Kalli and Nick Frankel became first-time parents in 2021 when their daughter, Persefoni, was born. At birth, Sefi had a small head circumference, and even at 4 months old had trouble holding her head up. She then began missing motor milestones, and at 6 months, early intervention was initiated to begin assisting her with rolling and sitting up independently. Sefi finally began to crawl at 14 months old, and a little after her second birthday, she started walking.
Kalli always felt there was a deeper explanation for Sefi’s developmental delays, despite her pediatrician telling them to “wait and see” when she tried to address her concerns. She constantly hoped Sefi would have a sudden leap in her development and her “worries would fade away.” It wasn’t until November of 2023 that Kalli and Nick would finally get the answers they were looking for.
A few months prior to November, The Frankel Family inquired about a genetics consultation with the Division of Medical Genetics and Metabolism at Mass General for Children (MGfC). While other hospitals have a yearlong waitlist, MGfC is able to see prospective patients much sooner, thanks to a grant from The Genesis Foundation which provides additional support staff to help decrease those wait times. It was this initial appointment when the family first met Dr. Catherine Nowak, Clinical Director of the Division and longtime colleague of Dr. Murray Feingold, late founder of The Genesis Foundation for Children and pioneer of The Feingold Model of Coordinated Care. Dr. Feingold’s comprehensive approach to medical care allows clinicians like Dr. Nowak to spend more time with patients like Sefi, and her parents, leaving nothing unsaid and no question unanswered. Through the funding of The Genesis Foundation, this unique care model is put into practice every day via The Dr. Murray Feingold Coordinated Genetics Service at MGfC. It’s the reason Kalli and Nick were able to spend over an hour with Dr. Nowak getting to know each other. They discussed familial history, their concerns with Sefi’s development, previous testing they had pursued or undergone for her, as well as hopes for the appointment and possible outcomes of test results. This type of in depth conversation and care is not typical at other hospitals, and parents are often left feeling scared, confused and lost about what to do next. When Kalli and Nick left their appointment, they knew exactly what came next—whether they were ready for the answer was another thing entirely. Kalli says, “Although we were hopeful for more answers, we feared for the answer we may soon receive.”
Sefi’s genetic test results came back sooner than they expected, just one month after their initial conversation. Rather than having to wait for their previously booked appointment in another month’s time, Dr. Nowak arranged for them to meet with her sooner to discuss things in person. This is when Kalli knew in her heart something had been discovered, and although she and Nick prayed for this day, they also feared having to finally face what could no longer be avoided. Still, Kalli is grateful for the way the conversation was approached. She recalls, “That appointment discussing results was done in the gentlest manner. I’ll never forget the words ‘We’ve found what makes Sefi so unique’. The promise and positivity in those words brough me comfort. It made me feel that Sefi would not be labeled negatively for this diagnosis, but rather highlighted for her rare uniqueness.”
Sefi’s diagnosis is that of a rare genetic syndrome called DDX3X, a neurodevelopmental disorder caused by a mutation of the DDX3X gene located on the X chromosome—this is why the disorder predominantly affects females. There are roughly only 1,000 cases of DDX3X worldwide, and all of them have various forms of genetic mutations within the gene. Sefi is the only documented case with her specific deletion, meaning no one holds the same mutation as her, which just contributes to her rareness! Although there is a wide spectrum for how each child is affected, it is considered an intellectual disability and often impacts the receptive language skills, which Sefi currently struggles with. After reviewing Sefi’s test results, Dr. Nowak and the Frankel family spent another hour together discussing current research, prognosis, corresponding medical conditions and behaviors to look out for, as well as available resources such as community outreach with other DDX3X families, and financial support from foundations like The Genesis Foundation for Children, which provides assistive technology and other programs and services for children with rare diseases and genetic disorders.
Assistive technology enables children with complex medical needs to perform functions that may otherwise be too difficult for them. In Sefi’s case, that’s speaking, and non-verbal children like her can benefit greatly from assistive technologies like AAC devices. AAC stands for augmentative and alternative communication, and examples of these devices are tablets or laptops that have speaking applications built in. Unfortunately, these devices can be quite expensive, and there is a long waitlist for families to receive insurance approval for them. This is where The Genesis Foundation for Children strives to bridge the financial and care gap for deserving families like the Frankels. In January 2024, the Foundation provided Sefi with an iPad Pro and TouchChat app to help improve her communication, and according to her mom, the progress was almost immediate! Kalli says, “While out to eat, Sefi surprised us by requesting ice cream! She’s now learned to navigate her page of desserts—you’ll often hear her clicking for pudding, ice cream, chocolate, and any other sugary treat you can think of.”
While the journey hasn’t been easy, Kalli and Nick have been given a sense of peace since receiving a diagnosis for Persefoni. “In a way, Sefi has been removed from the societal expectation of ‘typical’ development. She defies odds every day and surprises us with her determination and progress.” Their daughter’s diagnosis has also given them a greater sense of understanding when pursuing certain medical appointments. Kalli herself is a nurse, so she has felt more comfortable navigating medical visits and doctors than perhaps most new parents, but because Sefi’s condition is so rare, there are a lot of specialists she needs to see and appointments to be scheduled. The Feingold Service at MGfC exists to support families in this area by scheduling multiple specialist appointments all in one day and handling any and all insurance needs. This allows parents or caregivers to spend less time worrying about medical obligations and more time as a family making lasting memories.
When Kalli, Nick and Sefi are spending quality time together as a family, they are usually cuddling up on the couch and watching one of Sefi’s favorite movies, like Elemental or Secret Life of Pets. However, they also love to spend their time traveling the world together, exploring places like Greece, Armenia, Portugal, and the British Virgin Islands. Kalli says, “Sefi is such a light in our lives! She has the sweetest smile and the calmest demeanor. You will always find her smiling and exploring. She loves the outdoors and water play…and has a determination and a zest for life.”
Sefi continues to surprise her parents every day with her growing skills. According to her mom, “Despite her hypotonia, Sefi is walking and growing her motor planning every day.” She even participates in hippotherapy, which is the use of horseback riding as a therapeutic treatment to improve coordination, balance, and strength, among other things. Sefi has developed a fond relationship with “her trusty steed, Poe”, and even signals “Go Horse” when being tucked into bed at night.
The progress Sefi has made in such a short amount time is remarkable, and both the support from The Genesis Foundation, and the care the family receives at Mass General for Children, will allow Sefi’s development to continue to improve and help her achieve her full potential. The success story of Sefi and other families like the Frankels would not be possible without the generosity of donors who wholeheartedly believe in the mission of The Genesis Foundation for Children and the care we fund for kids with rare diseases and genetic disorders. Your financial support doesn’t just make a difference, it changes families’ lives for the better.
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