Tell us your story - Celebrating 50 years of newborn metabolic screening

So, all the blood cards from all the babies over New Zealand come by courier to us, they come overnight, every night.

There are about 60,000 babies a year born in New Zealand and we pretty well screen all of them.

We screen for about 20 different inherited conditions.

He was New Zealand’s only geneticist. Arthur was way ahead of his time and he was, he was a great person, really, really good
person.

It’s a long time since I’ve been in a lab and I guess it’s very busy.

That’s very Rolls Royce. Actually, Arthur Veale and I built one of the machines. We got the parts, actually assembled it in one of our back bedrooms. The technology has moved tremendously since Ian’s time, a very clever analytical system.

The timing can be very critical for some of our disorders.

Our programme is very, very well-respected. For example, Natasha has just been awarded the Dussault Medal of the International Society of Neonatal Screening for the best young investigator worldwide in newborn screening.

The role of the Ministry of Health National Screening Unit is to ensure that we have safe, high quality screening programmes nationwide. In relation to the Metabolic Screening Programme we manage the funding and develop the policies for the programme, we provide ongoing  monitoring and reporting and also play a leadership role setting the strategic direction for the programme.

Ultimately, it’s about ensuring that there is a culture of continuous quality improvement in the programme. Now we achieve this by working closely with a dedicated workforce of midwives, the laboratory team at LabPLUS, clinicians and support services.

The Newborn Metabolic Screening Programme is one of our most successful screening programmes in the country and on average  approximately 50 babies are identified each year as needing treatment for a metabolic condition.

Had a really healthy pregnancy, had a dream labour and took her home and she was healthy as, and then when she was eight days old the midwife turned up.

On the way to our house she’d got a phone call from the specialists at Starship, the immunologists, that said look there’s something, there’s something wrong.

Babies with Combined Immune Deficiency (SCID) are born without a functioning immune system. Although they appear healthy at birth, they go on to develop severe, persistent infections and die by a year of age.

The medical side of the thing, watching your kid go through this, it’s not easy. Luckily at that point my Mum was actually up there with us, and so between the three of us one of us stayed awake and held her every single hour for that time that she was sick. Because she got ulcers through transplant, she stopped eating, drinking her milk, and she hasn’t worked that one out yet so we’re still feeding her through the tube down her nose.

Might be easier if you push it. It’s a bit of a, bit of a worry if she falls over and hurts herself. Who’s this? Is it Luna? You going to give her a cuddle? <>We’ve got to get the tube out, teach her how to eat and soon enough she’ll be like every other kid, you’d never know, yeah. It’s nice that we can get to take her out a bit more, nice walking tracks and some parks where there’s not too many people. It’s your kid’s life.

For us if we hadn’t have found out early, we’d be in a completely different situation now and it’s life or death. And I know you think you’re not going to be that one because everyone thinks you’re not going to be the one in 100,000 or whatever but screw the statistics, when it comes down to it, we’re that one.

In our eyes If it wasn’t for the newborn screening, she may not have made it to her first birthday. That test is everything for us. It gave her the best chance of success in life.

We’ve got three boys and he’s our baby.

No, I’m not.

Oh sorry, you’re not a baby.

I’m a big boy.

You’re a big boy.

She’s our baby so she was born 10 years ago, 2009.

My husband’s one of six boys and a little sister so it was quite exciting for the Watkins family to have a girl.

So, I had a phone call from the hospital, saying that they’d, that his results had shown some abnormalities. I remember thinking oh this is going to be fine, she’ll be fine and then we got a phone call three days later saying to come into Starship. So, it’s a huge shock, I suppose.

Congenital Hypothyroid, or CH, affects about one in every 2000 New Zealand babies. It’s a really good disorder to pick up through newborn screening because early treatment is simple and changes the intellectual outcomes for these children.

I take one or one and a half pills and then just eat them. One white one today. Then two tomorrow.

Yes two, you have a pink one tomorrow. Yum yum.

If it hadn’t been picked up then he would have development problems, he would have growth problems, he might have mental disabilities.
It was good to know that the heel prick test does work.

Yeah.

And then I got first place in the fun run.

If it hadn’t been picked up well it would have been like I suppose years down the track and we would have really noticed that she wasn’t meeting milestones and wasn’t growing.

Amazing that we live in this country with this facility. It would have been, would have been terrible if we had not found out so soon.

My mum used to take me round to people that had just found out that their baby has PKU.

And, Mum said it’s important because she didn’t have this, she didn’t have the people coming, just so you can go here you go they’re fine, but you need to do this and this.

Phenylketonuria, also known as PKU, is a condition where one can’t break down protein normally, and we have protein in food and therefore you need to be on a very low protein diet for treatment.

The rate of PKU is about one case in 15,000.

This is my supplement that I have to take. So, I take the orange one, or the Lophlex 20, I take that three times a day, so that’s my breakfast, lunch and dinner.

To keep her protein levels in check Rosemary follows a very restrictive diet. So, there’s spaghetti, and then rice and then the flour. She can only have 5 grams of protein per day.

I got cheese. So, on the back, per serving, so the serving size is 20 grams and that is 5.3. That’s very high so no cheese, no cheese, I know, it’s so sad but that’s alright.

If I hadn’t of had the test then it would have been a mental disability, because it does affect the development of the brain, so I feel really lucky cause my life would be so much different to what it is now.

This is my baby at 19 weeks and that’s her hand which is just covering her face and then that’s her little hand just tucked up under her chin.

It’s important, it’s important, it picks up on things early. I don’t remember mine so it can’t have been that bad so, yeah.

Otis is first born and he’s just going on two and a half. Otis was three weeks old when he was diagnosed.

Cystic Fibrosis, what’s known as CF as well, is a congenital disease what clinically manifests as recurrent chest infections and problem with nutrition. It was a complete shift from what we thought parenthood would be, which was probably wrong anyway.

Each position is 5 minutes, for 20 minutes morning and night. It’s helping to loosen mucus and move it away from his lungs.

That was a big one. That’s a good PEP Otis.

Cystic Fibrosis is a degenerative condition so right from day zero basically there is potential damage happening and potential infection so as early as possible it pays to be trying to prevent that damage from occurring in the first place.

It’s so lucky, it’s so lucky that the heel prick is around actually because it picks up these things that you need to be, you know you need to get onto them really, really quickly.

What was a reality for people with CF even five or 10 years ago is now vastly different in terms of quality of life but also length of life.

We’re really positive and excited about what that future can hold.

He’s our first child, our precious only son. He was born in Christchurch Women’s Hospital. He was born on a Tuesday, and we came home on the Friday and then Friday at about 8 o’clock we got the phone call.

Congenital adrenal hyperplasia, otherwise known as CAH, is a genetic condition where the adrenal gland makes an unbalanced steroid hormone. So, in small babies they can get seriously unwell with salt loss and older children can develop too fast.

Around one in 20,000 babies in New Zealand are diagnosed with CAH.

If someone says to me what CAH is, I just say Google it. I’m not really up with endocrinology at all so, it was, yeah it was a big shock.

Richard is a very responsible child, so I trust him to take his medicine and he knows what the implications are if he doesn’t.

This one I take two times a day and then this one I take four times a day. If he missed one tablet it’s not that big a deal but over time obviously his body would start getting really stressed and he would end up in a coma eventually.

Because New Zealand’s the only country that tests for it, overseas he would have sort of just started having seizures at six days old and possibly died. It’s probably one of the most important things you can do for your baby, getting the heel prick test done.

This is a photograph of me…Reading the Ag Trader. Reading the Ag Trader.

It’s in your DNA.

Really important for Richard to not feel like his condition was limiting the potential he had. We’ve always had him be aware of his condition but that he’s just perfectly normal and he can do anything he wants to do.