I tell people my son has autism. It is just easier that way. Then I happen to perhaps mention he has regular MRI tests and people look at me crazy. People know about autism now. Awareness and understanding are constantly increasing because of the amount of people now diagnosed. But when your child has a rare genetic condition things are so different.

In December 2012 my son was diagnosed with the genetic condition neurofibromatosis type 1 (NF1). I had to get the doctor to spell that. 

Four and a half years later and I am still learning what that condition means for us.

It is so hard when your child is diagnosed with a condition no one has heard about. 

I spent so much time looking at him and wondering; is that because of his neurofibromatosis? Or is that because he also has autism? Or is that just an 'Isaac' thing? I look at things he does and think; should I help him with that or is that part of his condition and something he will always do? It is hard to know when to discipline him and when to be lenient due to his condition. When he struggles academically it is complicated due to his learning difficulties and autism but then I wonder if his genetic condition is also contributing? 

He is non-verbal. Is that because he has autism or neurofibromatosis? It is so confusing! Some children with autism are non-verbal but the vast majority talk. Only a very select few with NF1 are non-verbal but can anyone truthfully say what condition is causing what? 

Every year we seem to discover yet another way NF1 is affecting my son. Last year an MRI revealed he has an optic glioma, which is a tumour on his optic nerve. This is one thing we can say is definitely directly resulting from NF1 as it is a characteristic of the disease. A few months ago as a result of his second MRI we found out he has lesions on his brain too. His MRI results stated these were 'characteristic of NF1'.

We have no idea what the future holds because his condition is so unpredictable and progressive. His body will continue to grow non-cancerous tumours on his nerves his entire life. He will likely have a body covered in lumps just like his father who passed on the condition to him without even knowing. 

His optic glioma could remain steady or, he could at any time lose his sight. He is high risk for seizures (he already has these) and also for scoliosis. There are other more rare complications like high blood pressure and brain tumours that we have to look out for too.

His condition is not as rare as others but it is still not really heard of. I don't have all the answers for the questions people ask me, so because he also has autism I tend to just tell people he has that. I want to talk more about his rare disease but it is so hard when no-one has heard of it. 

One day I will have to explain about neurofibromatosis to his sister. That won't be easy because it is such a complex and unpredictable condition. It is not something I can buy a book about and read with her. Even though we have met other children with the condition not one is like her brother in any way. That makes it so much harder to explain. 

We have a diagnosis of a rare condition but in many ways we are no further forward to understanding our son as his needs are complex and he has a mix of several things. 

He has several eye conditions, complex autism, is non-verbal and has learning difficulties. He also has a rare genetic condition that no one has really heard of. He is unique and complex, different and complicated, yet fun and full of life. 

I hope by talking about neurofibromatosis type 1 that maybe I can help others hear about it even if all they know is my son’s story. 

The more we talk about the things we live with, the more people will understand and the more tolerant society will be.