Noah’s Journey - Embracing every moment

Noah’s Journey - Embracing every moment whilst he is here with us

Jaymee and Callum have been deeply touched by the overwhelming love, support and generosity of family and friends far and wide, wanting to help out in this difficult time.

As you might be able to imagine, Noah’s diagnosis brings with it a complex set of emotions and challenges. For them to ask for or accept help in any form is quite a foreign concept to them both, however they acknowledge that the road ahead will be incredibly difficult, and many people are asking how they can help. Understanding this reality and the challenges ahead for their beautiful little family, they've accepted this platform to alleviate some of the financial strain.

As Jaymee and Callum navigate this uncharted territory, they’re humbly reaching out to you as their community for support. They ask that you consider a monetary donation, as opposed to the beautiful gifts of clothes and flowers which they have been receiving. All donations will be put towards the ongoing costs of therapy which Noah requires to keep him comfortable whilst he is here and sadly, towards the inevitable funeral costs. These donations will help ease some of the financial burden, but also allow them to enjoy and cherish their remaining time together as a family.

While the road ahead may be difficult, their love and dedication to Noah will undoubtedly be a source of strength as they face these challenges together. Noah is a beacon of light in their lives, and they’re determined to give him the best possible care and quality of life, no matter the obstacles ahead. With your help, they can ensure that he receives the support and resources he needs to thrive, even in the face of this daunting diagnosis. Noah is lucky to have a pair of such loving parents who will be doing everything in their power to ensure his well-being and happiness.

Jaymee and Callum thank you from the bottom of their hearts for standing by their side through this journey. Your love, kindness, and support give them hope and strength as we confront this together, one day at a time.

Noah’s Story as told by Jaymee and Callum

On Thursday 24th November 2023 our lives changed forever. We welcomed our first baby named Noah John Hughes. He just couldn’t wait to meet us and decided to come early at 36 + 4 on his own terms. Shortly after taking his first breath, he was whisked away to the nursery for low blood sugars. Little did we know this was just the first struggle we would face.

He spent 5 nights in the nursery and was finally discharged on a neo home program which allowed us to tube feed at home. We learnt everything to do with tube feeding and how to do it safely. Noah wasn’t picking up the skills of swallowing and sucking and unfortunately this was our first sign something wasn’t right.

After 4 weeks at home with the feeding tube, he had mastered the drinking habit enough to have the tube removed. He was discharged from the home program on Christmas Eve. We finally thought THIS IS IT, we can have our little love bubble as a new family with our perfect baby.

That was short lived, as feeding him enough remained a struggle and 2 weeks later we had our 6-week GP appointment where they noticed he wasn’t gaining near enough weight.

From here it only spiralled and to be honest most of it is a blur. Over the next several weeks he had 3 hospital admissions, more blood tests than you can count, ultrasounds, x rays and the worst part, no answers.

We were finally referred to the metabolic team at the Children’s Hospital. At our first appointment we got blood tests done which were sent away to Finland for genetic testing. We were told there would be a painstaking 7 weeks wait for results. Other than waiting on the results, they couldn’t tell us much more and we just had to monitor Noah.

Over the next 7 weeks Noah did not improve. He struggled severely to gain weight (he was always classified ‘low tone’ and ‘floppy’). He was falling behind with his developmental milestones. He had zero head control with his head going backwards (side to side and forward was fine).

We had 6 audiology appointments to be told he has permanent hearing damage and would require further appointments to organise hearing aids.

His breathing got very bad in which several times a day he would stop breathing and you could constantly hear him struggling to breathe, which resulted in another urgent hospital admission.

We then saw an ENT and had a camera down his nose but sadly yet again, no answers.

We saw a paediatrician 6 times, a speech therapist for his drinking 4 times, a dietician for what milk would work best 3 times. We tried every type of milk under the sun to see if anything would help him gain weight.

We had an ophthalmology appointment to be told the optic nerve in each eye is severely underdeveloped and they don’t know what he can and can’t see, there is no cure for it or anything which can help.

We saw a physio to work on Noah’s development.

We were informed that his liver readings on his blood tests were not okay and that he was to start medication immediately.

We were visiting a hospital each and every day and rotating between 4 different hospitals between the Sunshine Coast and Brisbane for each of the different services.

Those 7 weeks were the longest, hardest 7 weeks of our lives, not having any answers. Each appointment finding out more devastating news about Noah’s current condition. We honestly thought how much worse could this get?

We finally got an appointment date for our genetic testing results. We came to terms with something being wrong with Noah. We came to terms with Noah needing medication for life possibly. We came to terms with Noah needing help or therapy. What we never came to terms with is the words we were told.

Friday 22nd March 2024 at 4pm we enter the appointment room. The words ‘Noah has a very rare genetic disorder’ hung heavy in the air, piercing our hearts like nothing we'd ever felt. As a couple of minutes passed, the reality of the diagnosis began to sink in. "Okay, at least we know what it is now," we tried to reassure ourselves, "and we can provide Noah with all the support and help he needs to thrive in life." But then came the sentence that no parent is ever prepared for or wants to hear: "Noah's condition is severe, and we are looking at maybe 12-24 months." If we thought our hearts were shattered before, they were now scattered into a million pieces on the floor, and it's a wonder we weren't there with them.

Noah has been diagnosed with a rare condition known as Zellweger Spectrum Disorder or Zellweger syndrome. It's likely you haven't heard of it, as it affects only one or two newborns a year in Queensland. Noah is the first diagnosed case this year and might be the only one.

For a baby to be diagnosed, both parents must carry the gene, which is itself exceedingly rare. The odds of two carriers having a baby, let alone finding each other, are slim. From there, there's a one in four chance of having a baby with the disorder, a two in four chance of creating a carrier like ourselves, and a one in four chance of having an unaffected baby. Cal and I had no inkling that we were carriers, as there's no history of any disorder or disease in either of our families.

Our goal is to give Noah the best life possible for however long we have him. To keep him happy and pain free. Surrounded by all his beautiful family and friends that adore and love him so much. In the end, we hope to give Noah the goodbye he deserves when the time comes.