‘We don’t know what to expect. He might talk, he might not, he might not even walk’

The hopeful parents of a toddler from Johnstown with two rare genetic disorders say they hope that accessing treatment abroad will help their son "live a normal life."

Daniela and Iosif Chiorean's one-year-old son, David, was diagnosed with IQSEC2 and KDM5C last year, two mutations in the x chromosome that results in severe neurodevelopmental disorders. So rare are the two conditions together, doctors do not know to what extent, the youngster will be affected.

Proud mum Daniela who says she believes the adorable little boy is "a gift from god" wants to continue his treatment in the Israeli clinic that has seen David come on leaps and bounds since he spent a week there last year.

The 16 month old who can't sit up, crawl or walk responded very well to treatments at The First Steps Method Clinic as Daniela explains:

"After Israel, David changed completely, he started being more present and open and that meant a lot to us because you have this one year old child who can't connect with you at all.

"The clinic taught us how to connect with him, how to make him present, how to engage. The difference after one week was amazing, we couldn't believe it.

"It's a very holistic approach. They think that it all starts from the parent and the parent needs to feel relaxed.

"He took part in physiotherapy, massages, positioning exercises and sensory stimulation and relaxing the nervous system was another pillar for the method."

Daniela also mum to Lara (4) started to worry about David when he wasn't hitting milestones as a newborn baby.

"We noticed about three months that he wasn't responding or engaging with us. We went to the doctor at that point and started the process. In the mean time we were in contact with the public health nurse.

He was diagnosed by the Neurology team in Temple Street when he was one.

"The tests showed that he had a genetic deletion on the x chromosome which affects ten genes from which two are important KDM5C and IQSEC2. These two deletions result in neurodevelopmental disorders, intellectual disabilities, short stature, abnormal muscle tone, behavioural problems and autism.

"The doctors can' tell how much David is going to be affected because on their database they haven't detected any other patient the same condition. David is one year and four months old but is acting like a three month old baby.

"He usually lays on his back, he is not rolling yet, he doesn't sit up. Lately he is working on his hand and head control. I noticed that he has starting banging his toys but he is not reaching for toys or banging them. He is working hard on getting up and sitting. He is a very happy and sociable boy, if you talk to him, he pays attention he starts smiling and laughing.

"I truly believe David is a gift from god and he has a special plan for him and we are just going to have to wait and see what that is."

The Johnstown mum and her husband Iosif - originally from Romania are still trying to come to terms with the diagnosis for their youngest child as Daniela explains:

"I think parents of children with disabilities all go through the same thing. I was talking to someone and it's kind of a grieving process. It starts with shock and then you can't believe what is happening.

"You go through the stages of crying, being upset because you know he is going to be different. It's like you are grieving the son you imagined. It's not that you don't love your son, but you imagine this whole life for him that he would crawl, that he would go to school, that he would marry, that he would have children of his own.

"You don't imagine that you would have a child that would need you all of the time. We don't even know what to expect. He might talk, he might not, he might not even walk."

The couple's faith and the support of their church have helped them to cope with their situation. They have also praised Enable Ireland where David access supports.

"After we found out and were in this state of shock, we attended our Romanian church in Dublin, we are part of the community there and it really really helped us," says Daniela. It has been a support for us emotionally. They prayed for us, they helped us they kept in touch.

"I found a lot of support from the Enable Ireland Team as well. Having the team here at hand to visit David and give us support, not every country has that."

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