For mum Christine James, “neurofibromatosis” was a word she had never come across until meeting her husband Paul.
Paul has a very mild case of NF1, which developed as a result of a spontaneous mutation. No other family member had previously been diagnosed with NF.
Given Paul’s mild case, it was not until Christine and Paul decided to start a family that NF became the subject of conversations.
When we decided we wanted children, we researched on the internet and we spoke to a geneticist. While we now know a lot more about what could happen with NF, we probably would have made the same choice to have children as there was a bit of a mind set, however ignorant, that it couldn’t happen to us.”
Their oldest son, Ethan, was born 15 weeks early and spent five months in the neonatal ICU before Christine and Paul were able to take him home.
Ethan’s diagnosis of NF was complicated due to his premature birth, which led to a number of other medical issues, including mild cerebral palsy, however, within weeks of coming home Ethan had presented with enough café-au-lait spots to confirm his NF diagnosis.
Ethan is now 10 years old and can now include autism, precocious puberty and sensory processing disorder to his diagnoses.
He attends year 5 in a mainstream school but does require considerable assistance.
He is a beautiful boy with extremely happy mannerisms. His report cards always state how hard he tries and how enriched the classes have been with Ethan included.
Christine and Paul’s second son, Nate, was born at a healthy 36 weeks, but his six-week check-up revealed 2 café-au-lait spots.
At 9 weeks Nate was hospitalised with RSV bronchiolitis and during his stay underwent a CT scan and urgent MRI for the unusual development of his right eye.
After months of uncertainty, the doctors confirmed that a benign tumour – a plexiform neurofibroma – was growing rapidly beside Nate’s right eye.
By the age of two, Nate had undergone countless MRIs, a CT scan, a PET scan, a failed chemotherapy drug and a surgical procedure to debulk the tumour.
A few weeks before Nate’s 4th birthday and after a lot of insistence from Christine, Nate was accepted onto the MEK Inhibitor trial at Sydney Westmead Children's hospital for a drug called Trametinib. For the first two years the family travelled every month to Sydney to partake in the trial, since then the trips were spread to three monthly. Nate is still currently on the trial, but it will soon be ending.
We are not aware of the effects that would be caused by ceasing the drug and will therefore be continuing on it on a medically assisted community program.
Although the trial has taken a lot from our family (all of Christine and Paul’s leave from work were taken up early in the trial and Ethan has had to sacrifice time spent with his parents and brother along with reduced therapy sessions to assist him in thriving overall), the family know they would not have made any other decision.
You do whatever it takes to help your children and this trial has brightened Nate’s future and given him a new lease on life."
Early on in the trial, Nate's tumour showed very clear signs of shrinkage, since then it has remained stable with some further possible shrinkage.
Christine said that the difference in the tumour is very noticeable, "as Nate has grown, the tumour hasn’t and it has meant his facial disfigurement is now far less obvious and the pain associated with it has reduced significantly".
Nate is in year 3 now and 8 years old. He enjoys school immensely. He has lots of friends and academically is achieving good results.
He does have extremely low muscle tone and is diagnosed with global hypotonia, but he doesn’t let this stop him. He just keeps on trying and is the most determined boy you could meet.