One in 93,000,000 people have my son's condition - doctors had never heard of it before

Jillian Hastings Ward’s boy Sam has a genetic condition called GRIN1 which has only 87 confirmed cases across the globe.

The rarity of Sam’s disorder means their family has been left on their own to advocate for his care.

Today marks Rare Disease Day and families affected have spoken to Metro about their ‘fight’ for more awareness and support for rare diseases.

One in 17 people will be affected by a rare condition in their lifetime.

Everyone thought Sam was ‘perfect’ when he was born in 2014, until his parents Jillian and Nick realised he was not seeing properly or developing as expected.

For three and a half years, a ‘barrage of tests’ could not work what Sam’s rare condition was.

The mum-of-two told Metro: ‘If you have an undiagnosed genetic condition it is a really scary place.

‘Nobody knows what is causing the problem and doctor knows what to do with you.

‘You have no idea what the future holds, because you do not know if it is degenerative or not.’

After taking part in the pioneering 100,000 Genomes Project, which aims to sequence 100,000 genomes of individuals affected by rare disorders, Jillian and Nick were told what was causing Sam’s development delays.

Sam became the first every child in Britain to be diagnosed with GRIN1, a genetic ‘spelling mistake’ which leads to epilepsy, developmental delays and movement disorders.

There are only 87 confirmed cases, or one in every 93,000,000, of the disorder around the world, according to charity Cure-GRIN.

This means Jillian and her husband have to fight to understand Sam’s condition and get the care he needs.

She said: ‘We had build this jigsaw, but the picture still has a big misty hole in the middle.

‘We are on our own, It is up to us to advocate for him.

‘You meet a new doctor and they say, “I have not met someone with GRIN-1, let me check that out on the internet.”

‘We have become experts on the condition because we live with it all the time.’

Her life has changed profoundly after Sam’s diagnosis. She had to give up her career to care for her son and take up patient advocacy.

She was awarded an MBE for ‘services to patients and participants in UK genomics’ in the King’s Birthday Honours 2024 and helped to set up the global charity Cure-GRIN and the UK-based GRI-UK.

GRIN1 is one of a number ultra-rate genetic GRI disorders.

Sam is now 10 but has the developmental age of a baby. His condition means he is non-verbal and wheelchair-bound.

Sam’s case meant genetic specialists are now aware of the condition and have been able to diagnose 15 other families in the UK with GRIN-1.

A magical moment came when Sam met another boy with same genetic spelling mistake as him in March 2020.

Jillian said: ‘There is a real moment when you meet someone with the same rare disorder.

Something just chimes and it feels like we are one community.

‘That extra level of connection seems to happen and it is really special.’

Jillian says there is ‘still work to be done’ to raise awareness of rare diseases in society and that with more awareness more funding will go into crucial research into these conditions.

Kelly Vickers-Earll and husband Mike discovered their son Oscar, now 6, had an ultra-rare genetic condition after realising something was not right with his development.

It took a ‘crazy’ number of hospital appointments and testing to reveal in January 2023 that Oscar has genetic mutation called creatine transporter deficiency (CTD).

CTD is shared by only 350 children across the world, or one in 23 million.

The disorder means he has delayed speech, autistic traits, delayed development, low muscle tone, intellectual delay.

Kelly told Metro: ‘Some people said we must be so upset to have this diagnosis, but we are thankful to know our sons diagnosis.

‘Yes its rare and there is no cure but we have an answer, it must be difficult for parents without an answer.’

‘It is the hardest thing to have a child with a rare genetic diagnosis because there are not many parents in the same boat as you.

‘The only thing I ask for is that is Oscar is happy all the time.’

The mum says she is constantly fighting a lack of awareness around rare diseases among doctors and in society.

She added: ‘We went to A&E and we mentioned CTD, and they did not what that was.

‘I have to push all the time. Getting Oscar into a specialist school was the biggest fight, but he got in.

‘I know some people find it very difficult. We still have to fight for everything.

‘We still get stares if Oscar is in a pram, or drooling. I know other parents and carers get the stares.

I just do not think there is enough awareness around rare diseases.’

Kelly hopes Rare Disease day can raise the profile of conditions like CTD and eventually lead to better treatment for people like Oscar.

‘Only having 350 people, you don’t get funding for research.

‘More awareness means more research, which would allow more parents to discover their child has CTD.

‘Hopefully a treatment will be found one day. Maybe not in my lifetime, or even Oscar’s lifetime.’

Despite Oscar’s condition, he brings joy and light into his family and friends’ lives.

Kelly said: ‘Oscar has changed my outlook on life for the better and I will be forever grateful to him for that. He is very caring and social.

‘He just has the most amazing smile on his face. He is just smiling all the time. The amount of things he goes through, he just carries on.’

There are 3.5 million people living with a rare condition in the UK, while 1 in 17 people will be affected by one in their lifetime.

Genetic Alliance UK, which supports people with rare and undiagnosed conditions, is spearheading Rare Disease Day in the UK.

Today they have also published a report on Rare Diseases, titled ‘More Than You Can Imagine’.

In the report those with rare conditions face the possibility of along journey to diagnosis, poorly coordinated care or barriers to accessing services or appropriate treatment.

‘Too often members of our community report having to “battle” and “fight” to get the care they need.’

They are calling for the UK government to renew the UK Rare Diseases Framework, which expires this year.

The Framework was established in 2021 and prioritises faster diagnosis, increased awareness of rare diseases, improved care coordination and better access to specialist care.

A Department of Health and Social Care spokesperson said: ‘We know that those living with rare diseases and their families face immense everyday challenges, and through our Rare Diseases Action Plan we aim to centre their voices to address the difficulties they face.

‘We have committed to three new actions to improve coordination of care, access to specialised treatments and bolster research into innovative therapies for these rare conditions.

‘More widely, our Plan for Change will transform the NHS by driving down waiting lists and investing in quality facilities to ensure all patients – including those with rare diseases – receive the care and treatment they deserve.’