Sara has had an emotional journey raising her daughter, Gabriela, who was diagnosed with CLN7 at age six. In the years since diagnosis, her family has worked tirelessly to make Gabriela’s life less painful and more beautiful, and to bring awareness to the community through Rare Diseases Croatia, known locally as Hrvatski savez za rijetke bolesti.
Sara and her husband welcomed a healthy baby girl into the world in 2009. A first-time mom, Sara saw her daughter Gabriela developing just like other kids in their town in Croatia. She walked, talked, sang, and learned how to ride a bike without trouble.
Sara began to notice changes in Gabriela’s behavior at age three: “She started getting cranky and nervous, and she cried a lot. She was never like that before.” At the time, it was difficult for Sara and Gabriela’s father to tell if these emotions were the product of stress during a big apartment move or if something more serious was going on. When physical symptoms began to develop, Sara recalls feeling like something wasn’t right.
“Gabriela would hallucinate, and one time she thought she was seeing snakes all over the rooms, so she would not stop screaming,” remembered Sara.
By age four, Gabriela began having seizures in the day, sometimes mid-walking, which Sara described as “short absences.” Gabriela looked like she was just nodding her head. If she seized while walking, it looked like she was tripping. Sara recalls this happening over 200 times each day. After six months of suffering these episodes, Gabriela was diagnosed by a neuro-pediatrician with epilepsy and prescribed a seizure preventative medication.
The first time that a healthcare provider mentioned the possibility of Batten disease to Sara, Gabriela was five years old. This physician suggested that the family pursue enzyme testing to confirm the diagnosis in Hamburg, which was more accessible than options in Croatia at the time. The test ruled out CLN1 and CLN2, two more common types of this rare disease. The search for an answer continued, as there wasn’t a test available to diagnose even rarer forms of Batten disease.
What followed was a long path to a diagnosis. Along this road were additional tests, including three different MRIs, a skin biopsy, and a visual evoked potential (VEP) test, which examined the ability of visual images to correctly make their way to the brain.
Gabriela had received all of the ‘good’ or normal test results, but she had all of the symptoms still. – Sara
Gabriela’s family experienced a confusing paradox — “Gabriela had received all of the ‘good’ or normal test results, but she had all of the symptoms still.” Sara recalls turning to the internet with every new symptom Gabriela developed; it was through searching that she found a researcher at the University College London who specialized in rarer forms of Batten disease. Sara, Gabriela’s father, and Gabriela all had genetic blood tests conducted in the hopes of confirming a diagnosis. Eight months later, just before Gabriela’s seventh birthday, she was diagnosed with CLN7.
Gabriela’s symptoms had progressed severely during this time. She could no longer walk or see. In addition to a lot of love and emotional support, Gabriela now requires a wheelchair. She recently lost her ability to speak, first with an inability to explain her answers, then with shortened sentences, and then word-by-word. Sara has courageously tried to find her peace all the while.
Finding ways to introduce joy is just as important to Sara as managing Gabriela’s pain at this stage of her disease.
“I focus on her quality of life and how to make it easier for her,” explained Sara. “We try to make her laugh and do fun stuff with her, but there’s not a lot we can do. I need to make decisions that are good for her, even if it’s emotionally hard for me.” Gabriela gets tired easily and does not enjoy spending a lot of time outside of the house anymore.
I focus on her quality of life and how to make it easier for her. – Sara
Sara knows that there are a lot of devastating stories online, but the internet has also opened up global resources and community members who offer inspiration, through Facebook and other sites. Sara’s work through Hrvatski savez za rijetke bolesti has also connected her to a number of other parents who are earlier in their diagnostic journeys. Sara knows the importance of having someone to talk to when the process overwhelms you.
Her rationale is simple: no matter where you are in the world, no one should have to feel alone in the fight against CLN7.Patient Stories Overview