Camilla’s Journey with HI

From Birth to Diagnosis: Camilla’s Tough Start

We are an international family living in Denmark. I’m a Chinese mother, and my husband is Danish. Our first daughter, Camilla, was born in January 2021.

During my pregnancy, there were some unusual signs. Camilla’s heartbeat was slightly higher than normal at 35 weeks, and I was suspected of having gestational diabetes. I had two glucose tolerance tests, but both came back normal. Despite the normal results, the midwives were concerned. Camilla appeared to be significantly larger than expected (estimated to weigh around 4 kg at 35 weeks) even though I’m quite petite (40 kg and 156 cm before pregnancy). The medical team at the local hospital couldn’t explain why she was growing so large, but they acted cautiously and informed the neonatal team to prepare for a C-section.

However, Camilla had her own plans. My water broke four days before the scheduled C-section at 38 weeks. I ended up giving birth naturally, encouraged by the midwife, who told me that every mother has the strength to deliver naturally and that we could still switch to a C-section if needed. It was incredibly hard, but I did it. Camilla was born weighing 4.77 kg (10.51 lbs.) and measuring 56 cm.

Just one hour after birth, something went terribly wrong. Camilla suddenly stopped breathing, and her entire body turned blue. She was rushed to the NICU, where nurses tested her blood sugar: it was just 0.8 mmol/L(14.4mg/dl). She was immediately given IV glucose. Over the next few days, doctors tried to stabilize her blood sugar, even with the medication Diazoxide. Eventually, they contacted Henrik Christesen at Odense University Hospital, an international expert on Congenital Hyperinsulinism (CHI).

Ten days after her birth, we were transferred by ambulance from Aarhus University Hospital to Odense. Genetic testing revealed that Camilla had inherited two variants of the ABCC8 gene, one from me and one from Søren, confirming a severe form of CHI that was unresponsive to Diazoxide. To protect her brain, doctors performed a near-total pancreatectomy and placed a PEG feeding tube when she was just one month old. I remember that day clearly: It was the first day of the Chinese New Year, Year of the Ox, and it was snowing heavily that night.

Before Camilla’s blood sugar could be properly managed, she got a serious infection and experienced four blood transfusions. There were many moments when we feared we might lose her. It was an unimaginably tough start to life for Camilla and for us. For the first time in my 32 years, I felt a kind of pain I had never known before. Deep, overwhelming pain.

resilience while living with HI

Camilla Was Tougher Than the Disease

After two and a half months in the hospital, we were happy to finally bring Camilla home. But along with the joy came a deep sense of anxiety—we now had to manage her blood sugar levels on our own.

Just one month later, we had to call an ambulance when Camilla’s blood sugar dropped to 2.1 mmol/L. However, she was still giggling and showed no symptoms of hypoglycemia, a reminder of how unpredictable and silent the condition can be.

In those early days, we were up multiple times every night because of alarms warning us of low blood sugar. Camilla was dependent on tube feeding and often vomited, which made things even more difficult.

Henrik, her doctor, recommended starting Octreotide to help stabilize her blood sugar. Camilla received it through an insulin pump for the first year and a half, then transitioned to monthly long-acting release (LAR) injections.

Camilla reached several major milestones by the time she was 17 months old. She was finally able to stop using the Octreotide pump. She started walking and was evaluated as developing normally, allowing us to stop her physical therapy sessions. When she was first assessed at four months, the report showed a two-month developmental delay. But the most exciting milestone came after three weeks of intensive oral training: Camilla began eating by mouth. We were so happy. It meant she no longer vomited at every meal and could start eating like other children.

As Camilla’s condition gradually stabilized, we gained the confidence to have another child. Since there was a 25% chance that any of our children could inherit CHI, we had genetic testing done for our second daughter, Rebekka, when I was 10 weeks pregnant. We were relieved to learn that Rebekka did not inherit the condition.

two children and parents sharing real stories about living with HI

Strength in Life with CHI

I know that every family’s CHI journey is different. For us, it has been filled with challenges, growth, and gratitude. We’re thankful Camilla received an early diagnosis and treatment, and we’ve been surrounded by incredible support.

Although she still has daily episodes of hypoglycemia, Camilla continues to amaze us with her strength. This year, we joined a medical trial and contribute to the HI Global Registry (HIGR) because we believe our experiences can help others. Each update we provide is a small but meaningful step toward better treatments, not only for Camilla but for children worldwide.

Even at her age, we tell Camilla she’s helping doctors understand her condition. One day, we hope she’ll be proud that her story played a part in shaping the future of CHI care.

As an anthropologist, I’m now applying for a research project focused on caregiving in CHI families across cultures. I also run a Chinese-language online community and serve as a HIGR ambassador to raise awareness and share knowledge globally.

I hope for a better world for all children with rare diseases—one with better treatments, stronger families, and a more compassionate society.

Hi Global Registry Ambassador Program

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