Hope for Hermione

Hermione is an 9-year-old girl from Maidstone, Kent. She is a happy girl who loves life and definitely tries to live life on the edge!

She loves dancing, football and trampolines! She even loves being outside in the garden or swimming!

Her favourite people in her life apart from her mum and dad is her brother Declan and his friend Bobby! There is also AJ who Hermione spends a lot of time when she is out and about!

Hermione was born in 2015. We were thrilled when she made her arrival (a little earlier than expected)! Having a little girl was everything we hoped for!

Hermione instantly touched the hearts of all those around her, her beautiful smile instantly made everyone around her happy!

As she began to grow up in the first year, Hermione met her milestones, just like any other child and by her first birthday started walking, she had a few words in her vocabulary.

At the age of 17 months, Hermione had her first seizure. Never having witnessed a seizure before, we weren’t sure what had happened. Once she had been seen by doctors it was confirmed that she had had a seizure which had lasted well over 2 hours.

This was obviously very distressing to us as parents and so we began to keep a close eye on Hermione. She continued to have further seizures that were prolonged as well as absent seizures. Hermione was diagnosed in October 2019 with Epilepsy. During this time, we also noticed that Hermione’s speech was significantly delayed, and she was diagnosed with Severe speech and language difficulties.

This started the journey of testing for various epilepsy syndromes, but nothing ever resulted in a clear understanding of why she has epilepsy.

Hermione was then diagnosed with Autism (ASC) in December 2020. This diagnosis left us with more questions than we had answers for.

We were then referred for Genome sequencing genetic testing which has resulted in the diagnosis of the alteration to the gene WDR45.

Furthermore, we were referred to GOSH under Prof Manju Kurian, who is a specialist in her field. This gave us the opportunity to discuss what this diagnosis means and how will Hermione be affected.

This resulted in devastating news that Hermione has a neurodegenerative condition that affects her Brain. Essentially toxic iron proteins are deposited into her brain and this accumulation results in children affected with this condition with significantly damaging effects.

Most children with BPAN (Beta Propeller Accumulation Neurodegeneration) BPAN have developed epilepsy, intellectual disability, and delayed gross motor, fine motor, and communication development.

Several different types of seizures can occur, including febrile (triggered by fever), tonic-clonic (generalised muscle rigidity, convulsions, loss of consciousness), absent (short lapses in awareness), atonic (sudden episodes of weak muscle tone), or myoclonic (involuntary muscle spasms).

Children with BPAN typically present with significant problems with expressive language(vocabulary and producing speech), and difficulties coordinating movements (ataxia). Affected individuals may also experience neurodevelopment issues including repeated hand wringing, teeth grinding, sleep disturbances, and issues with communication and social interaction.

BPAN is a progressive condition, meaning it gradually worsens – this gradual loss of cognitive function and onset of dystonia (involuntary, sustained muscle contractions) and Parkinsonism (unusually slow movements, rigidity, tremors, postural instability, and a shuffling walking pattern), and dementia. Typically, this begins in late adolescence or early adulthood. Children with BPAN also have a reduced life expectancy.

This was obviously the worst prognosis we could have received and has left us as her parents, family and friends devastated! How could this even be possible?

This very quickly became a realisation that although we have received the worst news possible, we still have the ability to make a change and have something good come out of all the tears!

With your help we are raising money for a Charity that has been set up with other families whose children are also affected with this rare condition.

Hope for Hermione aims to raise awareness and money for research grants aimed at finding a cure or treatment to halt this condition through Gene Therapy.

Any support would be greatly appreciated.

Thank you!