Celebrating Rare Disease Day
As the world celebrates Rare Disease Day on February 29, Jon and Renee Fleming, parents in the Ames Community School District, stand as a testament to the resilience and challenges those living with rare genetic conditions face. Among them is their daughter, Emelia Fleming, whose life has been shaped by the puzzling DHX30 mutation. Rare Disease Day serves as a poignant reminder of the unique struggles and triumphs experienced by individuals and families like the Flemings, shedding light on their journey of perseverance, advocacy, and hope in the face of the unknown.
Parenting a child with a rare disease is a journey filled with uncertainties, an uncharted territory where every step forward, or as the Flemings say, every inch forward, is accompanied by a myriad of questions. Even receiving an accurate diagnosis was difficult.
“When Emelia was six months old we were worried that she was not meeting her milestones as she couldn’t sit up by herself,” said Renee. “At nine months we began a whirlwind of doctors appointments that were a blur; neurologists, geneticists, physical therapy, specialists and repeated check-ins with her primary care physician.”
Their journey with Emelia unfolded in nine months into a labyrinth of medical revelations. The Flemings learned that Emelia had a decreased amount of white matter in her brain. In addition, hypotonia weakened her muscles and developmental milestones remained elusive. In 2018, genetic screening yielded no answers, propelling them toward a more comprehensive approach: whole exome sequencing. It was a leap into the realm of the rare, where the details of her DNA held the key. On March 19, 2019, Jon and Renee got the call that changed everything and nothing simultaneously. Emelia has a DHX30 mutation.
Amidst this uncertainty, a profound resilience emerged in the Flemings, where they confronted each obstacle with unwavering determination and an unyielding commitment to ensuring Emelia’s well-being.
“At the time a single paper had been published on DHX30 mutation in 2017, it found 12 patients with mutations on their DHX30 gene with similar impairments and disabilities,” said Jon. “Our geneticist and genetic counselor couldn’t give us any more information than the diagnosis and the paper as it was so new and considered extremely rare.”
Nevertheless, in their uncertainty, the internet became a beacon of hope, leading Jon and Renee to an extraordinary community of kindred spirits. Upon joining the DHX30 family Facebook group, they discovered a network of support. Astonishingly, Emelia was only the 28th documented case worldwide—a staggering realization that connected them to a wealth of shared experiences. Through countless hours of sifting through archived discussions, the Flemings gleaned invaluable insights from families traversing similar paths with their children.
“In September 2019, just before Emelia turned two, we were fortunate to meet 9 of the families and two researchers at the first DHX30 conference,” said Renee. “We learned so much and were so thankful to meet other kids like Emelia.”
Upon joining the parent Facebook group, their awareness expanded. By the following February, Jon and Renee were introduced to the significance of Rare Disease Day and its profound relevance to Emelia’s journey. Rare diseases, they learned, affect fewer than 200,000 individuals worldwide, with approximately three-quarters stemming from genetic mutations. Among these rarities lies the DHX30 mutation, a condition with just around 100 documented cases globally. Yet, within this seemingly uniform diagnosis lies a spectrum of individual experiences, each person affected by the mutation navigating their own unique challenges and adaptations in daily life. As they delved deeper into understanding the intricacies of Emelia’s condition, Jon and Renee came to appreciate the diversity of experiences within the rare disease community, underscoring the importance of celebrating the uniqueness of each individual like Emelia.
“Like anyone else, Emelia has her own personality, likes, and dislikes. When she decides she wants to do something she’s feisty and incredibly determined. She is fully aware of everything that’s going on around her, joyful, and can be quite devious!” said Renee. “People with physical and communication limitations can teach you so much about the world and how to enjoy it.”
Emelia grapples with significant challenges, including non-verbal communication and mobility issues due to hypotonia or low muscle tone. Despite her determination to utilize a speech device, fine motor skill limitations often frustrate her efforts. Emelia relies on a pacer (walker) at school to aid her mobility and a wheelchair for longer distances or additional support. Additionally, her high pain tolerance and communication barriers compound the complexity of addressing her health needs, often necessitating frequent doctor visits for precautionary measures. Emelia’s resilience shines through as her family navigates these hurdles alongside her, inspiring hope and perseverance in the face of adversity.
“Emelia has no words, she knows how to let us know what she wants. She is always so happy to see family and friends,” said Renee. “Her laugh is contagious and her smile makes everyone around her melt. She has grown into her own person with a strong personability just like any other 6-year-old.”
Emelia’s journey toward progress follows a unique timetable, and the Flemings hold hope for independent walking in her future. With dedicated physical, occupational, speech, and feeding therapy sessions multiple times a week, both within the Ames CSD and with the support of the AEA and at Childserve in Ames, she is surrounded by an exceptional team of providers. This collaboration ensures she receives comprehensive care tailored to her individual needs.
“In the last five years Emelia has made more progress than we ever could have imagined after receiving the bleak diagnosis. We celebrate inch stones in this family that can turn into the big milestones like when she first learned to support herself with her arms, sit up, army crawl, self-feed, traditional crawl, pull to stand, and walk supported in her walker,” said Jon.
“Find your community and lean in,” the Flemings urge other parents facing similar experiences. Accepting Emelia’s diagnosis was initially overwhelming, but the unwavering support of family, friends, neighbors, and the online community provided solace and strength. They advise openly communicating your feelings and needs, as most people genuinely want to help. Still, they may not know how unless you express your needs clearly. Sharing your journey and seeking support can lighten the burden and pave the way for a smoother path forward.
Today, Emelia is a kindergartener at Edwards Elementary, where she attends with her big sister Bella. The Fleming family tries to find moments of celebration whenever Emelia achieves a goal during her therapies.
“We affectionately refer to these milestones as ‘inch-stones,’ recognizing and rejoicing in even the smallest signs of progress,” says Renee.
Both Jon and Renee admit it can be challenging to maintain this perspective when they’re with Emelia daily. However, when family or friends visit, their fresh eyes often highlight the growth they might overlook amidst the daily routine, reaffirming the significance of their continuous efforts. Along the way, Emelia always reminds them to find joy in these inch-stones. Emelia’s motivation is often fueled by her love for food, which adds a delightful twist to her accomplishments. Whether pushing her wheelchair a little farther or taking strides down the hall in her pacer, all in pursuit of a tasty treat like pudding, it’s a reminder of her determination and the joy found in these inch-stones.
There’s a stark reality regarding rare diseases – less help, fewer resources, and minimal research. Given the lack of widespread awareness and allure, garnering support for their DHX30 event for families proves challenging. In fact, it took years of fundraising to establish this group of DHX30 families as a proper non-profit driven by parents of affected children. Despite the uphill battle, they persevere, gearing up for their second conference in May, an invaluable opportunity to connect with fellow families and researchers pivotal in shaping the understanding of the disease.
To other families, Jon and Renee had this to say.
“It’s ok to ask questions if you are curious, we especially love to help other children understand. It’s also good to do your own research and start to understand that everyone has their own struggles and challenges and we are each on our journey to live our best lives. Embrace the differences that we each have.”
To learn more about Rare Disease Day visit https://www.rarediseaseday.org/.