Rare Every Day: Experiences with Tuberous Sclerosis Complex

In support of Rare Disease Day on February 28th, Novartis is adopting the theme “Rare Every Day” to provide a unifying voice and to enhance awareness and understanding of the experiences, challenges and victories that members of the rare disease community face daily.

This year, Novartis is shinning a light on the rare disease tuberous sclerosis complex (TSC). TSC is a genetic disorder that may cause non-cancerous tumors to form in vital organs and can affect many parts of the body, including the brain, kidneys, heart, lungs and skin, with some patients exhibiting seizures, autism, cognitive delays or behavior issues. Novartis spoke with members of the TSC community to hear some of their “Rare Every Day” experiences, which, while uniquely personal, often reflect shared experiences of the broader rare disease community.

Living with a rare disease every day

Diagnosis with a rare disease can be a challenge for families who may not know what to expect. Lisa Moss recalls when her son Evan was diagnosed with TSC after he developed seizures called infantile spasms during his first month of life. “We didn’t really know – would he have all of these symptoms, would he have some of these symptoms? It was pretty scary.”

Knowing where to find the right support can be a crucial first step following a rare disease diagnosis, to help prepare for what to potentially expect. “I think the best piece of advice to give someone who’s just found out that a family member has TSC is to educate yourself and make connections with people in the TSC community who are dealing with similar things,” said Lisa.

TSC affects each person differently and manifestations can change over time, but most people share TSC genetic threads in common. TSC is either genetically inherited or caused by a sporadic mutation to the TSC1 or TSC2 genes. Robert Grandia, who is an adult with TSC, experiences some less sever manifestations associated with the disease, including mild cognitive delays and skin manifestations. His TSC experiences vary from other members of his family, who have TSC and manage more severe symptoms.

Living with a rare disease highlights the importance of developing a support system to help manage the everyday ups and downs. Robert emphasizes this fact saying, “I rely on my wife a lot. I rely on my family a lot. I would say always have that support system and just be strong.” Living with a rare disease like TSC can often be better managed with the right support, and in some cases, can help bring families and communities even closer together.

The positive outlook and strength of families like the Moss’ and Grandia’s inspire us at Novartis to continue working to support the rare disease community by providing resources and conducting research into rare diseases like TSC. To learn more about living every day with TSC and other rare diseases, search the hashtag #RareEveryDay on Twitter.

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