Student research project helps family identify rare genetic disorder

When Bernie High School student Taylor Anthony decided on Fragile X syndrome as the topic for her Advanced Biology research paper last fall, she had no idea it would impact people she knew personally.

"I chose Fragile X because I wanted a subject that no one had heard of before," Anthony explained.

It was only after her research was complete and she began to prepare her class presentation, that she recognized similarities between the disorder she had studied and her best friend's cousin, Jagger Smith.

"I knew Jagger because his cousin Logan is my best friend, but I had no idea that he had FXS," Anthony recounted, still amazed at the coincidence. "I told Logan that this sounded a lot like Jagger."

Bernie High School teacher Pam Foster was also acquainted with the Smith family and knew about the family's search for an explanation for Jagger's problems.

"Offering Fragile X syndrome as a research project was the result of a larger-than-usual class-size," Foster explained. "For this project, each student much research a different chromosomal/genetic disorder."

She went on to say, "Most of the time, students choose common disorders they have heard about; however, once those topics were assigned, the remaining students had to look for subjects that are not so well known."

Foster said she offers students a variety of ways to compile their research, so they are presenting from a format that is comfortable for them. Anthony chose a slide presentation.

"I was sitting at my desk listening to Taylor present and grading her as she went along," Foster recounted. "Suddenly, I realized that what I was hearing and seeing was so much like Jagger. I couldn't believe the similarities."

Because the assignment was in slideshow format, Foster was able to immediately send the entire project to Jagger's mother and aunt.

This information proved to be the key Jagger's family had been seeking.

"A neurologist actually suspected Fragile X back in September of last year," Jagger's mother Jodi Smith said. "However, since he said it was genetic, we did not have the DNA testing done.

"I did not understand, at that time, that the gene could be carried," she went on to explain. "I was just thinking that there was no one in our family with those symptoms."

Smith said when she saw the research project Anthony had compiled, they decided to go ahead with testing.

"We had the testing done in December and received the results in January," Smith disclosed, "which verified that Jagger does indeed have Fragile X. Then both my mother and I were tested and identified as carriers."

According to the website fragilex.org, females who are premutation carriers of the Fragile X gene have a 50/50 chance of passing the gene mutation to each of their children. Males who are premutation carriers will pass the gene to all of their daughters (giving them his X chromosome) but to none of their sons, as they receive their father's Y chromosome.

In recounting their journey to the Fragile X diagnosis, Smith said there were signs of the abnormality, even before Jagger was born.

"One symptom in a carrier, is difficulty conceiving," Smith revealed. "Another is early-onset menopause."

Smith went on to say both she and her husband knew there was something different about Jagger from an early age.

"Since before he was two," Smith noted, "we suspected that there was a problem but were not sure how much of it was really medical and how much of it was just simply that he was progressing at a slower rate."

Smith said Jagger was enrolled in the First Steps program, which provides early intervention to children with disabilities or developmental issues. Smith explained when her son crawled, it was not really crawling but moving across the floor on his back. He did not walk until he was 16 months old. She adds his speech development is also delayed.

"Since Fragile X falls in the autism spectrum," Smith went on to say, "he also exhibits some of those tendencies -- failure to make eye contact, sensory issues and emotional meltdowns among others."

"Jagger turned four in March, and First Steps ends at three years of age," Smith explained, "so we have been searching for local assistance."

Smith said this summer Jagger is receiving limited services from the Kenny Rogers Children's Center in Sikeston and is on a waiting list for full-time treatment there. He also is participating in a year-long clinical trial through the Vanderbilt Fragile X Clinic at Children's Hospital in Nashville.

Smith said she is learning as much as she can about the syndrome and trying to raise awareness.

"Fragile X is not life-threatening," Smith observed, "but it is life altering. July is National Fragile X Awareness Month, and this Saturday, the 20th, I will be participating in the Walk for Fragile X in St. Louis."

Smith went on to add in support of Jagger and Fragile X Awareness Month, her neighbors are lighting their homes in teal, the color that represents Fragile X.

Additional information about Fragile X can be found at the websites mentioned and at Fragile X Resource Center of Missouri on Facebook.

Jodi Smith and her husband Glen live outside Kennett. He owns a landscaping business, and she is employed in the Gideon School District as a grade four through sixth social studies teacher. Jagger is their only child.