The family of a little girl from Whitehead who was born with a rare genetic disorder are fundraising towards treatment that could significantly improve her quality of life.

One-year-old Lottie was diagnosed with TUBA1A mutation and lissencephaly Type 3 at birth.

Fewer than 200 TUBA1A cases worldwide have been reported in medical literature.

“Lottie was born on January 2, 2025 at The Royal Maternity Hospital, Belfast weighing 3lbs 14oz,” said her mum, Chelsea King. “[She was] lifeless for seven minutes until doctors brought her round. Lottie was then taken to NICU for 24 hours, then to the HDU before being transferred to Antrim neonatal.”

One-year-old Lottie lives with a number of severe conditions. Photo: Chelsea King

placeholder image — One-year-old Lottie lives with a number of severe conditions. Photo: Chelsea King

Following 18 days in the neonatal unit, Lottie came home and was bottle fed for six weeks before aspirating and having to go back into hospital with double pneumonia and a collapsed lung.

“She was unresponsive upon arrival to the hospital and had to be resuscitated,” her mum recalled. “It was after that the decision was made to tube feed her as it was no longer safe to bottle feed. After a scary two weeks in hospital, we brought her home.

“Unfortunately Lottie was only home for a few days before she was back in hospital again. Her constant vomiting had triggered her vocal cord palsy, which caused her stridor. Her stridor was so bad the doctors made the decision to send Lottie to the NICU. We were given the options to either put Lottie on a ventilator, or have a tracheostomy as she was suffocating. Thankfully she coped ok with just a Bubble CPAP.”

When Lottie’s condition failed to improve, doctors discussed palliative care options with the family.

Lottie with mum Chelsea, dad Ben, and older sisters Lily-Beth and Evie. Photo: Chelsea King

Determined she wouldn’t give up on her daughter, Chelsea did some research on a surgery called lateralisation.

The procedure made a massive difference for Lottie and after five months in the hospital, she finally got to go home.

Although seizures that she suffered in the intervening weeks are now under control, the one-year-old’s complex needs have required constant monitoring.

“Lottie has hypotonia which causes little head control; [she] can't sit up unaided and requires a massive amount of physio and oxygen at night. She is NJ fed which requires multiple X-rays to make sure it's in place,” Chelsea said. "Lottie requires chest physio and suction regularly, which we had to be trained to do.

"But despite all of her challenges, she deals with it all with such resilience. We were told she will not have much cognitive ability, but that hasn't stopped her personality from shining through with her gorgeous smiles, playing with her toys and she even gave us her first laugh at 10 months old, which we never thought we would hear.”

The family are currently fundraising with the help of charity Just4Children in order to provide specialist intensive physiotherapy for Lottie.

Click here to access the ‘Lottie the Brave’ fundraising page on JustGiving.

“We heard of Just4Children through another parent whose child also has complex needs. It will open doors for Lottie and give us more options to help her with things not offered by the NHS, and for a better quality of life,” Chelsea said.

“At the minute Lottie is doing well and making good progress; her last admission was September, and we are embracing every minute being home with her.”