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Ivy’s Story 


Born: 2019 / Age: 4

Country: Australia 

Journey to diagnosis

When Ivy was 1 year old, we noticed she wasn’t putting on weight and growing, and this is when our journey began. Ivy’s weight was always small on the 5th percentile but over 12 months it dropped down to the 1st percentile. Her height was sitting on the 10th percentile, and she stopped growing at 12 months of age. Ivy was found to have hip dysplasia at 2 months and was put in a brace. We also referred Ivy to a physiotherapist at 12 months as she was diagnosed with hypermobility and feet splaying out for which she has had to continually wear specialized orthotic shoes to help with balance. Ivy was diagnosed with failure to thrive at 12 months due to her lack of progression.


Ivy loves to read books, draw/paint and go to the shops. She loves going on adventures and spending time with family. She has a real daredevil streak and loves to climb and explore.

This is when we went for tests and referrals. We had standard tests, Microarrays and Fragile X done first. We were then sent off to see a gastroenterologist, to see if there were any internal physical issue and to test for coeliac disease and at 18 months of age Ivy underwent a gastroscopy which lead us to a dead end.

At 2 years, Ivy was still not growing and gaining weight and was sitting below all charts, so we were referred to see genetics. We were sent off for Russell Silver testing and facial measurements. This lead us to another dead end. We then did a whole exome sequencing test on our daughter and ourselves. This is when we discovered Ivy has CUL3 Neurodevelopmental Disorder with or without autism and seizures. This is also when we found out I (Ivy’s Mum) has a mosaic version of CUL3. Ivy’s older brother (11), has also now been tested and found to not have CUL3.

We had also begun to notice delays in Ivy’s speech at 2 years of age. We saw speech therapists who diagnosed Ivy as delayed in her receptive and expressive language skills. Just prior to 3 years of age, Ivy has begun wearing glasses due to her (R) eye turning in. This may be from her father who has had childhood vision issues and always worn glasses since he was 4.

We are currently awaiting tests for ASD as we are showing many signs of this disorder. Ivy’s older brother has both ADHD and ASD (high functioning). We are on a wait list for cardiology and opthalmology.

Current challenges

We know our journey is far from over. We are on the NDIS (National Disability Insurance Scheme) and we continue to see speech and physio therapists. We are now on a complex medical team at the RCH (Royal Childrens Hospital – Melbourne), for dietitians, endocrinologists, and medical doctors. We are unsure how CUL3 will affect her as she gets older and what other supports she may need. CUL3 is very new to us all and doctors too. We will continue to advocate for our daughter and spread the word of CUL3 neurodevelopmental disorder to help us and others in the future.

Reflections & hopes for the future

Ivy surprises us everyday with progress she has made. Ivy never gives up and keeps up with other children her age and has a real dare devil attitude. Ivy is very resilient, always smiling and a happy child. We are so grateful for the support we receive from other families on the CUL3 group and we will continue to advocate for our daughter and other families around the world.

Last updated 2023

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