Ms Lorraine Dempsey:

I thank the Chairman and the members of the joint committee for inviting me to speak on behalf of the Special Needs Parents Association, which is a parent-led voluntary organisation with charitable status. It was established by parents from all over Ireland to represent the views of the parents of people with special needs and disabilities, regardless of their age or diagnosis. Our main objective is to support all parents of people with special needs and disabilities by providing information and peer support. In keeping with this objective, we strongly advocate an ethos of collaboration with other representative organisations and support groups in this field. We thank the committee for inviting us to address it today, alongside the other organisations that are represented here.
Children and adults with rare disorders do not necessarily have a disability as defined in the Disability Act 2005. In some cases, their main interaction with the health system is almost exclusively at hospital-based tertiary care level, led out by specialist clinical teams. The members of the Special Needs Parents Association have children with rare diseases who fall into the category of having a disability or a special educational need. They are the area of our focus in this submission. Regardless of when parents initially learn their child is not developing as expected - he or she may present with complex medical needs or be diagnosed pre-natally or immediately post-natally - the pathway to be followed can differ dramatically. Depending on the nature of the condition, the pathway can be relatively well laid-out or can be highly complex. In the case of patients with rare diseases, establishing a precise diagnosis and initiating a treatment are typically not straightforward. Additional expertise is often required, but it is not necessarily readily available in Ireland.
I propose to speak about five areas that have been identified by our members - the parents of children with rare diseases - as being problematic, namely, information, genetic testing and counselling, disability services, paediatric home care and special educational supports. Quite often, especially in cases of extremely rare disorders, the available and possibly useful information for parents whose children have rare diseases is not easily accessible or readily signposted. This is a source of frustration for parents who inadvertently end up embarking on their own Internet searches. This should be done with extreme caution, as it can cause undue distress to parents who are not readily predisposed to reading medical journals and research papers which, for example, may refer to a particular chromosome. We dealt with the case of a parent who googled a genetic anomaly that had been identified through testing and came upon an Italian research paper that referenced the chromosome in relation to the development of breast cancer. Although this had absolutely nothing to do with the genetic condition the child had been diagnosed with, the parent lived with the fear that the child was facing a gruesome prognosis until we provided a more relevant source of information and support, albeit based in the United States.
Several valuable websites provide information and family profiles of children with genetic and rare disorders, or, in the case of SWAN UK, children who have syndromes without names. Some parents have expressed disappointment and frustration about being handed a leaflet by a genetic counsellor directing them to an organisation like Unique and having to source all information by themselves thereafter. I do not doubt the intention is not to cause further distress to families, but that is the outcome. The genetic teams are concerned with having the time and resources to be in a position to provide an information pack to those who receive a diagnosis. The section of our presentation dealing with genetic testing and counselling makes it clear that the time lag between diagnosis and genetic counselling inadvertently leads to families having to fend for themselves and depend on their own capacity to source information and analyse its relevance. I will read some quotes from parents throughout this presentation. One parent told us that a neurologist "gave us the diagnosis but knew nothing about the syndrome and said the genetics centre [would] go through it with us". This parent received a letter saying "they will see us in 14 months" and was "literally left to google to find out everything myself". Our association has developed a page on its website dedicated to rare disorders, which lists useful websites where parents can begin their searches. As a voluntary organisation, we do not have the specific resources required to assist every parent in need of very specific and often technically presented medical information. Therefore, we refer parents to other bodies, such as the Genetic and Rare Disorders Organisation.
An investigation that was published by RehabCare in 2008 looked at the social support needs of families on the island of Ireland that have children with rare disorders. It found that "specialist health professionals involved in this research agreed that the information they have on rare disorders can often be in an unsuitable format for parents and that support is needed to help them translate information and compile it for families". The submission I have furnished to the joint committee provides various statistics on medical professionals at tertiary and primary levels, in terms of the information they knew and the deficits thereafter. The RehabCare investigation stated:

All of the family participants in this research had either used the internet to access information on the relevant rare disorder or had a friend who got them information from the internet; 60.3 per cent of the GPs who cited where they sourced their information on rare disorders stated that the internet was their primary tool. This research has reported on the strengths as well as the risks of internet usage in searching for information on rare disorders.

This further endorses our call for the establishment of a national rare diseases office.
All that we can offer to the parents of children without a diagnosis is peer support to prevent the isolation experienced by many parents who have no specific group to which to belong. We are aware that non-governmental organisations involved with rare diseases have a significant role in the dissemination of information and the provision of public support. In the cases of many rare diseases, these organisations are led by parents or patients on a voluntary basis with the primary function of providing information and peer support. They do not necessarily fit the criteria for many of the funding schemes that are available. While they serve a valuable function by providing information and support, they are precluded from applying for funding unless they embark on particular projects, which typically require them to provide matching funding. This is not a possibility for many of the smaller groups that represent individual rare syndromes. Such groups are typically run by parents who dedicate their time to addressing the needs of their own children and supporting the needs of other families. We would welcome a funding scheme of minor grants specifically for the purposes of supporting small voluntary organisations and groups involved in the provision of peer support and information.
I will move on to speaking about genetic testing and counselling. From a practical perspective, waiting times for genetic testing and subsequent genetic counselling have been particularly problematic for families who have to work within the current system, in which diagnosis is essential if educational and therapeutic supports are to be obtained. We must also consider the psychological impact of waiting for answers over lengthy periods, which can sometimes be measured in years rather than months. This could be alleviated by increasing the staffing resources in genetic centres. We have been contacted by a parent who has told us that the waiting list for the geneticist in Crumlin was nearly two years. This person's daughter was referred in October 2012 and again in June 2013 and is still waiting. The parents have been told they will be waiting a year to see the genetic counsellor to discuss the diagnosis if they are prepared to travel to Dublin. Alternatively, they will have to wait over a year and half to see the genetic counsellor in the local hospital.
I would like to comment on disability services. If a child requires a referral for interventions from primary care and disability services, the pathway can be fraught with difficulties depending on the area in which they live and the child's clinical diagnosis. It would not be unusual for consultants to have to write more than one letter to these services impressing on them the need for patients to receive therapeutic interventions to maximise their potential and minimise the adverse effects of inaction. I will quote from another parent:

I have a 4yr old with 3p syndrome. She has a lot of issues [including] low muscle tone, moderate hearing, wears glasses, developmentally delayed, not toilet trained. She has a few words so far so communicating to anyone outside the home is very tough for her. She's never been assessed by an Occupational Therapist, gets minimal speech therapy even though Temple Street sent letters stating she needs a lot of therapy as she has sensory issues especially regarding food. I'm at my wits end due to lack of therapy for her and she's pushed round from pillar to post as no one has heard of her syndrome. She's such a pleasant child [and] my heart is broken [that] she cannot communicate.

The difficulty from the perspective of primary care teams and disability services is one of capacity. The overwhelming response from the services surveyed was that they did not have sufficient staff resources to respond to the number of referrals and to meet the range of complex needs of children and their families. The current moratorium and removal of the exemption of clinical staff also impacts severely on the services and supports that can be provided, and this applies to the other relevant levels of services such as primary care and specialist services. This was discussed last year in the paper on team composition and progressing children's disability services. While a further 80 new therapeutic posts have been sanctioned by the HSE this month, professional deficits in the composition of fully staffed multidisciplinary disability network teams and primary care teams will undoubtedly lead to a continuation of lengthy waiting lists and gaps in therapeutic interventions, despite having rolled out an ambitious and the largest national health reform for the delivery of services for children with a disability, which will progress disability services for children and young persons. We are calling for a breakdown of figures of the professional gaps and exact deficit in the number of posts required to fully staff the new disability network teams being established in each HSE area and at primary care level. Without a further plan to provide additional resources, this programme of reform will only address the issues of equity of access to services based on need but will be unable to provide an adequate level of services which could be deemed to be a success.
The Jack and Jill Children's Foundation has been the most vocal organisation in lobbying for more budgetary resources to be allocated to the area of paediatric home care. Not every child falls under the criteria to receive nursing support from the Jack and Jill Children's Foundation, and these children often find themselves in limbo in our paediatric hospitals for longer than 12 months awaiting funding for home care packages. There are very poor budgetary provisions for home care for children who have rare disorders but also for children with disabilities who are under the age of 18. In some areas it has been reported that there is no specific budget. Families will continue to struggle practically, psychologically, socially and financially. If this is coupled with the isolation that many parents of children with rare diseases experience regularly, parents will battle with mental health difficulties, marital breakdown and often a dependency on social welfare supports while living well below a level of subsistence as carers. There is no alternative for them unless the Government gives priority to supporting our families to allow them a better quality of life and options to continue with employment to support their families financially in the long term. It is fiscally counter-productive to lose a taxpayer because he or she has no alternative but to stay at home to care for his or her child when home care is cited as the only reason. It is fiscally counter-productive to have a child receiving more expensive hospital care when the development of less costly community-based care would save the Exchequer long term.
One of the areas not immediately considered as a special educational support is nursing care This is not an area within the committee's remit but it is an allied support. Traditionally, nursing care in schools was confined to special schools where the patron was a disability service provider and the post of school nurse was funded through the allocated HSE budget for the service. Some consideration needs to be given to establishing a school nursing scheme funded through the Department of Education and Skills or possibly the Department of Health to cater for the high medical needs of children presenting in mainstream education owing to the promotion of the Government policy of inclusion and also in special schools where there is an ad hocprovision of nursing posts. There is no reason other than funding that would prevent a child requiring tracheotomy care, tube feeding, oxygen therapy, with seizure activity and administration of regular medications, from attending mainstream education. Teachers and special needs assistants cannot be held professionally accountable or responsible for the complex medical needs of children who may not be a right fit academically for a placement in a special school. Also to be considered is the demand on spaces in special schools, particularly in the Dublin area, which do not have adequate placements available to cater for the increasing numbers of children with complex medical needs.
With the push towards inclusion, we should not accept that some children are left at home because they cannot be catered for. In Donegal, the HSE decision in 2012 and 2013 to implement a planned staged closure of two special preschools under the banner of inclusion came with an acknowledgement that 5% of children attending would not be able to avail of the ECCE scheme in mainstream preschools as their medical needs would be deemed too complex to cater for without nursing support. All these children come under the category of rare disorders. The option for that 5% of children is to stay at home in the formative years while their peers avail of what all children are supposedly entitled to. A policy of inclusion must be adequately resourced if all children are to be given equal opportunities.
The issue of allocation of teaching supports is being addressed by the Department of Education and Skills and the National Council for Special Education which is expected to complete the proposals for a new model of teaching allocations over the next few months. The premise of the new model is that special teaching supports will be allocated on the basis of educational need rather than the current model of allocations based on category of disability. This is of particular relevance to children who have syndromes without names, are awaiting diagnosis or whose diagnosis and needs are complex yet do not fall into the relevant categories for the allocation of resource hours. The SNPA has been involved in the consultation process for the development of a new model and has attended subsequent meetings with the NCSE. As we are a cross-disability organisation, we have been the only voice for the many parents who have no other representative organisation due to the rarity of their children's conditions, and we wholly endorse a model of teaching allocations based on a child's needs and not what box is ticked on an administrative form.
Governments are in a position to make improvements in general areas such as quality and accessibility of health care, the promotion of research, and the screening for and, in certain cases, the prevention of rare diseases. The Government has it within its gift to ensure all aspects of the strategy are implemented to vastly improve the outcomes both clinically and holistically. Only those living with a rare disease have the direct experience of how it has affected them and their families The strategy on rare diseases is significant but only an element in the overall system of supporting children, adults and their families dealing with rare diseases in Ireland. The SNPA is dedicated to collaborating with other agencies and organisations in the promotion of the implementation of the Irish strategy on rare diseases.