It started with a dream. Amy Meacham was sitting on her couch visiting with family. There was a baby girl on her lap. The whole room shouted, “Joy!” and broke out in applause. She was jolted awake by the dream, and she shook her husband, Anthony, to get him to wake up. “I think we are going to have a daughter,” she said.
The Meachams hadn’t planned to have another baby. They were already blessed to have their three sons, Isaac, Symian and Jude. However, the dream and their son’s persistent requests for a sister kept challenging the Meachams. They felt called to adopt a baby girl. When she arrived, Moriah Joy Meacham was an answered prayer.
However, it wasn’t without a scary realization. Moriah has a rare diagnosis that less than 20 children worldwide share. She is missing 7 million bases of DNA in 76 genes in a region of her X chromosome that causes Fragile X Syndrome associated autism, epilepsy and intellectual disability. Most rare diseases are caused by one base of one gene, so this deletion would prove to be very complex.
“When we got the genetic test, I looked up the coordinates,” Meacham said. “Having a genetics background helped me figure out all of the missing genes, which ones were important, and I realized, ‘Oh my gosh, she could get brain tumors and psychological conditions because of this. We’ve got to do something.’”
It was then that Meacham felt called to help other parents in similar situations. The Meachams started Xtraordinary JOY!, an organization dedicated to research for rare chromosome disorders. Meacham said she feels it’s her duty, as a mom with a scientific background, to help other parents understand their genetic reports.
“The more knowledge you can have, the better,” Meacham said. “Some of these reports parents send me are wrong.”
Every year, Xtraordinary JOY! hosts a masquerade ball, which is the organization’s largest fundraising event of the year. The event was held Dec. 1, and it encompassed a snowflake theme. The theme was chosen because no snowflake is exactly like another, just like children with Xq27-28 deletion are unique. In the last two years, Xtraordinary JOY! has raised $80,000, and the fundraising goal for the ball was an additional $50,000.
“As we have gotten more involved in the special-needs community, we are actually able to see where the needs are and where we can help locally,” Meacham said.
This year, Xtraordinary JOY! has launched local support efforts such as respite care programs for parents who need a break and partnerships with other local organizations that already have similar programs in place. Gigi’s Playhouse and Celebration Methodist respite are some of the transpired partnerships.
There is also a new advocacy program for genetic testing launching in January 2019. For the first time, Xtraordinary JOY! will have a booth at the special-needs expo to provide information on genetics and registries for rare conditions.
“Getting a diagnosis is often very difficult,” Meacham said. “It’s a comfort to know which genes are affected so parents can get plugged into resources and community and work to address individual concerns.” It’s part of the mission of Xtraordinary JOY!, focusing on the positive outreach rather than the negativity of the disease.
“Our community really has a lot of special-needs families that our eyes are open to now,” Meacham said. And many of these families fall through the cracks of services and community because of rare diagnosis. “We have the heart, and we want to be there doing life with them.”
“Our community really has a lot of special-needs families that our eyes are open to now,” Meacham said. And many of these families fall through the cracks of services and community because of rare diagnosis. “We have the heart, and we want to be there doing life with them.”
Sometimes, families who receive the autism diagnosis don’t search any further. They don’t realize there might be an underlying cause, which can be determined by the genetic testing, Meacham said. What a genetic diagnosis provides, though, can open a world of resources. It plugs people into different communities and builds a network and support system for each family. For instance, there are organizations like Chromosome Disorder Outreach and Unique that encourage diagnosis registration in an attempt to connect with others with similar conditions, like rare chromosome deletions, duplications and translocations. Sometimes the condition is less rare and there are already foundations and research available.
“If this is the case, we have seen this bless families so much,” Meacham said.
For Moriah’s deletion, there was no such research or community established. Therefore, the Meachams would take this on, creating a foundation, multiple research efforts, a private Facebook group for the families of Xq27-28 and even an undergraduate student organization at the University of Florida.
This year, Xtraordinary JOY! was able to bring a Texas family to Gainesville for the masquerade ball. This family, who the Meachams met via social media, has a child with a gene deletion in Xq28, like Moriah and yet very unique. Even though there is a lot of difference, they focus on the togetherness so they can Shine together, the 2018 theme of Community and focus for Xtraordinary JOY!
“Moriah is the only person in the world with her particular deletion,” Meacham said. “There are only 19 other people who even have something similar. Even then, it’s not that similar because we are talking about a difference of a million base pairs of DNA.”
That is why they are taking the foundation beyond research to a personal level. Scientific research is still a huge passion for Amy Meacham – a leukemia researcher herself – the reason why she coordinated groundbreaking efforts for numerous teams of scientists at UF. She believes the discoveries from their teams of neuroscientists and chemists will contribute to the fields of autism, cognition and epilepsy. Some of the scientists updated the masquerade ball guests with progress on this complex project.
Next up for Xtraordinary JOY! is their annual Human Foosball fundraiser held April 28th at Trinity United Methodist church, where 32 spirited corporate, school and family teams compete on three arenas for a championship prize. More information on the fundraisers can be found on their website www.xtraordinaryjoy.org.
Creating Xtraordinary JOY! has brought a whole new purpose and meaning for the Meacham family. Their sons love having a little sister, and they enjoy helping Moriah learn each day. Raising awareness has truly been a blessing, Meacham said. She wants to continue this quest for knowledge to help Moriah.
“If we don’t do this for her, then no one else will,” Meacham said.