Author: Cristina RosaPatient or Advocate: Juju McClaryDisease Affiliation: CLN2
My name is Cristina Rosa, and in May of 2021, my son was diagnosed with CLN2, which is a type of Batten disease. My son’s life started to deteriorate in quality. All of his previously earned abilities were weakened. His seizures began when he was three years old. It took a year and a half for my son to get his diagnosis. As a result of this, my family and I have experienced a great deal of emotional distress.
I took action right away to learn more about this disease and the therapy choices accessible to my son. The current standard of care for CLN2 is bi-weekly infusions of an enzyme replacement medication that takes hours to administer, not to mention time spent in the hospital, job and travel delays, weariness, and so on. This could not be the only option for me. This prompted me to conduct further research, and I learned that gene therapy treatments are being explored for a variety of Batten diseases, including CLN2.
My children inspire me to raise awareness about rare diseases.