Amarli Broome lives in Australia with her Mum Jade, her Dad Lee and her two brothers Bohdi and Jordi. Amarli will celebrate her seventh birthday in April this year, and unfortunately has spent most of her young life in hospital due to her rare and complex medical condition.

 

As I sit down to recount the journey of our precious daughter, Amarli, I’m filled with a whirlwind of emotions, love, gratitude, fear, and hope intertwining in my heart. It’s a journey that began with the joyous anticipation on of welcoming another member into our family, yet quickly transformed into a rollercoaster ride of medical challenges and unexpected turns.

 

Amarli was diagnosed with a rare genetic disorder at just 8 months of age, called GRIK 2. This rare condition has caused Amarli to be developmentally delayed, epilepsy, affected her fine and gross motor skills, her ability to walk, speak, eat and breathing difficulties. But Amarli is so strong and brave and continues to prove this every day. She has learnt how to sit in the past 18 months and has achieved so much, that we were told would likely be impossible.

 

Amarli’s birth, on the 27th of April in 2018, was a moment of sheer joy and relief. Holding her tiny 2.4kg of pink perfection in my arms, I felt an overwhelming sense of love wash over me. At that time it all seemed normal and we had no concerns and we were just so thrilled to finally have our baby girl in our arms safe and sound. Little did we know, our lives were about to take an unexpected turn.

 

The initial shock came with the news of Amarli’s failed hearing test, just days after her arrival. Amarli was diagnosed with Bilateral Auditory Neuropathy Syndrome. I vividly remember that day and as a mother, the thought of my precious daughter never hearing my voice or the sound of music was a blow beyond measure. It felt as though the dreams I held for her were slipping through my fingers.

But that was just the beginning.

 

Amarli had an MRI at 4 months of age which showed Delayed Myelination. At that point we were told by her Neurologist that she would be developmentally delayed, but to what degree, he was unsure. We were basically told to take her home, love her and wait and see. At just 8 months of age Amarli gave us the fright of our lives. She had an unresponsive episode and stopped breathing, I commenced CPR and Amarli was rushed to hospital via ambulance. Amarli continued to have these severe breath holding events nightly for weeks and spent the next four months in hospital. We were absolutely terrified at this point and I still remember we were only coming to terms with her disability and now not knowing what was happening to her was something no parent should have to endure. As the days turned into weeks, and the weeks into months, we were confronted with more challenges than we ever could have imagined. Seizures, respiratory concerns, feeding difficulties —each hurdle seemed to test us in ways we never thought possible.

 

The diagnosis of GRIK 2, a rare genetic disorder, shook us to the core. At the time there was only 3 other children known in the medical literature. With little information available and no clear path forward, we felt as though we were navigating uncharted waters, grasping for answers that remained just out of reach.

 

Yet, amidst the uncertainty and fear, there was one constant—the unwavering strength and resilience of our little girl. Despite the countless ambulance trips, hospitalisations, procedures, needles, x-rays and medications, Amarli’s spirit remained unbroken. Her smile held a brightness that lit up even the darkest of days.

 

As her mother, I found myself in a role I never could have anticipated—advocate, caregiver, and fighter all rolled into one. Learning to navigate the complexities of tube feeding, administering medication and managing Amarli’s daily needs became our new reality—a reality that required every ounce of strength and determination we possessed. Through it all, our family remained united in love and support, drawing strength from one another as we faced each new challenge head-on. Though the road ahead may be uncertain, we remain hopeful. We dream of a future where research brings answers, treatments, and ultimately, a cure for GRIK disorders.

 

We have spent many hours searching GRIK 2 in every corner of the internet – including Facebook desperate for information or to connect with others parents alike. With a disease this rare it has been difficult. But thankfully as the years have passed there is a foundation called Cure Grin who are committed to improving the lives of those with GRI Disorders and are hopeful to finding a cure.

 

Sadly, Amarli’s lung function has deteriorated over this past 12 months and she is now dependent on home Hi flow and Bi pap at night secondary to respiratory failure. Amarli is finally home after a very long six month admission to the Children’s hospital and her Drs have said that it is unlikely things will improve and that she will have a shortened life span.

 

Amarli has touched so many lives with her sweet and beautiful smile that lights up any room, her courageous determination and gentle demeanor. Amarli’s journey has taught me more than I ever thought possible— about the real meaning of life and to take each day as it comes, not sweat the small things, advocacy, love, hope, resilience and the incredible power of the human spirit. As her mother I am beyond proud of her and all she has achieved, despite her hurdles she has had thrown her way. Nothing will stop our little fighter. She is

a warrior, the bravest and most resilient girl in the world. Our real-life hero, our guiding light in the darkest of days. Amarli continues to show us how strong she is and proves everyone wrong with her continuous fight to be here. And as her mother, I am endlessly proud to walk this journey by her side, holding onto hope with every step

we take.

 

Our hope is to spread Amarli’s story and hopefully find a cure!