5 Questions with

Jemma Gregory

Founder and manager of children’s charity Space and mum of3

Please share a little background about your rare journey with us:

I had a relatively easy pregnancy until my 34 week growth scan when the sonographer noticed the ventricles in my baby’s brain were slightly enlarged which led to me having an in utero MRI and an amniocentesis. My waters broke early, the placenta started to fail and Isabelle was born at 35+5 weeks by emergency C-section, she weighed 4lb 7oz. Initially she was ok, but started to get tired with her breathing and was taken to PICU to help her breathe and it was here they found that her lactate level was high. She was transferred to Alder Hey Hospital at 4 days old and underwent numerous investigations including an MRI at just over a week old.

The MRI showed Isabelle had significant brain damage and we were told that they were 99 % certain Isabelle had a mitochondrial disorder. The neurologist prepared us that Isabelle would not come off the ventilator. It was the hardest, saddest day of our lives and we quickly had Isabelle baptised and were able to hold her with all her wires. However, the following day Isabelle came off the ventilator and was breathing for herself and a day later transferred from intensive care to the neuro medical ward. We realised then she is going to be a little fighter.

In April 2012 when Isabelle was 7 months old we got a diagnosis, Pyruvate dehydrogenase deficiency. We felt numb, we had heard the worst news when she was born, but still clung on to a slight hope that ‘they got it wrong’. This confirmed our nightmare was a reality. We were told that Isabelle was at the severe end of the spectrum and the very limited treatments that were available were unlikely to have any impact on her development or life expectancy. We were told she was unlikely to live to the age of 2. But she is 11 now and makes us proud every single day, a true fighter.

What does a typical day in the Gregory household look like?

Day and night often become blurred in our house as Isabelle sleeps very little. Four hours is now considered a good night’s sleep for her (and us) and Isabelle is dependent on us for all her care needs. She is fully tube fed and cannot mobilise, therefore she needs an adult with her at all times. Isabelle needs regular medication, ketone blood testing, feeds making (she’s on a complicated ketogenic diet), changing and monitoring for changes in her condition. We have carers that support Isabelle which is great and gives us some respite but with that comes the awkwardness of having people in your home, which takes some getting used to.

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

The support from parents of children with the same condition has been invaluable for us. Although her specific mitochondrial disease is very rare we are lucky that since she was born a charity has been set up for this (see link for the Freya foundation) and we now have an online support group and an annual family meet up. Having parents that are on the same journey is amazing, they are my ‘go to’ experts when things aren’t great. I also find that being one step ahead helps, there are things I know Isabelle will need and everything like adaptions, care, equipment, transport etc takes time so knowing what to expect and starting processes early has helped, I always think if the time comes and we don’t need something it’s better than waiting and doing without when it’s needed.

What do you do for yourself?

I struggle for time for myself, with 2 other children and working full time. Meeting friends for coffee is lovely, and I get a lot of work satisfaction (sad I know!) so often my work is my escape!

What drives you?

After Isabelle was born I set up a local charity to provide support to other parents of children with additional needs, including an accessible play space. This grew out of feeling unsupported after Isabelle was born, and recognising that there were few accessible places we could visit as a family. Sleepless nights and having to give up work to care for her gave me the time and I felt I needed to do something to change the situation for others (and myself!).

Links: https://spacecheshire.org https://www.thefreya foundation.co.uk https://www.thelily foundation.org.uk

Think back to when you were a child. How important and how fun it was to be part of something communal – a bunch of mates from your street, a sports team, a school class –somewhere beyond family where you belonged and thrived.

At Cambridge Rare Disease Network (CamRARE) we recognise that for many kids and young people living with rare diseases (RD), accessing those communities and that sense of belonging can be extra tough.

So, we’ve created our own little RD ‘tribe’ in the Eastern region. We call our ‘gang’ Unique Feet, a community that welcomes all kids and their families, irrespective of their rare condition for friendship, connection, acceptance and support.

We offer regular, super-cool stuff from crafts and dance to horseriding and outdoor pursuits. All activities are fully inclusive and accessible. Unique Feet brings together kids and families who understand each other’s shared challenges but who also know how important it is to celebrate their triumphs. This shared experience empowers them to raise one another up to achieve hopes and dreams that might be so much more difficult to achieve alone. Visit

Supported by:

SPRING SPLASHES www.amazon.co.uk www.regatta.com www.alderhey.nhs.uk www.cdhi.org/cdh-support www.cdhuk.org.uk

RARE CHANCE, LUCK & SHARKBITES!

READING TO DREAM www.son-stories.com

ONE OF A KIND www.camraredisease.org/uniquefeet www.rarechromo.org

WHAT WE’RE INTO – REVIEWS www.macmillan.org.uk

THE SCIENCE OF A RARE DISEASE www.col4a1.net/en www.gouldsyndromefoundation.org www.ophthalmology.ucsf.edu/gouldlab

Kate de Winton Photography in Farndon, England

TRAVEL www.disneyholidays.co.uk www.disneylandparis.com www.samebutdifferentcic.org.uk/raritylife

BEYOND THE DIAGNOSIS www.beyondthediagnosis.org www.havashealthandyou.com www.h4bboston.com

RARE NAVIGATOR SERVICE www.samebutdifferentcic.org.uk/rarenavigator

SAY THEIR NAME www.careforthefamily.org.uk www.childbereavementuk.org www.tcf.org.uk www.thegoodgrieftrust.org www.clairehouse.org.uk

MANAGING BEHAVIOURS www.cdls.org.uk www.cerebra.org.uk www.contact.org.uk

5 QUESTIONS WITH www.thefreyafoundation.co.uk www.thelilyfoundation.org.uk www.spacecheshire.org

CAMBRIDGE RARE DISEASE www.camraredisease.org