Meet Remy

On the 18^{th of} September 2023, our beautiful little girl Remy was born. A perfect 3.5kg bundle of love and adored by her big brother from day 1.

My midwife checked her APGAR (a test given to newborns soon after birth) and delightfully noted it was a 10. Over the next 4 weeks she was behaving like any newborn person would, getting used to life outside the womb. All of which was a distant memory to me as my first born was 3 years old and it all felt new again.

Each checkup for Remy was good, she had a bit of jaundice but that was normal. I thought she was a little colicky as she was quite noisy after her feeds. My son had silent reflux, so I knew the signs of any GI (gastrointestinal) discomforts, but with Remy it was different.

At the 4 week-check up with my midwife she noticed that Remy made a “laughing” sound, which we both thought was unusual as babies do not develop that till 3-4 months old but thought nothing of it. I, on the other hand, knew it was unusual, and I noticed it happens more often. Every time these would wake her, and she became very unsettled resulting in truly little sleep for both of us.

As she got older these “laughs” continued and escalated in number and intensity. It continued to wake her up from her sleep. It happened every day, at least 5 times a day, and it was mostly around the time she was due to sleep or just after she had fallen asleep.

When we had her checkups with Plunket (a clinic service offered in New Zealand), I brought it up again and each visit there-after, but the nurse did not understand what it was (neither did I) or how to help with it. The consensus was that it was her version of colic, and we tried every remedy available to try to help her.

At 6 months old the “colic” never subsided. We had a serious conversation with our GP (general practitioner) about it and urgently requested an appointment with a pediatrician. We needed answers because we were bewildered, confused and exhausted.

We managed to get the appointment but a few days after the original GP (general practitioner) visit, she had 10 episodes by 2pm. Immediately, I knew I had to take her to see a specialist, so the next day I took her to Starships Children’s Hospital in Auckland.

At the hospital I was consulted by the head of neurology, a pediatric neurologist and one of the head nurses. After explaining the symptoms and showing them video footage of the episodes (thankfully I took a few when I could). They concluded that it presented like gelastic seizures but only an EEG and MRI could confirm. They scheduled the EEG, took some blood tests and told us to continue seeing the pediatrician going forward.

Thankfully we had the pediatrician appointment two weeks later all while her seizures were still presenting. We tried managing them by making sure she didn’t become too over tired or overstimulated in the day, in hopes it would result in better sleep. At this point I had stopped all the over-the-counter medication recommended for colic.

The Pediatrician examined Remy and was pleased she was developing as any child her age should. He wasn’t pleased that they didn’t do an MRI, in his opinion it is the only way to conclusively rule out that she has a Hypothalamic Hamartoma.

We kept in contact with the pediatrician and notified him of how many episodes she had each week, since they were not lessening or stopping consistently, he then put her on the waiting list for an MRI.

In November 2024 we had her MRI which confirmed that she had a small – medium sized HH and they started her treatment immediately (Lamotrigine) and we met with a pediatric neurologist that has been managing her treatment journey since. She recommended we start planning for surgery in the background while we wait to see If the medication would work.

Since starting the medication, we noticed within 2 weeks her episodes had decreased quite a bit, which we were pleased with (yay, finally we all got to sleep!). We also noticed that if she had not slept very well the night before, was feeling ill or became overtired she would have multiple episodes the next day and the following day. Since the episodes did not stop completely, the plan for surgery was still in motion. The neurologist contacted surgeons in the US and Australia that have done and are still doing the laser ablation.

We also met with an endocrinologist at Starships Hospital and the tests done thankfully confirmed that she was not at risk for precocious puberty, however they will continue to monitor. Remy has comfortably reached her maximum dosage of Lamotrigine, we have met with a surgeon in Sydney, and they will be doing laser ablation surgery in September. The Dr reassured us that she has a great chance of being seizure free with an 80% surgery success rate for the surgery they have done in the last 18 months.

It has been a difficult season for us as a family, but we are so thankful to God for His provision and faithfulness during it all and for the pediatrician and the team at Starships Hospital. Her surgery is booked for 16th September 2025 with Dr. Mark Dexter at Westmead Hospital. Thankfully it will be covered by New Zealand Health Department which is a huge relief as that would have been a huge cost for us – we have only lived in New Zealand for 2.5 years.

We look forward to Remy being seizure free! To any parent currently experiencing this, trust your instinct and advocate for your child if you are not being heard by physicians. It is hard but the earlier you get a diagnosis the better it is for both you and your child.