Patient Testimonies | October 16, 2025
My name is Kelly, and I am the mother and now caregiver of my 23 year old son, Victor. Before he got sick, Victor was smart, funny, and determined. He loved coding and wanted to build video games. He was fascinated by the weather since kindergarten and would tell everyone about approaching storms all over the world. He enjoyed anime so much that he was teaching himself Japanese.
Victor was diagnosed with autism as a kid and the doctor told us he wouldn’t go to college because of it. He was wrong. Victor graduated high school with an advanced diploma and was studying computer programming in college, even achieving an academic award a few months before he became sick.
In December 2022, after a sinus infection, everything changed. Almost overnight, Victor began hallucinating, became confused, forgot basic skills, lost continence, had significant behavioral changes, and could barely speak. We were told he had a stroke and PANDAS, an autoimmune condition triggered by the sinus infection. A month later, these were deemed misdiagnoses as it was confirmed he actually had a brain lesion that had since resolved.
We were told he’d return to baseline in “weeks to months.” It’s now been almost three years, and Victor has been hospitalized more than two dozen times. Some of the wrong medications were near fatal. He endured misdiagnosis after misdiagnosis, before finally learning the truth: catatonia and 22q11.2 deletion syndrome, a rare genetic disorder.
We are now working with Dr. Robert Shprintzen, who has dedicated his life to this syndrome. He strongly recommended metyrosine for Victor because it targets the excess catecholamines driving his symptoms and no other alternatives address this root cause. However, insurance has denied it. Without insurance, 120 capsules cost $36,700 a month; far beyond our reach.
Without this medication, Victor will have no quality of life and may ultimately be forced into an institution, a devastating and preventable outcome. I work full-time from home while providing 24-hour care. He no longer recognizes parts of his own home or his own family. This illness has stolen his independence, his confidence, and the joy in his eyes. His other urgent health needs have been delayed for months. Being a caregiver is beyond stressful. I have to bathe him, feed him, and dress him.
I’ve contacted drug manufacturers, rare disease organizations, the Department of Medical Assistance, fought insurance denials, and reached out to Senators.
Metyrosine can treat the root cause of these symptoms. It could give Victor the chance to speak again, care for himself, and return to the passions he once loved. Instead, my son is left to suffer because of cost, policy gaps, and a system that fails rare disease patients.
It is unethical and inhuman to leave someone suffering when there is a medically sound treatment, supported by one of the leading experts in this condition, that could restore function and dignity.