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.