Newly Diagnosed
Dear newly diagnosed family,
Welcome to the ZTTK family!
We are so glad you found us. Please know that you are not alone. Every member of this community has experienced the tidal wave of emotions that comes with getting this diagnosis. Hundreds of families around the world are walking with you on this journey. You can lean on us. We are here to support and embrace you. Although this may not be what you imagined for you or your loved one, this rare life is transformative and brings with it hope, resilience, and many unique blessings.
Please take the time that you need to process this news, speak with your medical specialists, and care for yourself and your loved ones. And, when you are ready, here is a roadmap to help you through the early days of diagnosis.
LEARN
Never heard of ZTTK Syndrome before? That’s okay, neither had we! We encourage you to learn more about this ultra rare disease. Here are some highlights:
ZTTK Syndrome was first discovered in 2016. There are currently fewer than 70 documented cases in scientific literature, but the ZTTK SON-Shine Foundation’s Facebook group represents more than 250 families, with new families joining every week.
ZTTK Syndrome is caused by a heterozygous loss-of-function mutation in the SON gene, which means that one of the two copies of the SON gene becomes non-functional due to genome sequence mutations or deletion. Most documented variants are “de novo,” meaning they are not inherited, but inherited mutations of the SON gene can occur. Because ZTTK is caused by a loss of function on the SON gene, we sometimes refer to our loved ones with ZTTK as our “SON-shines.”
Every person with ZTTK experiences the syndrome in their own unique way. The features of ZTTK Syndrome vary by individual, but can include some or all of the following: intellectual disability, neurological symptoms (including seizures), metabolic and gastrointestinal abnormalities, immunodeficiency, poor growth, global developmental delay, speech/language difficulties, and feeding difficulties.
The ZTTK SON-Shine Foundation is the only 501(c)(3) non-profit organization dedicated to raising awareness, promoting medical research, and advancing the interests of all individuals affected by ZTTK Syndrome.
To learn more, please check out the Foundation’s website at https://www.zttk.org. There, you can find a lot of information about ZTTK Syndrome, including a list of clinical features, scientific research papers, recent news and events, and stories of other families living with ZTTK. We encourage you to share our website with your medical specialists as well.
CONNECT
Getting a ZTTK diagnosis can feel very isolating, but there are many others out there who have experienced what you are going through. Together, we can support and strengthen one another. Here are some ways that you can connect with families like yours:
Join our mailing list.
Connect with other ZTTK families by joining our private Facebook group for primary caregivers and individuals diagnosed with ZTTK:
Encourage your extended family members and friends to join our public Facebook page.
If you are based outside the United States, check out our International Ambassadors page to connect with other families in your region.
BE COUNTED
We are asking all ZTTK families to sign up for Rare-X at https://rare-x.org/zttk/. Rare-X offers a data collection program that collects, aggregates, and anonymizes data about ZTTK patients, which can be used by scientists and researchers around the world. Participation in data collection programs like this are essential to developing treatments for ZTTK and enhancing medical care for individuals with ZTTK.
Have questions about Rare-X? Please contact Board members Ada Lio (alio@zttksonshinefoundation.org) and Kerry Tirrell (ktirrell@zttksonshinefoundation.org).
MEET OUR RESEARCHERS
Our Foundation is proud to have a team of world-class scientists supporting research and drug development efforts. Led by our Primary Researcher, Dr. Erin Ahn, and Board member Nathan Guo, our Scientific Advisory Board (“SAB”) is committed to helping families like ours. We live in an exciting time where groundbreaking scientific advancements are making treatments for rare diseases possible, and our Foundation is at the forefront of these efforts for ZTTK Syndrome.
For more information about our scientific research and drug development efforts, please contact Nathan Guo at nguo@zttksonshinefoundation.org.
MAKE A DIFFERENCE
As an ultra rare disease community, spreading awareness, fundraising, and running a non-profit are not easy! We depend on the engagement of this community to keep our Foundation going.
Please join our mailing list and Facebook group to learn about upcoming events and fundraising opportunities.
If you are interested in getting more involved in our fundraising efforts, please contact Ada Lio, alio@zttksonshinefoundation.org.
If you are interested in getting more involved in the Foundation, please contact Shannon Boyle, sboyle@zttksonshinefoundation.org or Kerry Tirrell, ktirrell@zttksonshinefoundation.org.
If you are interested in becoming an International Ambassador, please contact Andrea Machado, amachado@zttksonshinefoundation.org.
MARK YOUR CALENDAR
September 20 is the ZTTK Awareness Day. Throughout the month of September, we will host events and raise awareness for our SON-shines. On September 20, we encourage you to wear yellow to show your solidarity with and support for this rare but mighty community.
The last day of February (February 28 or 29, depending on the year) is Rare Disease Day, another opportunity to spread awareness and raise support for ZTTK Syndrome.
Warmly,
The ZTTK SON-Shine Foundation Board
Shannon Boyle, President and Chair
Kerry Tirrell, Vice President and Vice Chair
Casey Ganer, Treasurer
Dr. Erin Ahn, Primary Researcher and Scientific Advisory Board Co-Chair
Ada Lio, Secretary and Fundraising Chair
Andrea Machado, International Ambassador Liaison
Tiffany Hunt, Communications Chair
Nathan Guo, Scientific Advisory Board Co-Chair
Francisco Rodriguez, Marketing Committee Chair