Code Unknown: After passing on rare genetic mutation, donor remains a mystery

PART FIVE (Read parts one, two, three and four.)

It’s like a scene out of The Hurt Locker.

A man walks down a crowded street loaded with the potential to destroy hundreds of lives.

He’s not wearing a bomb. He’s carrying a mutation in his genes that can cause the heart to beat out of rhythm and, quite often, stop. Left untreated, the disorder will kill as many as 20 percent of the people who inherit the mutation every year.

This man is a sperm donor.

He is the donor who allowed Miranda Dyer’s mother to give birth to her and her brother. They are all very grateful for that. In fact, her brother was a sort of Christmas gift, born on Dec. 24, 1978, the child his parents never thought they would have. Miranda was born two years later, on July 31, 1980.

After discovering her own genetic heart condition and finding the same condition in her son, Miranda decided that she needed to find the donor to warn him and his other potential offspring.

“He’s out there somewhere, and either he is going to die from this condition or his children are going to die,” Dyer said. “And he still might not even know that he has it. He could still be donating sperm and passing on this gene to other families to this day.”

Most sperm donors donate while in their 20s, often while they are in college. Dyer’s mother arranged for her donation through the University of Florida’s Shands Hospital in Gainsville, first in 1978 for her son and again in 1979 for Miranda. Chances are good that the donor was a University of Florida medical student, perhaps even an intern or resident, a common practice that dates back to the 1940s.

Even if the donor had been suffering symptoms – dizziness, fatigue, shortness of breath – like Miranda, he would not have known that he carried a potentially fatal genetic mutation because the mutations were still unknown in the 1970s.

It wasn’t until 1990 when Christine and Jon Seidman at Harvard Medical School and a group of researchers found the first genetic mutation linked to a heart disorder. In 1991, Mark Keating at the University of Utah published findings about the first genetic mutation that can cause long QT syndrome, the condition that Miranda and two of her children have. The syndrome can lead to Sudden Arrhythmia Death Syndrome or SADS.

Keating continued to pursue the genetic links and, by 1994, had identified three more genetic mutations that cause the syndrome. In all, there have been 14 mutations identified.

Initially, Miranda’s mother Gloria tried to track down the donor.

Distraught about her daughter’s condition and the idea that it might also be passed down to her grandchildren, Gloria wanted to turn something negative into a positive. She wanted to find the donor to warn him and the other children born as a result of his sperm donation.

But she didn’t have much to go on. She had sought help getting pregnant through the University of Florida. Gloria had been told that she was given sperm from the same donor for two pregnancies, but she did not have any information about him.

She did not have a name for the donor.

She did not have an age for the donor.

She did not even have a donor ID number, which is now commonplace with sperm donations.

Gloria contacted the physician who helped her with the procedure, Dr. Bernard Cantor. He said that he did not have any of the records anymore from the women he helped conceive in the 1970s.

“When it comes to helping people have children, the system is working, but when it comes to making sure people don’t end up with life threatening illnesses, the system is broken,” Miranda said.

So Miranda and Gloria decided if they wanted to prevent more people from developing long QT syndrome or dying from Sudden Arrhythmia Death Syndrome, they would have to piece together what little information they had: the information residing inside their own genetic codes.

To be continued.

Photo by Joel Dinda via Flickr.