Lucia (2024)
Based on an interview with Francesca and Pep, Lucia’s mum and dad (June, 2024)
We first met Lucia when she was two years old. At that time, her parents Francesca and Pep were learning more every day about the severity of her TSC2 and PKD1 (Polycystic Kidney Disease) diagnosis. TSA thanks Francesca and Pep for sharing this update on their family’s story.
Early on in Lucia’s journey, Francesca and Pep were told that due to the nature, location, and number of tumours on her brain, Lucia’s condition would not benefit from epilepsy surgery. Since then, they have become passionate advocates for families living with Tuberous Sclerosis Complex (TSC), particularly TSC2. During the initial stages of Lucia’s diagnosis, the distinction between TSC1 and TSC2 was unclear, leading to confusion and misinformation. Both TSC1 and TSC2 gene mutations can cause symptoms ranging from mild to severe. However, research suggests that mutations in the TSC2 gene often lead to more severe symptoms compared to mutations in the TSC1 gene.
Though Lucia’s family’s experience has been marked with uncertainties, they have approached each challenge with love and grace. Lucia is a fun loving, cheeky and determined child who brings their family of five so much joy. In their own words:
Lucia is so tenacious with everything she does – how can we not do everything we can to support her when she gives her all?
Their support includes trialing new treatments, which led Francesca to ask about medical marijuana after reading about its’ success in treating a range of conditions from seizures to anxiety. After discussing with Lucia’s doctor, who agreed CBD oil was worth trialing, Francesca now calls it “liquid gold” for her daughter.
Not only did Lucia’s anxiety reduce, but her seizures reduced significantly, down to two or three a week after experiencing up to five a day.
This past year has led to some exciting milestones, including Lucia taking part in dance class for the first time and performing on stage at the end of year concert. When Lucia was first diagnosed, they wondered if they would ever see her participate in the same activities their two other children took part in. Seeing her being fearless on stage was a huge achievement.
They are also encouraged by Lucia’s continued efforts to communicate, though she is still non-verbal. She is persistent at expressing herself when it comes to wanting food, drink, and toileting.
While her progress is positive, Francesca and Pep wonder if their passionate and cheeky daughter will ever have a job or gain some independence due to the severity of her symptoms. Though the future is still very uncertain, their dedication does not waver.
