For many, the highlight of the Cupcake Tea at Philadelphia's Rittenhouse Hotel was the chance to honor Boston Children's Hospital's Dr. Alessandra Biffi for her pioneering work in gene therapy. The families who were helped by Dr. Biffi's research offered the most moving tributes. Amy Price and Becky Vivian provided a powerful human account of what this research has meant to children and families across the globe
Excerpt from a letter by Amy Price, mother of Liviana, Giovanni and Cecelia Price.
In December of 2010, we went from being a normal family with four young children, excited for Christmas, to receiving a terminal diagnosis of metachromatic leukodystrophy for two of our children. Three weeks later, walking away from our jobs and our home, we were on a plane headed to Milan, Italy with 4 young children, all 6 and under, a babysitter, and all the faith and hope in our hearts that we would find a miracle.
We knew going to Italy that our beautiful daughter Liviana, who was about to turn 3, was not going to eligible for treatment. She had already progressed too far with the disease, which is what led us to the diagnosis of her baby brother,Giovanni, who was just getting ready to turn 1.
I will never forget the first afternoon Dr. Biffi spent in casual observation of Giovanni and Liviana. I was an anxious mother...dropped in a foreign country, in a hospital vastly different from what I was used to facing a clinical trial with just one previous child treated. We were forced to be led by faith and trust in this team of medical professionals we had just met.
As Liviana played on the floor, holding herself up, as she had been losing her balance more and more, Dr Biffi got down on the floor next to her. This was not something I was used to seeing. Doctors usually remain somewhat detached. Dr. Biffi handed Liviana toys, talked to her and commented on how beautiful she was. I remember the pause, before Dr Biffi looked at me and said, with such compassion in her voice, "it is so hard knowing I cannot do anything for her also." Tears began to fill my eyes.... I looked at Dr Biffi, and realized that she felt that, just as I did, as Liviana and Giovanni's mother. I did not see a scientist, a doctor, a clinical trial leader, I saw a woman filled with compassion and love for these children, and for doing all she can, to insure, that she never had to regret not being able to do all she could.
That compassion, combined with her vast knowledge and years of research, is what the medical world needs to continue the fight against MLD. Giovanni is now 6 years old. He was the second child Dr Biffi treated with gene therapy for MLD. He is an active, healthy, singing, dancing, running, playing 6 year old. His best friend, Liviana, lost her battle with MLD on September 26, 2013. Liviana's diagnosis saved her brother Giovanni, and Dr Biffi saved Giovanni. The light, the love, the joy, passion and fight I always saw in Liviana, was also found in Milan, in Dr Biffi and her team. Dr. Biffi has now left her own country and come to ours, where we are filled with hope, that her work, combined with newborn screening, can save other parents from having to watch the devastating effects of this disease, steal their children from them. Our lives are settled and yet unsettled. We are forever changed, forever missing our Liviana, and forever wondering what we can do to help others fight MLD.
The miracle we were looking for...we found that at the end of that plane ride. It was found in Dr Biffi and her knowledge, compassion and fight, that we are determined to see continue.
Then Becky Vivian presented Dr. Biffi with an award from the Calliope Joy Foundation and read the official citation.
I am here to present this award because of what she has done for my family and other families just like mine all over the world.
MLD is a terrible disease, and I am a warrior and my children are warriors fighting this disease each and every day. But, if the children were never diagnosed, I would have gone on with my life, blissfully unaware of this disease.
What makes Dr. Biffi so remarkable is that she has chosen to fight leukodystrophy. There were easier diseases to vanguish and more happy endings waiting if she was not trying to defeat this monster called MLD.
For 15 years, she has watched children affected by this disease, it’s hard to imagine what 15 years fighting this disease has meant…. but people like Dean and Teryn Suhr of the MLD Foundation surely know.
When Dr. Biffi started working on MLD, it was not a good time for gene therapy; a young man named Jesse Gelsinger had died because of the adverse reaction to the viral vector to treat a liver disease and many of the patients treated for ADA-SCID had contracted leukemia because of the treatment.
During these dark times, the government shuttered gene therapy research in the US, funding dried up and anyone who paid attention to the headlines feared gene therapy.
But, that was 17 years ago, and the people in this room, Dr. Kathy High chief among them, did not give up on the promise of gene therapy. They worked on ways to make it safer and more effective. They came to understand gene therapy’s limits and its unbelievable potential.
With Dr. Biffi’s arrival in the US, we are impatient to see what the next few years will bring. Dr. Biffi’s work has given my children back their childhoods. It is still very hard for Eli and Ella, they must go to physical therapy, see the doctors every 6 months in Italy.
But, I also know from my friends in the leukodystrophy community how blessed we are because I have seen what this disease is capable of taking from you. I am in awe of the fact that every day the kids get up and have a chance to take the bus to school, wrestle with their big brothers, and complain about what I make for dinner. I also know that the each time they take the bus to school, Ella performs in a dance recital, and Eli makes Steve and me laugh, I witness a miracle that is only possible today because of Dr. Biffi and the work she has done with Glaxo Smith Kline.
For me, watching my children’s miracle has made me so determined, so desperate to help other children and families get their chance to fight this disease. When I got back from Italy I drove down to the FDA and spoke at an open community meeting to plead with officials to cut the red tape and get gene therapy to America. The standard treatment for MLD, a bone marrow transplant, often takes the lives of the children faster than the disease, and too many people in this room have experienced that nightmare. I know that the doctors treating children with leukodystrophy here in the US are desperate to have the tools and technology only available in Italy now.
And so, as I present this award to Dr. Biffi, I want you, Dr. Biffi, to know that Eli and Ella are warriors fighting leukodystrophy right alongside with you.
I want to thank you for making Eli and Ella a part of your family.
I want to thank you for being our champion.
I want to thank you for saving my children.
I want to thank you for changing our future.