Staff at the Royal United Hospital have been thanked by the mother of a three-year-old boy born with a rare genetic disorder for helping to diagnose his condition.
Magdalena Watling’s son, Hugo, has Angelman syndrome, a neuro-genetic condition that affects the nervous system and causes severe physical and learning disabilities.
Magdalena, a former RUH midwife and current Birth Trauma Therapist from Peasedown St John, said she first realised something was wrong a few weeks after Hugo was born.
She said: “When Hugo was born he seemed healthy and there were no complications but after about five weeks we noticed he was having problems feeding.
“He was being sick a lot and had lost around 20% of his weight so we were really worried. Nothing we could do seemed to help.
“He also wasn’t behaving like you would expect a baby to. He wouldn’t let us cuddle him or hold him – he would arch his back and scream. We knew something wasn’t right.”
Due to his age and condition, it wasn’t possible for Hugo to have a successful MRI scan at the RUH until he was nine months old.
The scan showed that there were some abnormalities to his brain, so Hugo was later given a genetic test that concluded he was missing a piece of chromosome 15, diagnosing Angelman Syndrome.
Magdalena said: “We were very fortunate to meet Dr Tobias Hunt at the RUH who was fantastically patient and understanding and had an awareness of rare genetic conditions, enabling him to diagnose Hugo when he was aged one.
“The support we had from not only Dr Hunt but so many other staff at the RUH over that first year of Hugo’s life was incredible and I’m so grateful. All of the different therapists we came into contact with were also excellent, so helpful.
“Not all families are so fortunate to meet a doctor with such an awareness of rare illnesses and receive such an early diagnosis. Better awareness of rare genetic conditions across society can make a huge difference to all of those affected and in setting goals and expectations for the future.
“That isn’t to say life is easy, but with the help of charities like AngelmanUK and the wonderful skills and knowledge of the staff at the RUH there is now a wealth of information about disability and rare genetic conditions and no one should be feeling alone.”
Magdalena, who is married to husband Daniel with whom she also has an eight-year-old daughter, Rosamund, said that despite the difficulties Hugo faces, he is a “big character” and is already popular with his friends at pre-school.
She said: “He is a very happy, smiley boy, which is wonderful to see. He adores water so loves going swimming and it’s always hard to get him out of the bath at bathtime!
“He’s a real explorer too and is quite nosy – he always wants to know what’s going on and enjoys annoying his sister.
“He loves being around other children too and has already made some really good school friends.
“He’s a real character, a lovely sweet boy, and we all love him to bits.”