We didn’t know we were living with a child with a rare condition.

Where we started;

Our first peek into the world that is fragile & complex medical conditions, was when Matthew was just 9 weeks old.

We had been at our parent’s for dinner. I gave him a bottle/feed before we put him in the car to take him home. As we put him in the car we noticed he sounded funny. We didn’t think much of it.

Around 1am he woke for another feed, I could barely get him to drink anything, the rest of the night he threw up little mucous vomits. I kept him close to me, on his side.

Matthew already had a speech therapist, lactation consultant, dietitian and physio therapist at this time. He was a difficult feeder (his brother had also been) so in my sleep deprived parent state my warning bells hadn’t gone off.

Next morning, Shane, Luke and I all showered and dressed. It was heading toward 9am and Matthew hadn’t woken again to ask for a feed. I slowly calculated that it had been more than 6 hours since he had a proper feed.

I said to Luke “Let’s just take him to Kilmore hospital, the wait won’t be long, and if it’s nothing we can just come home.” I knew Matthew couldn’t afford to go so long between feeds, having already been labelled ‘failure to thrive.’

Kilmore hospital was a small district hospital with an Urgent Care department. Shane was born there and it was just 10 minutes from our house. Luke dropped Matthew and I at the door, taking Shane with him to park the car.

By this time, my warning bells were ringing loudly. Matthew hadn’t made a sound.

The first time we raised the alarm

I rang the bell and the nurse came out, “He’s making a funny sound and hasn’t fed in over 6 hours.” She came closer, turned and yelled,
“THIS BABY IS GRUNTING.”

It felt like the whole hospital descended – well to be fair, in a small district hospital on a weekend it is possible. Luke called me from the car park. “What’s happening?”

“They are talking about helicopters.”

I was so stunned. They pulled a curtain so I couldn’t see him. Cut off his clothes. Called the MICA paramedics.

A team was airlifted from the Royal Children’s Hospital in Melbourne.

We had no idea what was happening. I think in that moment Luke left the car park, to take Shane to a friend’s house and came back.

We were kept mostly in the dark and away from Matthew. He had lines in both arms. The team from RCH and the MICA paramedics intubated him.

This devastating experience was the beginning of this insane journey.

Back then they wrote the episode off on a nasty cold and flu virus called RSV. On him only being young.

This was only the beginning.

12 months later exactly we were in the same place. Inpatient at RCH. Nurses had finally stopped saying “He’ll grow out of it.”

Doctors were working hard to find out why our son had a floppy airway, hadn’t passed a hearing test since birth, was legally blind, couldn’t roll, or hold his head up.

Then it was a collection on symptoms, global developmental delay, cortical vision impairment, hypotonia.

Symptoms. Labels.

They aren’t answers.

It took 4 and half years to get a diagnosis for Matthew. Another few months before we had any answers.

You see, genetics is an area where science and testing is developing rapidly. There are more and more extensive tests they can do.

However, they don’t know what most of it means yet.

From about 12 months when we realised that Matthew wasn’t growing out of, we had to learn to care for a child with a rare condition, who was very ill most of the time. A child who had very limited ability to communicate.

Communication

A huge part of caring for Matthew was learning to read him. Just like you do with a baby.

Does this cry mean I am hungry or something hurts? Is that sound bored? Body language was a massive part of how Matthew communicated.

When happy he would wave his arms, kick his legs and make vocal sounds. He had a smile that he could hold for only seconds at a time. One caught in photos was always celebrated!

When Matthew was bored he could kick his legs and call out. Sometimes he would say “mum”. But not often.

Pain and illness was a lot more difficult to figure out.

All the doctors, nurses, education and science had no explanation for the issues we saw.

So each time something new emerged, it was a process of Matthew and I working together to try and put our finger on what the symptoms where that we were looking at. We need evidence, a pattern of behaviour, videos, and timelines to take the teams to say ‘something is wrong, please fix it.’

What we learned

We learned to document.

Document as much as you can. Times, feeds, medications, coughing, vomiting, crying.

Videos are great.

I don’t mean all the time just in case.
I mean if you’re at a loss and everyone is struggling to come up with answers.

When doctors (& other professionals) haven’t seen the symptoms themselves or are dealing with a child with a rare condition they know nothing about they are at a loss. It’s not even that they don’t believe you, it’s that they cannot picture and understand what you’re telling them without every detail.

Sometimes a diagnosis is pending on a little factor you wouldn’t think to mention the first time. So I wouldn’t let it stress you too much if you have to tell your story over and over.

Documentation was what lead to Matthew’s diagnosis of reflux. We were able to track when I noticed the symptoms start – I had flagged it with his nurse, so it had a date.

Monitoring everything we did in hospital allowed me to turn off his feeds immediately one day when I noticed the symptoms appear, not long after they started.

The next day he was sent for a fluroscopy and they confirmed severe reflux, probably contributing to his numerous chest infections.

I always felt at a teaching hospital like The Royal Children’s Hospital, that the more doctors that knew our story the more likely someone was to know something useful. Either for our Matthew or another child in the future.

Most of the time, anyway.
There are practitioners that you personally, will never get along with.

Find professionals you can communicate well with.

If you don’t advocate for better care for your child no one else will.

Most health professionals are professional enough to handle a patient and their parents saying, “I’d like another opinion.” Or “I’ve found someone with a different approach, I think they will be really good for my child.”

If you don’t feel comfortable having conversation about what is happening, that asking questions is a inconvenience, take a look at your options.

I changed professionals for Matthew twice, consciously.
The first time was a community early childhood intervention worker, the other a gastroenterology doctor.

The first didn’t seem to have any interest in getting to know our family and support who we were. So she made unhelpful suggestions on my occupational status, which made me feel very unsupported and not able to discuss what was going on for our family.

The other, gastro doctor.
She didn’t have a great memory, often had no idea why we were there when we had appointments. One day Matthew was waiting for a surgical procedure that she would be performing.

I said I had questions, so she sent her resident. Anyone who has spent any kind of time in hospital, knows that residents do rotations between different teams.
They often only spend 3 months on a team. I used to joke with Matthew’s consultants that 3 months is just long enough for me to train a doctor.

So this resident came, couldn’t answer any of my questions, saying to me “I am sure she has a plan.”

Given my experience with her and her memory, the reassurance of a resident did not make me feel better.

But I sent Matthew off to the anaesthetic hoping that it would be okay. I arrived back at Matthew’s room to wait The nurse came in. “The gastro doctor is asking for you, she’s in pre-op.”

WHAT?!
I rushed down.
She says to me “I heard you had some questions.”
I was furious!

My son did not need to be under anaesthetic a second longer than necessary! Then she proceeded to tell me her plan was to hope he had grown out of the problem she faced before.

THAT is not what I call a plan!

It came time to do follow-up appointments. I ended up saying to Matthew’s nurse, “I don’t want to see her again, how do I get off her service?”

I don’t I think I even laid eyes on her ever again.

Even when later they needed a gastro to take on her case, they said to me, it would be good to have someone who knows him. I stood my ground. Someone with a terrible memory wasn’t going to help.

Matthew’s team stood by me.

Build your own community of peers

Friends who are walking the same path as you are absolutely key. Key to a different perspective and ways to deal with what is happening. There may not be many others with the condition, but there are many other parents caring for a child with a rare condition.

Part of my support network was Syndromes Without a Name, an association that is designed just for families like mine, with or without a diagnosis that means there is no formal support.

Take care of yourself

If you don’t you will miss things and make more mistakes.

I know there are a billion other great reasons to take care of yourself, but in my experience parents are the lowest people on their own list. Especially Mums, so consider what would happen if you couldn’t care for your child.

Good nutrition is absolutely my number one tip for coping with caring for a child with a rare condition. It was seriously one life saving step for me.

In Summary

I could go on and on. But these are things I am so grateful we learnt and did, every time I think about our journey.

What about you, are you caring for a child with a rare condition? I am sure you have some thoughts of your own? Or questions?

I’d love to hear them.