July 10, 2023 | Lauren Beck, MD
The DAPM Handoff recently interviewed faculty anesthesiologist Lauren Beck, MD, about Friends of Oliver, Inc., a nonprofit organization that she and her husband, Benjamin Nulsen, MD, founded after discovering their son Oliver’s diagnosis of Diamond-Blackfan Anemia (DBA).
Can you tell us more about Friends of Oliver, Inc.? What inspired its creation? When was it founded, and how did it come to be?
Our good friends, Alex and Jill Wang, approached us about starting a non-profit to raise money for Diamond-Blackfan Anemia (DBA) research a few months after finding out Oliver's diagnosis. Jill had experience with fundraising for a cousin who passed away from complications of Tetralogy of Fallot, and she wanted to help us find a sense of purpose during a deeply challenging time. They started by looking into what was needed to support the few medical research efforts being undertaken to treat and cure DBA.
The two hospital systems that are working on DBA research are Cohen Children's Medical Center (which manages the DBA Registry) and Boston Children's Hospital (which is where most of the gene therapy research is taking place). We realized that only a dedicated non-profit focused on raising money to support these specific efforts would be the best path forward, and Friends of Oliver was officially formed.
Congratulations on a very successful first Friends of Oliver fundraiser! For those of us who couldn't attend, could you share a recap of the event?
Thank you! I think the event turned out even better than any of us could have expected, and that was in large part due to all of our wonderful supporters (both those who were there and also those who supported even if they couldn't attend!). The event was held at Topgolf El Segundo on Tuesday, June 13th, 2023.
At first, we were worried that people who weren't interested in golf would not enjoy the experience, but Topgolf is so fun! It is basically set up like a bowling alley—but instead of throwing bowling balls, you're hitting golf balls. You get a score, and it ends up being a friendly competition with the other people in your golfing bay.
The event also had a step-and-repeat for photos, a slideshow, and raffle prizes. We had a phenomenal turnout from our department and from the GI department. It was great to see the two departments interact and have fun together outside of the hospital!
What is Diamond-Blackfan Anemia (DBA)? How was Oliver diagnosed?
DBA is a congenital bone marrow failure syndrome in which the bone marrow does not produce red blood cells. It is extremely rare, and its estimated incidence is 5 per 1 million births. It is an autosomal dominant disorder; however, in Oliver's case, it was a de novo mutation. In addition to the red cell aplasia, patients may also have neutropenia, immunodeficiency, cardiopulmonary anomalies, craniofacial abnormalities, thumb anomalies, hypogonadism, endocrinopathies, and intellectual disability.
Oliver was anemic at birth with a hemoglobin of 6, and continued to require blood transfusions, which prompted genetic testing. He was ultimately diagnosed at 2 months of age. His particular genetic mutation is a microdeletion on chromosome 3 arm 29, which involves RPL35A, a ribosome associated with erythroid production.
The mainstays of treatment for DBA are glucocorticoids and blood transfusions, and iron overload and early cancers are the most common causes of non-transplant-related mortality in these patients. Bone marrow transplant from an HLA-matched sibling donor has the best chance of success to be curative for the red cell aplasia aspect of DBA—so we are working on that for Oliver!
How has Oliver's diagnosis affected you and your family's lives?
To be perfectly honest, it has been very challenging for all aspects of our lives. From a practical standpoint, it has been hard to balance working with taking him to his medical appointments and also making time for normal family activities. From an emotional standpoint, it was (and still is) really hard to come to terms with the fact that Oliver has this terrible disease and that many obstacles still lie ahead. When I was pregnant, I never even considered the possibility of having a child with a genetic disorder. You have this assumption that you are going to have a healthy child who is going to lead a normal life with all of the same opportunities that you had, and it is really devastating to realize that this is not possible.
That being said, it IS possible to have joy with the sorrow. Oliver really is the happiest, most joyful kid. Despite all the pokes, doctor's appointments, and therapy appointments, he is always smiling and laughing and enjoying life, and we are just so grateful for that.
I am hoping that the silver lining in all of this is that we can make a real impact in finding a cure for DBA and potentially other bone marrow failure syndromes. This experience has made me have so much more empathy for all of our patients and families who are going through similar struggles, and it has made me motivated to help in any way I can.
Thank you for being such an inspiration to so many of us. How can our department be of support?
Everyone has already been so generous and supportive! I would say that continuing to spread awareness about DBA, gene therapy research, and Friends of Oliver would be amazing ways to continue supporting our mission. Additionally, donating blood and registering to be a bone marrow donor with Be The Match are also fantastic things to do—you never know whose life you may save!
Anything else you'd like to share?
I'd just like to share our website, www.friendsofoliver.com. It has more information about DBA and ongoing research if anyone is interested in learning more. Also, stay tuned for another fundraising event closer to the holidays—we would love for everyone to come!