Thanks for taking the time to visit my JustGiving page.

As you may be aware, our little boy Arthur was diagnosed with Beckwith Wiedemann Syndrome (BWS) when he was just one year old. BWS is a rare genetic condition that is present at birth, caused by abnormalities in a specific chromosome. BWS often presents as a collection of symptoms such as

-Increased height and weight at birth or in childhood.

-Asymmetry of growth, for example one arm or leg larger than the other (hemihypertrophy).

-Large tongue size (macroglossia).

-Low blood sugar in the first few days or weeks of life (neonatal hypoglycaemia).

-Umbilical hernia or other abdominal wall defect, for example exomphalos where the intestines and sometimes other organs such as the liver remain inside the umbilical cord but outside the abdomen at birth.

-Some children with the condition are at risk of Wilms' tumour of the kidney.

Genetic testing is required to diagnose the syndrome and can take many months to confirm due to the complexity and specialist nature of the tests. To that end, a lot of people go un-diagnosed and miss out on the correct treatment.

After almost a year of chasing tests and specialists Arthur’s condition was diagnosed and he was able to receive good care from the NHS. This typically consists of scans every three months and consultant appointments every 6 months to identify any complications early. Arthur has thankfully been able to live a normal life and in no way does living with BWS hold him back.

We wanted to give something back, to help ensure that another family can get their diagnosis and the correct treatment. We have gathered a group of family and friends and have decided to challenge ourselves and walk the Yorkshire 3 peaks whilst raising as much money for Genetic Alliance UK as possible. Further information about BWS can be found at

Beckwith-Wiedemann syndrome (BWS) | Great Ormond Street Hospital (gosh.nhs.uk)

Helping families affected by genetic, rare and undiagnosed conditions | Genetic Alliance UK

We would appreciate any help in reaching our total, no matter how much or little you are able to contribute, every little helps.

Beth and Stuart

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