Egg donor gives life — and a death sentence

The particulars of Alexandra Gammelgard's egg donations are a bit of a blur to her.

Between the ages 18 and 21, she donated to at least four infertile couples, using two, maybe three, agencies that paid her from $5,000 to $15,000 for each donation. She was trying to pay for her education at University of California, San Diego and didn't keep track of the details.

"The college years of your life go by so fast, and you do so many crazy, random things that it's hard to remember it all," said Gammelgard, now 23.

She believes at least four children were conceived from her eggs. In recent months, she received grim news: One has Tay-Sachs, a neurological disease that usually kills its victims before age 5.

A child can develop the disease only if both parents carry a relatively rare genetic mutation. Gammelgard said she had no clue she was a carrier; she hadn't been tested because she wasn't in the groups at highest risk.

She knows now. The couple rearing the sick child contacted the agency that arranged Gammelgard's egg donation. The agency told her.

But neither she nor the agency has made any effort to inform the other families who used her as a donor.

In the United States, nothing ensures that recipients of donated eggs or sperm are warned about defects later discovered in the donor's family tree. In contrast to blood donation, no one tracks donors and their products.

The system is founded largely on a pledge of confidentiality — the promise that the donor and recipients will remain strangers, linked only through third parties. Donors typically sign contracts severing parental rights and most obligations.

But genetic ties endure. When flaws in DNA slip through the screening process, they might fan out over generations, undetected until it is too late.

Even if Gammelgard's other children do not have Tay-Sachs, they have a 50 percent chance of carrying the mutation. And these children, if they grow up to conceive babies with other Tay-Sachs carriers, have a 25 percent chance of passing along the disease.

For all Gammelgard knows, couples might have embryos made from her eggs in storage, awaiting implantation. Others might have conceived children she hasn't heard about.

"It's awful that in the United States right now, the buck stops with this young lady who donated," said Elizabeth Stephen, a Georgetown University associate professor of demography who has studied the fertility industry. "There is no tracking system and no enforcement."

A chance for a family

Bruce Steiger recalls telling Rick Karl on one of their first dates: "I want to have a family — a big family."

Karl, reared as a conservative Catholic, never had considered the possibility. But something told him their well-paying jobs in the high-tech industry were going to get them only so far down the path to happiness.

"I've always considered having children to be pretty much out of the question, and that saddens me," Karl remembers telling Steiger one day in 2002 during a walk along the ocean in Long Beach, Calif. "So, if we can do this, let's go do it."

Through a gay parents group, they found an agency, Surrogate Alternatives, that specialized in finding women to provide eggs and surrogates to carry the child for a fee.

Such agencies typically are small, for-profit operations, drawing donors and surrogates through ads and clients via the Internet or word of mouth.

Operated by a surrogate mother from her home, Surrogate Alternatives is essentially a matchmaker. Although the nine-year-old agency has a Web site highlighting its links with fertility doctors, it has no medical staff. Outside doctors, recommended by the agency or chosen by the client, handle genetic testing as well as egg harvesting, fertilization and implantation. Steiger and Karl had a rough start. After they selected a donor, a surrogate and a clinic, embryos were created in the lab using the donor's eggs and both men's sperm. But two efforts to impregnate the surrogate failed. They intended to try a third time, but the donor failed a drug test. A second donor didn't work out, either.

At that point, "we wanted an egg donor and a surrogate who had a track record," said Steiger, now 42. "We didn't want to take any more chances."

Gammelgard seemed a good bet. She already had helped at least one other couple conceive, through a different agency.

She was tall, athletic and blond. She cited no serious family health problems. The couple picked her based mostly on a picture and questionnaire.

She had written: "I feel like egg donating is my gift to give to the world."

The number of American children born from donated eggs grows each year, reaching about 6,500 in 2005. Donated sperm accounts for an estimated tens of thousands of births annually. Many recipients and donors contact broker agencies with the assumption that screening and testing will be as thorough as the field of genetic science allows. After all, clients are spending plenty of money. Karl and Steiger estimate they spent about $250,000 on conception alone, with about 10 percent of that going to Surrogate Alternatives.

In reality, scrutiny of donors varies widely. Tay-Sachs testing can be done for between $100 and $250, but fertility doctors say testing everyone for every known genetic disorder would be prohibitively expensive and is unnecessary.

Testing generally is limited to certain diseases linked to known high-risk groups. In the case of Tay-Sachs, that would be Jews and French Canadians. There are no governmental regulations, only guidelines set by medical societies.

Few screening rules

Steiger said Surrogate Alternatives promised him and Karl that their egg donor would undergo a thorough screening. What they didn't know is that few rules guide this process.

Genetic screening is a loose term that encompasses everything from a few questions on paper to an in-person interview with a certified counselor trained to find inherited diseases lurking in the family tree. Even if all the right questions are asked, donors might not know all the answers, and some downplay the risks in pursuit of money. Testing, performed by doctors, generally is based on what the screening yields.

Gammelgard recalled meeting "at some point" with a genetic counselor, although she said she did not know if it was for Karl's and Steiger's case.

"You go through all the family members you can remember, where they came from, any health problems," she recalled.

She said she reported what she had been told since she was 5: that she was mostly Scandinavian. Although she didn't say so on her Surrogate Alternatives questionnaire, she told the Los Angeles Times that she had some "Irish-French-Catholic" lineage on her mother's side.

The risk of carrying a Tay-Sachs mutation for most Caucasians is about 1 in 300. It is about 10 times greater for Jews of European heritage and French Canadians, for whom medical experts recommend testing. But Gammelgard said she was a member of neither group. Irish Americans have a risk as high as 1 in 50, but testing is not recommended.

Karl and Steiger said they were not screened or tested for genetic abnormalities. They said they weren't asked.

Legally, Karl and Steiger were on notice about the risks. They signed a contract with Surrogate Alternatives stating that the baby's health was not guaranteed.

But they now believe someone — the agency or the doctor or both — dropped the ball. Gammelgard agrees.

"Why weren't we offered this test?" Steiger asked. "It would have totally prevented this from happening."

After several attempts, the surrogate hired by Karl and Steiger got pregnant in May 2005. The initial ultrasound exam showed twins.

"We were excited. After so many tries, we thought that maybe it just made sense that we would end up with two children instead of one," said Karl, now 47.

After 15 weeks, though, the surrogate miscarried one fetus. Karl and Steiger recalled that their obstetrician assured them that the other child was healthy.

So it seemed when Krystie was born in January 2006, on Karl's birthday. For the first few months, she hit all the milestones. At 10 months, though, her development stalled. She wasn't interacting as much. She couldn't crawl. She had trouble focusing her gaze.

Karl and Steiger took her to neurologists and occupational therapists, but it was an ophthalmologist who noticed the telltale cherry-red spots on her retina. Krystie was diagnosed the day before her first birthday.

Finding the carrier

The couple had intended to keep paternity a mystery. Both men's sperm was mixed with Gammelgard's eggs. When they found out Krystie was sick, though, doctors said identifying the mutation that caused the disease might help treat it.

Karl was found to be the Tay-Sachs carrier and, by inference, Krystie's father. He is of Irish-American heritage but had no known Tay-Sachs in his family. Test results suggested a mutation typical of French Canadians.

"I will always have this incredible amount of guilt because I'm the one who did this to our daughter," Karl said.

As for the other recipients of Gammelgard's eggs, Van De Voort-Perez said Surrogate Alternatives has no way of contacting them. Different agencies handled all of her other donations, she said, and her agency never asked which they were.

"The really scary thing is that nothing would stop her from donating again," Sahakian said. "She could simply go to another agency, another doctor, and not say anything about what happened."

Gammelgard said she now assumes she carries the mutation and that she is through with egg donation. But she said she is not inclined to try to contact the other agencies she worked with. She does not recall their names, she said.

Steiger and Karl have all but moved from California to be near the Minnesota hospital that is treating Krystie. They have helped launch the Cure Tay-Sachs Foundation, curetay-sachs.org, to raise money for research.

They wish they could do more.

"Those other parents have a right to know what might happen to their children or that their children might be carriers of this disease," Karl said. "But there's nothing we can do about it. We don't even know who they are."