Bloomfield family holds fundraiser and raises awareness of newly-identified genetic disorder

The Page family of Bloomfield. From left, in back, Josh, Cameron, Kiersten (in front of Cameron) and Zack. Foreground, Ashley Page.

Courtesy photo

The Page family of Bloomfield and the foundation held a fundraising and awareness-raising 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.

“It was a great day, raising awareness about Beck-Fahrner Syndrome,” said Ashley Page. “I gave a presentation in which I talked about what Beck-Fahrner Syndrome is and the different programs our Foundation is raising money for. I shared our journey with our son, Zack, who is 23 and I had a video from one of our Beck-Fahrner families from Australia, where they shared their journey of their daughter having Beck-Fahrner Syndrome. I also shared pictures of some of our Beck-Fahrner children. We are so blessed to have the greatest support. I wanted the day to be fun while raising awareness about Beck-Fahrner Syndrome. We had a family stop because they saw the signs out front and I got to share with them about Beck-Fahrner Syndrome. That right there, just being able to share with them means everything.”

As of 2021, there are only around 60 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.

“We spent over 17 years searching for a diagnosis,” said Ashley Page. “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 which 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.”

The years went on, the testing continued and the family never gave up hope.

“It was hard to get a negative result every time (Zack was tested),” Page said. “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.”

Zack Page of Bloomfield.

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, Page 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.”

“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 $2,800 raised at the fundraiser will go towards research, a travel grant for Beck-Fahrner families that will 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 (one of the researchers who identified the syndrome) at Johns Hopkins in Baltimore, Maryland this summer,” she added. “To be able to be a part of the research and help other families is amazing,”

According to the National Institutes of Health Center for Biotechnology Information, the genetic mutation responsible for Beck-Fahrner syndrome (BEFAHRS) is at TET3, or 2p 13.1 and causes developmental disorders characterized by global developmental delay with variably impaired intellectual development. Affected individuals often have behavioral abnormalities, such as autistic features or attention deficit-hyperactivity disorder (ADHD) as well as learning disabilities. Most patients have hypotonia and dysmorphic facies. Some may have growth abnormalities, including overgrowth or poor growth, poor feeding and rarely, seizures. Clinical features can include abnormalities of the head or neck, the limbs, the cardiovascular system, the digestive system, the eyes, the musculoskeletal system and the nervous system as well as ear malformation.

According to the National Organization for Rare Disorders, there is currently no cure or specific guidelines for the treatment of Beck-Fahrner syndrome (BEFAHRS). Treatment is directed at improving the symptoms that the affected person has and to increase their quality of life. It is not known if people with BEFAHRS have a decreased life expectancy, but the condition is not progressive, meaning it does not get worse over time. (www.rarediseases.org/rare-diseases/beck-fahrner-syndrome/)

“The Beck-Fahrner Foundation is so important to me and to my family,” Page said. “This was my first in-person fundraiser and my goal is to have this every year.”

If you would like to donate to the Beck-Fahrner Foundation, please visit www.beckfahrner.org.

“There will be a link at the top that says ‘Donate’, or they can always email me at ashley@beckfahner.org if they have any questions.”

For more information, visit www.beckfahrner.org or email Ashley Page at ashley@beckfahrner.org.