Listen to parents: Our 'he'll be right' health system fails kids with rare diseases

Thursday, 31 August 2023

Alicia Haszard with her son Ben, 7, in August 2023. Ben has Glycogen Storage Disease Type 1A.

Alicia Haszard is a Kiwi mum whose young son was diagnosed with a rare condition.

OPINION: I vividly remember the first time I felt there was something different about my son Ben. We were at the playground, watching him run around like all 3-year-olds do, when I noticed how much shorter he was compared to other kids his age.

In the pit of my stomach I knew something was wrong. I went home and looked at his Plunket books and then measured his height. He had hardly grown in an entire year. Ben had always been a sickly child, and was our firstborn, so we had nothing to really compare it to, but call it mother’s instinct. I knew this was more than just being “sickly”.

What unfolded was a long road of uncertainty full of specialists and hospital visits. At first it was Ben’s height, but then his belly began to grow while his limbs stayed tiny. He looked like a pregnant toddler and was finding it really hard to balance and move around. However, we were always told he was fine and that some kids just look that way.

Ben, pictured at the beach aged 2.5, was much shorter than other kids his age, says mum Alicia Haszard.

We were finally referred to a gastro specialist as Ben had severe diarrhoea, and we thought this may be the cause of his enlarged stomach and delayed growth. At this point he had only grown 1.5cm in 2 years. But nothing conclusive came back. Again we were made to feel like we were imagining things, or it was just “normal” and that same old adage, “he’ll be right”.

We were then passed on to the metabolic team at Starship Children’s Hospital. The team there ordered genetic testing, and after four months the results came back from America. We finally had a diagnosis for Ben: Glycogen Storage Disease Type 1A (GSD1A) – an inherited disorder that impairs the body's ability to break down glycogen, a stored form of sugar.

Relief flooded in, knowing that our relentless battle now had a name. But there were huge frustrations. We had suspected this had been his diagnosis for some time and asked multiple specialists; they had all said no. This was a bitter pill to swallow. Next we were hit with fear. The knowledge that Ben's life depended on our ability to understand and manage this condition was incredibly frightening.

Ben, pictured in hospital in December 2021, is one of only three children diagnosed with GSD1A in NZ.

GSD1A is extremely rare, and Ben is one of only 3 children in New Zealand diagnosed with it. Once Ben's body uses up all his energy from food he cannot use any extra energy source to function. Without energy from food he will become sick within minutes and can have a seizure, slip into unconsciousness or die.

Ben's daily routine is carefully choreographed around his body's unique demands. Carbohydrate-laden meals every two hours, a cornstarch dose that works alongside his food to keep his energy levels stable – these are the threads woven into our everyday life. Insulin doesn't work, he has to get his glucose from food.

Ben is now 7, and as any parent knows, asking a child to eat every two hours is a huge and near impossible challenge. But the older he gets, the better he understands his condition. He will often say things like: “Why do I have this and no other kids do?” It’s hard to hear this as a parent, but I tell him that it makes him special.

He will also get really annoyed when he’s playing soccer or basketball and needs to snack in the middle of a game to keep his energy high enough. But he knows that if he doesn’t, he will get sick, and he’s learning to manage it the best he can. His unfiltered questions to doctors make us all laugh, and we are proud that he has embraced his uniqueness and is understanding what he needs to do in order to be healthy.

My intent in sharing our story isn't solely to highlight our journey; it's also to illuminate a need for change. Ben's condition went unnoticed and untreated for years due to an assumption that he didn't fit the prescribed mould. This assumption, rooted in the ‘he'll be right’ mindset, endangered his health and wellbeing. As parents, it was beyond frustrating to feel we were not being taken seriously.

Most parents know when something is wrong with their child, like I did, but it took years for us to get a diagnosis. We’re not alone; there are so many cases where parents’ concerns are dismissed, and it’s the child who ultimately suffers. If Ben had received an earlier diagnosis he possibly could have avoided side effects such as paediatric liver disease.

We appreciate that Ben’s diagnosis is rare and unique, but cases like his do exist. The health system needs to acknowledge that, and take parents seriously when they raise concerns.