Rett UK

“Saving Rosie”

Becky Jenna, 51 from East Sussex, tells us how Rett UK saved the life of her daughter, Rosie, 22

Life has been tough for Rosie, as a child with Rett syndrome, but from the day of her diagnosis at 18 months old, I’ve been determined to achieve the best for her. That’s not to say we – my then-partner and I – weren’t devastated by the diagnosis. Rett is such a cruel condition. While in many ways, Rosie looked like any normal baby, we knew that she would experience developmental regression, and ‘unlearn’ many of the skills she had acquired. She wasn’t going to be the child we thought she would be. All the things we imagined we’d be doing with her were simply not going to happen and for a while I just felt completely numb.

But, bit by bit, we came to terms with the terrible news we had received and made the decision not to let Rosie’s condition affect our lives.

Back then knowledge was still scarce; the syndrome only entered the medical books in the UK in 1985, and little was known about it 11 years on. However, a friend put us in touch with the organisation Rett UK and the support we received changed everything.

We were introduced us to several other local families of children with Rett and Rosie started school with their girls – our families formed a close network.

We learnt how to manage Rosie and keep her well and how to cope with her scoliosis and feeding problems, as Rosie is tube fed but eats orally as well.

When I was considering another pregnancy, I was told that a recurrence of Rett in the family was less than one per cent – and I went on to have two healthy sons, Elliott, now 19, and Matthew, 15, although sadly my relationship broke up along the way.

In 2007 I became a trustee for Rett UK, partly because I knew this would allow me access to the latest research and developments. People aren’t as isolated now because of social networks but when Rosie was little, if there hadn’t been families locally dealing with Rett syndrome then things could have been very difficult for us. Also, if your child goes to a special school you don’t get to meet other parents at the school gate and it can be very daunting.

Then, in August 2011, Rosie started with a persistent cough and began to have cluster seizures, asthma and stopped eating orally. Her circulation was bad and she had no vitality. She was rapidly going downhill. At one point Rosie suffered over 100 seizures in less than 20 hours and we ended up in hospital for a week.

She was given anti-convulsive drugs but they didn’t seem to work. Then, our absolute worst fears were realised when we were told by the hospital there was nothing else they could do and to take Rosie home and make her comfortable – in other words, wait for the end. We took her home – but not to sit and wait. I recalled a speech I’d heard at a Rett UK family weekend about a child with Rett who had suffered from an autonomic function affecting the central nervous system and unconscious controllers, such as breathing and heart rate. She eventually had chronic respiratory alkalosis due to constant  hyperventilating. The talk had been given by Dr Peter Julu, an expert in autonomic dysfunction who worked between the UK and Sweden. I contacted him and told him that Rosie was being treated for end of life, and he told me that she needed a re-breathing mask as she was burning up too much CO2 and this was causing the episodes, seizures and the cough. We saw him a few days later and Rosie was given the mask – which works like a high tech paper bag. Within a week she was eating again and the cough and asthma had gone.

The mask, which costs less than £70, saved Rosie’s life. She still uses it for five hours a day but Dr Julu is hoping to develop a sleep tent, which will create a CO2-rich environment for her to sleep in so she will wake with a higher level of CO2 to get her through the day. I fervently believe that if I hadn’t been present at the family weekend to hear Dr Julu’s talk then Rosie wouldn’t be with us today. It was a pivotal moment, not only for Rosie but for our whole family – within six months I had given up my job in childcare and became CEO of Rett UK.

Our focus at Rett UK is very much on family support, offering regional support to help a wider network of families. We currently support over 1,100 families affected by Rett Syndrome in the UK and intend to increase our reach through GPs, paediatricians and special schools, who need up-to-date information. We decided to develop more local support so that the people working with families on a day-to-day basis are better informed about Rett. There are now family weekends every five years in different locations so more families can benefit. A regional event costs £5-6,000 and engages with a greater number of people, including sibling workshops for children who find it difficult to open up when they feel they aren’t coping. It’s more cost effective and we invite professionals to come along for one-to-one sessions with parents.

The emphasis is on how important support is when you’re living with a rare condition with up-to-date, accurate information that could well be life-saving.

As for Rosie – she attended a special school on a part-time basis and then a special college until she was 19. Now at 22, she lives at home and is cared for by a team of personal assistants during the week, while I care for her at the weekends. I treasure every moment I have with her, as I know just how precious her life is.

TOTAL RAISED: £10,665

THE FACTS – Rett UK

  • Rett UK supports families of children with Rett syndrome, a severe genetic neurological disorder. Its goal is to offer information and practical advice to assist the whole family,
    not just the child with Rett syndrome.
  • Over 1,000 families benefited from Rett UK in 2016, an increase of 57 per cent on the previous year.
  • The professional family support team has over 40 years’ experience in providing services to people with disabilities, during which time they have met hundreds of children who are living with Rett syndrome.
  • Head over to rettuk.org to find out more information.

BIG GIVE UPDATE

The money raised will fund regional hubs in three areas of the UK where families affected by Rett syndrome can meet with key professionals and advisors during a two-day event. This will increase awareness, knowledge and education and improve local support networks for families.

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