[ExI] LA Times: A donor egg gives life -- and a death sentence

[PJ Manney]

I've previously written about the testing for Tay-Sachs as a positive
form reprogenetics (See?  I'm learning) and this story from today's
front page has it all: egg donation, surrogacy, gay parenthood, but a
very unhappy ending.  A young woman egg donor and surrogate was an
unknowing Tay-Sachs carrier, but she wasn't tested because she did not
reveal her background was partially French Canadian and at least one
of her offspring now suffers from this fatal disease.  The potential
fathers were not even asked the genealogical questions and one of
turned out to be a carrier as well.  And there seems to be no system
in place to contact the other families the surrogate worked with, or
prevent her from donating again if she chose to.

Because Tay-Sachs screening is one of the most extraordinary success
stories in genetic testing, the shoddy testing in the egg/sperm
donation world revealed in this story really surprised me.

PJ

http://www.latimes.com/news/science/la-me-eggs8dec08,1,2901966.story

>From the Los Angeles Times
Special report
A donor egg gives life -- and a death sentence
By William Heisel
Los Angeles Times Staff Writer

December 8, 2007

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
UC 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," Gammelgard,
now 23, says.

She believes at least four children were conceived from her eggs,
results she was proud of. In recent months, however, she got 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 raising 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 Gammelgard 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 donations, 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 may 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% chance of carrying the mutation. And these children, if they grow
up to conceive babies with other Tay-Sachs carriers, have a 25% chance
of passing along the disease.

For all Gammelgard knows, couples may have embryos made from her eggs
in storage, awaiting implantation. Others may 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, an associate
professor of demography at Georgetown University who has studied the
fertility industry. "There is no tracking system and no enforcement."

'A big family'

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

Karl, raised as a conservative Catholic, had never considered the
possibility. Over the years, Steiger convinced him that 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. "So, if we can do
this, let's go do it."

Through a gay parents group, they found an agency, Surrogate
Alternatives in Chula Vista, 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 9-year-old agency has a
website 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 egg 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'd already helped at least one other
couple conceive, through a different agency.

As a freshman, she'd noticed an ad in her college paper. "It was like
'Be an angel,' she recalled. " 'Make money for college. A family is
looking for a donor.' "

She got in touch with several agencies, fielding offers from one, then
another. "I feel like I look good on paper," she said, noting that she
was a high school valedictorian with interests in art and sports.

After examining Surrogate Alternatives' Web catalog of donors, Karl
and Steiger thought so too. 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."

Growing numbers

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 a lot of money. Karl and Steiger
estimate they spent about $250,000 on conception alone, with about 10%
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.

In recent years, some parents have alleged that inadequate screening
has led to tragic results. In 2003, a Santa Barbara family received a
confidential settlement from a Los Angeles sperm bank that allegedly
overlooked a prolific donor's family history of kidney disease. Their
daughter inherited the illness, which could cut short her life.

Even if industry guidelines are followed to the letter, rare genetic
conditions sometimes slip through. Because there is neither a tracking
system to catch problems nor a limit on how many families can use the
same donor, the effects can multiply before anyone notices.

A Michigan sperm donor unwittingly carried a rare mutation that put
his progeny at risk for leukemia and serious infection. He fathered at
least 11 children, five with the disease. The pattern was noticed and
reported in a medical journal last year -- only because of a
coincidence: The same medical specialist treated the children.

Britain does things differently. Sixteen years ago, the government
created a registry for egg and sperm donors, mostly to prevent
offspring from inadvertently marrying relatives. Included are names,
contact information and detailed personal histories. Donors and
recipients have access to the registry, as do children once they turn
18.

Britain also limits the number of families that can use a single donor.

An approach like Britain's would be a departure from the American
tradition, which relies heavily on anonymous donation with no strings
attached. But some U.S. fertility experts favor a voluntary registry
that would include disease histories and pregnancy outcomes.

"The beauty of it is that the information helps everybody," said
Andrea Braverman, a Pennsylvania psychologist who is on a task force
preparing a proposal.

"If you are having a child, you'd like to know that there were no
problems with children born from that egg donor. And if you're the
donor, when it comes time to have children of your own, it might be
nice to know there were no genetic disorders related to your donated
eggs."

Screening promised

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 may not know all the
answers, and some downplay the risks in pursuit of money. Testing,
performed by doctors, is generally 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 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 years
old: that she was mostly Scandinavian. Although she didn't say so on
her Surrogate Alternatives questionnaire, she told The Times 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.

After the initial setbacks, the couple wanted a fresh start. They
selected a new doctor, a well-known Westwood reproductive
endocrinologist named Vicken Sahakian, to handle the fertility
treatments and implantation.

"She was pure Scandinavian background, so there was no reason to test
for Tay-Sachs," Sahakian said of Gammelgard. "I still to this day wish
there was something I could have done to prevent this, but there
wasn't."

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."

Pregnancy at last

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
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.

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
Tay-Sachs in his family that he knew of. The 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.

The couple resolved to make sure it didn't happen again, at least with
this donor. The problem was in getting everyone down the line to
communicate and cooperate.

Steiger and Karl knew little more than Gammelgard's birth date and
first name. So they asked Surrogate Alternatives to tell Gammelgard
what had happened and arrange for a genetic test.

They wanted to determine the mutation she carried, in hopes of helping
Krystie. This would also confirm that Gammelgard was the donor.

Surrogate Alternatives' owner said she reached Gammelgard once and
asked her to be tested but said she was unable to contact her again to
follow up. "Her phone number has changed," owner Diane Van De
Voort-Perez told The Times.

The newspaper found Gammelgard in the San Francisco Bay Area by using
public records and Internet message boards. She contradicted Van De
Voort-Perez's account, saying she has had the same cellphone number
since college and was in continual e-mail contact with Surrogate
Alternatives in the months after Krystie's diagnosis. Several e-mails
she provided appeared to support her assertion.

She said she gladly would have been tested if Surrogate Alternatives
had arranged for it and paid the costs in advance.

The agency wanted Gammelgard to do the legwork and then ask for
reimbursement, according to her account, which is supported by e-mails
she furnished.

"That just pissed me off," Gammelgard said. "I said, 'Look, this is
not my fault.' "

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.

Sahakian said he treated one of the other women who conceived using
Gammelgard's eggs but gave conflicting accounts of what transpired.

In an initial interview, he told The Times that he had not warned the
woman about the Tay-Sachs risk. He also said he had treated the woman
before Krystie's conception, citing that successful birth as a reason
why he thought Gammelgard was a safe choice as a donor for Karl and
Steiger.

Asked for details weeks later, he said he had been mistaken: He had
treated the woman after Krystie's conception. Once he knew about
Krystie's Tay-Sachs mutation, he said, he had warned the woman about
the risk.

The woman's baby is healthy, he said, although he would not say
whether the baby had been tested for the Tay-Sachs mutation.

"I can't go out and tell every agency in the country to watch out for
this donor," Sahakian said. "I would be totally breaking the law
because I would be revealing her [Gammelgard's] private information.

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

Gammelgard said she 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.

"I kind of washed my hands of it," she said, "and walked away."

A fragile child

Krystie is now nearly 2, still fragile after an experimental stem cell
transplant aimed at prolonging her life.

She was recently fitted with foot braces, in case she is ever able to
walk. Mostly, she sleeps.

"Knowing what this disease is and what it does to kids, it's beyond my
understanding how someone can play the dice by not telling other
parents," said Dr. Lawrence Charnas, a neurologist treating Krystie at
the University of Minnesota Children's Hospital in Fairview, Minn.

Steiger and Karl have all but moved from their Rancho Mirage home to
be near the hospital. Their careers are mostly on hold.

They keep a blog, detailing Krystie's hemoglobin levels, her steroid
regimen, her days of vomiting and pain, her nights of crankiness and
crying. They rejoice over small improvements, grateful she is still
alive.

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."

william.heisel at latimes.com

Times editorial assistant Nardine Saad contributed to this report.