Edie Gilger's Story: Hereditary Neuroblastoma Research

After spending most of her life being treated for neuroblastoma, it seemed that 18-month-old Edie had run out of options. Her family turned to The Children's Hospital of Philadelphia for help. Edie was one of 27 neuroblastoma patients enrolled on the Children's Oncology Group phase 1 trial of an ALK-inhibitor called crizotinib, led by Yael Mossé, MD.


Edie Gilger's Story: Hereditary Neuroblastoma Research

Emily Gilger, Mother: It was about Thanksgiving time of 2009, so she was 5 months old. And she started getting real bad upset stomachs,trouble going to the bathroom,real fussy all the time. And I kept taking her back to the pediatrician, telling them that I thought that something was not right. That she just wasn't comfortable, she had gone from sleeping 12 hours at night to waking up every hour, screaming, crying, she turned jaundice. And so we took her back to the pediatrician and they sort of went into panic mode. We went to Charlottesville the next day when they discovered that there was a tumor in her abdomen. She was diagnosed with neuroblastoma and it was December 14 of 2009. So the standard treatment was we started with initially eight rounds of chemotherapy. And after each two rounds, Edie was scanned again and it was after the ten rounds that they were finally able to go in and just sort of chipping away at pieces of the tumor.

Nick Gilger, Father: It was a long process, a very long process. The chemotherapy, the surgeries, it was kind of touch ­and­ go at the beginning. She went through 12 rounds of chemo, had four major surgeries, and after all that we had found out the cancer had come back. That's when we were introduced to The Children's Hospital of Philadelphia and Dr. Mossé.

Yaël P. Mossé, MD: When I first met Edie she had no hair. She had a feeding tube because she couldn't eat using her mouth. She had developed an aversion to food. She was needing blood transfusions as a result of the chemotherapy that she'd gotten.

Emily Gilger, Mother: We didn't know what other options were out there for us and thankfully we had Dr. Mosse who stepped in at that point and recommended that Edie have some additional testing done to see if they could get to the bottom of why this kept coming back in the same exact spot. It was a blood test to test for a gene called the ALK gene that they have traced back to neuroblastoma in children this young age. And Edie was given the blood test and her blood test had come back positive.

Yaël P. Mossé, MD: We have been focused on the rare families where neuroblastoma is inherited, knowing from other diseases like breast cancer that these families can teach us about what drives the cancer. And in 2008, we made the discovery that these families all have abnormalities in the DNA of this gene we now call ALK, which stands for anaplastic lymphoma kinase. It's a gene that when it's turned on, it allows the tumor to grow. And so fortunate for us, it allows us the opportunity to think of ways to turn it off.

Nick Gilger, Father: Dr. Mosse has found this link and medicine that can help turn this ALK gene off.

Emily Gilger, Mother: They obviously, you know, felt that it was ­­ it could be the answer for Edie. Then we, you know, took a leap of faith and said let's try it. She did really well and surprisingly so when we came to be scanned at the beginning of November the cancer was gone. So she was diagnosed cancer­-free in November of 2011. So this has been the longest time that she has been cancer­-free since she was diagnosed in December of '09.

Yaël P. Mossé, MD: And now here she is after six months of treatment on this drug and she has a full head of beautiful blonde hair, she's got a fantastic personality. We took her feeding tube out. And she is just a completely normal healthy-­appearing toddler who's dancing and singing and causing lots of trouble and it is very rewarding. It gives a lot of hope.

Topics Covered: Hereditary Neuroblastoma

Related Centers and Programs: Cancer Center