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October 2, 2018

‘I had a gut feeling something was wrong’

By Faye Greenwood

*Content sponsored by Shire

A child’s health, well-being and safety are incredibly important to parents. But if you had a gut feeling your child’s frequent ear infections, colds, runny noses, and other symptoms weren’t typical, who would you turn to for advice?

Concerned parent: Brittany

‘Hunter was my first child. He was everything a mother could want, but he was always sick. He had an umbilical hernia that never went away, a constant runny nose and ear infections from the age of two months. We were at the doctor’s every month. Then we had Kingston, who also had frequent runny noses and ear infections from around two or three months. They were chronically ill.’

Referring pediatrician: identifying Hunter syndrome

‘I met Hunter and Kingston when they were 25 months and 12 months respectively. By that time their symptoms had been treated in isolation: hernias with surgery, ear infections with antibiotics and ear tubes. These common childhood complaints combined with Kingston’s distinctive facial features led me to suspect the boys could have Hunter syndrome, so I referred them to a geneticist.

‘Hunter syndrome, also known as mucopolysaccharidosis II (MPS II), is a rare disease affecting 1 in every 162,000 new born babies, most of whom are boys. It is a genetic disorder caused by a missing enzyme, which results in a build-up of sugar molecules throughout the body.

‘Children with Hunter syndrome present with a variety of signs and symptoms, however, these generally occur as a recognizable ‘cluster’ of childhood illnesses.  Common symptoms that may occur around 18 months include:

  • Large head and brow, broad nose, thick lips
  • Chronic runny nose
  • Recurrent ear infections
  • Enlarged tongue, tonsils, adenoids
  • Enlarged abdomen
  • Hearing loss
  • Hernia
  • Joint stiffness
  • Developmental delay

Teacher: school life with Hunter syndrome

‘The boys are often off school to attend doctors’ appointments, but they are social butterflies, especially Hunter. He’s the Mayor of the school because he has to stop and talk to everyone in the hall and everyone knows him.’

Brittany: family life after diagnosis

‘I found pictures of children online who looked like my boys and had a gut feeling something was wrong. Hunter and Kingston were diagnosed with Hunter syndrome at 2 years and 14 months, respectively. I was in denial; it’s hard to believe until it actually happens to you. I saw it as a blessing that we caught it so early just by the doctor looking at my boys.

‘You have high hopes and dreams for your children, but their diagnosis has changed that. They can’t be football stars or whatever because we don’t know if we have tomorrow, let alone five years. I could picture my life another way, but I wouldn’t change my children for anything. It’s their love for me that drives me, and there’s nothing a mother wouldn’t do for her kids, and we’re just going to make the best of what we have.

For more information about Hunter syndrome, visit www.hunterpatients.com