What is Neurofibromatosis type 1? By Miriam Gwynne

Just another disease you had never heard of?

My son has a rare disease.

A rare disease is defined as a condition that affects less than 5 in 10,000 of the population.

His condition actually affects 1 in about 3,000 people meaning it is actually one of the most common rare conditions, yet so few have heard of it.

Have you heard about Huntington’s? What about cystic Fibrosis? Would you believe me if I told you my son’s condition actually affects MORE people than both those conditions COMBINED!

There are over 8,000 rare diseases, many of which you will never hear about.

That is until it affects YOU!

My seven year old has Neurofibromatosis type 1.

His body has no tumour suppressant. His body continually grows tumours  both inside and out.

You would never know he has this other than  the cafe-au-lait marks on his skin.

Yet this rare disease can and does affect so much more about him from his bones and skin, facial disfigurement, seizures, headaches, brain tumours, amputation, learning difficulties and scoliosis to name a few.

The only way to truly know where all my sons tumours are is to do an MRI scan.

Some tumours require operations to be removed due to the fact they can cause blindness or paralysis.

Some need ongoing intense treatment like chemotherapy.

There is no way to predict how this incurable disease could affect you.

So on rare diseases awareness day why do I want you to know about Neurofibromatosis type 1?

I want you to know because it is more common than you think.

I want you to know because every single day children and adults are in pain it’s something you can not see.

I want you to know about it because I personally know children who have had legs amputated, lost sight, had chemotherapy and underwent large amounts of operations.

I want you to know about it as it explains so much of what my son fights every single day silently.

I want you to know about it as one in four children diagnosed with Nf1 go on to also recieve a diagnosis of autism.

There are so many similarities with this common neurological disorder.

It is just that those with NF have a genetic component and medial complications too.

I want you to know that it is progressive.

My son will never recover and as he gets older the likelihood of further complications increases.

To me Neurofibromatosis is now something we have to live with daily.

But I know to you it is just another disease you have never heard of.

I truly hope it never effects you.

I wish I had never heard of it either.

Kindly written by Miriam in honour of Rare Diseases Day. Miriam writes about her amazing family on her website Faithmummy which can be found Here

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