Sarah and Marc discovered that in the Philadelphia area, even if parents realized umbilical cords were more than just waste products of childbirth, there was no easy way to donate the tissue. So they established the Mason Shaffer Foundation to change that.
This month, Temple University Hospital launched a program in collaboration with the foundation and the New Jersey Cord Blood Bank to educate expectant parents and enable them to donate in a convenient way - at no charge to them or Temple. The foundation provides the educational material, and the cord-blood bank covers the collection costs, which are offset by health insurance reimbursement for transplants.
Three years ago, Lankenau Medical Center in Wynnewood became the foundation's first cord-blood donation center.
Temple, however, is expected to help fill the desperate need for a more racially diverse cord-blood stockpile. That need was recognized by the federal Stem Cell Therapeutic and Research Act of 2005, which included funding that will help underwrite the first year of Temple's program.
Of the 3,200 babies delivered at Temple each year, 65 percent are African American, and 30 percent are Hispanic.
"Ethnically diverse groups are underrepresented as cord-blood donors and have a lower chance of finding a matched donor," said Dimitrios Mastrogiannis, Temple's director of maternal fetal medicine.
"Our biggest challenge is building diversity," echoed Roger Mrowiec, scientific director of Community Blood Services in Montvale, N.J., which runs the New Jersey Cord Blood Bank. "A Caucasian has about a 95 percent chance of finding a match. For Hispanics, that falls to 70 percent, and for African Americans, it's only 60 percent."
Mrowiec spoke at a Temple news conference where the grown-ups were happily upstaged by the foundation's eponymous poster boy. Although Mason is small for his age and blind in his left eye, his transplant cured his disease: malignant infantile osteopetrosis.
"Do you know why we're here?" his mother asked him.
"Because I got cells that fixed my bones," the precocious preschooler piped up.
Then, to her mild mortification, he used her smartphone to play his favorite song - Michael Jackson's "Beat It" - and show off the dance moves he learned from his Nintendo Wii video game.
Standard of care
The stem cells in cord blood, though not as versatile as stem cells from embryos, can spawn the whole blood and immune system, including oxygen-carrying red blood cells and disease-fighting white blood cells.
More than 80 cancers and disorders, including leukemia, can be treated with a blood stem-cell transplant.
The usual source of such stem cells is bone marrow from a donor. The National Marrow Donor Program, the country's largest network of public blood, bone marrow, and cord-blood banks, has more than 11 million prospective bone marrow donors listed in its bethematch.org registry, compared with 193,000 cord-blood units.
Not until 1988 in Paris was cord blood successfully used in a transplant. A boy with a deadly form of anemia was cured with his newborn sister's cord blood.
Umbilical cords have the disadvantage of yielding only a tiny amount of stem-cell-laden fluid. Mason was fortunate to be matched to three stored cord-blood units.
In fact, the vast majority of donated cords are rejected as too small, though they can still be used for research, Mrowiec said. (That barrier may be lifted soon; researchers are developing ways to multiply blood stem cells in the lab.)
But cord blood also has advantages over bone marrow. It is painless to collect, and less likely to cause complications if the tissue match is imperfect.
That's why cord-blood transplantation has gone from experimental to standard of care over the last decade. About 25,000 have been done worldwide, 10 times more than in 2003.
Only a small fraction of these transplants have been done through private, for-profit storage banks, which charge a collection fee of up to $2,200, plus an annual storage fee. They keep the baby's umbilical cord exclusively for him or a family member to use. The lifetime probability that an individual will use stored cord blood is about 1 in 400, a recent study found. Fewer than 30 percent of patients find a suitable match among family members.
Mason's parents and brother were not a match for him.
Paying it forward
Mason's form of malignant infantile osteopetrosis, or MIOP, is ultra-rare, afflicting an estimated 1 in 500,000 babies. It causes bones to be abnormally dense. That can interfere with bone marrow, causing recurrent infections, bleeding, anemia. The skull, meanwhile, gets too large and heavy and often presses on nerves within the head, causing vision loss, hearing loss, and facial paralysis.
Given the rarity and varied problems of MIOP, babies may be misdiagnosed until the disease has done irreparable or lethal damage.
In Mason's first five months of life, he was treated for seizures, acid reflux, a severe respiratory infection, and eye problems.
His parents rationalized that it could be worse, and that his glasses looked "cute," but they were increasingly worried. Sarah, a former oncology unit social worker, is a project manager for insurance giant UnitedHealthcare. Marc has master's degree in business administration and works for Arkema Inc., the international chemicals manufacturer.
It was Mason's abnormally large belly that prompted his pediatrician to order diagnostic tests at A.I. duPont Hospital for Children.
"First," his mother recalled, "they said it might be leukemia. Marc and I cried. The next morning, they said, 'It's not leukemia. We need to think outside the box.'
"When they told us it was MIOP, they said he would die by age 2 without treatment. But if he had a stem-cell transplant, that could kill him, too."
Indeed, destroying a baby's native blood system with high-dose chemotherapy is a risky last resort. But Mason's transplant went as smoothly as such terrifying things can go, and after 50 days in the hospital, he went home, effectively reborn.
That was also the birth of his mother's idea for promoting public cord-blood donation, and for an online support group for MIOP families worldwide.
The foundation "was born out of this absolute desperation to make sense of what Mason went though, and pay our blessings forward," Sarah said. Her reaction was not unusual. A cord-blood collection program at Magee-Womens Hospital in Pittsburgh was established by the family of the late Dan Berger, a prominent lawyer who had a stem-cell transplant for leukemia and lymphoma. The Parent's Guide to Cord Blood Foundation, which maintains an informational website, is run by Frances Verter, an astrophysicist who lost her first child to leukemia.
Verter praised the Shaffers for educating expectant parents about an altruistic option they may not know about and facilitating that option.
"They're doing a huge public service," she said.
In the three years since their foundation was launched, it has helped collect 1,700 cord-blood units, of which 226 have been banked and three used for transplant, a "very good" record, Sarah said.
"I think cord-blood collection is going to boom and take off as the research finds more diseases that can be treated," she said. "The possibilities are endless for this tissue that is normally thrown in the trash."
For an overview of cord-blood medical therapies and storage options, see parentsguidecordblood.org.
It shows how private and public cord-blood banks work and which U.S. hospitals accept donations of umbilical cords. If there is no donation site near you, you can find out how to send your baby's cord blood to a mail-in donation program.