Our first visit to the neurologist

Uisneach was about ten months old when we got to see the consultant neurologist at Our Lady's Hospital for Sick Children in Crumlin, Dublin. When we first sought the consultation it was in relation to the shape of his head – the flatness of at the back. However, by now we were far more concerned about his developmental delay than the cosmetic look of his head. The developmental delay became the primary cause for concern. An X-ray of Uisneach's head had previously been taken, a routine examination was now conducted and bloods were taken for analysis.

The neurologist was not too concerned about the shape of the head saying it was a common enough problem with children being encouraged to sleep on their backs and that there was plenty of time for it to right itself. However, over the course of a few visits, stretched out over months, he did take on board the reports from our local pediatrician and Uisneach's physiotherapist in relation to his lack of ability to put on weight and his failure to reach his developmental milestones and his poor motor skills.

They began looking for metabolic causes. A sweat test was conducted to see if he had cystic fibrosis. This was a particularly nervous time for us as we knew from a health campaign that was underway at that time that cystic fibrosis was a life shortening illness and that Ireland at the time was poorly served in relation to facilities for treating people with the disease.  Much to our relief it was confirmed within 24 hours that he didn't have cystic fibrosis. Referrals were also made to a gastroenterologist to see if there were problems there that could be a cause of his poor weight gain and to an optimologist for a slight 'flicker' he had in his right eye. The hospital dietitian was also brought in to the loop. Uisneach was put on a high calorie diet to see if that could help with his weight gain while the other tests were underway. An MRI scan was also ordered. Finally they arranged for genetic testing to see if the cause lay there. It would take a couple of months to hear back on the results of the genetic tests.

In the meantime our physiotherapist had suggested to the neurologist that Uisneach, regardless of what they found clinically, needed more intensive therapy across a number of areas. On her suggestion the neurologist referred Uisneach to Enable Ireland for a multidisciplinary assessment and service.

Thankfully this aspect of his treatment happened fairly rapidly. We were accepted at Enable Ireland almost immediately and Uisneach's assessment started within weeks - just before Christmas 2010.