The diagnosis of a child with an incurable disease can throw your world into a tailspin. Tuberous sclerosis complex (TSC) has redefined my responsibilities as a parent and led me on a journey I never planned or expected. As the parent of three children, two with TSC, it is my responsibility to educate and foster a better understanding of TSC and the ongoing challenges we face daily. I am the voice for my daughter, who, due to significant developmental delays resulting from TSC, does not have a voice of her own. She relies on my voice to articulate how she feels and what is happening inside her body. I am my son’s voice, for he is too young to speak. He is developmentally on track and doing well for two reasons: advances in research over the last decade, and my ability to stay up-to-date on what is the recommended course of action. I have no control over what tomorrow will bring, but I can be an active part of our future. TSC is a significant part of our life but does not define my family.

With a disease that can be so devastating I have found advocacy to be healing, empowering and life changing. Volunteering with the Tuberous Sclerosis Alliance of the Delaware/Lehigh Valley for the past 12 years has allowed me the opportunity to meet many other families dealing with TSC Currently, I serve as the TS Alliance’s Vice Chair for the local community alliance, supporting local families living with TSC. My children have created a unique opportunity for me to stay connected with many different families. Because of my 15-year-old daughter, I understand the long-term struggles with a severely affected patient. I have first-hand experience with uncontrolled seizures and managed significant developmental delays, including autism. It is because of my 3-year-old son that I stay current on information regarding infants and young children and proactive therapies. Not only do I share fellow families’ experiences, challenges, and triumphs with the TSC teen population but also with the young and newly diagnosed. This allows me to understand the needs relating to the TSC and non-TSC specific issues that affect many families and patients. I am proud to be a part of a community that has such an impact. The staff at the TS Alliance has provided endless support, dedication and commitment to afford our community to educate, advocate, and raise vital funds for TSC.

I first learned of the TSCRP in 2006, when advocating for research in Washington, DC. My children as well as many other families have benefited from the outcomes of the research funded by TSCRP. I had the honor of being nominated by the TS Alliance to serve as a consumer reviewer on the TSCRP peer review panel in 2016. My experience with the TSCRP has been rewarding, enlightening, and empowering. On-site review meetings have been a particular representation of how dedicated the research community is to TSC research. My voice and experience representing the community was appreciated and respected, and it has been an honor to be afforded this opportunity. I wish to express my deepest gratitude for the passion and dedication from the Congressionally Directed Medical Research Programs’ staff who devote their time to this cause. The TSC community is fortunate that there is a dedicated commitment from the scientific community to understanding the pathogenesis and manifestations of TSC with the goal of improving the lives of individuals with TSC. This relationship has reinforced my determination and passion to continue to advocate for vital funding for TSC. As advocates, we need to continue to advocate for vital funding to continue to allow our dedicated scientific community to understand and provide additional treatment options.

The future of TSC lies with the research being done today. Until the mysteries of TSC are unlocked, we need to continue to educate and advocate for those who cannot. We must continue to look for new information and challenge ourselves to explore avenues that may lead to an even better quality of life for all TSC patients, current and future. The TSCRP funding is essential: it provides us hope that we will win this fight and we are not alone. We all play a vital role in providing hope and support as we move towards better quality of life for all those impacted by TSC.