Riley Rose's Story

Riley Rose was born in Sydney, Australia one week overdue, weighed 2.5kg and was 46cm tall. Prior to birth all tests and scans were normal. After 15 hours labour she started to become in distress and was delivered via emergency cesarean section. She was not breathing and was placed in the NICU on a ventilator and subsequent oxygen support for a day. She spent her first 5 weeks of life in hospital. It was a traumatic start to life for everyone involved. She was always too weak to be able to suck successfully from the breast. She was released from the NICU only after she was capable of feeding from a bottle instead of an NG tube.

She was diagnosed day 1 with multiple congenital abnormalities, of which included Sagittal Craniosynostosis, enlarged ventricles, polymicrogyria, periventricular nodule grey matter heterotopia (PVNH), horseshoe joined kidneys, hypotonia, hypermobility in her joints, her acetabulum were not forming correctly, vision impairment, hearing impairment, global developmental delays and started having seizures post cranial vault reconstruction (CVR) surgery at 17 months. Her seizures are currently controlled with Keppra.

Her official ZTTK diagnosis came at 17 months after two failed DNA arrays and was discovered by a researcher through Exome sequencing.

She didn’t roll until almost 2 years of age, she started commando crawling just before 3 yrs, 4 point crawling at 4.5 yrs and can stand and walk equipment assisted only at 5 yrs.

She started on solids at 6 months, stopped bottle feeding breast milk at 13 months and moved onto normal cows milk. She was diagnosed with failure to thrive and has mostly been on or below the 1st centile for growth and weight. At age 5 she is 91cm tall and weighs 11kg. Even though she is not deficient in growth hormone, she began taking it via injection at age 2 and will continue until her doctors decide otherwise. It turned out to be a great success in improving her growth rate and muscle development.

She has had early intervention therapy since 6 months of age, which have included Speech Pathology, Physical Therapy, Occupational Therapy, Music Therapy, Hydrotherapy and Equine Therapy riding. She wears a DMO suit and AFOs for any physical activity. She has a standing frame, a walking frame, a high low special seating system and will be getting her first wheelchair soon. She will require adult propulsion and we will begin working to teach her self-propulsion if she is able.

She is non-verbal (makes various nonsensical sounds only) and can do one key word sign for finished as well as shake her head for no. She can also clap and wave. She started at special school at 4.5 yrs and learnt to point right away.

She mouths everything given to her, sucks on her fingers and bites herself when upset or frustrated. She seems to know her limitations and gives up on tasks very quickly if she can’t accomplish them right away. She’s very empathetic and gets upset when other children are upset. She loves looking at and turning the pages to books.

In general she is a smiley and happy little individual who craves attention from adults near her especially and foremost from her mother. She makes and holds eye contact extremely well. She loves touching faces, eyes and hair. Her happiest place is in the arms of someone walking around. She will watch other children and adults intently to see what they are doing. She loves her family, little sister and her dog.