From the BBC, [UK] Telegraph:

The Welsh parents of a girl with a terminal illness say they will fight a hospital’s decision to withhold life-saving treatment. They say doctors told them their daughter, who is on a ventilator, was at the end of her life and that a judge would have to authorize further care.

Amber Hartland, 6, has Infantile Tay-Sachs, and is almost totally paralyzed and unable to speak.

“We believe it is about money,” said Lesley Hartland, Amber’s mother. “But my father, my husband’s mother and father, they have all paid their taxes and have never used the health service. Everyone is entitled to the health service.”

“Amber has a right to life,” she said.

Hospital sources said cost was not an issue, and that the child was receiving high quality and compassionate care.

By Emily Bazelon in O the Oprah magazine:

(Newstands only; article not available on the magazine’s website.)

After her son was diagnosed with Asperger’s syndrome, Gwenyth Jackaway went on the Internet in search of other women who had used the same anonymous sperm donor. She has found seven other mothers. Among them they have eleven children and one on the way. Three have diagnoses on the autism spectrum, a rate that is about 45 times higher than the chances for the general population. Bazelon spends time with the women and documents their lives.

Is the bank that sold Donor X’s sperm at fault for failing to catch the genetic defect he appears to carry? (None of the mothers of affected children has family members with autism.) No history of the disorder showed up on the three-generation medical profile that Donor X filled out for the California Cryobank. The bank conducts DNA testing for conditions like Tay-Sachs, cystic fibrosis and sickle-cell anemia, which are primarily caused by a single mutant gene.

Autism is a different story. The disorder clearly has a hereditary component (if one identical twin has it, the odds the other will, too, are between 60 and 90 percent), “but there is not a genetic test for autism because we have not yet identified enough genes that might cause it,” says Peter Szatmari, MD, a veteran autism researcher and psychiatry professor at McMaster University in Hamilton, Ontario.

Rick Karl, left, and Bruce Steiger with their daughter, Krystie. When Karl and Steiger decided to have a child, they hired a surrogate and used a donor egg. Krystie was born with Tay-Sachs. (LA Times photo)

By William Heisel in the Los Angeles Times: A feature about a child born through egg donation and surrogacy who has Tay-Sachs disease. The woman who donated the egg did not know she was a carrier for the disease, and wasn’t tested for it. The agency that arranged the donation has not notified the other couples who received her eggs that their embryos or children may be affected or may be carriers of the disease, which is usually fatal by age five.

The number of American children born from donated eggs grows each year, raching about 6,500 in 2005, while donated sperm accounts for an estimated tens of thousands of births annually.

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.

(more…)