The bright-eyed, happy little boy has faced more health challenges in his years than most do in a lifetime yet his parents remain positive and optimistic about the future. 

Noah has Diamond Blackfan Anaemia (DBA), an extremely rare blood condition that affects about 20 Australians and about 1000 patients worldwide.

Noah's body does not produce enough red blood cells to transport oxygen around the body, which is caused by bone marrow failure. He was diagnosed with DBA on his first birthday after his parents Kristy and Jet Dowie mentioned Noah's pale complexion to his pediatrician. 

Ms Dowie said at the time of diagnosis, Noah's haemoglobin blood level was 45, less than half of what it should have been.

Mr Dowie said had they have left it another week, their baby boy could have died from organ failure or a heart attack in his sleep.

"This is a lifetime disorder that will take his life prematurely if we don't find a cure," Ms Dowie said.

Noah's family has the chance to have a consultation with one of only a handful of DBA specialists worldwide at Camp Sunshine in the US in July.

Ms Dowie said the camp was a chance to hear about the latest research, what doctors were working on and meet other families with the rare condition.

She said there were no specialists specifically for DBA in Australia and it would be good to have another perspective and meet families in the same boat. "The people I've talked to (who've attended the camp) have said both times they've changed their treatment for the better," Ms Dowie said.

An additional recently-discovered heart problem, where the muscle of Noah's heart has stiffened, causing problems with the filling of the heart is throwing another challenge at the young family and medical professionals.

"Now Noah's got this heart thing too, the doctors are unsure of the best treatment for both conditions," she said. "It will be good to get a second opinion about that and whether we're doing the right thing, or if we need to change back to transfusions or what we need to do."

The couple has applied for the camp and being the only Australian family and first-time attendees, they're hopeful they'll be accepted. They expect to hear in the next month whether they've been successful.

Regardless, she said the US was in their sights, now or in the future because it's where they can access the DBA specialists.

She said they'd planned to wait until Noah was a little bit older to apply for the camp, but his heart problem changed that.

"Doctors don't know the cause but it's probably inherited cardiomyopathy and from Noah being on steroids. It is extremely rare for a child of his age to have changes (to his heart) so early, usually they don't manifest until teenage years," she said. 

Ms Dowie said doctors were looking at taking him off steroids that control his anaemia to treat the heart condition because steroids could make it worse and lead to heart failure. "Then we're back to blood transfusions and potentially a bone marrow transplant," Ms Dowie said.

Noah visits Melbourne's Royal Children's Hospital about 10 times a year to see haematologists and cardiologists.

She said they had relied on regular blood transfusions in the early days of his treatment and if the steroids he was currently on stop working, Noah will need a blood transfusion every three weeks.

Ms Dowie said it was a constant reminder of the importance of donating blood and that transfusions had saved Noah's life four separate times.

"We thought we'll try and do it (the trip) now while he's healthy enough just in case he's not in the future," she said.

"Some DBA patients have heart defects and things but we're at a tricky spot because we don't know what's causing it at the moment. Once we know more about his heart we'll hopefully have a diagnosis. He gets tired quicker and short of breath if he does any activities but other than that he looks like a normal, happy kid." 

Ms Dowie said Noah was well enough to attend childcare last year and began three-year-old kinder this year, with his development going ahead in leaps and bounds.

Noah was previously unable to attend due to his low immunity and the risk of infection.

"He wasn't really talking a lot and when I put him in with the other kids he took off and he's at the same level now," Ms Dowie said. "He absolutely loves it. It was very exciting when that happened.

"That's been great for his social skills. He's just a happy little boy. He loves other people and loves other kids. He's a great little kid."

It's been an eventful year for the family, the couple married in February and Noah celebrated his fourth birthday in March.

Ms Dowie estimated the US visit would cost about $10,000 but said yet again they had been overwhelmed with amazing offers of financial support.

"We were going to work hard and do it ourselves but anything else is a big help," she said.

"We've had so much support from our family and friends. We've already had fund-raisers for our medical expenses which has been amazing. People are just incredible and now they've come forward to fund-raise for the America trip.

"It's overwhelming. I feel guilty about people giving us money so I try and make sure I pay it forward in other ways."

She said they also hoped to visit Disneyworld or Disneyland because Noah loved the famous characters. 

Two south-west residents are hosting fund-raisers to help the family.

Port Fairy's Bridgid Madden will run her first half marathon in Geelong on April 14 while Warrnambool's Lola McCarthy will have her head shaved on May 6. Proceeds will be donated to the family. Lola, 10, will part with her long blonde locks at an event at The Arc in Warrnambool. 

Lola's Shaving for Sunshine Go Fund Me page has raised more than $1700 of her $2000 target in 20 days and she has also sewn 100 hair scrunchies to raise money. 

Ms Madden, who is in training for the half marathon, reached the $2000 fundraising goal she set in 14 days, but will keep the Go Fund Me page, A Run for Noah, open until the event.  "I think I'll be OK but maybe a little bit nervous on the day," Ms Madden said. "It's a bit of a personal challenge at the same time so it's good." 

Ms Madden is a friend of the couple and said they'd had an incredibly tough three years.

She said starting a family should be a time filled with joy, happiness and excitement but for the Dowies and their families, it had "been burdened with incredible stress and worry".

Ms Madden said people wanted to help the well-known couple who were "friendly and happy and so positive given what they're going through".

"Noah is such a little spark and a gorgeous little boy, I think everyone wants to get around them and help where they can," Ms Madden said. "I can't imagine what they're going through but we want to be able to support them in whatever way we can."

To donate go to the Go Fund Me pages Shaving for Sunshine or A Run for Noah. To give to the family directly go to the Noah's Ark Facebook page, where you can also stay up to date with the family's journey. 

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