Family of little girl with ultra-rare genetic condition - suffering up to 34 seizures a day - determined to make lasting memories

Minnie Granger, who was born at 37 weeks, weighed just 4lbs 4oz after doctors noticed she had lost 80g while in the womb. Her mother, Hannah Granger, 29, was induced, and Minnie was delivered at 8.05pm on September 2, 2022.

Following her birth, Minnie underwent genetic testing and was diagnosed with a very rare chromosome deletion, missing 21 genes. No other case like Minnie’s has been found in global databases, making her unique.

The condition leads to severe epilepsy, which is causing progressive brain damage. Her parents, Hannah, and Gavin, 30, a mechanic, are heartbroken but determined to create lasting memories with their daughter, despite the uncertainty surrounding her future.

Hannah, who is Minnie’s full-time caregiver, said: "Minnie is a miracle and Minnie’s life matters. We were advised that no-one on the genetic database has the same gene and chromosome mutation as Minnie - meaning she is the only person in the world. She is one of a kind."

"Every seizure Minnie has takes away some sort of development," Hannah continued. "She's such a good wee girl. She's got loads of personality. She could be having a seizure one minute and smiling the next."

At 36 weeks of pregnancy, a scan revealed Minnie had lost weight in the womb, leading to Hannah being placed under consultant care. When Minnie was born, her low birth weight and distinctive features indicated that something might be wrong.

Recalling the difficult time, Hannah said: "Minnie’s temperature was so low I was allowed to hold her – she was wearing three cardigans, two hats, swaddled with three blankets and still on a hot mattress. I was meant to be in this bubble with my new beautiful girl but my head was now all over the place."

Genetic tests at 14 weeks revealed that Minnie had a micro deletion in chromosome region 2q24.2q24.3, a very rare and little-known condition. Children with similar deletions often face significant developmental delays.

"Our world as we knew it changed and would never be the same," said Hannah, who also has two other children, Finley, 11, and Kai, five. “By this time Minnie could sit in her highchair, hold her head up was starting to wean, smiling and giggling watching her brothers. We knew she would never have the life her brothers would have, and we knew she would possibly never get married and have a job but this interaction was amazing."

In June 2023, Minnie had her first seizure. "With Minnie snuggled on my chest having a nap I felt her body go tight and tense and stiffen up. Lifting her off me around 30 to 40 seconds later she did it again. I instantly knew this was wrong," Hannah recounted.

After being taken to A&E, Minnie was diagnosed with infantile spasms and prescribed anti-seizure medication. However, the medication made her sick, and she was urgently transferred to Crosshouse Hospital in Ayrshire. "Minnie was deteriorating. Her whole body now moving, twitching and tensing – she couldn't bend her arms or her legs," Hannah described.

Minnie was subsequently transferred to Glasgow Queen Elizabeth Hospital, where she was diagnosed with movement disorders, including dystonia and dyskinesia, and required a gastric tube due to her inability to suck or swallow. "Every hour that went by Minnie became so unrecognisable due to the bloating and puffiness of the steroid treatment," Hannah shared.

In July 2023, Minnie returned home with a feeding tube and a positional wheelchair, as she could no longer hold her trunk or control her head. Her seizures continued to increase, and she was later diagnosed with drug-resistant epilepsy. The discovery of the missing SCN2A gene, which is associated with epilepsy, provided more clarity on Minnie’s condition.

‘This crippled us’

In December 2023, she was diagnosed with cerebral vision impairment, and by April 2024, an MRI revealed that her brain’s white matter was deteriorating due to a severe form of epilepsy known as developmental and epileptic encephalopathies. "This crippled me, us all – this meant that epilepsy was what had caused this horrific regression in Minnie, our Minnie," said Hannah.

The family is now seeking funding to adapt their home for Minnie’s needs as they face an uncertain future. "When I am home alone, I have to take Minnie everywhere with me - from the toilet to the garden hanging out washing," Hannah said. "Epilepsy has taken over every form of normality we once knew."

To support Minnie and her family, donations can be made at GoFundMe.