When an anonymous donor discovers a genetic disease

A donor discovers a genetic disease in the family. Half her offspring will inherit it. How can she alert them if they're anonymous?

4 minute 30 second read

When her mother died in 2005, Bess (who has asked me not to use her last name) was surprised to learn that the kidney disease that killed her was genetic. Testing soon revealed that Bess and two of her five siblings also carried the gene. Two of her four biological children tested positive for it too.

Statistically, that was unsurprising. Autosomal dominant polycystic kidney disease (PKD) is passed on to roughly half of offspring. The disease causes cysts to form in the kidneys, and over time the organs lose function. High blood pressure, aneurysms, heart valve abnormalities, and pregnancy complications can all be consequences of the disease.  

In addition to the four biological offspring she knew about and had raised, Bess was pretty sure there were others out there. In 1998, she had used IVF to conceive her last child. Over the course of three retrievals, she'd produced 67 eggs, but she had only used three of them for herself. The rest had either been used by others in an egg sharing arrangement — where recipients pay for the donor's IVF in exchange for eggs — or had been sold to other patients at the clinic. 

Bess immediately contacted the clinic to tell them about the PKD. They told her that, as far as they knew, no children had been born from her eggs. But they promised they'd pass on the health information if anyone came forward. 

"I never fully believed them," she says. "I didn't believe it was possible that there were none."   

She signed up on the Donor Sibling Registry and put herself on the genetic websites Ancestry and FamilyTreeDNA, just in case anyone was looking. Her dad and some of her kids were on 23andme.

In 2017, a young woman got in touch, looking for her biological father. Her mother had used a sperm donor, and 23andme had identified Bess's father as a biological grandfather, so the young woman was wondering if he had any sons. After some investigation, Bess realized the young woman and her two brothers had been born from her eggs. 

None of the three had been alerted about PKD. Testing would show that the young woman had inherited the gene.

Bess recently heard informally that there may also be two sets of female twins born from her eggs. So far, she has not been able to find them and alert them. And there could be others.

Bess worries that not knowing about the possibility of PKD could put these offspring at risk. Her niece for years had had what she thought were migraines. "The only reason they discovered it was an aneurysm is that after my mother died, she went and got tested," says Bess. Her niece had the aneurysm surgically treated.

Last year, Bess's sister died while waiting for a kidney donor. Her other sister had a transplant in 2012, but it was rejected, so she's currently on dialysis waiting for another match. Bess herself is in stage 2, and she has been on blood pressure medication for over a decade.

Bess is not the first gamete donor to have problems alerting donor offspring about a health concern. In 2013, a former sperm donor went public after public health authorities in Denmark decided not to contact donor offspring to tell them about a risk he may have passed on. As with Bess, there was a 50-50 chance they had inherited the condition, in his case Lynch Syndrome, which can lead to an aggressive and deadly cancer. The donor was especially outraged because, if caught, the condition could be treated. 

Many donor offspring recognize the importance of knowing their medical history. Alison Davenport, a British woman who'd been conceived with donor sperm, fought for legislative reform that would have let her know the identity of the man who had provided it. Diagnosed with leukaemia, she was hoping someone from the sperm donor's family might be a match for bone marrow. "I need this information," she said, "not just for mental closure, but to fight my cancer."  

Davenport died "while still obstructed from contacting those relatives," says Joanna Rose, who spoke about Davenport at a meeting in Geneva marking the 30th anniversary of the UN Convention on the Rights of the Child. Rose's own high court challenge helped end donor anonymity in the UK in 2005, but it was not retroactive.

In her address, Rose also spoke about Narelle Grech, a donor-conceived woman in Australia, who had spent 15 years fighting unsuccessfully for access to the donor's identity. It was not until she was diagnosed, at age 30, with stage 4 colon cancer, that the state premier intervened. Six weeks before her death, Grech and her biological father met, and she learned — "too late," says Rose — of the genetic predisposition to colon cancer on her paternal side. 

"Narelle's Law," introduced in the state of Victoria in 2016, changed that. The law went beyond ending donor anonymity prospectively, which had happened in that state in 1998, and mandated it retroactively — requiring that, even without donor consent, a donor's name and birthdate be released to offspring who ask. Grech's biological father backed the legislative change.

But many offspring do not even know they are donor-conceived, so will not ask. "Going forward, we all need to do better," says Bess. "We need to refuse anonymity in any circumstance."

Correction: Some language was altered to clarify that a sperm-provider is a donor only to the parent, not the offspring.