Joshua, who was diagnosed with Type 1 of Pontocerebellar Hypoplasia three weeks after his birth on August 12, passed away peacefully in his sleep surrounded by his family at Ninewells Hospital in Dundee on November 22.

Joshua had the most aggressive form of the condition which affects the development of the brain, as well as suffering from other brain abnormalities. Type 1 of the disease is so rare that neurologists could only find one other recent similar case, of an infant in Israel. Doctors and researchers will be comparing Joshua's genetic make-up with this child.

Joshua's funeral was held last Friday in Crieff, where his parents now live, and donations by those who attended has raised £1,000 for the special care baby unit at the Dundee hospital.

In a poignant gesture of thanks to the medical staff who treated their second son, the Deeths will be buying Christmas presents for Joshua and will gift them to the children's ward where he died.

Joshua's 29-year-old mother explained that her youngest son was born three weeks early at the midwife-led unit Perth Royal Infirmary when her husband Stephen was off-shore working. The doctors first thought the baby had an infection.

The sick infant was transferred to Ninewells Hospital where he was treated at the special care baby unit for three weeks before he was diagnosed with the fatal condition aftrer a number of tests and procedures.

It was originally thought he had the less aggressive Type 2 strain.

His parents were only told on Wednesday November 18 that Joshua had Type 1 and that he had months to live. However, Joshua deteriorated and he passed away just four days later on the Sunday in the children's ward.

"Stephen and myself were with him. He actually just had his nappy on, and I sat holding him with no top on, so we were skin-to-skin. He was very peaceful, very comfortable, he just went to sleep," said Nicola.

The family were then able to take Joshua home and care for him before his funeral.

"That was very important to us as he had never been at home for very long and it was important for us to have him there," said Nicola.

Nicola explained her baby spent half his life in hospital - including a week at Yorkhill in Glasgow, but was able to go home with his parents and older brother Charlie (2) and have some time together as a family.

However, his condition worsened at home and he was taken back in where the final diagnosis of Type 1 was made.

Nicola said the doctors, who had to read up about the condition, explained to her that someone has more chance of winning the lottery than having this illness.

Nicola, who is a midwife, said that caring for their older son Charlie, has kept her going following the bereavement. She also paid tribute to the tremendous support they have received from their families and the "amazing" medical teams.

"We had a fantastic neurologist, Dr Jollands, she wasn't just our doctor, she became like a friend to us and we went on a journey which we took together. That is exactly what she did for us," said Nicola.

Nicola hopes the planned Joshua Foundation will give support and much-needed information to other families affected by the condition.

"We are looking into setting up a trust for him, called the Joshua Foundation. We want to set up a fund to try to get more information for families all over the world affected by Type 1. That is what we want to do for Joshua," she said.

"Because it is so rare there is not really any research into this particular condition and there are no support groups."

The family is also hoping to set up a website with a view to forming a network for other families who have a child with Type 1 and Type 2.

Nicola and her 30-year-old husband were both born and brought up in Tain. They got married in 2006, moved to Crieff two years ago and maintain strong family links in Tain, where several relations still live.

Nicola said the £1,000 raised at the funeral will go to the special baby unit where Joshua was first diagnosed.

The money that would have been spent on the adults of the wider family this Christmas will also be donated to the Dundee hospital.

Christmas presents will also be bought for Joshua and donated to the hospital, which has a new play area.

"Joshua is still going to get his Christmas presents and birthday presents and we will take them up to the hospital every year," said his mum.

l.bradshaw@rsjournal.co.uk

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