“Our family owes everything to St. Jude. There is no doubt that if it weren’t for St. Jude, we would have buried our kids by now. No doubt.”
By Clay MeredithIn 1996, my wife, Suzan, and I received a phone call that took our breath away.
“We’ve reviewed your children’s medical records,” the doctor told us, “and there’s really nothing more that we can do. Just enjoy the time you have left with your kids.”
How could this be happening? We were an average family, living paycheck to paycheck in middle-class America. But our infant son, Mitchell, had life-threatening breathing problems; our 6-year-old daughter, Alee, had partial paralysis as a result of a stroke.
There was no doubt in my mind that we were going to bury these two kids, and in short order. I don’t think “panic” can even hold a candle to where we were in our thought process. We were living a nightmare.
I sat down at the desk of a family member who is a funeral director.
“I don’t have the money right now,” I told him, “But if you will allow me to bury these kids with dignity, I’ll pay you every nickel I owe you.”
Shortly after my wife had given birth to our second child, things had begun to go terribly wrong. Almost overnight, we went from being a normal family to watching both of our children almost die. We had been in and out of hospitals for many months, and the children had been given a long list of diagnoses—from asthma to lactose intolerance to a rare genetic disorder. But no one, not even the best specialists, could tell us what was making our kids so sick.
We had two sick babies and really didn’t have an answer about what was going on.
When Mitchell was 6 months old, we finally got that answer: Our children had been born with the human immunodeficiency virus, or HIV. We were devastated. In 1996, my wife and I knew nothing about HIV—only that it was a death sentence.
Like most people who contract HIV, my wife had carried the virus for many years without knowing it. Ten years before, her fiancé had died. We now realized that he most likely had AIDS.
Alee and Mitchell were put on a regimen of medicines. Two weeks later, our daughter had a stroke. Mitchell had the worst case of HIV that our local medical community had ever encountered.
The doctors offered us no hope.
“You’re telling us to watch these kids die?” I asked them. I was determined that we would not let that happen without first exploring every avenue.
So that started my quest. I got on the phone and started calling HIV clinics from Washington, D.C., to San Francisco. I don’t know the exact number of phone calls I made, but it was in the hundreds. Time after time, people suggested that we take our children to an institution in Tennessee, called St. Jude Children’s Research Hospital.
“That’s where I would go if I were in your shoes,” said a doctor from Houston, Texas. “That’s where I’d take my kids.”
“We put our two little broken babies in the back seat of our ratty old Escort, and with a prayer and a few dollars in our pocket, we headed to Memphis. That was the beginning of new life, new hope.”
As soon as we got the referral to St. Jude, we put our two little broken babies in the back seat of our ratty old Escort, and with a prayer and a few dollars in our pocket, we headed to Memphis.
That was the beginning of new life, new hope.
From the moment we pulled into the gate, the staff at St. Jude started taking care of us. They answered our questions. They knew instantly what the course of action should be for our children. Dr. Patricia Flynn and her staff got the kids started on their treatments, and then we loaded up our babies and headed back home.
I didn’t know it then, but the miracle was in place and was starting to happen. All of the treatment we had received before coming to St. Jude had been a failure, so we didn’t really know what to expect. But within a week or two, our kids’ eyes were bright, their appetite had picked up, and things had begun to change.
Those changes began to instill hope, because we started seeing our children returning to us. A month later, a St. Jude checkup revealed that the treatment was working very well. At the following checkup, the news was even better.
As time went by, we felt blessed and wanted to give back by sponsoring a child who was HIV positive. One day, Suzan found the website of an orphanage for HIV-positive children. On that site was a video of a 3-year-old Ethiopian boy singing “If You’re Happy and You Know It.” Watching that video, we both began bawling like babies. Instead of sponsoring the little boy, we initiated the adoption process.
Thirteen months later, we brought Yonas home.
Through the years, the St. Jude medical team has kept our family on the right track medically. And our social worker, Chris Sinnock, has helped guide Alee and Mitchell through issues of disclosure they faced as they entered their teen years.
Thanks to St. Jude, all three of our children are thriving. Alee recently graduated from college and will soon be teaching English and working on her master’s degree. Mitchell is a high school senior who plans to become a pharmacist. Yonas is now in the sixth grade. Who knows what he will do?
Our family owes everything to St. Jude. There is no doubt that if it weren’t for St. Jude, we would have buried our kids by now. No doubt.
If I could meet the people who donate to the hospital, I would say, “Thank you.” And if those donors would form a line, I would hug each and every one of them. People who support St. Jude give hope to families who have no hope; they give a chance to children who have no chance. And due to that overwhelming generosity, parents like us get our kids back.
Abridged from St. Jude Promise magazine, 2014
Survival rates for childhood cancer of 80 percent are great, but with support from you and others like you, we’re working to drive it to 90% by 2020.
How do your donations help?
How is St. Jude making a difference for sick children?
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To fundraise at your work, you may visit www.StJudeAtWork.org
5 years old
Ethan was found to suffer from pineoblastoma in June 2012.
ETHAN’S ST. JUDE STORY:
These days, when Ethan’s mom cues up her Zumba workout in the living room, she soon fi nds that she’s not dancing alone. Ethan, her 5-year-old son, has appeared right next to her in front of the TV screen. He loves learning and repeating the dance steps, he loves the music and he loves his mom. As his mom looks down at Ethan happily stamping and sliding his little feet, she is grateful for many things. But her heart swells with gratitude for two blessings in particular: St. Jude Children’s Research Hospital and mother’s intuition.
When Ethan was 3 years old, he began vomiting, became lethargic and lost interest in food and play. Doctors chalked it up to allergies or possibly a virus. But when his symptoms failed to subside, his mother, a nurse, took him to the emergency room. There, doctors theorized that Ethan was having migraines.
“When we left the ER, I was in tears,” Ethan’s mom remembers. “I knew in my heart that something wasn’t right. I knew it was something else, that it was serious.”
At her insistence, Ethan’s pediatrician sent him to the local children’s hospital. That’s where a CT scan revealed that Ethan suffered from a rare and dangerous brain tumor known as pineoblastoma.
Ethan was slated for brain surgery. But prior to that date, “people just kept telling us about St. Jude, and St. Jude kept coming up,” recalls his mom.
She didn’t yet know that St. Jude has the largest pediatric brain tumor research program in the country and the world’s best survival rates. She just knew St. Jude was where Ethan needed to be.
At St. Jude, Ethan first underwent chemotherapy to shrink the cancerous tumor in his brain, then surgery to remove the tumor, followed by radiation therapy and more chemotherapy.
Ethan is now cancer-free and returns to St. Jude every three months for checkups.
The lifesaving interventions were hard on Ethan’s body. He was often fatigued and didn’t want to eat. Receiving physical, speech, and occupational therapies at St. Jude helped Ethan recover.
Now, Ethan shows off his line-dancing moves at every opportunity. He also loves to play his toy instruments and practice writing his ABCs, and he is excited about pre-kindergarten this year. And his mom loves it when he joins in on her Zumba routine, when she can bask in just how far he’s come.
Mae, 6 years old
In 2010, Mae’s family was devastated to learn that she suffered from Wilms tumor, a solid tumor of the kidney. She received treatment at a local hospital, which included surgery to remove the tumor and her left kidney, chemotherapy and radiation therapy.
But in March 2012, Mae’s cancer returned. This time, her family turned to St. Jude Children’s Research Hospital for her continuing treatment. Mae’s mother grew up in Memphis and knew about the hospital.
“St. Jude has a wealth of knowledge about this type of cancer,” said Mae’s mother. “That’s where we wanted to be.”
At St. Jude, Mae’s treatment included chemotherapy and radiation therapy. “The care at St. Jude is so comprehensive,” said her mother. “It’s so team-oriented.”
While undergoing treatment at St. Jude, Mae became friends with other patients undergoing treatment for Wilms tumor. “We didn’t have this community the first time around,” her mom said. “Mae’s St. Jude friends can be there for her in a way I can’t.”
Mae is done with treatment and now visits St. Jude for regular checkups. She looks forward to coming back to the hospital so she can see her friends and her doctors and nurses. Mae, who has two sisters, loves paper dolls, making beaded jewelry and playing with Barbies.
Recently, Mae participated in the kindergarten graduation at St. Jude. She donned a cap and gown and beamed brightly when she received her diploma. She’s looking forward to starting first grade this fall.
Scientists are mining the genetic code to better match patients and medications now and in the future.
His broad smile signals that 5-year-old Joshua “Bo” Carter is having a good day. Before beginning the family’s weekly trip to St. Jude Children’s Research Hospital where he undergoes treatment for acute lymphoblastic leukemia (ALL), Bo’s mother packed his favorite superhero action figures and a selection of small race cars. Now Bo makes the toys zoom through a hospital play area as he waits to start treatment. During the two-hour intravenous immune-system boost, Bo will pass the time by watching Tom & Jerry cartoons.
This week has been easy for Bo, who is more than halfway through an expected two-and-a-half years of cancer treatment. It has offered a break from chemotherapy that consists of vincristine and other drugs. Vincristine is part of the chemotherapy cocktail that helped St. Jude push its long-term ALL survival rates to 94 percent. The drug works by preventing or slowing the growth of cancer cells, but it can also cause severe pain.
Thanks to a multidisciplinary St. Jude research team, Bo’s doctors have new tools to help them select the best medication to manage his pain. Those tools include an automatic computer warning that appears on screen if a health care provider attempts to prescribe the drug codeine. A genetic test done shortly after Bo began cancer treatment showed that codeine would not ease his pain. The test revealed that Bo belongs to the estimated 10 percent of the population who lack the gene that makes the enzyme needed to activate codeine into the pain-reliever morphine.
Now when he receives vincristine, Bo goes home with alternate pain relievers.
“I had no clue that genes could affect whether or not a drug like codeine gave you any relief,” says Michelle, his mom. “I just know that life gets back to normal when he is feeling better, and he’s up playing and running around.”
What is pharmacogenetics?
Pharmacogenetics unites the fields of genetics and pharmacology to better understand how small differences in genes affect a person’s response to drugs. The St. Jude PG4KDS project uses pharmacogenetics as a tool to help improve medication safety and effectiveness.
The science of pharmacogenetics has made personalized medicine possible for patients like Bo. Pharmacogenetics got its start in the 1950s when investigators realized certain medicines were more likely to trigger side effects in specific ethnic groups. Scientists also showed that the side effects tended to be inherited. Pharmacogenetics shows how countless small differences in genes affect each person’s response to drugs—good, bad or indifferent.
In the 1990s, St. Jude researchers offered an important early example of pharmacogenetics’ power to improve patient care. A team led byWilliam E. Evans, PharmD, now St. Jude director and chief executive officer, linked life-threatening complications associated with an important family of cancer drugs to variations in a single gene. The gene was TPMT. It carries instructions for making an enzyme of the same name that metabolizes medicines known as thiopurines. The variations mean that as many as one in 10 patients may need a lower dose of the drugs; one in every 400 individuals needs a substantially smaller amount to avoid potentially deadly side effects.
Today, work continues to identify which of the estimated 18 million gene variations in the human population plays an important role in drug response. So far, investigators have tied differences in hundreds of genes to differences in the activity of particular drugs, including how they are metabolized and transported. St. Jude researchers are at the forefront of a national effort to develop ways to translate the research into clinical tools.
Pharmaceutical Sciences Chair Mary Relling, PharmD, discusses expansion of the PG4KDS study with James Hoffman, PharmD, the hospital’s medication outcomes and safety officer.
“There are now several medications that are so strongly affected by genetic variation; if we can test patients before they are treated with those medications, we have an opportunity to choose a better drug or a better dose of the drug right from the start. For these medicines, using genetics to inform prescribing means that therapy is safer and more effective,” says Mary Relling, PharmD, St. Jude Pharmaceutical Sciences chair. “Because these medications are used for a number of different diseases, pharmacogenetics is not just important for children with cancer.”
Advances in gene tests mean that for a few hundred dollars it is now possible to screen 225 genes for about 1,900 differences implicated in drug metabolism. The technology meets the high standards for use in the clinic, not just in the research laboratory. One gene can impact the workings of as many as 30 or 40 different drugs. The lower cost now makes it possible to test such genes early in treatment so results are available before prescribing medications. Because genetic test results are lifelong, a single test can offer prescription guidance throughout a patient’s life.
The challenge is developing a system to integrate the information into clinical care. Busy doctors need a way to use complex genetic test results for prescription decisions and to keep up with new findings.
St. Jude launched the ongoing PG4KDS study to develop solutions. Relling is the principal investigator of the study, which has enrolled more than 500 patients, including Bo, since opening in 2011. Ultimately all St. Jude patients will have a chance to join.
PG4KDS uses a blood sample to check for variations in 225 genes. Currently, results for two genes are added to a patient’s medical record. For now the remaining pharmacogenetic results are stored in a research database. Relling and her colleagues say additional genes, with rules linked to the drugs they affect, will be added to patient medical records when evidence is strong enough. Tools must also be available to help medical providers use the results to make prescribing decisions now and for years to come. Relling leads an international group, the Clinical Pharmacogenetics Implementation Consortium, which is writing rules to help expand use of pharmacogenetic testing as a tool to improve patient care.
“We want to be the bridge between research and clinical care,” explains Kristine Crews, PharmD, of Pharmaceutical Sciences.
PG4KDS is having an impact. Tools developed for the study and the hospital’s switch to electronic medical records are helping translate the genetic test results into patient care decisions. The changes include automatic computer alerts that signal a clinician to change a medication dose or pick a different drug.
“Pharmacogenetics helps us act earlier to avoid complications and, in the case of patients like Bo, ease symptoms,” says Hiroto Inaba, MD, PhD, Oncology. For Bo and his family, pharmacogenetics has not only made cancer a little easier to endure but has also raised questions about whether the same variations might influence other family members’ responses to medication.
St. Jude parents played an important role in designing PG4KDS. Because patients and parents want to understand how tests might impact their care now and in the future, they can receive test results directly as they are added to the medical record.
Parents of St. Jude patients also helped create an educational video about PG4KDS. Visitwww.stjude.org/pg4kds to watch the video.
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