Rare Disease Day: Hannah's Story
11-year-old Hannah lives with multiple rare conditions. Hear from Hannah's Mum, Becky, about their hospital journey and her advocacy work with our Office for Rare Conditions.
Hannah's Journey
'Hannah was diagnosed with a rare genetic condition called Inv Dup Del 8p when she was 20 months old after a delayed and frustrating diagnostic journey.'
'A few weeks later in November 2019, she spent 5 days on life support in the old Yorkhill following a horrendous febrile seizure due to RSV where she aspirated her stomach contents.'
'She had a settled few years until 2020 when her seizures became more frequent and she had over 1000 tonic clonic seizures in 2.5 years and spent a lot of time as an inpatient in Ward 3A (Neurology).'
'In 2021, Hannah spent 9 weeks in hospital due to severe seizures which were unresponsive to treatment, during this time the play service team were incredible finding toys that Hannah could enjoy while she was unable to actively play with them like sensory tubes and lighting as well as playing music in her room which she loves.'
'She lost all of her speech, ability to make sound, all her movement and was very poorly, she was then diagnosed with another ultra rare genetic condition SCN1B Both genetic conditions are linked to severe epilepsy – in Hannah's case, the rare epilepsy condition Lennox Gastaut Syndrome.'
'On February 23rd, she celebrated 12 months seizure free thanks to the dedication of the Neurology team at Glasgow Childrens Hospital finding the right combination of medications.'
pictured: Hannah celebrates 12 months seizure free.
'We are still waiting on her speech coming back but she is sparkly again and very vocal.'
'She has had several surgeries throughout her time attending the hospital including placing a feeding tube twice and dental repair work caused by falls during seizures. The resus team also know her by name.'
Parenting a child with a rare condition
'Parents and caregivers of those with rare genetic conditions are some of the greatest assets that healthcare professionals can have in their arsenal when it comes to treating people living with rare conditions.'
'We are experts by experience and have a community of other families affected worldwide.'
'It’s ok to grieve, grieve the life you thought you would have doesn’t mean that you don’t love your child or want what’s best for them, it’s different but there are silver linings and joy to be found.'
Becky, hannah's mum
'We are paving the path for other children and families who come behind us making sure that there is information and data out there to ease their diagnostic journey and treatment paths.'
'While individually rare, collectively rare diseases are common with 1 in 17 people being affected and over 350 million people worldwide.'
becky, hannah's mum
'There is so much cross over in our collective experience and we are a connected and empowered community which can only serve to improve the lives of others.'
The Office for Rare Conditions
The Office for Rare Conditions in Glasgow was opened in 2017 thanks to generous support from Glasgow Children’s Hospital Charity.
As the only Office for Rare Conditions in Scotland, the Glasgow project is leading the way to improve the management of patients and families with rare conditions
Hannah's Mum, Becky, has been part of the patient advisory group with the Office for Rare Conditions for over five years.
In this role, Becky has helped implement a number of projects designed to support rare disease families, most notably our "A Warm Hug" letter service.
Every time a family receives the news that their child has been diagnosed with a rare condition, they receive a letter from the Office for Rare Conditions in Glasgow titled “A Warm Hug”.
The letter, written by Becky, is designed to tell families that while their condition is rare, that doesn’t mean support has to be hard to come by.
The Warm Hug letter is just one way that charity funding helps families who have a child or children living with rare conditions.
The Theatres Enhancement Project
In 2018, Dr Alyson Walker, paediatric cardiac anaesthetist, NHS Greater Glasgow and Clyde, embarked on a transformative journey destined to reshape the landscape of paediatric surgery at the Royal Hospital for Children, Glasgow, and touch the lives of over 10,000 children each year.
Guided by Dr Walker’s vision and in partnership with Glasgow Children’s Hospital Charity, the million-pound initiative aims to create a more compassionate and empathetic environment for patients, their families and the dedicated staff who care for them.
Glasgow Children’s Hospital Charity has proudly committed more than £500,000 in funding for the ambitious project.
The centrepiece of the flagship project is an ambitious art installation by illustrators Laura Darling and Mark Faulkner.
Stories from patients, families, communities and staff were collected and brought to life in artwork that will flow throughout the entire Theatre Department.
Hannah and dr aly walker, paediatric cardiac anaesthetist, admire the new artwork.
Within each anaesthetic room, a family of 11 animals, chosen based on children’s feedback, is featured in the artwork.
As children progress through the department, they will be able to spot these animals, creating a comforting and familiar connection.
The zebra represents children who have rare conditions and their families.
martina rodie, The clinical lead for the office for rare conditions.
The zebra in the artwork represents children who have rare conditions and their families.
'Hannah is a thrill-seeker and loves to play with her sisters in the park. She absolutely loves the wheelchair equipment, especially the roundabout and adapted swings.'
becky, hannah's mum
Hannah plays on the roundabout with her dad and sisters.
Hannah playing on an adapted swing.
'It was a real honour and quite emotional to be a part of the project and have not only those affected by rare diseases included with the Zebra mascot but also to have children playing in wheelchair accessible playground equipment.'
"Seeing Hannah and other children who use mobility equipment represented in such a fun way is vital for inclusion.”
becky, hannah's mum
Hannah represented in the artwork by a child playing on an adapted swing.
'Before every surgery we give Hannah a go on the wheelchair roundabout in the hospital playground – she loves it and is a thrill seeker.'
'It was wonderful to be invited by Aly Walker and Glasgow Children's Hospital Charity to come and see the artwork at the hospital ahead of Rare Disease Day.'
ALY, BECKY AND HANNAH MET AT THE HOSPITAL TO SEE THE ARTWORK.