Mum of son with rare albinism dreams of what he can do, not what he can’t

A whānau devastated by their baby’s rare albinism disorder diagnosis has found comfort from the way he has embraced life and by taking on positive hopes for his future.

For mum Alex Maddox, finding out her son Phoenix had the rare syndrome at 11-weeks-old was devastating. She said the ophthalmologist took a quick test and said, "I’m very sorry to say this but your son is going to have very, very poor vision."

Maddox said: “I kind of went numb after that, I couldn’t remember anything else he was saying. You see in movies where the main character kind of gets told something and then they hear that buzzing noise that goes over the ambient sound of everything else and that’s exactly what happened – I just blacked out mid kōrero.”

Phoenix has Hermansky-Pudlak Syndrome (HPS), which comes with a condition called oculocutaneous albinism causing lighter skin and eye colour, vision impairment, bruising easily and prolonged bleeding.

According to the US National Organisation for Rare Disorders, one to nine in a million people are diagnosed with this particular condition.

When Phoenix was born, Maddox said he was always on a mission - by two months he was rolling over, trying to crawl. But he struggled to breastfeed and gain weight.

It was during a visit to the osteopath, who noticed Phoenix’s eyes were shaking, that led to further investigations. They spoke to their Plunket nurse who referred them on to a specialist under urgency.

“Even at that point as a parent you hope for the best, you know? And you try and prepare yourself for the worst, but even when the worst comes you’re kind of still taken aback.”

She first had concerns at birth. Born via caesarean, she said Phoenix was presented to her over the curtain before being “whisked” away.

“He was waka blonde, and he had grey eyes, and I was like, ‘his skin’s pale – what is going on?”

Both Maddox and her husband are of Māori and Pacific Island descent.

While staff assured her Phoenix was fine, she later found out that there was an option to test for albinism, which wasn't carried out.

When the second diagnosis of HPS came through it occurred to her that an earlier diagnosis at birth might have been vital. She was mad, she said, and the whānau went through a second grieving process.

However, after some reflection she gained a new perspective. If they had known from birth it would have probably meant a “next level of helicopter parenting”.

“My son would have very much been in a bubble in his first few months, so I’m not angry about it or upset about it – things happen in the way that they do.”

The experience has inspired Maddox to study towards a Masters degree on whānau-centred wellbeing. She is investigating how to make navigating the health system work culturally for a whānau with a tamaiti kāpō (blind or visually impaired child).

Phoenix is now two-and-a-half years old and attends a playgroup once a week at the Blind and Low Vision Education Network (BLENNZ) Homai campus in Manurewa.

He is a great toddler, said Maddox, very smiley.

“He’s moving and he’s vocal and he’s showing his own interests in things. He is just the coolest and his āhua and his personality and his characteristics very much outshine his vision impairment.”

Maddox said he’s able to absorb through his other senses and does things differently from other children due to his absence of sight. She said he loves numbers and can recite the two times tables and understand addition.

"We’re put into a system where we’re given a diagnosis and immediately it’s like you’re being told that something’s wrong with your child. Something is wrong with them and these are all the things that we need to do to fix that. But Phoenix has absolutely just completely flipped the script with that."

However, their biggest concern still remains around the risk of bruising and bleeding.

"He has a platelet dysfunction so he bruises very easily, and when you have a vision impaired child with a platelet dysfunction, you can imagine how many bruises he would have all over his body."

Still, she adds that with his personality and characteristics, his quality of life looks good. "You can’t help but have a positive mindset about what his future’s going to look like.”

So what does his future look like?

“We think we’ve got a Paralympian on the rise," she said.

"He's very clever, he's very active. He looks like an intelligent Paralympian in the future - perhaps one with a PhD!" she said.

"Dreaming big here, but he’s got great ambition and I think the future for him and other tamariki like him is the fact that having a more positive mindset and framing around a conditional diagnosis really does impact that quality of life that they have.”