Bloomfield family holding fundraiser event at Fairgrounds Saturday

The Page family of Bloomfield will hold a fundraising event for the Beck-Fahrner Syndrome Foundation on Saturday, August 31 from 10 a.m. to 2 p.m. at the Greene County Community Event Center at the Greene County Fairgrounds.

The event will include a 5K walk/run around the gravel pathway at 10 a.m.. Traditional timing methods will be used.

There is a $20 registration fee for the 5K and participants are asked to register starting at 8:30 a.m..

In addition to the 5K, there will be a raffle, silent auction, bake sale, cornhole, face painting, food and a presentation about Beck-Fahrner Syndrome.

“This Foundation is so important to me because my son, Zack, who is 23, was diagnosed with Beck-Fahrner Syndrome in 2020,” said Bloomfield resident Ashley Page. “It is a rare genetic disorder that was just discovered in 2020. We spent over 17 years searching for a diagnosis. When Zack was three, he wasn’t talking, he had microcephaly, and he was delayed in a lot of areas. His doctor sent us to Genetics at Riley Hospital for Children. There we were told he had a genetic syndrome, but they didn’t know what one. He was considered undiagnosed. From then on, over the years, he was in speech, physical, and occupational therapy in school and outside of school. He saw a geneticist, a neurologist and a developmental pediatrician as well. He had MRIs, EKGs, EEGs, bone scans and tons of genetic testing.

We were told by his doctors that we had a small chance of ever finding out and we would probably never get a diagnosis. My husband and I vowed the day we found out about Zack having a genetic syndrome that we would never give up searching. I was the mom who would research different syndromes to see if he would fit the criteria and call his doctor to see if it was worth testing. It was hard to get a negative result every time. It felt like we were always back at square one. We had to wait for technology to catch up. We had to wait on new genetic testing. Sometimes we went a couple of years in between testing.”

Page said it was scary to live in the unknown, not knowing what to expect or how best to care for her child.

“We had to take each day as it came,” she said, “not knowing what syndrome he had meant we didn’t know what health issues could arise.”

In 2016, Zack had the whole exome sequencing done. At the time, nothing came of it, so the family had no choice but to wait.

Then, in July of 2020, Page got a phone call from Zack’s genetic counselor, saying that they thought they had found something of significance from when they did the whole exome sequencing in 2016, but they had to go back and re-analyze his DNA.

“In November of 2020, at his neurology appointment, we got the diagnosis,” Page said. “Beck-Fahrner Syndrome. After 17 years of searching for a diagnosis, we finally had answers. At the time of Zack’s diagnosis, there were only 11 others in the world with this syndrome. To date, there are now 60 individuals diagnosed with Beck-Fahrner Syndrome.”

Due to the discovery of the disease in 2020, little information existed on it. Scientists still have a lot to learn about it.

Beck-Fahrner syndrome was first identified in 2020 and is characterized by global developmental delay and/or intellectual disability with mild to severe intellectual impairment. Affected individuals often have behavioral manifestations, such as autistic features, anxiety, or attention deficit-hyperactivity disorder (ADHD). Most patients have hypotonia (low muscle tone) and distinctive facial features. Some may have seizures and other movement disorders, joint hypermobility, poor feeding and growth abnormalities, including overgrowth or poor growth.

As of 2021, there are only around 50 individuals in the world who have been genetically diagnosed with Beck-Fahrner syndrome. It is highly likely that many individuals with Beck-Fahrner syndrome remain undiagnosed or are misdiagnosed with other disorders. There is no cure for Beck-Fahrner syndrome. However, a diagnosis allows for appropriate monitoring and treatment of associated symptoms.

“In 2022, I came across the Beck-Fahrner Syndrome Foundation, and the Facebook group,” Page said. “I knew right away that I wanted to help in any way possible. I contacted the founder of the foundation and joined the Board. I want to do whatever I can to help our Beck-Fahrner families and raise awareness of Beck-Fahrner Syndrome. Being a part of the Beck-Fahrner community has been such a blessing,” Page related.

Page said the money raised at the fundraiser will go towards research, a travel grant for our Beck-Fahrner families that help with travel expenses for research opportunities, and a “care package” program in which children hospitalized with the disease receive a “care package” designed to bring them comfort.

“We were so fortunate to get to meet Dr. Fahrner at Johns Hopkins in Baltimore, Maryland this summer. To be able to be a part of the research and help other families is amazing,” Page added,

For more information, visit www.beck-fahrner-syndrome-fundraiser-and-5k.my.canva.site/, www.beckfahrner.org or email Ashley Page at ashley@beckfahrner.org.