Ho-ho-ho! Gather around, my little elves, for a tale not of the North Pole, but of a quest much closer to the hearts of those in the medical field. This story unfolds in a land far away, in the bustling workshops of the Children’s Hospital at Westmead in Sydney, Australia, where dedicated researchers embarked on a noble journey to help children with a condition known as Riboflavin Transporter Deficiency (RTD). This condition, my dear friends, is like a Grinch that steals away the joy of movement and senses from children, bringing challenges such as muscle weakness, hearing loss, and difficulty in coordination.

Our heroes knew that to defeat this Grinch, they needed a magical tool—a functional outcome measure, much like my list of who’s naughty or nice, but for tracking the progress of these brave little warriors. They turned their gaze to a well-loved scroll, the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS), a treasure map for navigating the progress of children with neuropathies. However, this map was not quite right for the journey through RTD. It needed a sprinkle of Christmas magic to tailor it for these special children.

With the wisdom of the ages, they reviewed data collected over a decade from eight courageous adventurers battling RTD. They discovered that some of the challenges on the CMTPedS map were not quite fitting for their journey. Like elves in a workshop, they set about crafting a new tool, the Riboflavin Transporter Deficiency Pediatric Scale (RTDPedS), adding new challenges such as ‘Shoulder internal rotation’ and the ’30-s sit to stand test’ to test their strength and function, while removing or modifying others to better suit their quest.

Through pilot testing and careful consideration, they replaced a composite balance challenge with a simpler ‘Feet apart on a line eyes open’ task and decided that ‘Pinprick sensation’ was a hurdle too many had already overcome, showing no difference in their journey.

And so, my dear friends, with the creation of the RTDPedS, our heroes have provided a magical tool to measure the strength, function, balance, and mobility of these brave little warriors. This tool promises to light the way in clinical trials and studies, helping to assess the severity and progression of RTD, and ultimately, to find ways to banish the Grinch of RTD once and for all.

As we close this chapter, let us remember the spirit of Christmas lies not just in giving, but in the relentless pursuit of hope and healing. May the RTDPedS be a beacon of hope for many, guiding them through their journey with the same joy and determination that fills the hearts of children on Christmas morning. Merry Christmas to all, and to all a good night!