Etan Briceno is a beautiful 8-month old baby boy who was born to mother Kate, father Giordano and proud sister, Charlotte in August of 2022. Etan was born in Toronto, a healthy baby weighing 3.167 kg.
At four days of life, Etan suddenly got very sick. He was admitted to SickKids Hospital in Toronto where he was diagnosed with a rare, life-threatening condition called Early Onset OTC Deficiency (OTCD). The news of the diagnosis turned our family’s world upside down.
We spent the first month of Etan’s life in the hospital. We did not know at the time if we would ever be able to bring our newborn son back home, or if Charlotte would be able to play with her little brother again. Our lives and hopes for our son’s future were shattered.
OTCD is a rare genetic condition which affects about 50 Canadian newborns every year. Due to lack or complete absence of the OTC enzyme - responsible for breaking down proteins into urea - the body accumulates toxic levels of ammonia. High concentrations of this neurotoxin can cause brain damage, coma and death.
[I’m holding Etan in my arms at SickKids Hospital on September 1, 2022 shortly after his admission]
There are over 400 different pathogenic mutations identified in the global database for OTCD. Etan has one of these mutations. Preclinical data for OTCD shows promising results for the possibility of treating this condition with a single gene therapy treatment.
The field of gene therapy continues to expand and progress providing hope for Etan’s future and other babies with this condition. Unfortunately, Etan does not qualify for any upcoming or ongoing clinical trials for OTCD because of his age. This is devastating since babies diagnosed with this condition have the most severe form of the disease.
Even with medication and a strict diet, babies with OTCD can get extremely sick with repeated metabolic crises. Time is crucial. For this reason, we are launching this fundraiser in search of the best cure for Etan and other babies with OTCD. A cure would help Etan have a chance at a good life, free of metabolic crisis, brain damage and death.
Will you help us today? Please share our story, donate, and get involved by organizing a fundraiser to help our cause.
[Etan is in the NICU at SickKids Hospital, grasping my finger. He was only a few days old in this photo]
Our family is looking forward to a ‘normal’ life after Etan receives a cure for his condition. Everyday we live in fear that Etan’s health will rapidly decline because of ammonia levels unexpectedly going up. But we also have hope.
100% of the funds raised via this campaign will go towards advancing research and establishing a potential curative treatment for Early Onset OTCD. Here is a breakdown of anticipated costs:
$1M - Research & Development
- Hire a team of scientists to lead the project
- Develop/test potential treatment in lab
- Manufacture gene therapy treatment for trial
$1M - Launch Clinical Trial
- Partner with an established clinic to administer the therapeutic treatment (investigational drug)
- Complete five year follow-up required by Health Canada
[Etan and his older sister, Charlotte sharing a joyous moment together]
Thank you for reading our story and stay tuned for regular updates on our journey.