Reverse Rett

Emily Marsden from the West Midlands tells us how Reverse Rett have helped provide hope after her daughter Daisy, three, was diagnosed with Rett Syndrome

Three years ago, Dave and I were so excited when our beautiful non-identical twins, Martha and Daisy were born. My pregnancy was normal although the girls were born slightly early at 37 weeks – as is common with twins. While Martha fed normally, Daisy didn’t take to breastfeeding and it was discovered she didn’t have the sucking reflex that babies normally have.

I wasn’t overly worried as people kept telling me twins are often very different and not to compare the girls. Also, at birth they weighed just over 5lbs each so I made allowances as Daisy had to be tube fed until she took to breastfeeding at around one month old. Tests revealed Daisy had low muscle tone, but the doctors said this could improve so I just assumed she needed to get stronger and everything would be fine. Daisy was always the smaller and quieter of the twins; she didn’t cry like Martha, she slept more and was generally more placid. We put this down to their different personalities and the health visitor agreed.

However, when, at seven months’ old Daisy couldn’t sit up at all the health visitor expressed concern. She referred me to my GP as a precaution. I’ll never forget that appointment, the GP shocked Dave and I by bluntly suggesting Daisy may have some form of brain damage – he even mentioned cerebral palsy. He referred us to a specialist but we had to wait eight long weeks to see a paediatrician at Bristol Royal Hospital for Children. It was a tense time worrying how we’d manage if Daisy did indeed have cerebral palsy. Fortunately, the paediatrician we saw was a specialist in the condition. He told us straight away that Daisy didn’t have it – in fact, he thought it was highly unlikely she had any kind of brain damage. We were so relieved when he discharged us and told us to stop worrying. We desperately wanted to believe this good news and carried on as normal for some time. But it became increasingly difficult to ignore the differences between them. AT their first birthday party surrounded by friends of a similar age, it became undeniably clear that Daisy’s development was impaired. Martha toddled round – having begun walking at ten months old – while Daisy still showed no signs of sitting up unaided.

A few months later we returned to see the paediatrician and a series of tests revealed Daisy had Global Developmental Delay. This meant that most areas of her development were behind and an evaluation would be needed to get a better sense of what might be the cause. A raft of tests were carried out to see if anything genetic could be pinpointed. A test for muscular dystrophy because her muscle tone was still so low thankfully came back clear, but we had longer to wait for the results of the genetics test. Then, just after second birthday, the paediatrician told us the tests showed Daisy had Rett Syndrome. We were deeply shocked. We’d tried to be optimistic and not compare the twins but the word ‘disability’ was hard for us both to accept and it was frightening to even contemplate the future.

The day after the diagnosis we searched the internet and found Reverse Rett. I was drawn to them because they are working towards a cure and I felt they could offer us some hope for Daisy’s future. I called them and bombarded them with questions! Ever since that day they have been there for us – we always come off the phone feeling reassured and, most importantly, that we are not alone. All members of the team have personal links to Rett Syndrome through family members and are up-to-date with progress in research. In March last year, The Rett Disorders Alliance of the UK brought together the first meeting of a Working Group for Rett Disorders to improve and expand clinical provision for Rett Syndrome sufferers in the UK.

They also offer a parent mentoring scheme, Parent 2 Parent, where they match experienced parents of children with Rett Syndrome with those recently diagnosed so that they share essential advice and tips. This has been a great comfort to us and we have become great friends with our mentor family.

The girls are three now – and while Daisy can finally sit up by herself, she’s not quite standing independently but it’s possible that she will in the future. In fact, we are hopeful that one day she may even walk. While many children with Rett cannot walk, some learn to walk in late childhood or early adolescence.

The way in which the illness presents itself is often misleading and people assume there’s lots of brain damage, but this isn’t the case with many sufferers. Research has proved that girls with a Rett Disorder have more understanding and awareness and a better comprehension of language than was originally thought. Now Daisy attends The Phoenix Centre in Dudley, a specialist nursery twice a week. It’s a charity and our placement is funded through the local council. There are six children in the group and they all have one-to-one care to provide a happy and encouraging learning experience regardless of a child’s disability.

Martha is beginning to understand that Daisy has different needs and can be very loving towards her sister although, as for all siblings of children with disabilities, it can be hard for her too. Daisy recently developed epilepsy – which is common in children with Rett Syndrome – and has been admitted to hospital several times due to seizures. Luckily Dave works from home as an animator and can care for Martha if I have to be in hospital with Daisy. Shortly after Daisy was diagnosed we decided to move from the South West to live nearer to our families in the West Midlands, we needed their support in order to have the chance to spend time with the girls individually. Both sets of grandparents are amazing. We have allocated days when they will take one of the girls and I will look after the other. I’ve recently returned to work part-time as a mental health nurse – it’s been tiring but I think it’s good for me to have a break from everything at home and focus on my work, which I really enjoy.

Much of my peace of mind comes from knowing that Reverse Rett are always there for myself and Dave if we need them, and knowing that they are advocating for girls with Rett Syndrome, increasing awareness of the condition and painstakingly looking for a cure.

UPDATE

Money raised in the Candis Big Give will be used to fund the work of MECP2 Gene Therapy Consortium for six months.

Total Raised: £121,341

THE FACTS

  • Reverse Rett is a UK medical research charity working to speed up treatments and a cure for Rett syndrome, a rare genetic disorder that affects about one in 12,000 girls each year. It is only rarely seen in males.
  • The disorder affects brain development resulting in severe mental and physical disability. Children are unable to speak, walk or use their hands and breathing problems, feeding tubes, seizures, anxiety, gastrointestinal and orthopedic issues are common. Research has shown that girls with Rett do not have brain damage – but they are locked in a body that cannot obey signals from their brain
  • The charity intensively fund cutting-edge research focused on driving science from the lab into the homes and lives of children with Rett Disorders.
  • For information visit: reverserett.org.uk

 

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