Baby is world’s first child with rare disease | UK News

A girl is the only child in the world with a rare condition that causes her to have up to 34 seizures a day.

Two-year-old Minnie Granger, from Glasgow, was born weighing 4lb 4oz at 37 weeks on September 22, 2022, after losing weight in the womb.

She was later diagnosed with a very rare chromosomal deletion and 21 missing genes.

This causes Minnie to have severe, life-threatening epilepsy, which is causing brain damage.

Her mother Hannah Granger, 29, said: ‘Every seizure Minnie has takes away some kind of development.

‘She’s such a sweet little girl. She’s got so much personality. She can be having a seizure one minute and smiling the next.

‘Minnie is a miracle and Minnie’s life matters.’

Doctors initially noticed Minnie’s minor dysmorphic features — low-set ears and low birth weight — which indicated something was wrong.

Hannah said: ‘Minnie’s temperature was so low they let me hold her. She was wearing three cardigans, two hats, wrapped in three blankets and still on a warm mattress.

“I was supposed to be in this bubble with my new beautiful girl, but my head was everywhere.”

The mother remembers well the moment of her daughter’s diagnosis and said: ‘Our world as we knew it changed and would never be the same again.

‘By now Minnie was able to sit up in her high chair, hold her head up and begin to wean, smiling and giggling as she watched her siblings.

‘We knew she would never have the life her siblings would have, and we knew she would possibly never get married and have a job, but that interaction was incredible.’

In June 2023, she had her first seizure.

Hannah said: ‘With Minnie snuggled up on my chest taking a nap, I felt her body tense and tense.

‘Lifting her off me about 30 to 40 seconds later, she did it again. I knew immediately this was wrong.’

Hannah took her to the emergency room and she was diagnosed with infantile spasms and given anti-seizure medication.

But after the medication made Minnie ill, she was taken by ambulance to Crosshouse Hospital in Ayrshire.

Hannah said: ‘Minnie was deteriorating. Her whole body was now moving, twitching and tensing – she couldn’t bend her arms or legs.’

Minnie was then taken to the Glasgow Queen Elizabeth and diagnosed with movement disorder, dystonia and dyskinesia.

She had to have a gastric tube inserted because she could not suck or swallow.

Hannah said: ‘With each passing hour, Minnie became unrecognisable due to the swelling and softness from the steroid treatment.’

She returned home in July 2023 with a feeding tube and a positional wheelchair because she could no longer hold her trunk or have any control over her head.

Minnie’s seizures continued to increase and she was formally diagnosed with epilepsy and later with drug-resistant epilepsy.

Hannah then discovered that Minnie was missing 21 genes and one of them was SCN2A, which is linked to epilepsy.

Minnie has been in and out of the hospital with seizures and was diagnosed with cerebral visual impairment in December 2023.

Hannah said: ‘Out of all the diagnoses we’ve had, it really hit me hard and I just cried my eyes out.

‘Why Minnie? What else can this horrible, horrible disease take from her?

‘The seizures then became an everyday thing, from one type to another, we had no control – the medication couldn’t control it. The neurologists couldn’t control it.’

An MRI scan in April showed that Minnie’s white matter is beginning to atrophy due to a severe form of epilepsy called developmental and epileptic encephalopathies.

Hannah said: ‘It crippled me, it crippled us all – it meant that epilepsy was what caused this horrible regression in Minnie, our Minnie.’

The family doesn’t know how much longer they will have with Minnie and is trying to find funding to adapt the house for the little girl.

Hannah said: ‘When I’m home alone I have to take Minnie everywhere with me – from the bathroom to the garden to hang out the washing.

‘Epilepsy has taken over every form of normality we knew.’

To donate to help Minnie and her family, you can do so here.

Get in touch with our news team by emailing [email protected].

For more stories like this, check out our news page.

MORE: 55-year-old man has penis amputated after ‘ugly bruise’ turns out to be cancer

MORE: Student ‘died for 25 minutes’ after suffering extreme sunburn

MORE: What I own: At 25, I own two homes — including my £158,000 Glasgow hideaway

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.