Mum shares daughter's condition which affects 4000 worldwide

Ashleigh MacDonald, 33, from Dumbarton, was 20 weeks pregnant when she was first told that her daughter may have a rare condition called Aicardi Syndrome.

Without her partner Kyle, due to Covid regulations, Ashleigh was on her own when she was sent for extra tests to try and confirm the diagnosis.

Ashleigh and four-year-old Harley at their home in Dumbarton (Image: Gordon Terris) The rare congenital disorder causes malformations affecting the brain, eyes, and other body parts.

The condition typically results in lifelong challenges with disabilities, seizures, and other medical issues.

Ashleigh said: "I went for my 20-week scan and I was by myself without my husband.

"I was told I had to go back the next day for another scan with foetal medicine. I have got two older children so I was thinking, 'What's this about?'

"They said they couldn't get one of the measurements of her brain so they wanted to get another scan and at that point, she said there might be an enlarged ventricle. So I was sent for an MRI.

"When I got the results it was at that point that they'd mentioned Aicardi Syndrome.

"The hospital immediately offered us a termination at which both of us were shocked at the fact that that's the first thing they offer you in that situation.

"We did some research about it and we assumed she wouldn't be able to sit up, wouldn't be able to walk, wouldn't be able to talk, would be tube fed and wouldn't have much of a quality of life."

Harley was diagnosed with Aicardi Syndrome when she was a few weeks old (Image: Gordon Terris) Just days after Harley was born she underwent several tests and at 16 days old she went for an MRI scan.

It was then at an optometry appointment that it was confirmed she had two of the indicators of Aicardi Syndrome.

Harley was born in November 2020 (Image: Supplied) Ashleigh says at four years old Harley has been flourishing since she started walking in June 2023 and recently began speaking.

She added: "She's amazing. she's just smashed every single goal that we ever thought she wouldn't be able to do.

"The condition affects her massively. On a day-to-day basis, Harley has uncontrollable seizures, she has been on medication since she was a few weeks old.

"She's been hospitalised twice this year with prolonged seizures, the last one she had was an hour and 45 minutes and required two different doses of recovering aids that still didn't stop the seizure, and then she required a third loading dose of another.

"However, we are still very positive, she hadn’t walked until last June when she was two and a half, and that was something we never saw for her.

"We also never thought that she was going to have any words and then she started saying single words sporadically.

"She's still very developmentally delayed in her speech but the fact that she can have a conversation with you and has interests of her own is quite amazing.

"We're very positive about her and you probably wouldn't know how much she goes through by looking at her.

"She’s got the biggest personality in the world. She’s cheeky, she's mischievous, but she's also the kindest little girl around.

"She'll see her brother and sister coming home from school and she yells ‘My sister, my sister, my brother, my brother’ and gives them big hugs."

Dad, Kyle, is the lead coach at Clydebank FC 2017s which recently held a special night to raise awareness of Harley's condition. 

The team dressed in pink and purple to show their support and Ashleigh, who also serves as the club secretary was grateful for the support.

The initiative was done to raise awareness of Aicardi Syndrome (Image: Clydebank FC) She added: “I am overwhelmed by the support Harley received from the team.

"I am so grateful to everyone who has taken part, the awareness raised will go a long way towards supporting the children diagnosed with Aicardi Syndrome."