Rare disorders: Waikato toddler’s journey to rare and severe CDD diagnosis

Mila Smith, 2, was diagnosed with CDKL5 deficiency disorder (CDD) in 2023. Photo / Mekka Gurnick

A 2-year-old Waikato girl was having around 30 seizures daily before being diagnosed with a rare condition, her mum said.

Mila Smith, of Hamilton, has CDKL5 deficiency disorder (CDD), a severe developmental epileptic encephalopathy, caused by mutations in the CDKL5 gene.

CDD leads to early-onset and drug-resistant seizures and significant developmental delays in cognitive, motor, speech and visual functions.

The diagnosis came after she was initially diagnosed with epilepsy at 6 weeks old, but after her condition worsened, she underwent multiple MRIs and blood tests.

While doctors awaited genetic results, Mila was sent home with her family.

At 6 months old, doctors confirmed Mila had CDD, a condition that will be with her her whole life as there is no cure.

Mekka Gurnick with her family, including Mila on the left.

Mila’s mother, Mekka Gurnick, 27, told the Waikato Herald that Mila was 3 weeks old when she noticed she was doing “abnormal movements”.

However, Gurnick said she’d had a normal pregnancy and there had been “no signs of anything wrong”.

Gurnick noticed Mila wasn’t progressing as a baby usually would, was unable to follow people with her eyes and her head control was “basically non-existent”.

She went to her GP who eventually referred her to Waikato Hospital.

As a mother of three, Gurnick said she had a “mum gut feeling and just knew something wasn’t right”.

When Mila was admitted to hospital, Gurnick said doctors “witnessed her seizures, because she was having 30 to 40 episodes a day”.

“It was just scary ... I was thinking I’m overreacting, but the seizures got more and more [frequent]”, she said.

“I started to think I was going crazy at a point.”

After the initial epilepsy diagnosis at 6 weeks old, Gurnick felt “relieved” – she was told children “usually grow out of childhood epilepsy”.

But before Mila’s discharge, doctors ordered a full genetic panel test “just to be sure”.

In the meantime, the family were trialling medication, with one showing ”no progress at all”, while the second reduced the seizures’ frequency, but made them last longer.

“In my heart, I knew something was wrong. I was anxiously waiting for the results.”

When the family received the results, Gurnick said it was the “worst news”.

“I didn’t even feel like I was in the same room ... it was an out-of-body experience.”

The neurologist explained CDD seizures couldn’t be stopped and the disease included severe developmental delays.

“It was a kick in the teeth to hear.”

Gurnick said it’s been a life-changing diagnosis. “We walked out as completely different people.”

Mekka Gurnick said there were no signs anything was wrong as her pregnancy was normal and her other girls were healthy.

They are a family of five – Mila is one of three girls, the eldest is 8 and the middle child is 4, so “juggling all three was really hard”.

“I was all hands-on Mila. I couldn’t take my eyes off her, I didn’t want to, I couldn’t sleep at night because her seizures were in her sleep.

“It was affecting parenting my other girls. My older girl was feeling it, and I didn’t know how to get out of that rut.

“I wanted to be mum, but at the same time, my 100% focus was on Mila.”

Mila’s health progress could be up and down and, currently, she had minimal control over her head, but could hold it up for short periods.

Mila was non-verbal, she said, but sometimes screamed and made noises when she was happy – she even giggled now when tickled.

Gurnick said Mila struggled a lot with her gross motor skills, her core strength was not good and she didn’t have strength in her legs or arms.

“We nearly got her sitting and then she had a massive increase in seizure activity and then she just went back to how she was.

“So I guess progress is good, but at the same time, it’s scary because as fast as she gained this little skill, it can be taken away from her so quickly.”

Gurnick said she wanted to help raise awareness of the rare condition, but also wanted to encourage funding for intensive therapies.

“As a parent, you have to trust your instincts, even when it’s hard. I knew something wasn’t right with Mila long before we had a name for it.

“Advocating for her, pushing for answers, and not giving up is what led us to her CDKL5 diagnosis.

“This is so essential for children’s development, quality of life, and independence. And if it’s not covered, people can’t afford it.”

She raised over $15,000 through a previous Givealittle page, but Mila’s needs were “ongoing”. A new page has been set up here.

According to the Epilepsy Foundation, CDKL5 deficiency disorder is a rare X-linked genetic disorder first identified in 2004.

Most people affected by CDD had seizures that began within the first months of life. Problems with the baby’s development then occur, leading to severe developmental delay, the foundation’s website said.

CDD could occur in one in 60,000 births, with four times as many females affected than males.

Malisha Kumar is a multimedia journalist based in Hamilton. She joined the Waikato Herald in 2023 after working for Radio 1XX in Whakatāne.