Crombie girl, 7, diagnosed with rare genetic disease

Little Mhairi-Jayne Allison has been diagnosed with Phelan McDermid Syndrome, which has led to her having developmental and mobility problems as well as autism.

Mum Jaynie wants to raise awareness of the little-known condition and has started a blog to help others find out about it.

"I think there's around 20 people in Scotland with it so she is really quite rare although it is a genetic syndrome," she said. "They think that one thing with Phelan McDermid is that is causes autism.

"There is a fair amount of information around about it even though it was only discovered in the eighties. The Phelan McDermid Syndrome Foundation gave us loads of information and we have been on three family days and there is also an international community. It is a small community but it really, really embraces you. We are in contact with families from America."

For Mhairi-Jayne, the diagnosis came after other conditions were ruled out.

"There is a real unknown factor in that when she was five, she had a pretty horrible regression and couldn't walk. At that point, we didn't have the genetic diagnosis and she was being tested for muscular dystrophy but she got the skills back and that left her behind developmentally," explained Jaynie, who is married to Chris and also has two sons, nine-year-old Breannain and Fergus, four.

"It was a relief to get the diagnosis but it was complete devastation as well. On the one hand, it was like we knew what we were dealing with, we can get her support and have more of an idea of what her future may hold and what can be put in place but at the same time, it is, 'Oh my God, no'.

"She has low muscle tone and hypermobility. It makes her very clumsy. We have to deal with meltdowns. She has been toilet-trained but one of the not so nice things is regressions in bigger skills which is quite common. She was potty-trained at two-and-a-half or three and completely regressed and has never been able to get it back.

"She is an incredible little kid. She is semi-verbal in that she can talk. A lot of that is she echoes what is being said. If you ask a direct question, she can't answer, although sometimes she can surprise you. She chats and tells stories all the time.

"Her brother said she talks all the time but she doesn't really say very much. For a four-year-old to come out with that is a really good description. She understands but struggles to express which can be a cause of frustration.

"If she is in pain, it is not the type of thing she can tell us."

Despite the condition, seven-year-old Mhari-Jayne is now looking forward to starting in Primary 3 at Limekilns Primary

"She goes to mainstream school and has pretty much one-on-one support. She loves school and thrives on the routine. It can be really difficult for her when it is holiday time."

Because Mhairi-Jayne looks like any other child, Jaynie is keen to ensure as many people as possible know about her condition so that they are able to help if the need arises.

Last month, she had managed to get out of their home and found herself in the village's community garden where local residents looked after her until Jaynie arrived.

"I realised quite early on that sharing the challenges we have is a good idea," she said. "She looks normal so people assume everything is fine but obviously she is exceptionally vulnerable. She is learning-disabled and has a very, very young mind compared to her body but she still has ideas of what she wants to do but she has no danger perception whatsoever.

"She is fast and when she decides to go she is gone. She went over to the community garden. When I found here there, she was sat at the table with three lovely women. She hadn't said anything to them but she had a lot of chocolate biscuits.

"They were so lovely and so understanding and their reaction was so kind."

Jaynie's blog can be found on Facebook by searching Phelan Lucky with MJ & The Brothers.