At nine months, most infants are learning to crawl, eat by themselves and play as they get ready to blow out their first candle.
But Shane Metzgar faces a much more daunting task: fighting for his life. The pleasant, blue-eyed baby was diagnosed last month with stage four of a rare form of childhood cancer of the muscles known as alveolar rhabdomyosarcoma, or alveolar RMS.
In just a few weeks, Shane has gone through two surgeries, three days of chemotherapy, and multiple trips to the Children’s Hospital of Philadelphia.
Despite everything, Shane’s mother, Michele, says Shane faces each day with a smile – a sign of hope and strength that helps his family get through this trying time.
“It’s crazy to look at him,” Michele Metzgar said. “You would never think he has cancer. He’s just so happy all the time; he’s playing, he’s eating.”
Before the diagnosis, Michele and her husband, Paul, a controller at a manufacturing company, were living a normal life in Philadelphia’s Fox Chase neighborhood with Shane and their two other children, Chase, 6, and Ella, 3.
That changed one day when Shane’s paternal grandmother was changing his diaper. She noticed two lumps in Shane’s groin, and the Metzgars quickly sought medical advice. Doctors initially thought it was a hernia, but after more testing was done, suspicions grew that it could be something else. The Metzgars took Shane to a general surgeon, a urologist, an infectious disease doctor, and finally, an oncologist.
Then on March 28, the family received the devastating diagnosis - Shane had an inoperable tumor spanning his pelvis to his rectum.
The news launched the couple on an “emotional roller-coaster,” said Michele Metzgar.
“You never think that it can happen to you, but when they told us we had to go to the oncology floor for that appointment, it was so difficult wrapping our heads around that,” she said. “When you get on that floor and see all these families and children, it really hits home.”
But the Metzgars are focusing on the positive with their new normal and are taking one day at a time. They let Shane’s laughter and upbeat, playful personality guide them.
“Shane gives us the strength to fight,” Michele Metzgar said. “We have been through all the motions and emotions you can when your world gets flipped upside down.”
An uncommon cancer
Michele describes Shane’s personality – both before and after treatment – as very easygoing, always laughing, and always wanting to be in the middle of everything. With his big smile, precious baby cheeks and bright eyes, he’s often called the “Gerber Baby” by both his family members and the hospital staff.
Michele says her other two children had a hard time at first but are learning to adjust to the new lifestyle. They are now getting extra care from family while Michele and Paul make hospital runs.
Shane's brother and sister have been making artwork for Shane, which has also helped them cope. And the children help their parents get through the daily struggles as well.
“Having the other two kids help tremendously; we can’t just give up and be basket cases,” Michele said. “We have these other two children that rely on us.”
Before the diagnosis, the Metzgars’ days would typically revolve around taking the kids to school, sports, and other activities. Now their schedule revolves around Shane’s treatment, which doctors have planned for the next 42 weeks. He receives chemotherapy every Wednesday, and recently finished his third week.
After Shane’s first week of treatment, his oncologist told the family he responded very well and had minimal side effects. Michele said doctors have noticed the tumor go from being hard as a rock to more “smushy.” Right now they’re hoping the tumor shrinks so there will be a chance of removing it.
“At some point – either week 12 or after – they will re-image to see if the tumor has shrunk and if it has stopped cancer cells from growing in other areas as well,” Michele said. “We want the option of surgery if the tumor in his groin area is smaller and able to be removed.”
Shane’s physicians at CHOP have declined to speak about the case, citing patient privacy. The cancer is so seldomly diagnosed that many cancer experts contacted for this article did not feel confident discussing it. The doctors quoted in this article are not involved in Shane’s care and treatment.
'A real need for funding'
But, in general, the cancer is little understood and is so rare that it affects only about 350 people per year, according to Dr. Winston W. Huh, an assistant professor at MD Anderson Children’s Cancer Hospital in Houston. Huh says the average survival rate at stage four is 20 to 30 percent for all age groups, but is generally lower for infants.
“Their survival rate is lower compared to older kids partly because it’s more difficult to do aggressive surgery,” Huh said, “and also we worry about more side effects from radiation therapy with these infants."
Huh said it’s harder to get interest in government funding for this type of cancer because it is so uncommon in comparison to other cancers such as breast, colon and lung. According to CHOP, only 4 percent of the $5.067 billion of government-funded cancer research goes to pediatric cancer. The general type of cancer Shane has - rhabdomyosarcoma - accounts for about 3 percent of all childhood cancers, according to cancer.org.
“There’s a real need for funding and research for pediatric cancers,” Huh said. “We know funding from traditional government sources – such as the National Cancer Institute – has been decreasing, so there's a great need for funding for research for new clinical drug trials for pediatric cancers, like rhabdomyosarcoma. That’s a big issue that we’re facing right now.”
Huh said only about 15 percent of all rhabdomyosarcoma cases are alveolar, making Shane’s case even rarer. He also says it’s unclear as to how many infants are diagnosed out of all the RMS patients, but estimates it’s around 10 percent.
Dr. Otis Brawley, chief medical officer for the American Cancer Society, says it’s typical to try to reduce the size of the tumor to get the pressure off the kidneys and other organs. He says treatment for alveolar RMS, which typically occurs in the trunk or arms and legs, is more difficult for someone Shane’s size.
"It's harder to put IVs in young kids because their veins are smaller, he said, “the treatment for younger kids is more difficult, dosing the drugs for young kids is more difficult, the side effects of drugs long term are going to be greater because you're talking about someone who is still developing."
The prognosis for people with rhabdomyosarcoma depends on many factors, such as the type, the location and size of the tumor, and whether the cancer has spread.
Over the last few decades, Brawley said there has been some progress made in research.
“We’ve learned over the last 20 years about genetics about rhabdomyosarcoma,” Brawley said. “There's a whole series of genetic differences between both alveolar and embryonal RMS; [there are] translocations and mutations that we understand today that were not understood years ago. Learning about genetics helps us understand what’s going on in the cells or why the cells became cancerous.”
He said one particular gene - the PAX3 gene - was discovered in the past five years to be associated with alveolar RMS. He estimates that in the next 10 years there will be better drugs that target the mutated PAX gene.
Because everything is very new in terms of the diagnosis, treatment, and doctor appointments, the Metzgars are not sure about how much their medical insurance will cover. They are still waiting to hear from their provider.
They have created a fundraising page through the crowdfunding website GiveForward.com to raise money for Shane. The Metzgars say any donations not used for Shane's treatment will be given to CHOP’s oncology department and to THON, the childhood-cancer fundraiser sponsored by Penn State, Paul's alma mater. They’ve already raised more than $20,000 from more than 200 donors.
Michele says the family has received “overwhelming support” from family and friends. Through the fundraiser, Michele says she also hopes to bring awareness to childhood cancer, as it is one of the most under-funded cancers.
As Shane gets ready to face week four of chemotherapy, the Metzgars continue to do all they can to help their baby fight his battle. Michele hopes her son’s story helps other families faced with similar situations, as she says the most important thing for any parent is to “hold on to hope and stay positive and focus on the strength their child has.”
“We've taken time to digest and even though we wake up every day wishing this nightmare would end, we move forward for Shane, Chase and Ella. We cry, have bad days, but the love and support of one another – we will be married 10 years in July – and from our friends and family help us look towards the future.”
Coincidentally, Shane will turn 1 on July 11.