The Pediatric Patient and Family Advisory Council at Dana-Farber and Children’s Hospital Boston

Ana Paulina and Andres Treviño

Photo of Ana Paulina and Andres Treviño
We joined the PFFAC in April 2005, and represent two types of minorities at Dana-Farber and Children’s Hospital: Spanish-speaking families and patients with rare diseases.
Our first child, Andy Treviño, was born on May 15, 1999. Only 48 hours into his life, Andy got a fever that proved to be the first shot fired by his immune system in a potentially deadly battle.
We moved to Boston from tour native Mexico and had a second child who gave part of herself so Andy could have a chance at survival.
Children’s Hospital Boston researchers Raif Geha, MD, Jordan Orange, MD, Francisco Bonilla, MD, PhD, Steven Gellis, MD, and Lynda Schneider, MD, discovered that Andy had a mutation on the Nuclear Factor Kappa B Essential Modifier (NEMO) gene. This mutation led to a life-threatening condition known as Primary Immune Deficiency (PID), which caused Andy’s immune system to fail.
Knowing the exact genetic mutation gave us several options to treat Andy:
1) Maintain: Use antibiotics and antivirals for life to protect him from infections and give regular IV infusions of gamma globulin (antibodies obtained from blood donors).
2) Enhance: Boost Andy’s immune response with medications, proteins and regular IV infusions of gamma globulin.
3) Replace: A stem cell transplant (also called a bone marrow transplant) to give Andy a new immune system.
We talk about our experience as an “extreme parenthood adventure”: More than 650 days of hospitalization and a constant battle against life threatening infections.
A stem cell transplant substituted the NEMO gene, but it may also have been a “problem exchange,” meaning that the immune deficiency may be fixed by transplantation, but the chemo used in the procedure may damage other organs.
We quickly decided that if we were going to go through IVF, we wanted to be as certain as possible that our new child would be a genetic match to Andy and wouldn’t have NEMO. The NEMO gene is passed on by the mother, but only males can get the resulting PID. And since there’s a 50 percent chance that any male born to a mother with the NEMO gene will get the disease, we decided that our best option was to have a girl.
To do so, we went to a fertility clinic for Preimplantation Genetic Diagnosis (PGD), a process that involves the removal of a single cell from a fertilized embryo to test it for genetic diseases.
Sofia’s arrival and health meant we could move ahead with Andy’s stem cell transplant. We turned to Dr. Sung-Yun Pai, a stem cell transplant specialist with Dana-Farber/Children’s Hospital Cancer Care, to do the procedure.
Sofia donated umbilical cord and bone marrow stem cells for her brother’s stem cell transplant in October 29, 2004. Her stem cells substituted Andy’s immune system.
Life goes on for us. After so many years here, we have decided to move permanently to Massachusetts. Andy’s immune system, which is actually Sofia’s immune system, is working well now. Andy lives immune!
Early on, we started a Web log, or blog, so we could let family and friends know how Andy was doing. It is written in Andres’s native Spanish and his second language, English, and has since become a place for us to vent, worry, hope and celebrate. We invite you to visit it at http://www.andy.org.mx.