Stoke-on-Trent mum Rhiannon Craggs is hoping that taking part in a pioneering NHS project at University Hospitals of North Midlands will provide some answers about the mystery health issues faced by her young children.
Robin, aged 9, and Lewis, aged 6, both have problems with their eyesight, slow growth and also suffer with digestive issues and food allergies. They have both been fed through tubes in the past as they have severe gastric reflux which needs controlling with medication.
Both youngsters also have low core muscle tone and joint hypermobility which causes pain and instability.
The medication, therapy and number of hospital visits that managing these issues requires impacts on their day-to-day lives and prevents them from taking part in many of the normal activities other children take for granted.
Some of the health problems have been present from birth and some became apparent later on, but due to the rarity of the combination of their symptoms, the children’s condition does not currently have a name or a diagnosis.
The family are hoping that by taking part in the nationwide NHS 100,000 Genomes Project, the first of its kind in the world, they may find out what is causing their children’s problems.
“I feel that by taking part in the project we are getting the best chance of getting a diagnosis for our children which we hope will improve their treatment options in the future,” said Rhiannon, who also has an older child who is unaffected.
“I find it hard to not know what my children’s condition is. Getting a diagnosis for us, as parents, would mean that we are better able to understand our children’s condition and what their future health could look like.” Read more