Jack's Dad Mark has shared his son's story.
Jack’s journey to the point of identifying Neurofibromatosis (NF) has been long, as a Mum and Dad, we knew something was going on with Jack, Mum noticed more than Dad. We struggled to identify the exact cause for years, Jack met all his milestones other than speech (too much twin talk) and had all his immunisations over the years at all the correct times. Jack was born a twin with six plus café-au-lait spots, yet it was never a discussion point.
Jack and Mark
Jack had an eye check whilst at preschool and a note was sent home recommending an optometrist review, Jack was identified as requiring glasses. Looking back, Jack’s lack of interest in drawing, colouring-in etc. could have been an indicator of an eye issue.
Jack began speech therapy, not confirmed because of NF, Jack and his twin Oliver had developed their own language and were falling behind in basic English sounds and pronunciations, this continued for two years.
Age 4 - Jack began irregular vomiting episodes. Looking back, it was odd that no one else in the family (2 adults, 3 children) ever had the same vomiting. After a number of these vomiting episodes, we talked to the doctor with no real outcome and a low level of interest. We began recording the details of before and after vomiting episodes, what Jack ate, what he was doing, etc.
Age 6 - Over the next two years the vomiting episodes increased in duration and severity, as parents we remained concerned about his vomiting and now dehydration, we were also concerned about what our hospital was thinking about us as parents with the visitations slowly increasing in frequency and length (the diagnosis to come offered complete relief for this concern). With the increased vomiting duration, we took Jack to the Emergency Department, Jack would be admitted, observations would be taken, Jack would be given a bed, some anti-nausea medication (that was vomited out) and fluids. A doctor would visit, ask questions, have a look, listen to Jack’s chest, prod Jack’s abdomen and recommend continuing with fluids. After many hours the vomiting would reduce, we would either go home or Jack would be admitted to the Paediatric Ward for intravenous fluids and an overnight stay with discharge the next morning. Jack didn’t complain of migraines or headaches initially.
Jack on one of his many family adventures
We struggled to identify the exact cause for years, Jack met all his milestones other than speech
At age 7 and half and after numerous visits to our local hospital, a Pediatric doctor asked about Jack’s multiple café-au-lait spots? Other than we knew Jack had the spots, we had nothing else to offer, we just thought they were birth marks. This Pediatrician went away and came back after a short while after asking more about the café-au-lait spots, it was at this time that NF was discussed and genetic testing was recommended. We were given some information on NF and recommended not to Google NF, so of course we went and Google’d it, what a shock we got! Google mentions more of the severe cases of NF, this was a moment sadness, fortunately it was short lived as this wasn’t our current reality. At this point, we were told Jack is getting stomach migraines.
In March 2021, we got the genetic results confirming Jack has Neurofibromatosis Type 1 (NF1). We were relieved to finally receive a diagnosis and have some direction. This was a point of empowerment to research, learn, ask questions and push for more help without feeling judged by anyone. A Genetic Counsellor appointment was booked, both Mum and Dad were recommended for and went for genetic testing. During the genetic counselling, no NF indicators were identified in either Mum or Dad, Jack’s NF1 was later confirmed as spontaneous. We got in contact with the wonderful team at the Children’s Tumour Foundation (CTF), CTF staff sent out a family care package, Jack was very excited upon receiving his cape and penguin.
By May 2021, Jack was having regular headaches/migraines and vomiting episodes lasting 12-18hrs with regular hospital visits. On one of the visits to the hospital, the Pediatrician was concerned at our frequency of visits to the point of wanting to conduct additional tests. Originally Jack remained in hospital to carry out a lumbar puncture pressure test. This would identify if Jack’s cerebral fluid was at an increased pressure causing the headaches/migraines. This was not carried out and Jack was transferred to Wollongong hospital for a brain MRI under general anaesthetic and an overnight stay. Jack then transferred back to our local hospital and was eventually discharged home. From this visit, a day trip was booked to the Sydney Children’s Hospital the following week.
At the Sydney Children’s Hospital, Jack’s history was reviewed. We saw an Ophthalmologist to check Jack’s eyes, nothing concerning identified other than Lisch nodules on his iris. This was followed by a review of his MRI with a Pediatric Neurologist, again nothing of concern was identified. Jack has now begun taking medication as an early intervention tool that has mostly been successful in alleviating the onset of his head symptoms which in turn prevents the onset of vomiting and hospital visits.
Jack’s school is onboard with his NF1 diagnosis and has been supportive. We had a meeting with Jack’s teacher to discuss the diagnosis and challenges Jack may have. We sent through the CTF teacher toolkit and an electronic copy of ‘NF Hero’ that was read to Jack’s class. We have good support from the school administration staff that help Jack as required with early administering of medication, and we created a headache diary that he keeps in his school bag to record details and potentially identify patterns that also provides an information flow of medication administered at school and home.
Jack’s school held its first ‘Green & Blue Day’ this year raising awareness of NF and asked for a gold coin donation in support of the CTF and further research. Jack took green and blue donuts and balloons in for his class with the support of his teacher. Out of over 500 children, Jack has had very few negative contacts with other children in relation to NF.
We are very proud of how Jack has taken his diagnosis in his stride, although he has had a couple of moments of sadness for his current situation and he doesn’t fully understand his potential future challenges. Jack is quite mature for age and has already begun advocating for NF through activities that support CTF and NF research.
What's next for us? Stay in touch and support the CTF NF community whilst waiting patiently for what changes puberty potentially brings for Jack!