Andres Trevino has a very personal take on the NIH’s recent stem cell guidelines. Here, he talks about his son Andy’s rare genetic condition, the daughter whose stem cells saved Andy’s life and the potential stem cells hold for curing other diseases.
My wife is a carrier of a genetic condition that causes the immune system to fail. Ten years ago, we found out the hard way, after the birth of our son, Andy. He had his first life-threatening infection 48 hours after he was born in Mexico City and it took us 19 difficult months to find him a diagnosis.
The name of the disease is NEMO. We found out about NEMO at Children’s Hospital Boston, around 2,280 miles away from our hometown and away from our families; Boston was our last resort. Out of the 20 thousand genes in the human body, researchers at Children’s were able to identify the specific mutation (like finding a misspelled word in the Encyclopedia Britannica) that was causing the deadly problem. Until recently, the last time I checked, there were only about 72 cases registered in the medical journals of children with NEMO, and only half of the cases were alive. Most of them died of infections.
Andy had infections all over his body with different types of bacteria and viruses. He had no tools to fight them. He had infection in his central nervous system, stomach, skin, eyes, blood and elsewhere, even in the bone on his right index finger.
At first, we didn’t know the implications of knowing the roots of the disease, but now we feel fortunate. Knowing about NEMO gave us more options to keep him alive and try to find a cure.
Doctors recommended a bone marrow stem cell transplant to try to replace parts of his immune system and help him fight infections. New bone marrow seemed to be the only way he would be able to reach adulthood. The bone marrow’s NEMO-free stem cells would help him fight infections. The success rate for the procedure greatly depended on the compatibility of the donor, so we searched at public registries worldwide. For two-and-a-half years, we couldn’t find a match.
“There’s always the option of having another baby,” someone told us. We could use the baby’s umbilical cord stem cells for Andy. But we ran the risk of having another baby with NEMO, and on top of that, only one out of four siblings would be compatible with Andy.
We learned about using in vitro fertilization (IVF) to have babies, and pre-implantation genetic diagnosis (PGD) to check compatibility and rule out NEMO. It took us five IVF cycles and 36 embryos to find our daughter, Sofia, and we were blessed with a healthy baby.
Minutes after Sofia’s birth, a doctor gathered umbilical cord blood in a plastic bag that was later sent via courier to a private umbilical cord blood storage location where stem cells were separated and frozen. A couple of weeks later, we learned that the number of stem cells obtained from it were not going to be enough for Andy’s transplant. We were hoping to find a way to increase the numbers of cells without having to take more cells from Sofia. It was a difficult decision, but we knew that bone marrow stem cells are constantly replaced by the body, and we made sure that she would have no side effects. We waited six months until Sofia could donate an additional amount from her bone marrow, and she did fine, thanks to physicians at Children’s.
After almost 1,000 days of hospitalization in Mexico City and Boston, a stem cell bone marrow transplant cured Andy.
My wife and I decided to donate our remaining embryos to the Stem Cell Research Program at Children’s. We knew about the life-changing research done at Children’s and we were hoping that with our cells, researchers could find ways to treat conditions like the one that affected Andy.
After signing at least 10 different consent forms, we transported the embryos from the fertility clinic to the Karp research building at Children’s. We knew some of the researchers there because of the time my son had been in the hospital.
Weeks later, I ran into Paul Lerou, MD, who gave me the news that they were able to obtain two viable stem cell lines from the donated embryos and he invited me to see them. He told me they had one female and one male line, both affected with NEMO.
I didn’t know what to expect. Inside a shallow, circular glass container with a removable cover, I was able to see a group of silver colored cells. It was amazing. Those cells are able to become any other cell of the human body.
I couldn’t help remembering all the feelings we had while we were looking for compatible cells for Andy and how blessed we were with Sofia. Dr. Lerou told me that he didn’t know of any other family with its own stem cell line.
I’m very happy to learn that the National Institutes of Health (NIH) recently released new guidelines for research using human stem cell lines that will allow Dr. Lerou and others to obtain public funding to continue much needed research to find cures.
My only hope is that he’s able to obtain enough funding to be able to obtain stem cells for children with life-threatening diseases who are waiting for compatible cells.
We believe that embryonic stem cell research will revolutionize medicine and provide treatments to many life threatening diseases. It won’t take long until the Stem Cell Research Program at Children’s Hospital Boston is able to unleash the healing power of compatible stem cells for patients who desperately need them. Just as Sofia’s stem cells allowed Andy to fight infections and live a normal life.