Why sleeping could be fatal for Halton schoolgirl

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A couple took up marathon running to help their poorly daughter who has to be kept alive each night by a ventilator.

Maddy Birch is supported by a sleeping ventilator each night due to a rare genetic disorder.

Deborah and Matthew Birch

Deborah and Matthew Birch

The seven-year-old from Halton was diagnosed with Congenital Central Hypoventilation Syndrome (CCHS) in 2008. CCHS is a serious failure of part of the central nervous system, which can cause breathing problems and is fatal if left untreated.

There is no cure to treat CCHS and the only treatment is lifelong mechanical ventilation.

Mum Deborah said: “She is still a normal girl, she goes to St Wilfred’s School in Halton and is hitting all her milestones. To look at her you wouldn’t know there was anything wrong with her apart from when she is going to sleep.

“When she goes to sleep her body totally shuts down and she relies on a sleeping ventilator.

“When she is ill she can go a wrong colour.

“We have a carer that comes each night for seven days a week to watch over Maddy when she sleeps. It means we know she is safe while we go to sleep. However when we go away on holiday, me and Matthew take it in turns to watch over her.”

Her parents Deborah and Matthew Birch have strived to help other parents come to terms with the rare disorder ever since Maddy was born.

Deborah, 37, took part in this year’s London Marathon and Matthew, 37, ran in the Windermere Marathon. Together they have so far raised £28,000 for the group.

As well as their fundraising success Deborah posted an online blog shortly after Maddy’s birth to help other parents who may go through a similar experience.

Maddy was due to be born on November 23 2008 but was born 10 days earlier at Royal Lancaster Infirmary (RLI).

The birth went well until midwives realised she was not making any sounds and was blue in colour. Within seconds the couple were surrounded by medical staff.

Deborah said: “We started to panic and I remember shouting, ‘What’s going on?’ They put her in an incubator and wheeled her out of the room.

“We were in total shock. A doctor came back in and said that our baby was struggling to breathe and that they were helping her. At this stage they said that there was nothing to worry about as some babies can go into shock after birth.”

The couple were still in the delivery room clinging onto a picture of their daughter until eventually Matthew went to go and see his daughter in the incubator.

Deborah said: “He came back after what seemed like an eternity in absolute bits, shaking his head. I have never seen him so upset and I feared the worst, I thought she had died.

“My emotions were totally scrambled and I started to cry uncontrollably. She’d had a fit when Matt had been there but she was stable again.”

Many investigations followed, with transfers from the RLI to Manchester Children’s Hospital to Stoke Hospital.

Within those seven months Maddy had part of her bowel removed, underwent several genetic tests, was diagnosed with CCHS and eventually released from hospital.

Now Maddy leads a normal life and the couple want to continue to help others through the CCHS Support Group.

Their funds raised were made through a combination of sponsorship and money raised from a charity auction evening held at The Longlands Hotel, Tewitfield, in March.

Deborah said: “We have been totally overwhelmed by everyone’s generosity and support. I could not have done any of this without the love and support I constantly receive from my family and friends.”

The CCHS Support group provides support for and links families affected by CCHS throughout the UK.

It organises conferences for families to meet up and share experiences. These events are also an opportunity to invite CCHS physicians and researchers to share their insight. If anyone would like to donate please visit the justgiving page online at http://uk.virginmoneygiving.com/DeborahBirch.