Testimonials
In this section, we share a selection of meaningful stories—clearly told and well-documented.
We understand that these images and accounts may be especially difficult to process for those who have just received an SLC6A1 mutation diagnosis for their child. Yet, the pain each of us experiences is also what drives us forward. It fuels our determination to fight every day for effective treatments that can offer our loved ones the best possible quality of life.
We look with hope to the progress achieved in other rare neurological conditions, where safe and effective therapies are now available. The challenges we face give us the strength and determination to pursue the same goal—without delay.
GIULIA'S STORY
Adoption
We adopted our little Giulia with joy and gratitude, just as we had previously done with Sara, her sister. Both of our adopted daughters have an extra chromosome: they have Down syndrome. In our family, this is experienced as a blessing, a special gift that brings happiness.
Unusual Development
However, we soon realized that something was wrong with Giulia. She showed a profound delay, was extremely hypotonic, passive, and often complained during the night. Her distress was evident, but we couldn't understand the cause. Over time we realized that her delay was so severe that she would likely never develop the ability to speak.
From the quiet, hypotonic child she had initially been, Giulia began, in early childhood, to show increasing agitation. As time went on, she became more and more restless and aggressive. The situation escalated to an unsustainable level: she would scream incessantly, sometimes for 36 consecutive hours, she would hit, break objects, and wander aimlessly around the house as if driven by an uncontrollable force. She refused food and water, and became rebellious whenever we tried to dress her.
Epilepsy
We had suspected for some time that Giulia might be experiencing seizures. As a toddler, she would occasionally collapse with strange arm and leg movements. Sadly, our suspicions were confirmed when she turned nine: she developed a severe, relentless, and dangerous form of epilepsy. None of the many medications we tried were effective.
At this point, in addition to having to deal with Giulia's profound agitation, we found ourselves managing increasingly frequent epileptic episodes, that could even recur every minute. As parents and as a family, we had reached the limit of endurance: our lives revolved entirely around our daughter's health conditions.
The Diagnosis
Although epilepsy may be present in Down syndrome, Giulia's form was abnormal. Doctors hypothesized the presence of another disorder and performed genetic sequencing. This led to the diagnosis: a mutation in the SLC6A1 gene.
SLC6A1 Mutation
The diagnosis marked a turning point for us. For the first time, we no longer felt alone. Other families, scattered around the world, were facing the same struggles with their children: intellectual delay, epilepsy, aggression, insomnia, agitation, and much more. None, however, had the dual diagnosis: Down syndrome and SLC6A1-related neurodevelopmental disorder. Giulia was—and still is—a worldwide unique case.
Hope
The diagnosis suddenly opened the door to a world that was entirely new to us. We reached out to patient organizations around the globe and were met with warmth, understanding, and a sense of belonging—as if we had found a new, extended family. We could finally share our concerns and be heard.
What truly marked a turning point, however, was our ability to make much more targeted therapeutic requests. Discovering that there are so many promising therapies currently in development gave us back something we desperately needed: hope.
Hope that one day Giulia can enjoy a better quality of life—a life that is full, meaningful, and worth living.