One family’s journey with an extremely rare disease

Our daughter Tilly’s journey began with a NICU admission at Advocate Illinois Masonic Medical Center two days after birth because of low body temperature and weight loss. There, we learned she was having seizures.
Tilly spent eight weeks in the NICU, undergoing a muscle biopsy, standard genetic panels, physical and feeding therapies, and surgery for G-tube placement. The seizures eventually resolved, and Tilly was discharged with a G-tube, apnea monitor, many medications and follow-up referrals with specialists.
Tilly’s condition confounded doctors for more than a year. When she was 13 months old, whole exome sequencing revealed a diagnosis of PURA Syndrome, a mutation of the PUR-alpha gene which was first described in October 2014. Her de novo mutation was a random (noninherited) genetic event. When Tilly was diagnosed, fewer than 70 people in the world were diagnosed with PURA Syndrome; a decade later, that number is over 800.
Even before her diagnosis, Tilly worked hard at physical, speech, feeding, occupational and developmental therapies through early intervention with the Advocate Children’s Hospital Pediatric Developmental Center. She learned to sit up at 18 months, crawl at 2 years, play with toys and use alternative means of communication. Every “inchstone” was cause for celebration.
Today, Tilly is an easygoing 10 year old with a great sense of humor. She doesn’t speak but understands much of what we say. She uses her eyes to control her “talker,” an alternative and augmentative communication device. She has 10 to 20 drop seizures a day, which causes your muscles to become limp during the seizure. This resulted in her losing her hard-fought ability to walk independently after developing intractable epilepsy. Tilly wears a helmet to protect her from falls and walks with assistance. She also wears a hard plastic scoliosis brace all day, even when sleeping, due to neuromuscular scoliosis. She has low bone density and will likely need hip and/or back surgery. As a component of her syndrome, Tilly was diagnosed with autism, which helps inform her treatment plan and address her sensory needs.
Tilly’s name means “mighty in battle,” which describes her perfectly. Over the past two years, she has suffered several battle wounds, most notably the loss of her permanent front tooth inflicted by a drop seizure. The Advocate Illinois Masonic Special Needs Dental Clinic provided compassionate care to try to save the split tooth, but in the end, it had to be extracted.
Our parenthood experience is worlds away from what we imagined. If you’re walking a similar path with a child with a rare or unknown diagnosis, seek support through social media, online organizations, a support group or therapist. Our involvement with the global Pura Syndrome Foundation has been a source of community and strength. Remember that more than 300 million people worldwide live with a rare disease, and many of the struggles are shared. Glynnis, one of our Advocate NICU nurses, once told us to learn to accept all offers of help. Those looking to provide support can find ideas and resources online. Ten years post-NICU, even small gestures of help mean the world to us.
Despite daily physical and medical challenges, Tilly is joyful and never complains. The way she lives in the moment is a good reminder to us all to simply pause for a breath, then smile, when facing life’s challenges.
Barbara Melendi is the mother of Tilly.
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