The Roberts Family
Our Story
Harper is our sweet, joyful 8-year-old daughter who lives with multiple complex developmental, medical, and communication challenges. She has been diagnosed with Autism Spectrum Disorder Level 3 with intellectual and language impairment, global developmental delay, severe sensory processing disorder, sleep disturbance, feeding difficulties, and a speech sound disorder. Developmentally, Harper functions between 1½ to 3½ years old across communication, social, adaptive, and daily living skills. She is nonverbal, requires 24/7 supervision, and needs full hands-on assistance for every part of her day — eating, toileting, dressing, bathing, safety, and communication.
Genetic testing through the Alabama Genomic Health Initiative also identified a de novo Variant of Uncertain Significance in the KDM5A gene — meaning the change occurred by chance and was not inherited. Although the variant does not provide a definitive diagnosis, KDM5A has been linked in emerging research to autism, global developmental delay, feeding issues, sleep challenges, learning differences, hypotonia, and other neurodevelopmental concerns. Because this area of genetics is still evolving, doctors cannot predict exactly how this variant may affect Harper long-term. This adds a level of uncertainty to her future and means her needs may continue to change as she grows.
Harper also recently lost her Medicaid waiver, which previously helped support many of the services and supports she relies on. Losing this coverage has created an unexpected gap in assistance during a time when her needs remain significant and constant.
Despite these challenges, Harper is the light of our lives. She is loving, funny, curious, and resilient. She just experiences the world in a way that requires full-time guidance, protection, and support.
Your kindness, prayers, and generosity mean more than we can put into words. Thank you for helping us continue providing the care, safety, and stability Harper depends on every single day.
Family Updates
Today, we finally received something we've been searching for for almost nine years... answers.
From the very beginning, we knew there was something more. Over the years, Harper was diagnosed with autism, developmental delays, feeding difficulties, seizures, and several other medical conditions. Each diagnosis explained one piece of the puzzle, but none of them explained why all of those pieces existed together.
After years of genetic testing and waiting for research to catch up, we now know that Harper has El Hayek-Chahrour Neurodevelopmental Syndrome (NEDEHC), an incredibly rare genetic condition caused by a change in her KDM5A gene. To put into perspective just how rare this is, only 33 individuals worldwide have been described in the medical literature with this syndrome so far, and Harper is one of them. Even more incredible, Harper's exact genetic variant was included in the international research that helped scientists better understand this condition.
For our family, this diagnosis doesn't change who Harper is. She's still the same happy, determined, music-loving little girl who fills our hearts every single day. What it does change is how we move forward. For the first time, so many of the pieces fit together. We finally understand that many of the challenges Harper has faced throughout her life have all been connected.
Over the coming weeks and months, we'll be reconnecting with genetics and coordinating with several members of Harper's care team. This diagnosis gives her doctors a roadmap for what to monitor over time, allowing them to watch for conditions associated with this syndrome, recommend appropriate screenings, and continue providing the best care possible as she grows.
To everyone who has followed Harper's journey, prayed for our family, donated, shared our Help Me Bounce campaign, and celebrated every milestone alongside us... thank you. Your support has truly kept us afloat as we've navigated countless appointments, therapies, hospital stays, medical equipment, genetic testing, and years of uncertainty. Because of your generosity, we've been able to focus on what mattered most, giving Harper every opportunity to thrive. We will never be able to fully express how grateful we are for every single one of you.
There is still so much to learn about this syndrome, and our journey is far from over. But today, we finally have a name. We have direction. We have answers.
Our hope is that because of children like Harper and families willing to participate in research, future families won't have to spend nearly a decade searching for the answers we've finally found.
Thank you for loving our sweet girl and for continuing to walk this journey with us. We can't wait to see what the future holds for Harper. 💜
Hi everyone. We wanted to share a little update on Harper and where things currently stand.
First, we have some encouraging news. Harper recently moved up on one of her waiver waitlists, which is a step in the right direction, even though we're still waiting for an opening. We also have another waiver application in progress. For that one, we've actually been offered a spot and are now waiting on final approval from the state. So we're in a unique position where one waiver is state-approved and waiting for an opening, while the other has an opening and is waiting for state approval. We remain hopeful that one of these paths will finally provide Harper with the services she desperately needs.
Over the past few months, Harper's nutritional and dietary needs have changed significantly. Because of those changes, the cost of keeping her fed and meeting her medical dietary requirements has increased much more than we anticipated. Like many special needs families, these aren't expenses we can simply cut back on.
At the same time, Harper's dad is currently between jobs as he transitions into a new position. While we're excited for this new opportunity, the temporary gap has definitely put additional financial strain on our family.
We're also now facing repairs and modifications to Harper's mobility chair and wheelchair ramp. These aren't optional expenses—they're essential to keeping her safe, comfortable, and able to get around. Unfortunately, they've added another unexpected financial burden during an already difficult season.
We are incredibly grateful for everyone who has supported Harper, prayed for our family, shared our story, or simply checked in on us. Every bit of kindness reminds us that we're not walking this journey alone. Thank you for continuing to stand beside our sweet girl as we navigate each new challenge. 💓
We wanted to share a quick update and thank every single person who has supported Harper and our family through this journey.
At this time, Harper is still waiting for waiver services, and unfortunately we do not yet have any additional answers or timeline regarding placement. While we continue navigating that process, her day-to-day needs continue to grow, particularly in areas such as nutrition, personal care items, therapies, and other essential supports related to her care.
We remain incredibly grateful for the generosity, encouragement, and outpouring of love shown to our family. Your support has made a meaningful difference in helping us meet Harper’s needs while we continue this wait.
Thank you for standing beside us, praying for us, and loving our girl so well. We appreciate each of you more than words can express. 💛