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Extraordinary Moriah Joy

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How University of Florida researchers hope to decode a rare genetic disorder

When Tony and Amy Meacham adopted their infant daughter they added their sixth family member, and their first pink-painted bedroom to their home. The Meacham’s three sons wouldn’t stop pleading with their mom and dad for a baby sister. The deeply spiritual family all agreed that their family was, in fact, incomplete. Before Moriah Joy Meacham even came into the world she was loved by her new family and by the community that had been praying for her arrival.

At around eleven months old, however, Amy, who is a research scientist at the University of Florida (UF), began getting her little girl some needed therapies and seeking answers. “She was gagging and throwing up more than other babies and she wasn’t crawling or reaching the development milestones other babies do at her age.” After visiting multiple specialists, Moriah was diagnosed with a genetic disorder, (Xq27.3-q28 deletion). The diagnosis meant that 46 genes on her X-chromosome are missing.

Moriah’s condition has only been documented in nine other girls worldwide. The Meacham’s have connected with two of the families with children afflicted with the same disorder. “Both girls are now nine years old and share features like speech apraxia, autism, epilepsy and severe cognitive delay.” Moriah is about to turn three and, despite two years of speech and occupational therapy, is unable to speak besides the word, ‘ya,’ “which as you can imagine, has been really helpful,” says Amy. “She has recently learned to point to things she wants and knows a few words in sign language like ‘elephant’ because she’s two and really likes elephants right now.”

Little is known about the condition or longterm prognosis because there has been no research, says Amy.

“Doctors diagnosed her and gave us a paper describing possible symptoms, and that was it. No treatment… no hope. Most of the treatment for genetic deletion is based on treating symptoms that may or may not arise,” Amy explains.

Some of the afflictions of Xq27.3-q28 deletion, one of many rare genetic disorders, can be low muscle tone, sensory processing disorder, gag reflex and swallow difficulty, sucking difficulty, oral aversion, teeth grinding, drooling, chronic sinus and ear infections, autism, the inability to speak, seizures, intellectual disabilities and constipation. Some families have reported breathing issues, organ anomalies and growth problems. Within the deletion, there are underlying disorders due to missing genes known as Fragile X Syndrome and Hunter Syndrome, which is fatal in boys. “There is no long term treatment, a cure on the horizon, or drugs for Moriah or other kids liker her. Doctors must treat the symptoms as they come.” The family spends a lot of time at occupational, physical and speech therapy. Physicians can treat seizures and infections, but Amy admits that she is fearful of drug interactions and the side effects of multiple strong medications that her daughter will likely have to take all her life. “I don’t want to save her to harm her,” she says, so the family is reluctant to medicate if not absolutely necessary.

As a cancer biologist specializing in Leukemia, Amy realized that her daughter’s gene deletion left her predisposed to tumors and some of the drugs recommended for patients like Moriah seem to promote cancer. A cure based on cellular reprogramming is the best hope for Moriah and that’s what Xtraordinary Joy is working for.

OFFERING HOPE FOR RARE GENETIC DISORDERS

Amy says she knows that science can crack the code for rare genetic disorders and there is a reason to be hopeful, but she is also cautiously optimistic because she knows this fight goes beyond treating just Moriah. While investigating Moriah’s symptoms and networking with other doctors, the Meachams spoke to an alarming number of families in North Central Florida whose children also have missing pieces from their DNA and have started to form a community of families facing the same types of rare genetic disorders diagnoses and challenges. “It was surprising how many children we met locally who were going through similar struggles,” says Amy. “I feel that the research that is being done at the University of Florida will have long reaching affects for a lot of other families around the world who are facing genetic deletion and mutation.”

One case that has inspired the Meachams is that of Kristen Gray, the mother of two girls who both have neurodegenerative rare genetic disorders. The Grays started the Charlotte and Gwenyth Gray Foundation to Cure Batten Disease. Fortunately, the Gray’s story was publicized on Good Morning America, in the Chicago Tribune and in People Magazine, largely because the girls’ father is Gordon Gray, a famous Hollywood producer. Dwayne Johnson, Jennifer Garner and other stars have helped raise over six-millions dollars to fund research to find a cure for the girls’ rare genetic disorders. They estimate that ten-million dollars are needed to cure Batten the disease. The gene therapy program initiated, coordinated, and funded by the foundation resulted in an FDA-approved, first of its kind investigational gene therapy clinical trial for children with Batten CLN6 that started in 2016. Three patients in total have now been enrolled for participation and recruitment for additional patients with rare genetic disorders is ongoing.

rare genetic disorders

FUNDRAISING AT HOME

Inspired by other families facing similar diagnoses, the Meacham’s commitment to give Moriah that best life possible, and with the support of their Gainesville and church communities, the non-profit, CALS was established in 2016 to raise awareness and the money it will take to find answers and treatments for Moriah’s conditions. Through Amy’s network of professional researchers at UF and UF Health, they have established groundbreaking research that may someday cure Moriah and other children like her.

Xtraordinary Joy’s first fund raising event for rare genetic disorders, a human foosball tournament, was held last September. Because of the overwhelming success of that event, the second human foosball tournament, was held April 9th at Trinity United Methodist Church and attracted nearly 400 participants, spectators and vendors. Additionally, the group organized the inaugural Xtraordinary Joy Masquerade Ball last November and they are planning a second event this fall. Thus far, Xtraordinary Joy has donated $30,000 for research, yet so much more is still needed for data analysis and expansion.

OVERCOMING SCIENCE

University of Florida scientists are now examining the effects of gene deletion on biochemical pathways in an attempt to rescue brain circuitry with targeted therapies for rare genetic disorders. University of Florida College of Medicine, the Center for Cellular Reprogramming and the Department of Neuroscience are teaming up to gain understanding and therapies for Moriah and others with her type of deletion, and in the future, other deletions and rare disorders like hers.

The neuroscientists and cellular reprogramming specialist on this scientific team believe this work will be successful and help patients with rare genetic disorders. Beyond that, this work will establish a model of personalized medicine that will help many with rare chromosome disorders, others with autism, intellectual disability and epilepsy.

To learn more or get involved with Xtraordinary Joy, visit xtraordinaryjoy.org.