The story of Eloise
My son Beau was born at 29.5 weeks, due to an unrelated maternal ligament rupture and 3.5 litre blood loss. Beau was born to save my life. As well as being premature, Beau was diagnosed with CCHS, Hirschsprung’s Bowel Disease and Chronic Lung Disease and stayed in hospital from birth on the 22nd September 2021 until the 27th June 2022.
CCHS, or Congenital Central Hypoventilation Syndrome, is an ultra-rare condition with only around 2,500 people diagnosed worldwide. The most drastic symptom of CCHS is the inability to regulate breathing when asleep. There is no cure for this life-long, genetic condition and the standard treatment is for children to be connected to mechanical ventilators to breathe for them, when they sleep – or when they are tired or unwell.
They need constant monitoring to ensure the ventilator connection remains secure and the breathing is stable with the correct levels of oxygen and CO2. A parent, carer or nurse must watch and monitor children with CCHS all night and this poses a heavy toll on families.
Around 80% of people with CCHS have a tracheostomy to ensure the most efficient and effective connection to a ventilator and this comes at a high price too as it needs constant monitoring. Despite all this, Beau is an incredibly happy, adventurous and bright toddler who loves face-painting, eating and generally running around with his older brother Harrison who is an incredibly supportive big brother. I am a Trustee of a charity set up just 2 years ago, called Keep Me Breathing, which was formed to develop and fund new treatments for children like Beau so they can lead more fulfilling and independent lives. The charity has raised a significant sum and work is underway by a team of medical engineers who are developing a new diaphragm pacing device which aims to replace mechanical ventilation. We still have a long way to go, but we are committed in our mission to transform the lives of people with CCHS.