Woman Has Baby Using Sperm Donor—Horror at What She Discovers Months Later
A mother who welcomed a baby via a sperm donor was devastated to discover that the anonymous donor had a rare genetic mutation—one that was passed down to the woman's son.
Alicia Pfeffer, as user aliciapfeffer1, an Ohio-based hairstylist, shared on TikTok that the revelation did not come to light until after she had her son in her arms. After going through testing, 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 range of skeletal, ophthalmologic and neurologic abnormalities that often emerge during childhood," according to the National Library of Medicine.
In simpler terms, it is a genetic disorder which increases the risk of basal cell carcinoma, a type of skin cancer.
File photo: Gene editing in vitro genetic CRISPR genome engineering medical biotechnology health care concept with a fertilized human egg embryo and a group of dividing cells as a 3D illustration. (wildpixel/Getty).
Fewer than 50,000 people in the United States are known to have the condition, according to the Cleveland Clinic. However, since symptoms of the disease can be mild and go unnoticed, the actual number is probably higher. Still, Gorlin syndrome remains rare.
The disease is caused by a mutation of one of the three genes that is supposed to stop tumors from growing and is usually inherited from a biological parent.
Weighing the Risks
When donating sperm, a genetic evaluation is typically performed for a donor.
"The goal of the risk assessment is to try to reduce the risk for significant medical problems in the donor's offspring," says California Cryobank, though the medical center does emphasize that everyone has a 3-to-4 percent chance of having a child with a birth defect.
In Pfeffer's case, the donor's genetic mutation was not caught before the donation was made, allowing the process to proceed.
The mom also clarified in the comments that in the case of extremely rare mutations such as Gorlin Syndrome, tests are not always performed.
On TikTok, some commentators praised the donor for coming forward after finding out about the mutation themselves.
"A donor actually reporting to the agency is unusual and more responsible than most. Hope things go well for him," a sympathizer wrote, recognizing that the donor is facing Gorlin Syndrome, as well.
Other commenters shared their own stories of thriving with the disease.
"First time Gorlin syndrome has ever popped up on my [For You Page]," an individual noted, adding, "Found out my husband and his family have it after genetic testing on our kids. They are all thriving and surviving."
Pfeffer's case is rare, as is the disease that her son is now facing, but her story spotlights both a condition and an experience that is not often talked about. Meanwhile, the family has been able to find support and community online to help them through this life-altering experience.
"My niece has Gorlin Syndrome," a popular comment began, "She's had every single symptom, skin cancer, brain cancer, fibroids in her ovaries and jaw tumors.
"She has had more surgeries than any adult I know—she's about to be 18, thriving, has a boyfriend [and] so many friends."
Newsweek has reached out to aliciapfeffer1 for comment via TikTok. We could not verify the details of the case.
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