Nessa Cosgrove (Labour) | Oireachtas source

Cuirim fáilte roimh an Aire Stáit. World Down Syndrome Day took place on 21 March and many of us will have celebrated in all our constituencies with wonderful music and dance. There were performances celebrating World Down Syndrome Day, and I was fortunate to attend a wonderful event in Sligo Town Hall.

When I was there, I spoke to the mother of a young person, Constance. Constance is now aged 20 and has Down's syndrome. Constance has always been a very bright and enthusiastic child who has made really good and consistent progress in her development and mastery of life skills. Then, about 18 months ago, Constance's progress slowed and actually started to reverse. A loss of previously acquired developmental skills in any individual, such as toileting skills, eating independently and dressing oneself, is known as regression and is naturally frightening and worrying for both the individual and the individual's family. Constance also developed behaviours that were not characteristic of her personality at all. Constance has always been a gentle, sociable and loving young woman, but suddenly she became withdrawn from her friendship group and peers, and now she has inexplicable outbursts of anger and uncontrolled inappropriate laughter.

Assessments and interventions followed from diverse health and social care professionals - therapists, physiotherapists, speech and language therapists and behavioural and occupational therapists, along with psychology and education services - all trying to help Constance's family to understand what was going on. A range of diagnoses could have explained the deterioration in Constance's quality of life. One is Down's syndrome regression disorder, which is an autoimmune disease caused by the body's response to something, perhaps an infection. People with Down's syndrome, as most of us here know, have an additional chromosome. That particular chromosome - chromosome 21 - seems to increase the frequency of autoimmune diseases, infections and brain or neurological disorders. An analogy that has been used to help me understand this is that while most of us have a hearing aid listening to what is going on in our body, people with Down's syndrome have a satellite dish, so the body's response to a simple infection can be completely overwhelming. There are other similar conditions, including Down's syndrome disintegrative disorder and paediatric acute-onset neuropsychiatric syndrome, PANS. There are a number of other conditions. With some of them, symptoms can be mirrored in one another. Sometimes, these behaviours may also be confused with autism.

If the cause of the condition varies, so do the treatment and the pathway to recovery. Currently, as testing is determined by the observation of symptoms, a treatment for one condition may be trialled while the individual is undergoing other treatments and other testing for another condition. The crux of the whole matter, however, making it very confusing, is that recovery with the right treatment is possible for this. It is crucial, though, to get an accurate and timely diagnosis. Eighteen months on from the onset of her symptoms, Constance is still undergoing assessment under the leadership of an advanced nurse practitioner. This matters because treatment in the first two years of the onset of symptoms has been shown to have a dramatic and positive impact on the outcome for the person with Down's syndrome. I ask the House to imagine if any person with a learning delay or disability were to display symptoms of suddenly not being able to toilet or dress himself or herself and bursting into these uncontrollable fits of laughter. None of us would be expected to wait for 18 months not knowing what is going on.

How can we approach this in a way that ties in with the proper assessment and diagnosis of this under the Equal Status Act and Article 25 of the United Nations Convention on the Rights of Persons with Disabilities? People should have equal access to healthcare and appropriate diagnostic treatment. This is not a criticism of the excellent staff who have helped Constance, but something is wrong. We need to equip medical professionals to work with families in promptly recognising an issue with a child or young person's development and then swiftly moving on to assessment, diagnosis and treatment.

I know I am running out of time but I call on the Minister of State to work with the HSE and the Minister for Health to set up a task force to take in a number of different professionals together to look at Down's syndrome regression disorder. Since I have brought this up - I know you are giving me extra time, a Leas-Chathaoirligh - other concerned parents have contacted me about it. There is not enough research done about it. There is treatment available in other countries. Could people who are displaying these symptoms of Down's syndrome regression disorder be directed to proper treatments in other jurisdictions? I am sorry for going over time.