One year ago the word “neurofibromatosis” was completely unknown and unheard of for Alison and her husband, Brendon, from Hawkesbury. Today neurofibromatosis, or NF, is in their daily lives after learning that not only did their three year-old son have NF – Alison did as well.
Since William was 12 months old Alison knew something was not right, but she struggled to find any answers.
“Doctor after doctor told me he [William] was fine, that kids all learn at different rates, and that being a first-time mum it was normal for me to be paranoid, but I knew his development was delayed,” says Alison. “He had lots of problems with eating and struggled to communicate. He was constantly upset and grabbing at his head, which we now know was because he had been experiencing headaches.”
After years of worrying Alison found a paediatrician who noticed something was unusual with William, and after several tests confirmed he had NF1.“I was both relieved and completely devastated at the same time,” recalls Alison. “Relieved because I wasn’t overreacting, but completely devastated by the diagnosis.”
This was just the beginning for Alison and Brendon as more tests revealed additional symptoms that William had unknowingly been battling, including an MRI scan that showed small lesions on William’s brain.
Doctors suggested Alison and Brendon also be tested for the genetic condition, and they soon learned that Alison, too, had NF1.
“Again my world came crashing down. I felt terrible that I was the one who passed on the NF gene to Will, and now our newborn baby, Matthew (7mo), would also need testing as there is a fifty per-cent chance of him having it as well,” says Alison.
As difficult as it was to learn of hers and her son’s condition within just a matter of months, Alison was glad to finally have some answers.
“I was both relieved and completely devastated at the same time,” recalls Alison. “Relieved because I wasn’t overreacting, but completely devastated by the diagnosis.”
“It explains so much – why I had learning difficulties as a young child, why my son and I have larger than normal heads, the brown spots, the little lumps that grow on our bodies, frequent headaches. It’s not the diagnosis I wanted but it could be worse, and it’s nice knowing there is a reason for it all,” says Alison.
Focused on addressing William’s developmental delays early, Alison sends William to pre-school three times a week and also takes him to speech and occupational therapy. With learning difficulties affecting fifty per-cent of children with NF, Alison fears this will attract schoolyard bullies.
“He is such a sweet, quiet kid. I’m worried if he has learning difficulties he will get picked on,” says Alison.
Although fairly new to the world of NF, Alison is ready to tackle the condition and work to help raise awareness for the common yet relatively unknown condition.
“Explaining to everyone what NF is – what it does, what they can get what tests need to be done – it’s so exhausting,” says Alison. “Since finding out William had NF1 I was so surprised at the lack of public knowledge or help available. It’s amazing how many people have NF, but so many have never heard of it. Now we just need to spread awareness and get the word out about NF.”