An angel at my table

Our daughter Orla was born in 2006, the youngest of three children. She screamed for the first seven months of her life with silent reflux and after getting through that, we thought nothing could be as bad again.

When Orla was about 10 months old, I began to notice some small things about her. She was not pointing or answering to her name. My GP agreed with me that something was not right so she was seen by a paediatrician, who referred us on to the Genetics Clinic at Temple Street Children's Hospital.

The day before her second birthday, we got a call to say that Orla had tested positive for the genetic disorder Angelman Syndrome (AS), but further tests were needed to find out which variant of the disorder she had, as she was not a typical case.

This was a massive bolt out of the blue for us. Our other children were six and nine at the time and we thought we had three healthy children.

We were advised not to go looking on the internet for information about the syndrome as it would only frighten us. Our question at that stage was where do we go from here?

The hospital was not allowed to discuss other children with the same disorder and, at that point, the doctors had not seen many cases of the variant Orla had.

We were given some research documents and a link to a UK website. I wondered where the information for Ireland was, but discovered it simply wasn't there.

Speech problems
We were not told a huge amount at that stage. Orla was developing well but we were told her speech was going to be a huge problem that would never go away.

She did not walk until she was two and a half which, socially, was a huge milestone because at least she looked like everybody else her own age then.

We found out reflux was very common in children with AS, as was the lack of speech or babbling sounds.

Even before we got a diagnosis for Orla, I knew she needed speech therapy and physiotherapy so we had already started the process of fighting for those services.

We were referred to the local St John of God Carmona service in Glenageary, Co Dublin, which happens to be just across the road from us. We were very lucky to get into the support services like speech therapy, occupational therapy and physio straight after diagnosis.

Back then, I couldn't look past three or four months ahead at a time; I think emotionally, I could not handle it. I was torn between wanting to know more about Orla's disorder and not wanting to see the reality of it. The biggest issue for us was the lack of sleep, which is a characteristic of Angelman kids.

Wake cycle
Once they come into the wake cycle, it could take them four hours to get back to sleep, where it might take you or I 10 minutes. It's to do with their brain activity.

I know that if I’m awake from 1am to 5am with Orla, there are other Angelman parents up around the world with their children too.

The ultimate goal of an Angelman child is to get people to interact with them and they will not stop until they get acknowledged. Unfortunately, their way of trying to get the attention of other small children can often be a good swift yank of their hair or a whack.

I think Orla’s disorder must surely be obvious to others as she’s not speaking but it’s not, because she is smiling and interacting. If it was more obvious, people might be more tolerant.

I think as a special needs parent, you get thick-skinned about the lack of tolerance and most people are extremely kind and supportive when they know.

Trying to talk
I will explain to other children that Orla has trouble getting her words out and is trying to talk to them because, in my view, a child is entitled to an apology and an explanation but I don't really mind about adults. People don't want to listen to your whole sob story anyway.

In Orla’s case, she understands what’s being said but has huge developmental issues. We use a mixture of sign language, communication books and a DynaVox, an electronic talking device with touch screen buttons to communicate with her.

It’s all a learning curve. I have learnt that my tone of voice will wind her up if I’m ranting at her brother to get him out the door to school. I have to try to stay calm and patient, which is not always easy when you’re trying to get children out to school and stay on top of the housework.

Orla is attending the Carmona special national school Monday to Friday, where she gets a lot of support and is coming on very well. She needs one-on-one support so is not suitable for mainstream school, for now anyway.

I decided to start a website about Orla’s story to provide a point of contact for other parents coming out of Crumlin or Temple Street children’s hospitals with a diagnosis of AS.

It was obvious to me there was a need for information and support for parents.

Another mum in Galway, Sarah Roarty, approached me about setting up a national charity and putting together a board of people with expertise. We set up Angelman Syndrome Ireland in 2011, angelman.ie.

One of the first things we did was put a parent information leaflet together to answer some of the questions parents will have straight after diagnosis.

At least now there is information and a support group available for parents if they want it.

Workshops
We hold workshops for parents, many of whom have never met another Angelman's parent or seen another Angelman's child before. We have also set up a Facebook Angelman's support page which is a great resource for parents.

Research efforts to find medication-based treatments to treat the cognitive, motor and epileptic aspects of Angelman Syndrome are going on internationally.

Myself and Sarah Roarty, chairwoman of ASI, have been to conferences in the US, and last March, we held one in Dublin. We need to keep up-to-date on the latest international research and clinical trials for our children and to try to raise awareness about Angelman Syndrome so that more research is carried out on this rare disorder.