What it’s like living with Neurofibromatosis – NF1
Let’s talk Neurofibromatosis. This happy little face plays without a care in the world. She dances like no one is watching, laughs with her entire body and loves with all her heart. But this happy little face also lives with a genetic disorder commonly referred to as NF1.
Now, most people haven’t heard of this, which is surprising because it affects so many people. In fact, it is more common than a lot of other genetic disorders that ARE talked about. I hadn’t previously spoken much on this topic, because we chose to live life as normal until (or if) something major presented itself to us. I now feel that it is my duty to help spread some much-needed awareness by sharing our personal NF journey.
What is NF1?
NF1 (also known as von Recklinghausen disease) is the most common type on Neurofibromatosis, affecting an estimated one in 3000 people in Australia. NF1 is something you are born with and it is not contagious. It is a variable disorder, which means that it can affect children in many different ways. It usually causes freckles or spots, most often on the skin or eyes, and benign (not cancer) swelling or lumps around the nerves.
Many children with NF1 have no or very few medical problems, but about 4 in 10 children will have some complications. If there are no complications, the life expectancy of people with NF is almost normal. With the right education, people with NF can live a normal life. Some of the signs of NF1 do not appear until later in life, often around puberty.
NF1 can affect many different organs in the body in very different ways, but some features of the condition are more common.
Major features of NF1 include:
- Café au lait spots – these are flat coffee-coloured patches on the skin. It’s common to have one or two of these spots, but people with NF1 always have six or more of these birthmarks, which are always present before the age of five years. The number of café au lait spots is not related to the severity of the disease and they cause no problems or symptoms.
- Freckling – people with NF1 often have freckles in unusual places such as the armpit or the groin. They also tend to appear later (between ages three and five). Skin freckles are smaller than café au lait spots.
- Neurofibromas – these are benign swellings around nerves, which are usually seen as small lumps in or under the skin. Neurofibromas are not normally seen in young children but tend to increase in number and size around puberty and in adult life. They are usually small and generally cause no physical symptoms.
- Lisch nodules – these are small freckles within the iris (the coloured part of the eye). Lisch nodules develop by puberty in people with NF1. They are usually seen only on examination with a special lamp, and never affect vision or cause other symptoms.
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Some other common features of NF1 include:
- Learning difficulties, which may cause some problems at school
- Headaches, which are more common in children with NF1 than in the general population.
Rarely but possible, children with NF1 may also experience:
- High blood pressure (hypertension)
- Curvature of the spine (scoliosis)
- Bone problems (seen in the first two years of life)
- Large benign nerve tumours (called plexiform neurofibromas – these are usually present at birth)
- Spine and brain tumours that are usually benign
- Speech delay
Source: The Royal Children’s Hospital Melbourne.
We are so grateful to have had a very observant doctor and be diagnosed very early on. She wasn’t even 2 when we were told to see a specialist (and not to google the thing written down on the piece of paper). Of course, I did which probably wasn’t a very good idea, because what I saw was devastating. There were a lot of images showing people covered in lumps, bumps and some with gigantic external tumours. Ishq had some notable ‘birth marks’ which turned out to be cafe au lait spots. She has several across her back, groin area, tummy and down one of her legs.
A diagnosis can be made by the doctor following a thorough history and clinical examination. Other tests may be ordered to determine what parts of the body are affected. A blood test can be ordered but is not necessary to make a diagnosis.
Sadly there is currently no cure for NF and treatment for NF1 depends on the particular medical problems your child develops.
Ishq has Segmental NF1 (spots contained to her groin area) and it is unknown when, if or how it will affect her later on in life. Will she be able to have children? Will she have trouble going through puberty? Will she lose her eyesight or will she simply be embarrassed by her cafe au lait spots and freckles on her body? The uncertainty of it all has been the most difficult thing to process since her diagnosis.
For now, we will continue to be assessed annually by the wonderful team at the Neurogenetics Clinic at Westmead Children’s Hospital and see our eye doctor annually. Puberty will be a pretty big milestone for us and we just hope it doesn’t present with too many complications.
Learning & development difficulties
This is an area we are particularly aware of and monitor quite closely. Although, up until now it has been hard to determine what is age-related (typical toddler behaviour) or something that we will need support on when she starts school next year.
The Washington University Physician’s website says that fifty to sixty percent of children with NF1 will have some form of learning disability. NF1 patients typically have normal intelligence, but experience specific problems with reading, writing and the use of numbers. Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder.
Over 50% of children with NF1 also have issues with attention and executive function. Many of these children are successfully treated with medication and behaviour therapy. In addition, problems with fine and gross motor skills are frequently encountered in children with NF1. Affected individuals are typically managed with physical and occupational therapy.
Will they find a cure?
Although there is no cure at the moment, the gene that causes NF1 has been identified. A lot of research is being carried out in this area and there is a realistic hope for more effective treatments for the complications of NF1 within the next 5 – 10 years.
I recently came across a wonderful charity that hold a yearly event – The Cupid’s Undie Run. They believe there IS a cure for NF and are determined to raise the awareness and funds needed to make this happen.
Hopefully together, we can help them reach their goal. You can start by donating something no matter how big or small here.
We are so grateful to have a healthy little girl but can’t say we don’t worry whenever she complains about something hurting her. Is there a sneaky tumour growing in there somewhere or are we about to face another NF complication? We may never know until it rears its ugly head and will continue to help raise awareness in the meantime.