Working with a team of more than 100 UCSF specialists, Tippi MacKenzie, MD, and Elliott Vichinsky, MD, are leading work to bring cutting edge therapies to patients with genetic blood disorders.
For Dr. Vichinsky, this work began more than 30 years ago, when most patients with these disorders died in infancy. Today, thanks to cutting edge research and revolutions in patient care, patients are living much longer, higher quality lives.
This work took a major leap forward in the fall of 2017, when his colleague Dr. MacKenzie launched the world’s first clinical trial of an in-utero stem cell transplant therapy. Her first patient, baby Elianna, was born just four months later.
Now 18 months old, she is being treated by Dr. Vichinsky. Elianna's birth came after a second-trimester diagnosis of a normally fatal blood disorder, Alpha Thalassemia Major. Her story hints at the lifesaving possibilities of fetal therapy for families who face similarly devastating diagnoses.
Refer to Fetal Treatment Center
One of the major causes of suffering for Children throughout the world are blood disorders. There are 500,000 births a year with babies with these blood disorders. Most of them die in infancy. We're working on therapies that will improve those Children's lives every day, Get them off transfusions, prevent problems. And now with field transplantation as an option we may be able to cure these Children before they're born. I came to U. C. S. F. Because fetal surgery was born right here and I love being able to look at parents in the eye and say we know what's going on with your child. There are also a lot of patients that we don't quite know how to help but we know how to do the research to try to answer those questions. And so I love the privilege of being able to go to my research lab and then being able to bring some of those therapeutics to patients in clinical trials. I know my body so well. I just kind of knew that I was pregnant when we found out it was going to be a girl that changed everything to. And so the nurse just kind of mentioned are red blood cell counts were low. So when we got the diagnosis that Eliana was up a thalassemia major, our thought was babies don't survive with this diagnosis with this disorder, it was devastating hearing that your baby sick and they can't do anything. But the great thing was that the next day after our ultrasound, the genetic counselor from the doctor's office was like you know there's a research study in san Francisco mm So when we heard that UCSF clinical trial was available that there was another option for us, there was hope and I held on to that hope. The exciting work that U C. S. F. And UCSF Benioff Children's Hospital. Oakland are doing together are due to the integration of basic science and clinical care. I see for the first time really the potential to change the lives of these Children throughout the world. We now have treatments I believe that we're developing that will enable us to cure Children. One of the main things we've discovered is that there are cells trafficking between the mother and the fetus. The few transplant cells from the mother to the fetus will tolerate them and the transplant should be more successful. So we did the one transfusion and that went really well. And that was my first time ever in a operating room. The next week was the second blood transfusion. And that was when they also took my bone marrow and filtered out the stem cells. If there's a chance that smaller the chance that this could work. I mean why not? Hey, the first time that we've seen Eliana, I was just so happy, overwhelmed you feel your heart girl. She was this little tiny thing they put right on my belly. And I just remember saying that the shells, she has so much hair. She, she did. Eliana is the first patient in our clinical trial to receive stem cells prior to birth. Here. She is thriving going through fetal transplantation, loved by her family. This is what really medicine is all about. You know, when I started out taking care of these Children, most of them died in infancy. Now I'm following them after birth and I'm watching them grow up. It's a different world for me Then. It was 30 years ago. My great hope is that the successes we have seen with Ileana will enable us to offer therapies like this, the Children with genetic disorders throughout the world.
