In the past 2 months, Luca has had the following medical appointments:

Cardiologist- heart is fine

hearing test- ears can hear but he doesn’t react to everyday sounds

Lung X-rays- all good

allergy tests- all good

EEG/brain scan- much improved (brain at level of 10-12 month old)

Luca is doing great. Sitting up on his own now- something I never saw coming. I didn’t have much hope. Luca is doing so great, palliative care have asked to close his file for now.

So, does this mean he’s NOT going to die? Does this mean he DOESNT have a Mitochondrial Disease? Do we have ANY IDEA WHAT HE HAS?! Why?

I know I should be absolutely thrilled at the news that Luca’s results are good. But in reality, I’m absolutely lost. Why? How?! Well, a negative result in anything can give me SOME answers. It could lead to giving him a “label” for the condition he has. I’m pushed further into limboland. I have mentally tried so hard to be strong with prospect of my son dying… and now that he seems to be improving I don’t  know how to be. If he’s not going to die, I must now try and be strong enough to be his full time carer for the rest of his life? Will that be 5,10,50 years? I’ve never felt so weak.

We saw the genetics team last week. Of the 300 genes they did research on (over 12 months) they couldn’t find any defaults. So, now they’ll be looking at about 4000 new genes. If they find a match- they’ll be able to give Luca’s condition a label. If nothing matches then – Limboland.

In the past, muscle biopsies were done to diagnose Mitochondrial Diseases. If we get no answer from the blood/DNA results- then we may have to take this step. It’s invasive and Luca would have to go under general anesthetic. And all for what? Me to get a diagnosis that doesn’t change anything. My mental state needs it. But that’s selfish to put him through that for my sanity.

The biggest haunting fear with Luca doing better, is that I’d be seen as a fraud. If he doesn’t have a Mitochondrial Disease and here I am asking for donations for AMDF on Luca’s behalf. Tugging at friends and families heart strings.

I want to let you guys know that, just like the Drs…. we’re just going along with what we know at the time. And right now, no one knows anything.

My mind is really dark and sad at the moment. I guess sometimes I mourn the son I thought I’d have.
Hoping to twist out of this mess to be strong for my boy that needs me.

 

 

 

 

For the past two years I’ve been planning on getting a new car. When I found out I was pregnant with second child I knew I needed a bigger car. A wagon. I decided I definitely wanted a Subaru Outback. Essentially it’s a SUV wagon. Practical, large, yet feeling a bit luxurious.

After Luca was born, we thought we could make do with my smaller car while we finished off our house and saved more money.

Then, that dreaded 10 month semi-diagnosis for Luca of having a Mitochondrial Disease came. Reading his prognosis. We had to start thinking “do we need a bigger car, if we are going to lose our second child?” Or “we definitely need a bigger car to carry his wheelchairs or equipment around”. It’s a big conundrum!

(At this stage, we’ve gone in between! We’re just waiting for the new Renault Megane Wagon to be launched. Has extra room at back for bikes/chair- but still relatively compact inside. )

It’s this practical & realist way we think when we plan things in the future. I’ve mentioned that I try not to think of the future much- but when I do it’s for GOOD things- but then I also have think about “but what if Luca isn’t here”. Limboland.

We have our first overseas holiday with our 4 year old coming up. Given Luca’s condition- how a cold one day can turn into a hospital visit the next- we won’t ever be taking him overseas. It’s not fair on him or us if something was to go wrong in a different country. And this is where Very Special Kids (VSK) comes into the mix. They allow us to keep living our life.

In order to go overseas, our first step is to book in Luca to have his own holiday at Very Special Kids. They need about 6 months in advance to book him in over an extended period. (Often you need to work with them to find mutually agreed dates.) Both my parents and inlaws will be staying at the VSK family accommodation on site to give Luca some daily family love. (Despite him getting so much love from staff at VSK)

Once VSK is booked, then we can go ahead and book our holiday. And just knowing a holiday is on the horizon certainly puts a pep in every ones step.

It’s so bloody great mentally… knowing I have something fabulous to look forward to. Something new to talk about with friends!

Although, it might not all go to plan. Who knows how healthy Luca will be! My beautiful friends who I met through the Australian Mitochondrial Disease Foundation are currently in hospital with their child. They were due to fly overseas tomorrow. Fingers crossed that they should be discharged today and still get to take their child to VSK and then fly out the next day. Everybody diserves a holiday to recharge their batteries. And parents who care for their special needs kids, as their full time job, definitely deserve respite without guilt or outside judgement.

 

I genuinely am feeling pretty good at the moment. Luca is doing relatively well, despite not being super happy. He’s definitely sitting up on his own a lot. And then sometimes falling flat on his face- but we’re still all very excited for him. We try to get him to play in his room more for comfy carpet faceplants. We build a cushion fortress in the lounge area, where we have floor boards.

Husband asked where we put the playpen from when Lili was younger. I told him I sold it on eBay not long after getting a semi-diagnosis for Luca. That feeling of “what’s the point” of keeping things when they’d only remind of the things Luca can’t or won’t do…. but now he bloody can!

On Thursday Luca had a hearing test. He had one last year too. A common symptom of a Mitochondrial Disease is loss of hearing and/or eye sight. Last year his hearing was perfect. This year, I was definitely more concerned. Lili screams right next to him, he doesn’t blink. I call his name, he doesn’t look. It doesn’t change anything really- I’d just touch him more and get in his face more if he did lose his hearing. But for now, his hearing is fine. However, he does not react to sounds that don’t interest him…. YOU MEAN ME??? Of the 6+ sounds the tester made, he only reacted to the drum. Looks like I’ll be a new drummer mama?! No.

So everything is pretty positive. I’m positive. We’re happy. I’m flicking through the paper, sport section. Oh there’s beautiful Subzero- former champion racehorse. I read the story.  The horse is visiting a boy at Very Special Kids (respite and hospice in Melbourne for children with terminal or life limiting conditions) Subzero knows the boy is not well, so goes in a little closer to the boy to allow him to pat him. Hours later, the boy, Curtis Dyt, 5, died. Cue the tears.

Very Special Kids is one of the wonderful organisations that support our family. The staff and facilities are amazing. It’s all about making the kids happy and comfortable. It’s about helping recharge the parent’s batteries. It’s about experiences for kids that they might not get to do any other time.

I’m so glad Curtis Dyt had that special time with Subzero. I’m so happy for his parents who can take some comfort knowing their son died with a happy experience fresh in his mind.

I have no idea what the future holds for Luca. Which is why I try not to think too far ahead. However, when I read something like this story, about a sick boy at Very Special Kids, I can’t help but relate and think about us losing him. Cue the tears. 

 

 

 

Luca is sleeping. Luca is breathing.

Wake up. Check monitor. Rise. Fall. Rise. Fall. Yup, Luca is still breathing.

This is how I start every single morning. I’m not an anxious person by nature but knowing of Luca’s Mitochondrial Disease and then, not knowing when or how it will strike has made me this way.

Hi! I’m Nadja. Nice to meet you. (Please don’t ask me what I do for work or if I have kids)
What’s that? You want to know what I do for work? Oh. I’m a full time carer for my son who has an incurable disease.
I also have an older child who is 100% healthy.

These are the questions I get anxious about when first meeting people. They make me question my own identity. There is so much that makes me who I am… but a huge part, is all about “Living la vida Luca.”
This blog is just to give a little insight to stuff we (Luca, me & fam) go through or don’t go through. Feelings, emotions, tests and experiences we face on a semi-regular basis.
Thanks for reading. 😍