Norwich mum tells of heartbreak at toddler’s rare condition
A Norwich mum has spoken of her heartache after discovering her son had a potentially fatal rare syndrome – and that she carried its genes.
Two-year-old Preston Quinton looks like a happy little toddler with his curly brown hair and toothless smile. But he has already had to undergo two major head operations and doctors currently do not know if he will be able to run, walk or jump later in life.
Preston has a rare bone disease called hypophosphatasia (HPP), which means his bones do not absorb important minerals such as calcium and vitamin D. It means he has abnormal joints, expanded ribs, and his long bones are bowed.
Before doctors diagnosed Preston with HPP, his parents, Janice Betts and Lee Quinton, had already been told he had an abnormally-shaped skull, a condition known as craniosynostosism, and he had to have surgery due to severe pressure on his brain. The couple, who live in Hall Road, have since been told they are both genetic carriers of HPP and if they have any more children, they have a one in four chance that they will be born with the disease.
Miss Betts said she wanted to raise awareness of the condition and to raise funds for the hospitals which have helped her son. The 29-year-old, who has an older son, Kiran, seven, from a previous relationship, said: 'It was heartbreaking knowing I had to put my son through an operation, but if I didn't, he would be at risk of brain damage or even death.
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'I thought his craniosynostosism was the only thing so it was a real shock to learn he had something else. I worried about everything – what he was going to look like with hypophosphatasia and craniosynostosism because he was losing teeth; whether he would lose his adult teeth; would it affect his quality of life – I was distraught.'
Miss Betts said Preston had shown no signs of illness until he was eight months old. It was then that the couple started to notice something was wrong – he was not gaining weight and he was a poor feeder. At first medics thought he had food intolerances, but then his parents noticed veins appearing on his head.
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Doctors at the Norfolk and Norwich University's Jenny Lind Children's Department diagnosed him with craniosynostosism and he was rushed to Great Ormond Street Hospital for life-saving surgery. Weeks later, he was diagnosed with HPP and was the first child to ever be seen at Great Ormond Street Hospital with the disease.
Miss Betts researched the disease, for which there is a 50pc chance of death within the first year, and found an expert at Birmingham Children's Hospital where Preston has received treatment. It is now hoped Preston will be part of a pioneering trial in Germany to help treat the condition.
Miss Betts, who looks after Preston full time and whose partner is a brick-layer and builder, said: 'We don't know what's to come; we can't say. He has physiotherapy and speech therapy. We don't know what will happen with this trial and how long the treatment will last. We've got to take little steps at a time. I would like to say a big thanks to everyone at the N&N, Birmingham Children's Hospital, Addenbrooke's and Great Ormond Street.'
To donate funds to the Great Ormond Street Hospital, go to www.gosh.org or to donate to Birmingham Children's Hospital, go to www.bch.org.uk
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