Story written by Vanessa, Mum to Sage and Liam
I was just a teenager when I first heard the term, Neurofibromatosis Type 1 (NF1). It was mentioned by my midwife who informed me that my baby had a 50/50 chance of inheriting this horrible condition from her paternal father. She referenced it as Von Recklinghausen's disease, which is now known as NF.
Needless to say, I was scared out of my mind hoping my unborn baby didn’t have tumours and defects. She assured me that once Sage was born, she would complete a thorough check to make sure she was fine. I’ll admit I wasn’t well educated on NF1 yet, and her poor explanation of the condition did little to ease my mind.
The day Sage was born in March 2010, they were perfect and didn’t have any of the symptoms the midwife spoke about. I thought we were lucky and assumed Sage had beaten the odds.
It wasn’t until my son Liam was born 15 months later, that the term NF resurfaced. Liam was not breathing when he was born and was rushed to Monash Children’s Hospital for treatment.
Within 27 hours, he was having life-saving surgery to have a right-middle lobectomy for Congenital Lobar Emphysema (CLE); a rare birth defect of the lower respiratory tract which causes hyperinflation of the pulmonary lobes.
We were referred to a local paediatrician and specialist for follow up appointments back in Geelong.
After our first consult, he suggested Liam may have NF1, as well as CLE and asked for a family history. At the time, I couldn’t remember the condition the midwife told me about only 15 months ago, so I didn’t say anything.
The same paediatrician confirmed both Sage and Liam had NF1 when she was just 18 months old following a thorough check of both kids. Both had large heads, freckling in the groin and armpit, as well as café au lait spots, which all indicated they had inherited the condition.
I didn’t know what that meant, nor could I fathom the enormity of the diagnosis until a second paediatrician took the time to explain in great detail what NF could mean for my beautiful children. Maybe I was in denial, I’m not sure. We didn’t need genetic testing as we knew it had been inherited from the paternal side.
Sage was only two at the time and Liam, just 5 months.
Over the next few years I struggled to find doctors who knew anything about the condition. Many would appear shocked when I told them about it. How could medical professionals have so little knowledge?
When the kids were 4 and 5 years old, we found a local paediatrician who saw them regularly throughout the year (at least three to four times). We were fortunate enough to be linked in with the NF clinic at Royal Children’s Hospital Melbourne funded by the Children’s Tumour Foundation for all of our treatments and specialist appointments.
The gorgeous Natalie (Clinic Coordinator) has been a blessing to our family making appointments go smoothly and guiding me in the right direction.
Sage is now almost 11 and Liam is 9. They’re used to having appointments every other month for MRI’s, Ophthalmology, dental, X-Rays and other NF Clinic updates. However, as the kids get older, their tumours and learning difficulties are starting to become more noticeable – particularly at school.
Sage has been diagnosed with scoliosis, an optic pathway glioma (OPG), bowing of the tibia, pre-precocious puberty (at correct age now), anxiety and experiences learning difficulties.
They have also started to develop noticeable neurofibromas on her skin and two plexiform neurofibromas in her back.
Sage had her first surgery in late 2020 to remove the two plexiform neurofibromas on her back that were growing rapidly and catching on her clothing. The medical team decided it would be better to remove them early before they became a bigger issue.
The surgery went well, but recovery was harder than anticipated. The two growths were sent off to pathology for testing, but thankfully nothing more serious was detected.
Sage is such a kind-hearted happy kid who loves to cook and often says they want to be a chef when they're older. They love to go swimming at the weir and spends a lot of time on their iPad doing digital drawing – and getting quite good at it! Sage loves spending time with her best friend and watching Riverdale.
Liam has also been diagnosed with scoliosis, ADHD and Autism, as well has learning difficulties, neurofibromas and experiences gastrointestinal issues.
He is a happy energetic little soul who loves going to skate parks to ride his scooter.
He wants to be a YouTuber (YouTube content creator) when he’s older and loves playing Minecraft and Roblox with his friend.
He loves watching cartoons and playing hot wheels with his brother.
Both Sage and Liam try their best at everything and never let NF define them. It’s hard for them to navigate the many obstacles NF throws in their way, but you wouldn’t guess it. I love how brave and strong they are. As a mother I watch on and admire their courage to face anything life throws at them.
We live in Wodonga but spend a lot of time in Melbourne for appointments. I try and do as many fun things as possible with them while we are there so it’s not all just about the medical appointments. My hope for the future for them is to be happy, healthy and to follow their dreams.