5 Questions with Jenny Rawling

co-founder of The UK Infantile Spasms Trust (UKIST)

Please share a little background about your rare journey with us

Our journey with rare epilepsy began in January 2015 when our seven month old daughter Faith started to display some odd behaviour. We had first noticed she was out of sorts over the Christmas holidays – I’d had hopes of handing her over to doting aunties at our family Christmas but she was withdrawn and clingy. She was also ‘refusing’ to sit, having previously been quite happy in supported sitting, and wanted to be held all the time. There are a hundred reasons why a baby can be grumpy and we didn’t think too much about it. In January she became fussy when feeding and would repeatedly unlatch and then cry. She then had an episode in the bath where she repeatedly flung her arms forward and her eyes rolled. We managed to video this and sent it to a couple of doctors in our family circle, who replied very rapidly telling us to take her to hospital. We were so lucky that because of that insight we presented her with that suspicion and were passed upwards to the A&E consultant who arranged admission and an emergency EEG – she was diagnosed and on treatment for infantile spasms /West syndrome within 24 hours of us filming her.

The first weekend in hospital was the loneliest I have ever felt – my husband had to return home to care for our older children, and we were found a cot (and a hard chair) on a renal ward, where none of the staff knew anything about spasms. I was prevented from googling as you couldn’t purchase access to hospital Wi-Fi at the weekend, but one of our family found a patient information leaflet on infantile spasms. Reading it, all my hopes or assumptions about the future drained away – the outlook for her sounded terribly bleak, and the figure that one child in five would die before their fifth birthday was devastating. Once we got home we searched for positive stories and support – and found help from online groups based mainly in the USA but nothing in the UK. Those groups were a lifeline through a gruelling treatment process, a relapse, adrenal insufficiency as a consequence of her treatment and our subsequent worries about development.

What drives you?

My way of coping with the diagnosis was to read up on the condition in scientific journals and spend a lot of time in the support groups. I came into contact with other UK families and we set up a UK Facebook group, as we found that a lot of the experiences – particularly of support after diagnosis –were quite different to the US experience. From that group I became aware that many families were experiencing unnecessary delays in diagnosis because of a lack of recognition of the need for rapid referral. A group of parents produced a YouTube awareness video and over a period of a year mulled over the idea of setting up a charity to provide the support, medical education and awareness we felt was lacking in the UK. The first time any of us met face to face was at our first AGM and the charity was registered in 2017.

How does UKIST work?

UKIST is first and foremost about trying to ensure that every child with infantile spasms has the best possible outcome and that their family are supported through what is inevitably a very difficult time. We work alongside medical professionals to produce medical education and contribute to research that will hopefully improve diagnosis and treatment in future. One of our most significant achievements of the last few years was getting infantile spasms recognised as a neurological emergency within the NICE guidelines, so that children with suspected spasms must now be referred to a specialist within 24 hours. Families are offered a network of support that includes rewritten (and more positive) point of diagnosis information, ongoing peer support, face to face family fun days, online therapy and information and a grant scheme to plug the gaps in funding for equipment or therapy for affected children. UKIST is entirely run by volunteers with personal experience of infantile spasms in a family member – so our provision is guided by the unmet needs of our community. The support and understanding of someone who has been through a similar rare journey is priceless.

If you could offer any advice to other families on their own rare journeys what would it be?

Having a rare diagnosis can feel lonely – it’s been so therapeutic for us to connect with others. Despite a very positive outcome for my daughter I’d never wish this journey on anyone, but a lot of wonderful friendships with people I’d otherwise never have met have resulted. Local parents are the best source of information about local resources so it’s worth reaching out to special needs groups – nearly everything useful I found out about from ‘unofficial’ sources.

What do you do for yourself?

As a working mum of three I don’t have a lot of spare time! I learned Makaton as part of helping my daughter to communicate at the point her speech was delayed and I now sing (term applied loosely) in a Makaton choir, and as well as volunteering for UKIST I help in the local primary school listening to children read – they always make me laugh.

Rare Navigator

Help when you need it

At Same but Different, we strive to make a positive difference to the lives of those affected by rare diseases. Through our Rare Navigator service, we offer emotional and practical support and information to individuals, their families and all involved in their care, from the point of diagnosis and beyond.

At Same but Different, we strive to make a positive difference to the lives of those affected by rare diseases. Through our Rare Navigator service, we offer emotional and practical support and information to individuals, their families and all involved in their care, from the point of diagnosis and beyond.

Our individualised support and advocacy service aims to ensure that each family is able to access the level of support they require to meet their needs. Our team can help you to access beneficial services and equipment, and can provide helpful information, tools and resources that encourage understanding of rare diseases and how it may affect your family.

Our individualised support and advocacy service aims to ensure that each family is able to access the level of support they require to meet their needs. Our team can help you to access beneficial services and equipment, and can provide helpful information, tools and resources that encourage understanding of rare diseases and how it may affect your family.

We work closely with national and local health and social care providers to ensure that our families are informed and have access to optimum care, treatment and services that can assist daily life and increase opportunities for independence and social interaction.

Our support area of North Wales will be expanded for the time-being and if we can't help you, we will put you in touch with our colleagues in disease specific support organisations. Katy Parry has a personal and professional understanding of the complexities and difficulties that families face and can support you in navigating your way through your rare disease journey. Some of the ways she supports families include:

Our support area of North Wales will be expanded for the time-being and if we can’t help you, we will put you in touch with our colleagues in disease specific support organisations. Katy Parry has a personal and professional understanding of the complexities and difficulties that families face and can support you in navigating your way through your rare disease journey. Some of the ways she supports families include:

•Home visits (whenever necessary)

• Home visits (whenever necessary)

•Supporting families to understand the choices of care that may be available

• Supporting families to understand the choices of care that may be available

• Helping families to access their local healthcare services

•Helping families to access their local healthcare services

We work closely with national and local health and social care providers to ensure that our families are informed and have access to optimum care, treatment and services that can assist daily life and increase opportunities for independence and social interaction.

For more information, please contact us on enquiries@samebutdifferentcic.org.uk or call 01352 757007

For more information, please contact us on enquiries@samebutdifferentcic.org.uk or call 01352 757007

•Liaising with local health and social care teams, which may include your Occupational Therapist, Speech and Language Therapist or Social Worker

• Liaising with local health and social care teams, which may include your Occupational Therapist, Speech and Language Therapist or Social Worker

•Working with schools and teaching staff to provide information to support children in attending and achieving at school

•Accompanying individuals and families to clinic appointments or meetings.

• Working with schools and teaching staff to provide information to support children in attending and achieving at school

• Accompanying individuals and families to clinic appointments or meetings.

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