JEANS for Genes Day on September 18 will raise vital funds for children with genetic disorders in the UK.

And two-year-old Hannah Pender, from Pollok is just one example of who the charity supports.

Hannah has an extremely rare chromosome disorder called 8p inverted duplication/deletion syndrome, which causes global developmental delays.

This means that there is an extra copy of part of the genetic material and a missing copy of another part of the genetic material on chromosome 8.

Hannah was diagnosed with the genetic condition at 20 months old but mum Rebecca Pender, 27, immediately suspected something was wrong with her first born despite doctors reassuring her Hannah was fine.

She said: “My husband John and I were really sure there was something wrong. We kept saying this to the doctors and we thought it was due to the difficult birth, but we were told she was OK.

“Over the coming weeks she didn’t meet any of those baby milestones. She didn’t bear any weight on her legs, didn’t make any sounds and her head was still moulded at four months old. “

“As she got older I tried not to compare her with my friends’ babies who were developing normally. “It was very upsetting and hard to put into words exactly what was wrong with Hannah. She just wasn’t progressing like the other babies were.”

After several months of no answers, Hannah was diagnosed with an extremely rare chromosome disorder called 8p inverted duplication/deletion syndrome.

This genetic fault had occurred around the time of conception and was not hereditary or caused by a difficult birth.

Rebecca said: “I felt relieved to have a diagnosis, although it wasn’t the diagnosis I was expecting.

“It wasn’t my fault and all the guilt I’d been carrying melted away.

“Hannah walked at 22 months, even though we were told she wouldn’t walk until 3–5 years.

“She has a handful of words too, including ‘Daddy’, ‘bed’ and ‘Mammy’, but she is significantly affected by the condition.

“She has problems processing and learning, so it takes her a long time to learn things.

“However, she is a very headstrong person and wants to do everything for herself, so she finds ways to communicate what she needs.”

Hannah’s condition has not always been easy for the Pender family after a series of seizures left the family reeling.

Rebecca described once instance. She said: “I ran from one end of the hospital to another carrying Hannah while she was fitting.

“It took 15 doctors 40 minutes to get the seizure to stop and another two hours to stabilise her.

“She had aspirated her stomach contents into her lungs during the febrile convulsion. The doctors didn’t think she would make it through the night.

“She was in an induced coma for five days.”

Since then the family has found support from the charity Unique, which will receive a grant from Jeans for Genes Day this year.

Rebecca said: “The support we’ve had from Unique has been invaluable.

“They know more than the geneticists about these very rare conditions.”

The Pender family are looking to the future and welcomed another baby girl, Molly, in April- a sister for Hannah.

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