My name is Maxine Gardner and I live in SA with my husband, daughter Kim and two noisy fur babies!
Our story is a little different from others in that the NF gene has been passed down through at least five generations of our family. Each person’s symptoms have been very different, demonstrating just how variable this condition can be – even within the same family. Both my daughter and I have NF, as did my Mum, Grandmother and Great Uncle. Based on this information, it stands to reason that one of my grandmother’s parents also had the condition.
I am fortunate to have had very mild symptoms, but both my mother and daughter have dealt with some quite severe complications as a result of their NF.
At 16, my mum had a lump removed from her neck, but the surgeon made an error during surgery which resulted in paralysis of her arm.
Something she was forced to live with her entire life.
By the time I was a teenager, she had developed hundreds of small neurofibromas everywhere on her body.
Unfortunately, there were also some in her back, which compressed her spinal cord and caused quadriplegic symptoms.
I recall mum telling me about a conversation she had with a doctor soon after emigrating to Australia from the UK in the 60s. She was pregnant with me, when her doctor noticed her lumps and bumps. Surprisingly, he identified it as “Von Recklinghausen’s Disease “ and asked her if it was an English disorder. Apparently, he had a patient present with similar symptoms the previous year who was also from England. She certainly set him straight. That was my mum!
It was awful to watch her slow deterioration, but her mind remained alert until the very end. She died in 2010 as a result of complications with her NF.
My daughter, Kim experienced very different complications again.
She was a very irritable baby, and it soon became clear she was experiencing developmental delays in almost every area.
I recall one tactless paediatrician say that she would “never cope with a normal school but would develop (puberty wise) as normal.”
She was only 2 and a half at the time. We proved him wrong.
Despite being diagnosed with an intellectual disability, speech and language disorder, ADHD and epilepsy, with the support of a special educator, Kim attended school with her peers.
It has been 30 years since that conversation, but it has remained with me (maybe as a reminder) to never under-estimate what our kids are capable of.
As a She is now 30 but did attend school with her peers.
It was very difficult when she was young, and frankly I don’t know how I did it! We had very little support.
We consider ourselves fortunate that she doesn’t have any tumours in nasty places. She is happy, healthy, and loves basketball. In fact, she has represented South Australia in the Ivor Burge Competition for players with an intellectual disability five times.
She is now training for the Special Olympics.
She has lived independently with a carer support but had to come home due to circumstances out of her control.
She is now looking forward to being able to fly the coop again, but for right now one of her main concerns is avoiding triggers for her epilepsy. She can be strong willed, which under the circumstance can be a good quality to have. She is ever vigilant.
As someone who has spent the better part of five decades advocating for a child with disabilities, while also watching on helplessly as my mother became more and more ill, I think I would be forgiven for feeling a great sense of grief. I have and I do, but I am also incredibly proud of them both.
Whether a diagnosis of NF is expected or not, you grieve for what could have been and reflect on whether it’s your fault.
My advice for anybody who sees themselves reflected in these words is that – your feelings are valid and it’s ok to feel that way. The best thing to do for your child is to be a strong advocate. Get what they need, Demand if necessary!
I’m not going to say that it is not hard, bloody hard at times, but I will tell you that it is worth it. It will be scary at times and at other times, downright depressing, but the hospital visits and ambulance rides are just part of Kim’s journey and I wouldn’t be anywhere else than by her side through it all.