Parents' at-home genetic screening test leads to son's rare diagnosis

When Rose and her husband welcomed their first child in 2015, they noticed he had an extra pinky on each hand. The new parents, who asked that their last name be withheld, realized that extra fingers did not run on either side of their family and began to worry.

“Our family joke is, you count to make sure you have enough fingers -- not if they have extra,” Rose, 34, told FoxNews.com.

While doctors reassured her that her son was otherwise healthy and that the fingers were a cosmetic issue, Rose turned to the internet in search of more information. She found a Wikipedia article that identified five different syndromes in which a symptom could be extra fingers. The information raised a red flag for Rose and her husband— who chose not to disclose his name— but because their son remained asymptomatic, they took the doctor’s word for it.

Less than a year later, the family had a consultation with a hand surgeon, and Rose asked if their son could have a genetic test done to rule out the five syndromes she had read about. The doctor examined her son’s pectoral muscles and a few other points and said he didn’t think it was necessary, but would put in a request to the genetics department. The request was denied.

“They said ‘No, it’s not customary to have genetic testing unless there are signs of a symptom,” but I’m thinking, what if the symptoms aren’t apparent yet, they’re internal, or they come later in life?” Rose said.

She started obsessing over the symptoms, and felt there were a few that could easily be overlooked. Rather than be turned away by another doctor, Rose found JScreen, an at-home genetic screening kit that tests the parents to determine if they’re carriers for any disorders.

How it works

JScreen was created in association with Emory University School of Medicine by a couple of Jewish heritage in Atlanta, who had a child with a devastating metabolic disorder. Because of the increased risk for certain disorders that Jewish partners face, the couple underwent genetic testing but were not screened for the same amount of mutations, so their child’s diagnosis came as a shock. They created JScreen for couples of all ethnicities and religions that are planning to begin or expand their family.

A JScreen test is conducted at home using a saliva sample from both partners, which is then mailed to a certified laboratory with results returned within four weeks. A genetic counselor from Emory informs the couple of their results, and if they are identified as carriers for any of the 100 genetic diseases that the test can detect, they must participate in a genetic counseling follow-up appointment either via phone or video chat.

“If we learn that a person is a carrier for a genetic disease, we’re going to explain what that disease is, what that would mean if that person would have a child with that genetic disease,” Karen Grinzaid, a genetic counselor with Emory’s Gene Screen Program and senior director of JScreen, told FoxNews.com. “What we need to remember from this testing is a majority of these diseases are recessive – both parents would have to carry a mutation for these diseases— the majority of the time that does not happen.”

"As soon as we found out we were carriers we thought, 'OK, our son probably has that.'"

— Rose

JScreen provides couples with information ahead of conception, Grinzaid noted, which can help them plan accordingly or seek other options including in vitro fertilization or egg or sperm donation. If two partners are both found to be carriers of a genetic mutation, they carry a 25 percent risk of passing it on to their biological child. The genetic counselor provides information on alternative conception options and can help them consult a physician. Grinzaid added that for the majority of disease genes on the JScreen test, the carrier detection rate is greater than 95 percent.

While it’s often believed that only couples who have a family history of genetic disease or disorders should consider testing, in many cases it’s the opposite, like with Rose and her family, Grinzaid said.

“Eighty percent of the time a baby is born with a genetic disease; they’re born to parents that have no family history of that disease. Maybe a person is reassured by their family history, but that doesn’t mean that it can’t happen,” she said.

A long-awaited answer

Rose and her husband ordered the test and within weeks found out they were both carriers of Bardet-Biedl syndrome (BBS), a genetic disorder that affects many parts of the body with symptoms varying among affected individuals. Neither had a history of it in their family.

“As soon as we found out we were carriers we thought, ‘OK, our son probably has that,’” Rose said. “We were able to use our results to get him genetically tested.”

Rose and her husband presented the JScreen results to their son’s doctor and asked again to have him tested. It would be another two months before the family would receive a confirmed diagnosis of BBS. Though the two-month waiting period was stressful, Rose’s son likely would have gone undiagnosed for a number of years, as a clinical diagnosis is only made when patients present four of the main symptoms, or three major and two minor symptoms.

The major clinical symptoms include retinal degeneration, obesity, polydactyly-type limb abnormalities, hypogonadism and genital anomalies, cognitive impairment and renal abnormalities. Minor features include speech delay, developmental delay, diabetes, mellitus, dental anomalies, congenital heart disease, brachydactyly/syndactyly, ataxia/poor coordination, deafness and anosmia/hyposmia.

Because their son is so young, he has only presented the extra fingers and kidney issues. The family won’t know if he is affected by obesity until he’s older, and hypogonadism wouldn’t present itself until puberty. Vision loss typically begins affecting patients around age 8.

“We don’t know how horrible things are yet – so right now they did an ultrasound on his kidneys, bladder and liver, and also an echocardiogram on his heart – so far everything is normal except for his kidneys, we’re having further testing done to find out how bad it is,” Rose said.

Rose is hopeful that because they received the diagnosis early, they will be able to get ahead of any other complications their son may face. They plan to remove the extra fingers, practice early intervention for any intellectual disabilities he may develop, tackle obesity with diet and exercise, and take steps to address his kidney issues.

“It varies a lot, there’s people who are completely normal – graduated college and are accountants, and then there’s some who do have speech delays, or learning disabilities, which could just be because of the vision loss, too,” she said.

Dr. Evelyn Karson, an OB-GYN and geneticist and JScreen consultant spoke with Rose and her husband after they received their results. She acknowledged that as an obstetrician she has seen hundreds of children born with an extra pinky and always asks the parents if there is a family history of the condition, because it is not always a tell-tale sign that something may be wrong.

“Most physicians who would treat a child with extra fingers probably would not think about [BBS] unless the child was otherwise sick or had some other physical characteristic of that condition,” Karson told FoxNews.com. “This little guy didn’t have anything else externally and was meeting the milestones, growing, with no abnormalities.”

Karson also added that the accessibility of JScreen offers the technology a chance to reach couples outside of larger cities. The cost of the test is $149 with private insurance, and there is financial assistance available for others, making it more affordable than traditional procedures, the company claims.

While Rose and her husband sought JScreen as a means for answers, Karson said that typically isn’t the norm, but believes the information is imperative to have for any parent-to-be.

“When should you get tested? When you’re thinking about having unprotected sex,” Karson said. “That’s my bottom line.”