At just seven months, Marian needed her arms to support her, her belly was oversized from an undetected enlarged spleen.
Hope For Marian and NPC
Shortly afterwards, we found hope and the path to survival. Investigational treatments like Adrabetax are stalling the progression of NPC. Marian receives this critical lifeline every two weeks under anesthesia through a spinal tap. She will need to do so for the rest of her life.
Initially, Marian flew to Chicago for treatments, but now is able to receive them at Children's Hospital Los Angeles via a special protocol.
These early months after treatment were a miracle to see Marian come to life again. At 20 months Marian could not take a single step. At 23 months and after eight treatments, she can very proudly walk across the room.
Her life still very much hangs in the balance. The treatment is a critical lifeline, but not a cure. Marian will die without a cure. Gene therapy, mRNA, cyclodextrin combination therapies, and more are being researched now. They hold the key to survival but are in drastic need of funding to arrive in time. Marian will die if they are not accelerated. This is what we are fighting for. This is our story told as our family of five fights together to help keep Marian and NPC children on the right side of hope, and life.
We are parents to two strong and beautiful girls: Emily, age eight, and Marian, who is five, and one happy baby boy, Adam, born through the magic of IVF with PGD testing, who is one. Paul and I met at Loyola Law School Los Angeles, where we graduated in 2009. Paul is an education attorney and I was a non-profit attorney for children in the foster care system, and now volunteer for Hope For Marian and NPC advocacy full time. We live in Southern California with our children and our cat, George.