“When visiting her one day the doctor actually turned around to me and said: ‘why do you want her home when you know she’s going to die?’ That totally broke us.”

“He told us that Lucy was going to have perhaps 6 months, if we were lucky, and we should take her home and make memories. He didn’t say it nicely, he said ‘she’s going to be spastic’, that was the term he used, and ‘take her home to die’. And then he said to me ‘why are you crying?”

“The hospital has been great at helping us too. We knew what we would be facing in advance and that really helped.”

“As an ultra rare case it can be very difficult when dealing with doctors as some refuse to accept it can even affect females.”

“It was an incredibly difficult time because the advice was that we really should end the pregnancy even though they did not know the cause of Barry’s issues.”

“We were handed a rare disease leaflet and told to go home and love our son and that was it.”

“To hear this over the phone was so unexpected. We were in shock and disbelief all weekend. The consultant and doctor should have supported us. It’s never going to be good news to hear, it completely throws your world upside down. It takes away all the hope that you have for your child and you start grieving for the life that they should have.”

“In fact, despite hating the consultant for giving us the diagnosis, we formed such a strong relationship with him that when Arlo was born, we gave him his name as his middle name. As a consultant he was so open and honest and that was really important to us. He didn’t try to sugar-coat anything. ”