A mother who gave birth to a child using a sperm donor was shocked to learn that the anonymous donor had a rare genetic mutation that was passed on to the woman's son.
Alicia Pfeffer, a hairstylist from Ohio who uses the user aliciapfeffer1, shared on TikTok that she only learned about it after holding her son. After an examination, her son was diagnosed with Gorlin syndrome.
Gorlin syndrome, also known as Gorlin-Goltz syndrome, is "an autosomal dominant familial cancer syndrome characterized by multiple basal cell carcinomas, odontogenic keratocysts, and a variety of skeletal, ophthalmologic, and neurologic abnormalities that often present in childhood," according to the National Library of Medicine.
Simply put, it is a genetic disorder that increases the risk of developing basal cell carcinoma, a type of skin cancer.
Photo from the archive: In vitro gene editing, CRISPR genetic engineering, medical biotechnology, healthcare, concept with a fertilized human egg and a group of dividing cells as a 3D illustration. (wildpixel/Getty).
According to the Cleveland Clinic, fewer than 50,000 people in the United States suffer from this condition. However, because symptoms can be mild and go unnoticed, the actual number is likely higher. Nevertheless, Gorlin syndrome remains a rare condition.
The disease is caused by a mutation in one of three genes that are supposed to prevent tumor growth and is usually inherited from a biological parent.
Weighing the risks
When donating sperm, the donor usually undergoes genetic testing.
«"The purpose of risk assessment is to try to reduce the risk of serious medical problems in the donor's offspring," the California Cryobank states, although the medical center emphasizes that each person has a 3-4 percent chance of having a child with a birth defect.
In Pfeffer's case, the donor's genetic mutation was not detected until after the donation, allowing the process to continue.
The mother also clarified in the comments that in the case of extremely rare mutations, such as Gorlin syndrome, testing is not always carried out.
On TikTok, some commenters praised the donor for revealing the mutation himself.
«"The fact that the donor actually reports to the agency is unusual and more responsible than most. I hope all goes well for him," wrote one sympathizer, acknowledging that the donor also suffers from Gorlin syndrome.
Other commenters shared their stories of how they successfully overcame the condition.
«"Gorlin syndrome has appeared on my [recommendation page] for the first time," one user noted, adding, "I found out my husband and his family have it after genetic testing our children. They are all healthy and surviving.".
Pfeffer's case is rare, as is the disease her son is currently battling, but her story illuminates both a condition and an experience rarely discussed. Meanwhile, the family found support and community online to help them navigate this life-changing event.
«"My niece has Gorlin syndrome," began one popular comment, "she had all the symptoms: skin cancer, brain cancer, ovarian fibroids, and jaw tumors.".
«"She's had more surgeries than any other adult I know - she's turning 18 soon, she's thriving, she has a boyfriend and lots of friends.".
Edition Newsweek contacted aliciapfeffer1 for comment via TikTok. We were unable to confirm the details of the case.
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