I was a first-time mum when Miss H was born. A beautiful little girl after a relatively rocky start. She was the most beautiful little thing I had ever held in my arms.

At nine weeks old, I noticed that the creases on her buttocks were uneven. I sent a photo to my Maternal and Child Health Nurse, who told me to get her checked, although she was sure it was probably nothing.

After an ultrasound at the paediatric clinic, the doctor left the room and returned with a harness. I was completely unprepared. Distraught. Overwhelmed.

Eight weeks later, Hallie was cleared with healthy hips. Thank goodness, I thought. Now we could move on and live a healthy, stress-free life.

Wrong.

At four months old, Miss H had her first vaccinations. She became unwell for about a week afterwards. Then, almost every month after that, she was “sick” again.

She would have terrible episodes of screaming that looked to me like she was in an enormous amount of pain. Her temperature would skyrocket. She would develop a rash across her legs and stomach, become miserable and stop eating.

We went to doctors. We went to hospital. We were repeatedly told: “It’s just viral. Babies can have 12 viral infections a year.” But my gut knew something was wrong.

Without fail, the same pattern would happen every time. The same symptoms. The same timeframe.  It felt like no matter what we did to try to keep her healthy and “germ free”, she still became incredibly unwell. She wasn't even in daycare.

After one particularly frightening episode, Miss H became severely dehydrated. We presented to the emergency department three times in two days and were turned away. Eventually, I took my pale, almost yellow, sunken-eyed, floppy baby back to hospital and burst into tears. I swear they must have thought I was just an overprotective, overreactive first-time mum.

But after that admission, while speaking to the doctors on the ward round, I mentioned again that Miss H always became unwell in exactly the same way. By then, I had started keeping written records of the dates. I took photographs of her rashes. I filmed her when she was writhing in pain.

A junior doctor told me to come and see them in paediatric clinic. So I did. I owe that doctor everything. That appointment ultimately led to Miss H being referred to the rheumatology team at the Royal Children’s Hospital. She was two years old when we had our first appointment there. By then, she had spent 20 months of her life experiencing these episodes.

• Twenty months of fevers.
• Twenty months of pain.
• Twenty months of days where she was completely knocked down and we had no idea why.

At our first RCH appointment, we had a week-old baby son at home.

The initial thought was that Miss H might have PFAPA. I had never noticed mouth ulcers, and she had always complained of tummy pain, but we went along with that possibility and continued on as we had been.

Prednisolone was eventually introduced for flares. As Miss H got older, she could communicate more. She could tell us that her tummy hurt. She could point to where the pain was. She started telling us that her legs hurt. Slowly, we started piecing more of the puzzle together.

At another rheumatology appointment, my family history was discussed. My mother has Crohn’s disease, so Miss H was referred to gastroenterology. We went through another admission, bowel preparation, a colonoscopy and an endoscopy. The finding was chronic inflammation, but no Crohn’s disease. It was a relief, but once again, we had no real answer. Back to the drawing board.

We started noticing more and more things that didn't add up.

• How was it that our son never became “unwell” in the same way Miss H did?
• Why didn't he react to childhood immunisations in the way she did?

I knew something wasn't right. But at the same time, I started to wonder whether I was going crazy.

Every time the signs of a flare started, I would spiral. Every time we were around another child with a snotty nose or cough, I would spiral. Because I knew what was coming.

For us, it was never simply, “She has a cold.” It was a week of our lives spent purely in survival mode. And that hasn't changed. Even now, those early experiences are incredibly triggering. 

For the next four years, Miss H remained under rheumatology. We used prednisolone during flares. At first, it worked. Wow. What a relief. But after several episodes, it didn't seem to work as well. Sometimes it even seemed to shorten the gap between flares, with episodes occurring as close together as two weeks apart. Eventually, we gave up. Miss H hated the taste. Sometimes the prednisolone made her vomit. If it wasn't helping, why were we putting her through it?

The strange thing was that during summer, she often seemed to have longer periods between flares. And when those periods came, life felt amazing. It felt normal.

I learnt very early that when the sunshine comes, you have to enjoy it - because when the next flare comes, the world can suddenly feel very dark again.

In 2024, we had another baby. Again, we had a baby who didn't experience the monthly illnesses that Miss H did. Thankfully. But Miss H continued to experience terrible symptoms and excruciating pain.

She attended kindergarten from 2024 to 2025, and I can't begin to tell you how many days she missed. She would be away for a week, return for a couple of days, and then become unwell again. And it wasn't just a snotty nose or a cough. It was high fevers, sometimes reaching 40.9°C. She would go white as a ghost, curl into a fetal position on the couch, complain of unbearable tummy pain and become an absolute shell of herself.

As her parents, it has been horrific to watch.The helplessness is difficult to describe.

Throughout her life, I have lost count of the number of times I have had to tell family and friends that we couldn't attend something because Miss H was “sick again”. I never really had the words to explain what we were going through.

Some friends and family would say, “Oh gosh, again?” or “Her immune system just doesn't cope, does it?” But until you see her during one of these episodes, it is almost impossible to understand how life-limiting it is for our beautiful little girl. 

She somehow continued to meet her developmental milestones. She started primary school, but her Prep year was also plagued by absences. By the end of the year, I think her attendance was somewhere in the 70% range.

Winter was always particularly difficult, as it is for families with young children. But what really stood out was what happened when the rest of us became sick.

During the winter of 2025, our family had influenza A, RSV and COVID. Our other two children, who were three and one at the time, became sick and recovered remarkably well.

Miss H was different. She would have all of the symptoms of the viral infection and then, on top of that, her usual flare symptoms would begin. She had influenza A, but also excruciating tummy pain, a stiff neck and sore legs. It still didn't make sense.

Towards the end of 2025, our rheumatologist was becoming increasingly unsure of the diagnosis. Miss H didn't fit the typical PFAPA picture. She had abdominal pain and no mouth ulcers. She was briefly trialled on naproxen for possible systemic juvenile idiopathic arthritis.

Then came a referral to immunology. We met with a team of doctors, an immunologist and a different rheumatologist.

That morning, we drove to Melbourne, as we had done so many times before. It is a 2.5-hour drive each way. I had an appointment with one of the doctors, possibly a registrar or fellow, and we spent about an hour going through Miss H's story from the very beginning.

I showed them the photographs.

I showed them the fever dates and times.

I showed them the notes I had kept for years.

I showed them the videos.

I told them everything.

Near the end of the appointment, the immunologist and rheumatologist came into the room. The doctor who had seen me first went through everything I had told them. And then came the words I will never forget:

“We think Miss H might have Hyper IgD Syndrome.”

For the first time in years, I felt relief. I felt heard. It wasn't just the recurrent fevers that someone had listened to. They were listening to the whole story.

Before I even drove home, I started Googling. For the first time, everything seemed to fit.

• The fevers.
• The abdominal pain.
• The rashes.
• The joint and muscle pain.
• The pattern.
• The recurrent nature of it all.

I still wasn't convinced. I was sure Google had told me that only around 200 people worldwide had this incredibly rare condition.

We waited for the results of the initial test. It came back positive. That meant genetic testing was the next step. That also came back positive.

My husband and I then consented to genetic testing ourselves, which showed that we each carried a faulty gene. Miss H had inherited both. She had finally been diagnosed with HIDS.

I can't properly describe the relief of hearing those words. After years of questioning myself, I finally knew I wasn't actually crazy after all. There really was something wrong. And finally, we had a name for it.

In October 2025, Miss H was diagnosed and we were told she would start a medication called anakinra. It had been approved for her, and although it was a subcutaneous injection and we were warned it could be painful, I didn't care. If it could help her, we would do whatever we had to do.

I knew injections. I'm a registered nurse by profession and have given more injections than I could ever count. Giving an injection wasn't difficult from a medical perspective. Giving one to my own child was completely different.

Getting the needle into a six-year-old wasn't even the hardest part. It was the moment the medication started being pushed in. The pain Miss H experienced was heartbreaking to watch.

I have tried to explain her condition to her, but I don't think she truly understands what is happening. Having to have these painful injections as a six-year-old must simply feel unfair. 

Every time I prepared the injection, I put on a brave face. Every time I bargained with her. Every time I wiped her leg with the alcohol swab, my heart ached for the childhood that had already been so tainted by fear, pain and unanswered questions.

The first time we gave anakinra during a flare, it worked incredibly well. I was over the moon. As difficult as it was to inject my own daughter, I knew I could do it if this was going to be the outcome.

Finally, some relief. But that relief was short-lived. The following flares were different. Anakinra didn't work.

Sometimes we gave up to three days of painful injections, knowing there was a very real possibility that they would make absolutely no difference to how Miss H felt.

We tried combining it with prednisolone. We tried increasing the dose. Still, there was very little success.

I found myself fumbling through each flare, becoming increasingly anxious and frightened that the treatment that had initially seemed so promising was no longer helping her. And once again, we were potentially back at square one.

At our most recent appointment, we were told about another biologic medication that Miss H would be starting. Again, I felt that sense of relief. We finally had another option.

But then I started researching. I joined HIDS support groups, most of which are made up of families from overseas. And I kept seeing the same thing. Families talking about canakinumab, Ilaris.

A biologic medication given less frequently and, according to the experiences families were sharing, much easier for their children to tolerate than the painful injections Miss H was experiencing.

Parents described their children having dramatically fewer flares.

• Being able to return to school.
• Being able to participate in normal childhood activities.
• Some described their children as having periods where life felt almost normal.
• Some described the treatment as life-changing.

I couldn't stop thinking, why hasn't this been offered to Miss H? I knew I couldn't live with myself if I didn't ask the question. So I researched. I read the clinical trials. I read about outcomes. I looked into the regulatory approvals. And I discovered that canakinumab had been approved by the TGA in late 2025 for use in HIDS/MKD in children over two. So I asked the treating team why she couldn't access it.

Our lovely rheumatologist explained that the issue wasn't that it was an inappropriate medication. The problem was access. Canakinumab is not currently PBS funded for HIDS/MKD in Australia, and the team is currently pursuing access for another autoinflammatory condition.

That was incredibly difficult to hear.  Because here we are. We finally have a diagnosis. We finally understand what has been happening to our daughter for almost her entire life. We know there are treatments being used internationally for children with the same genetic condition. And yet, when the treatment that appears to offer another potential path for Miss H isn't accessible to her, we are left trying to work out what comes next.

I am not asking for Miss H to receive a miracle cure. I am not asking for there to be no risks. I understand that every medication has potential benefits and risks, and that treatment decisions need to be made carefully with her specialist team.

What I am asking for is access to the best available treatment options.

I want Miss H's doctors to be able to choose the medication they believe is most appropriate for her, not simply the medication that is accessible because of the limitations of our funding system.

• I want her to have a childhood that isn't dictated by the next flare.
• I want her to be able to go to school without us constantly calculating how many days she has missed.
• I want her to be able to make plans with friends without me wondering whether we'll have to cancel.
• I want her to be able to wake up without pain.
• I want my husband and I to be able to sleep through the night without waking in a panic and checking on our daughter because we are frightened that her fever has become dangerously high.
• I want her to be able to be a kid.

HIDS is no joke.

It has affected almost every part of Miss H's childhood and has affected our entire family in ways that are difficult to explain to people who have never lived through it. But there is also hope. Because now we know what we are fighting.

We know her diagnosis. We know her body isn't simply “bad at fighting viruses”. We know she isn't just unlucky. And we know there are researchers, clinicians, families and advocacy organisations around the world working to improve the lives of people living with rare autoinflammatory diseases.

My hope for the future is simple. I want Miss H to have calm in her world. I want relief from pain and fear. I want her to have the opportunity to experience long periods of sunshine without us knowing that another devastating flare is waiting around the corner. I want her to have the same opportunity for a high quality of life as any other child.

And I hope that, in the future, children like her won't have to fight two battles, one against their disease, and another simply to access the treatments that may give them a better life.

Thank you for taking the time to read our story.

For our beautiful girl, and for every other child and adult living with HIDS and other rare autoinflammatory diseases, I hope the future brings better treatment, better access and, most importantly, a life with fewer limitations.