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Searching for Others with the Same Rare Disease

Searching for Others with the Same Rare Disease

In December 2012 I took my just turned 4 year old son to hospital to see a neurologist. A few months before he had had an EEG test and we were apprehensive about getting the results.

Six months prior he had been diagnosed with severe autism and global delay. We knew there were links with epilepsy and were expecting to hear if this would be the case for us too.

It was a huge relief to hear the doctor tell us it wasn't epilepsy. But we had more to take in than that.

The specialist suspected there may be something causing the seizures, large head and learning difficulties so she asked about any birth marks.

My son had loads of them!

With a large head, multiple cafe au lait marks on his skin, learning difficulties, an abnormal EEG, and freckles under his arm pits the specialist suspected our son had a rare genetic condition called Neurofibromatosis type 1. 

His twin sister was with us but she had none of the signs.

I also had no signs so the doctor looked at my husband since NF1 is often inherited.

He had mild learning difficulties, multiple cafe au lait marks everywhere on his body, a large head, freckles under his arms and over a hundred neurofibromas all over his body.

The doctor was shocked that at 55 years of age none of these markers had ever been picked up on and he was diagnosed too with Neurofibromatosis type1 on the spot.

We went to hospital for one thing and left with half our family diagnosed with a rare genetic condition.

It took time for that all to sink in. My google search history was full of all manner of things related to nf1.

It may be a rare condition but in actual fact 1 in every 3,000 people have it.

The town I live in has a population of 53,000 people. If 1 in 3,000 people roughly have the same rare disease as my son and my husband this potentially means there are another 15 people in my town alone who may have neurofibromatosis type 1.

The population of Great Britain is roughly 65.1 million so that could mean there are as many as 21,700 people living with neurofibromatosis type 1 in Britain. 

What if like my husband they have no idea?

Neurofibromatosis type 1 causes tumours to grow on nerve endings throughout the body. It can cause serious problems for some including brain tumours, disfigurement, blindness, amputation and epilepsy.

For others it can be a case of having birth marks but having no idea of the significance of them.

Through charities and support groups I have had the honour of meeting other families who have NF1.

Of the possible 15 others in my town I have met two so far. I have met and connected with many others throughout my country but nothing like the 21 plus thousand estimated to have NF1.

I plan on keeping searching for others.

I remember feeling so scared and alone when my son and my husband were diagnosed and I wonder if others feel like that too.

I wonder if any other families struggle with so many appointments and doctors who know very little of your child's condition?

Does anyone else continually feel their child's body for lumps?

Do other adults struggle with their self esteem like my husband due to how they look?

When you live with someone with a rare condition connecting with other families in the same position brings a special bond.

We are in this together.

We know there are many more of us out there...even in the very town I live in..

I hope one day we might somehow connect.

Firefly Blog

Real life stories, issues and experiences of day to day life by special needs parents and
healthcare professionals.

Miriam Gwynne

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Full time mum and carer for two truly wonderful autistic twins. I love reading, writing, walking, swimming and encouraging others. Don’t struggle alone and always remember someone cares.

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