Thank you to Mileah's parents, Nathaniel and Justine, for sharing their daughter's story. This story was originally written in September 2021 and updated in November 2021.
From the moment Mileah was born we knew something wasn’t quite right. She was placed in the Special Care Unit at the Mater Hospital and after one day of life, she was diagnosed with congenital glaucoma, which has significantly impacted her vision to the point where she is legally blind.
Nathaniel, Mileah’s father, has a spontaneous case of NF1 and our first suspicion that Mileah had NF1 came around 8 weeks of age, where we noticed several cafe au lait markings on her body. We eventually saw a paediatrician at 5 months and she referred us for an MRI.
The doctor had checked off enough of the NF1 criteria to make the diagnosis but wanted to confirm why Mileah had an unusual head size and shape for her age.
The result of the MRI was “impressive” so to speak, as the results showed multiple plexiform tumours growing on several cranial nerves and found that there was sphenoid bone dysplasia, another tick in the NF1 diagnostic criteria box. This then placed us in the oncology ward of the Queensland Children’s Hospital, not because the tumours were cancerous, but because there was a glimmer of hope."
Dr Timothy Hassall was recruiting children with inoperable plexiform NF1 tumours as part of a clinical drug trial that would start in the next two years.
After four more MRIs under anaesthetic and plenty of consultation, the day arrived where we were given the official paperwork to commence the TiNT clinical trial using the drug Trametinib. The hope is that her tumours shrink or the progression of them is halted as the drug targets the MEK pathway of cell development.
Mileah has been on the trial for 6 months now, but it hasn’t been easy with multiple side effects involving her skin and changes to our daily routine to accommodate for this medicine.
However, the results of her 3-month MRI were very promising and she is due to have her second MRI as part of the trial in the coming days.
NF1 has impacted our family in many ways. With genetic testing being available nowadays, this has helped paint a clearer picture of how all that has happened in Mileah’s short life is connected. Nathaniel was diagnosed with NF1 at the age of two and his case is mild, with an OPG and potential pain with multiple plexiform tumours throughout his body should they grow.
As Mileah’s father, he has struggled with the “blame game” daily, with each time we visit the hospital, something else appears to be connected to NF1. We did expect that one of our children may end up having this incurable condition, but little did we know how differently it could manifest from person to person.
Mileah’s strong will and determination have got her to where she is today, along with the help of many medical professionals at the QCH and therapists from Vision Australia. The work that the Children's Tumour Foundation of Australia has done in order to make research happen and allow this drug trial to be available in Australia is phenomenal and has given us hope that there may be a cure one day."
NF1 has impacted Mileah’s development due to how it has affected her physical development, with low muscle tone and hypermobility. Along with these NF1 symptoms, her congenital glaucoma could completely take all the sight she has left at any point in her life and she has several other eye conditions that impact her vision including aniridia (no irises), cataracts and corneal scarring.
There have been many moments throughout the last 3 years where Mileah has not let anything get in the way of her achieving some of the typical goals any child could have. From crawling to walking with a cane, eating and doing puzzles, running and mastering the slide! Nothing will stop her!