Abigail's Story | Julia's House

The two halves of Abigail’s brain didn't separate properly while I was pregnant with her. There's no underlying cause for it, and nobody could have predicted it. It was just that a gene mutated and got copied incorrectly.

Abigail was born with an extremely rare condition which affects just 1 in 170,000 children. Of these children, sadly 95 per cent will die within the first few weeks of life. She is age 14 now.

The first thing we noticed when Abigail was born was that she had a very small head. The doctors then found that she had a tongue tie and cleft palate, so sent her for further scans and investigations. She was two and a half weeks old when we found out she has Holoprosencephaly (HPE).

Donate today to help local families

“Abigail spent quite a while in the Neonatal Intensive Care Unit (NICU), mainly for feeding issues relating to her cleft palate. But since then it's just been one thing after another.”

At six months old, Abigail was still developing reasonably well when we noticed that she couldn't sit up properly. We kept thinking there was something wrong with her back. Then at nine months old, she was in hospital with croup and she was sent for a chest X-ray, where they discovered she had a curvature of the spine, fused ribs and abnormal vertebrae. Abigail has now had about a dozen surgeries.

Abigail has had feeding issues since she was a baby. We were able to bottle feed her for up to six months, but then we had to start feeding her through a tube into her nose and later through a tube into her stomach. Before her surgery, her spine would press on her stomach and limit the amount of food we could give her, so she began to lose weight which was a big worry.

She is slowly starting to regain weight and it has also created enough space in her chest cavity to accommodate adult sized lungs, which gives her a better chance in life long-term.

We first heard about Julia's House from our social worker soon after we relocated to Dorset. We have visits from our Julia's House nurse at home, and Abigail has been to several hospice sessions too. The hospice is a lovely place and she really enjoys spending time there. It’s a fun place - a home-from-home - and centred around the child and what they want to do and can do. We’ve attended some of the social events including the summer garden party, which all the Julia’s House families were invited to.

“When the Julia's House nurses and carers visit us at home, they'll play safely with Abigail, knowing just how to care for her. She just looks at them and giggles because she knows she's got someone there to do her bidding! She can be a proper little madam and knows her own mind!

“It makes a huge difference having Julia's House around to support us. They have been a lifeline for us. It gives my husband, Mark and I a little bit of time to spend with our son, Daniel, because that's difficult to do when you're sorting out feeds, medications and showers for Abigail.”

Our nurses and carers help us, so we can be with Daniel and give him our full attention. He loves having them here too, and sometimes when they are playing with Abigail, he joins in. It's lovely to see the smiles on their faces.

Other case studies

Drae's Story

At just 12 weeks-old, Drae was diagnosed with TBCK syndrome - an incredibly rare and complex neurogenetic disorder. Sadly, few children with TBCK

Paddy's Story

16 year old Paddy’s condition is a bit of a mystery. He was born with intractable epilepsy (a complex seizure disorder that doesn’t respond well to

Addy's Story

Addy’s condition is a fast thief. Our daughter is fading in front of our eyes. It feels like the two-year-old girl in the photos on my wall is not my