve faced in living with your diagnosis?
Her tachycardia on February 17, 2019

What is one positive thing that has come out of your diagnosis?
During her cardiac event we were able to use an AED that the Gentile family gave to us. The device administered a shock and saved her life and she’s still with us.

What encouragement or advice would you give someone who has just been diagnosed with your condition?
Reach out to the community of individuals with the same diagnosis and ask them anything. It can save your child’s life and improve your quality of life by learning from others.

What does your day-to-day life look like?
Aurora is still learning to walk because of being born with dislocated hips and hyper mobility so she has physical therapy three times a week but besides that pretty normal.

What are your favorite hobbies and activities?
We like to go swimming and hang out with friends.

If you would like to donate to TSA in honor of Aurora, you may do so here.

Want to be featured in the SADS Spotlight? Share your story by answering a few short questions. If you have a longer story to tell, or if you’d like to write about a specific topic, check out our guidelines for writers. 

February 28th is Rare Disease Day.
The main objective is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

While all SADS conditions are considered rare diseases, we want to focus on Timothy Syndrome and the rare disease advocacy efforts of one of our SADS families.      

SADS staff had the opportunity to interview Courtney Waller, whose daughter lives with  Timothy Syndrome, about her experience with rare disease advocacy.

Can you tell us about Timothy Syndrome and how it has affected your family?   

Timothy Syndrome completely turned our family upside down in the beginning.  We knew before her arrival that Theodora had Long QT Syndrome, thanks to a research study at UW Madison.  We would not know it was one of the rarest forms until she was born with the hallmark syndactyly. It was very hard and super upsetting for all of us to know that the prognosis was much worse than for other types of Long QT Syndrome, so there was definitely a grieving process we went through as a family.  
But, as she has grown, we have all adjusted.  The biggest effect I have seen is how we have all, in an effort to keep Theodora as safe and healthy as possible, even the younger of her older siblings make better lifestyle choices, and help her to do the same.
And we have definitely become closer as a family.

You started as an advocate for your daughter then became an advocate for Timothy Syndrome and rare diseases.  Can you tell us how that happened?

I have always been an activist, since I was a young kid.  As I got older and started a family it sort of fell by the wayside.  When Theodora was born, there was not a lot of information on Timothy Syndrome, no cure and no real ongoing research.   I guess, I felt I had to do something to help her…so I returned to my roots. I remember doing a simple Google search for rare disease support groups and found RDLA, an organization that works on legislation specific to the rare disease community.  It just happened they were having a conference in DC the following month. I bought a plane ticket and began my journey as a rare disease advocate.

I know that a painting of Theodora was featured in an art exhibit. Can you tell us a little about that and how your family got involved?  

I actually met Patricia Weltin at the RDLA conference that first year.  She is the president of the nonprofit and mastermind behind Beyond the Diagnosis.  A few weeks after DC, she called and asked if I wanted Theodora involved. The beauty of this exhibit is not just the children themselves, all of whom have a rare disease.  It isn’t even the idea of painting portraits of them, or that Patricia has the goal of one day having portraits of all 7000 rare diseases.  It is that this project has brought patients, artists, researchers and doctors from all over the world together in a super unique and visually amazing way.  If you had told me when Theodora was first born that I would see her portrait and hear the words and a description of Timothy Syndrome on CBS Sunday Morning, I never would have believed it.  This exhibit made that happen. So far, Theodora’s portrait by artist Jennifer Cahoon has been to the NIH, FDA, Feinstein School of Medicine, University of Alabama and Mayo Clinic in conjunction with the Smithsonian Human Genome exhibit, just to name a few.

What other rare disease advocacy efforts have you been involved with?

The first few years I worked at the federal level.  However, for the past two years I have worked almost exclusively at the state level.  
This includes trying to build a rare disease caucus at the state level which can help guide legislation that is good for our community.
On a more social side, we are building a community and planning events in 2019 and beyond for all of us here in Wisconsin who are affected by rare diseases to get together.

Do you have any advice for patients or caregivers who want to get more involved in rare disease advocacy?    

The absolute best thing you can do, and where I have seen a lot of advocates get discouraged, is to know your legislature beforehand.  Most advocates are told that their story is THE most important thing they have and the way to get results. And it IS important. It is the reason we do what we do, and it can change hearts and minds.  But, you can tailor your story to the thing your legislator cares the most about, (what did they run on? Are they a finance guy? Business leader? Former social worker?) and get better results because you are speaking directly to what is important to them.  Never get rid of your story….just tailor your speech in a way that directly impacts the person you want to help you make the change you seek.

If you would like to donate to TSA or the SADS Foundation in Theodora’s honor, you can do so here.   

Seeing the doctor is always stressful. It’s even more so when you’re from out of state (like me) or even out of country. It can be very overwhelming. I admin a group and we get a lot of questions from people asking what it’s like, where to stay, where to eat, what you can do in Rochester, etc. so I decided to make my own mini guide to Mayo. I’ve broken things up into categories for some semblance of organization but I highly recommend reading all of it.

Atmosphere

Full disclosure: I love the Mayo Clinic. It is actually a delight going there. They have truly mastered Patient centered care and it shows. The details (like actual art and sculptures, not just “hospital art” ) really help to create a calm and dare I say fun environment. Most hospitals are full of a stressful agitated energy that Mayo just doesn’t have. Sure there’s hustle and bustle and occasionally small chaos but it’s a calm chaos. As my mom says “It’s a place of healing, not just a hospital.” There truly is no hospital I’ve ever been to that is like it.

Places to stay

First thing you should know Mayo has subway tunnels under the streets. Some hotels are connected by subway tunnels to the clinic which is really convenient, unfortunately, those tend to be more expensive as well. Many hotels also offer shuttles to and from the clinic back to the hotel which is also very convenient. I stayed at the Best Western a couple years ago and it was nice and had a shuttle. If you have your own car I highly recommend staying at an Airbnb. That’s what we did this last time I went and it was great. Also I highly recommend buying a parking pass. They are way cheaper than not buying one and they never expire as long as you have the pass so you can use it year after year until you run out of days.

Places to eat

• Nupa – Mediterranean and Greek food like gyros, dolmades, greek salad, etc. I just ate here for the first time last week while I was there and it was wonderful! My gyro was overflowing, the service was great and they didn’t charge me for extra tzatziki sauce. All around win-win for me!
• Victoria’s – I can’t say enough good things about Victoria’s. I’m Italian so I don’t eat out Italian food – except here because it’s that good. I have had the spaghetti bolognese and the chicken rosa verde which I highly recommend! And their calamari is so good!
• Newt’s – Best burgers in Rochester! Also have wonderful nachos. (They layer the toppings so you never get any sad empty chips). It is a bar so maybe not perfect for small children but also not bad for kids. All around good bar food and they have Minnesota beers that you can try if that’s your thing.
• Chester’s – Amazing food and possibly the best service I have ever had (Seriously ask for Devin she’s the best). I have a bell pepper allergy and she was very helpful and understanding and knew the ingredients of everything on the menu. I got a quinoa healthy bowl this time but they also have amazing steak.
• Pannakoeken –  Breakfast with a Dutch flair! They serve all day but we went there for breakfast. I am super picky about my eggs and they got them right so A+ for eggs. If you go you have to get a pannakoeken (also known as a dutch baby) – a stuffed, oven-baked pancake. We got one with strawberries that came with brown sugar and sour cream to mix and make a fruit dip. It was honestly life-changing. 12/10 recommend getting a pannakoeken. Also their muffins looked wonderful as well but we were too full to get any.
• Caribou Coffee – Amazing coffee and really nice staff. It is a chain but it’s not nationwide. There is also a Starbucks and Dunkin Donuts nearby if those are your thing. Also highly recommend either bringing a reusable cup or getting a fun one from the Mayo gift shop because they’ll charge you less to do a refill and because it’s good to be environmentally friendly.

Things to do (Rochester)

Rochester is pretty small but there are a surprising amount of things to do. Some of these are in Mayo so you can do them in between appointments if you have time/ need something to do

• There’s a little like “town square” out the back of the Gonda building. I believe it’s called Peace Plaza but I am not positive. Anyway, there are a bunch of things that happen out there like concerts, dance lessons, etc. There are little signs out there with a website you can go to to see all the events.
• Visit the hospital gift shop. I know it sounds kinda lame but they have some fun stuff like the rubber duck soap. It’s a bar of soap around a rubber duck and they are hilarious and really great for kids.
• Go look at the artwork! Mayo is part clinic, part art museum. There is art EVERYWHERE. They have big sculptures by Dale Chihuly that I could stare at for days. Seriously it’s everywhere so take a couple minutes to enjoy the art as you walk by.
• Nature! If it’s nice out you can check the many trails, lakes and other nature-y things. I’m not going to list them all but there’s a ton. Silver Lake, Douglas State Trail, Quarry Hill Park/ Nature Center, Chester Woods, Foster Arend Park. etc…
• Heritage House – Victorian-era house  (only open in Summer June-August) with tours and antiques
• Plummer House – Built in 1924, English Tudor mansion with 11 acres of landscaped grounds
• Minnesota Children’s Museum

Things to do (Minneapolis)

• Minnehaha Falls/Park – Beautiful falls and park right off the Mississippi River. There is also a little restaurant called the Sea Salt Eatery with local beers, fish, shrimp, that is amazing. They also have a little ice cream shop in the back. I high;y recommend the Nicollet Drive Pothole (no that’s not a joke it’s actually the name of an ice cream)
• Lock and Dam #1 of the Mississippi River – Beautiful views of the river and a self-guided tour of the lock and dam where you can get really close and see how it works. Very cool! My mom and I spent like an hour here.
• Mall of America – We didn’t go here because my mom doesn’t like crowds but it is a fun touristy thing that everyone will ask you if you went. There are so many things to do here! There’s an aquarium, water park, flight simulator and more just to name a few.
• Bakken Museum – A museum of electricity featuring Frankenstein! It was also originally sponsored by Medtronic. They sadly are not open on Mondays so we didn’t get to go but I really wanted to.
• Walker Art Center
• Minneapolis Sculpture Garden featuring the classic “Spoonbridge and Cherry” sculpture
• There’s also a bunch of other parks, lakes and other nature-y things to do here as well.

Miscellaneous Things

• If you get blood drawn in Peds you get a rubber duck. Don’t let them skimp out on the duck. I’m still a bit salty that I was denied a duck because I’m an “adult” now and they don’t have them down in the adult section. Also, ask for stickers if you want one. I got a Pua (the pig from Moana) sticker after my echo and wore it proudly.
• Navigating Mayo is very confusing but the people are very nice and are more than happy to help with directions or anything else you need. One day we forgot our paperwork and the people at the information desk printed it right out for us.
• If you are in a hurry, you can pull into the drop off at the Gonda Building and the parking guys will take Holter Monitors and things you need to drop off. It was very nice of them to do this for me when I was there last week.

These are just a few things I have learned over the years going to the Mayo Clinic. Hopefully, this information will be helpful to you and can put your mind at ease (even if it’s only about where to get good food for dinner). Good luck and enjoy Rochester!

Timothy Syndrome is a rare form of Long QT Syndrome that comes with several possible complications: webbed hands and feet, developmental delays, structural problems with the heart, dental problems, gastrointestinal issues, and a weakened immune system, among others. There’s no definitive count of how many people have the condition, but the estimate is somewhere between 30 and 50 people worldwide. Because Timothy Syndrome is so rare, research is sorely lacking.

Mary Ann’s son, Lee, had this condition. He was diagnosed when he was 1 year old. When he was 5, he passed away after hypoglycemic seizures—a complication he faced as a result of Timothy Syndrome. Just a month before he died, Lee dressed as Superman for Halloween, and so did the rest of the family. He earned the nickname “SuperLee,” and it stuck. He left a Super legacy behind.

The milk-and-cookies fundraiser is one part of that legacy. The family held the first fundraiser in 2011, the year Lee was diagnosed. After several long, difficult months, they wanted to throw a party to thank everyone for their support and raise awareness about Timothy Syndrome. They also wanted to raise some money for the SADS Foundation, specifically for Timothy Syndrome support and research.

The party was simple. It was an open house, so people could come and go as they pleased. Guests munched on cookies and milk, and the Ciciarellis gave out information on Timothy Syndrome. No one was required to donation, but everyone was encouraged to. The amount didn’t matter—every dollar mattered. By the end of the party, thanks to their roughly 100 guests, the Ciciarellis had raised about $15,000. Mary Ann worked with the SADS Foundation to set up a special fund for Timothy Syndrome.

That party has since become a tradition. Old friends of Lee’s still stop by with their parents, and Mary Ann is grateful to them for helping keep Lee’s memory alive.

Since the event is held around the holidays, the Ciciarellis give their guests a special Christmas ornament to remember the event and the cause.

The community has stepped up to offer support. Friends have helped by donating cookies and milk, and local bakeries also help out with donations. For the most recent party, a company donated a bounce house, and a local singer/songwriter gave a few hours of performance time.

Mary Ann also became part of a larger effort. In August 2015, just a few months before Lee’s death, she was one of three women who founded the Timothy Syndrome Alliance, or TSA. Another founder, Courtney Waller, has a daughter with Timothy Syndrome. Courtney’s daughter was featured in a CBS story about children with rare diseases.

The other founder is Katherine Timothy of the SADS Foundation—the person Timothy Syndrome is named after. She spent a lot of time following the kids who turned out to have this condition.

But there are still a lot of unknowns about Timothy Syndrome. That’s where the TSA comes in—one of its goals is to be a source for funding research. The alliance hopes to partner with a major medical facility in the near future.

One key aspect of Timothy Syndrome that needs to be researched is the life expectancy of people who have it. Many people with the condition die during childhood, but there is a 27-year-old woman still living with it.

The alliance also exists to be a resource for families. The TSA has connected with Timothy Syndrome families in different parts of the world, including Norway, New Zealand, and Hong Kong. And some of the money raised for the TSA goes toward scholarships for families to attend the SADS Conference, where they can connect with other families in person.

As for Mary Ann, supporting Timothy Syndrome families and searching for answers has become her life’s work. “I can’t help Lee anymore,” she said. “But I can help other kids like Lee.”

What you can do

If you would like to make a donation to the Timothy Syndrome Alliance, click here. 

If you are interested in holding a fundraiser for Timothy Syndrome, contact Mary Ann at tsaciciarelli@gmail.com.

You can also follow the Timothy Syndrome Alliance on Twitter.