Aussie mum was 'in denial' after finding out both her kids have same genetic disorder

Aussie mum Vanessa Engel opens up to Yahoo Lifestyle about her daughter Hannah and son Liam's journey with Neurofibromatosis, a genetic disorder that causes tumours to form on nerve tissue, bone, or skin, and the signs every parent should look out for. These are her words:

"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. The day Hannah was born in March 2010, she was perfect and didn’t have any of the symptoms the midwife spoke about. I thought she was lucky and assumed she had beaten the odds.

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Brother Liam's birth changed everything

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.

We were referred to a local paediatrician and specialist for follow up appointments back in Geelong. It was confirmed both Hannah (who was only 18 months old) and Liam had NF1, 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.

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.

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.

Constant appointments and new challenges

Hannah is now 11 and Liam is 10. 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.

Hannah 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.

She has also started to develop noticeable neurofibromas on her skin and had her first surgery in late 2020 to remove the two plexiform neurofibromas on her back that were growing rapidly.

The surgery went well, but recovery was harder than she anticipated. The two growths were sent off to pathology for testing, but thankfully nothing more serious was detected.

She is such a kind-hearted happy girl who loves to cook and often says she wants to be a chef when she’s older.

Liam has also been diagnosed with scoliosis, ADHD and Autism, as well has learning difficulties, neurofibromas and experiences gastrointestinal issues.

But he is a happy energetic little soul who loves going to skate parks to ride his scooter. He wants to be a YouTuber when he’s older and loves playing Minecraft and Roblox with his friend.

We live in Wodonga, Victoria 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.

Both Hannah 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."

As told to Kristine Tarbert.

What exactly is Neurofibromatosis (NF)?

NF refers to a set of three genetic conditions that cause tumours to form on nerves in the body, including the brain and spine. Progressive and unpredictable, it can cause cancer, blindness and deafness, as well as bone abnormalities, learning difficulties, chronic pain and visible skin tumours.

Despite being one of the most common genetic neurological conditions, awareness of NF is low, often misdiagnosed or dismissed, even amongst medical professionals.

For the 1 in 2,500 Aussies living with the condition this can make the path to diagnosis long and complicated and can cause intense emotional turmoil for families, irreversible damage to a person’s health, and in some circumstances, can be life-threatening. The NF Hero Challenge is taking place throughout September.

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