Download SNPA opening statement

Presentation to the Joint Oireachtas Committee
on Health & Children
Rare Disease Day 28th February 2014
Opening Statement
Lorraine Dempsey-Chairperson Representing Special Needs Parents Association (SNPA)
SNPA is a parent led voluntary organisation with charitable status established by parents from all
over Ireland to represent the views of all parents of persons with special needs and disabilities,
regardless of their diagnosis or age. Our main objective is to support all parents of persons 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 and would like to thank the Committee Members for the invitation
to speak alongside the other organisations represented here.
Children and adults with rare disorders do not necessarily have a disability as defined by the
Disability Act 2005. For some, the main interaction with the health system will be almost exclusively
at the Tertiary Care level, led out by specialist clinical teams. Members of SNPA have children with
Rare Diseases who do fall into the category of having a disability or special educational need and
they are the area of our focus in this submission.
From the outset of a parent learning that their child is not developing as expected, presents with
complex medical needs or is diagnosed pre or immediately post-natal , the pathway that they follow
differs dramatically from relatively well laid out to highly complex depending on the nature of the
condition. In patients with a rare disease, establishing a precise diagnosis and initiating a treatment
are typically not straightforward and additional expertise is often required but not necessarily
readily available in Ireland.
The following areas have been identified by our members who are parents of children with Rare
Diseases, as problematic and will be addressed under the headings below.
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1. Information
2. Genetic Testing & Genetic Counselling
3. Disability Services
4. Paediatric Home care
5. Special educational Supports
1. Information
The available, and possibly useful, information for patients with a rare disease is often not easily
accessible or not readily signposted for parents particularly in the cases of extremely rare disorders.
This is a source of frustration for parents who inadvertently end up embarking on their own internet
searches. Such practises 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 in
particular that may make reference to a particular chromosome. For example, we dealt with a case
where a parent “Googled” the genetic anomaly identified through testing, and came upon an Italian
research paper that referenced the chromosome in relation to the development of breast cancer.
This had absolutely nothing to do with the genetic condition that her child had been diagnosed with
but she lived with the fear that her child was facing a gruesome prognosis until we provided a more
relevant source of information and support, albeit based in the USA.
There are several valuable websites providing information and family profiles of children with
genetic and rare disorders and also for syndromes without names such as SWAN UK, however
parents have expressed their disappointment and frustration that in some cases they are handed a
leaflet for one of these organisations such as Unique by a Genetic Counsellor and the information
has to be sourced by themselves thereafter. Undoubtedly, the intention isn’t to cause further
distress to families but that is the outcome. For the genetic teams, it is a question of time and
resources to be in a position to provide an information pack for those receiving a diagnosis. As
referenced below under heading 2, 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.
“Neurologist gave us the diagnosis but knew nothing about the syndrome and said the genetics
centre will go through it with us. They write and tell us they will see us in 14 months. Literally left
to google to find out everything myself”
SNPA has developed a page on our website dedicated to Rare Disorders which sets out the useful
websites where parents can begin their search however, 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, thus we would refer parents on to other organisations such as
GRDO.
“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
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them translate information and compile it for families. This view was supported by GPs surveyed
as part of the research, with 75.3 per cent stating that they experience difficulties providing
information to families about rare disorders. Of the total sample of GPs 50.4 per cent cited time
and workload pressures as the main difficulty in providing information to families about rare
disorders. A further 38.4 per cent felt that the information was available but not in an accessible
format for families and 27.6 per cent of the total sample of GPs felt that they did not know where
to look for information on rare disorders.
• 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”.
An investigation into the social support needs of families who experience rare disorders on the
island of Ireland, Rehab Care 2008
For parents who have children without a diagnosis, we can only offer peer support to prevent the
isolation expressed by many who have no specific group to “belong to”. Nongovernmental organisations involved with rare diseases have a significant role in
the dissemination of information and provision of public support. In the case of many rare diseases,
these organisations are parent or patient led on a voluntary basis with the primary function of
providing information and support. They do not necessarily fit the criteria for many of the funding
schemes available as providing information and support as a valuable function in its own right,
precludes them from applying without embarking on a particular project which typically has to have
funding matched by the group. This is not a possibility for many of the smaller groups representing
individual rare syndromes that are typically run by parents who dedicate their time between
addressing the needs of their own children and supporting the needs of other families. A funding
scheme of minor grants specifically for the purposes of supporting such small voluntary
organisations and groups involved in the provision of peer support and information would be
welcome.
2. Genetic Testing & Genetic Counselling
On a practical level, waiting times for both genetic testing and subsequent genetic counselling have
been particularly problematic for families who have to work within a current system where diagnosis
is essential to obtaining educational and therapeutic support. As well as those important factors, the
psychological impact of waiting for answers over lengthy periods of time which can sometimes be
measured in years and not months can be alleviated by an increase in staffing resources in genetic
centres.
“The waiting list for geneticist in Crumlin is nearly 2yrs. DS referred in Oct 2012 and again in June
2013 and still waiting!”…….” I have been told I'll be waiting a year to see the genetic councillor to
discuss diagnosis and that’s with me travelling to Dublin. It’s over a year and half to see him in my
local hospital”……..
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3. Disability Services
In the cases where a child requires a referral for interventions from Primary Care and Disability
Services, the pathway can be fraught with difficulties depending on what area they live in and what
the child’s clinical diagnosis is. It would not be unusual for a Consultant to have to write more than
one letter to services impressing upon them the need for their patient to receive therapeutic
interventions in order to maximise their potential and minimise adverse effects of inaction.
“I have a 4yr old with 3p syndrome. She has a lot of issues 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 my heart is broken a 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 currently have
sufficient staff resources to respond to the number of referrals and meet the range of complex
needs of children and their families. The current moratorium and removal of the exemption of
clinical staff further impacts severely on the services and supports that can be provided, which also
applies to the other relevant levels of services such as Primary Care and specialist services.”
Discussion Paper -Team Composition Progressing Children’s Disability Services 25th February 2013
While a further 80 new therapeutic posts have been sanctioned by the HSE this month, professional
deficits in in the compositions of fully staffed multi-disciplinary Network Teams and Primary Care
Teams will undoubtedly lead to a continuation of lengthy waiting lists for and gaps in therapeutic
interventions, despite having rolled out an ambitious and the largest national health reform for the
delivery of children’s’ disability services (Progressing 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 also 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
be unable to provide an adequate level of services to be deemed in any way a success.
4. Paediatric Home Care
The Jack & Jill Foundation have 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 & Jill Foundation and these children often find themselves
in limbo in our paediatric hospitals for longer than 12 months waiting funding for home care
packages. While we continue to have no specific budgets for paediatric home care in many HSE
areas and also very poor budgetary provisions for home care for under 18’s in general, families will
continue to struggle both practically, psychologically, socially and financially. Couple all of that with
the isolation that many parents of children with rare diseases express on a regular basis, you end up
dealing with parents battling with mental health difficulties, marital breakdown and often
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dependent on social welfare supports living well below a level of subsistence as carers, that they
were once used to because there is no alternative. 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 tax payer because they have no alternative but to stay at home
to care for their child when home care is cited as the only reason and it is also fiscally counterproductive to have a child receiving more expensive hospital care when the development of less
costly community based care would save the Exchequer long term.
5. Special Education Supports
One of the areas not immediately considered as a special educational support is Nursing Care.
Traditionally nursing care in schools was confined to special schools where the Patron is a disability
service provider and the post of a school nurse was funded through the allocated HSE budget of the
service. Some consideration now needs to be given to establishing a School Nursing Scheme funded
through the Department of Education in order to cater for the high medical needs of children
presenting in mainstream education owing to the promotion and Government policy of Inclusion
and also in special schools where the provision of nursing posts is ad hoc. There is no reason other
than funding that would prevent a child requiring tracheostomy care, tube feeding, oxygen therapy,
seizure activity and administration of regular medications from attending mainstream education.
Teachers and SNA’s cannot be held professionally accountable or responsible for complex medical
needs of children who academically may not be a right fit for a placement in a special school. Also,
to be considered is the demand on spaces in special schools particularly in the Dublin area where
they 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 2012/13 to close plan a staged closure of
two special pre-schools 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 main stream pre-schools as
their medical needs would be deemed too complex to cater for without nursing support. 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. If you want to pursue a policy of Inclusion, it must be adequately
resourced if all children are to be given equal opportunities.
The issue of allocation of teaching supports is currently being addressed by the Department of
Education and the National Council for Special Education who 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, awaiting diagnosis or whose diagnosis and needs are complex
yet do not fall into the relevant categories for the allocation of Resource Hours. 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
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children’s conditions and we wholly endorse a model of teaching allocations based on a child’s needs
and not what box they tick on an administrative form.
Conclusion
Governments are in a position to make improvements in general areas such as quality and
accessibility of healthcare, to promote research, and to screen for and in certain cases to prevent
rare diseases. You as our Government have it within your gift to ensure that 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 and SNPA is dedicated to
collaborating with other agencies and organisations in the promotion of the implementation of the
Irish Strategy on Rare Diseases.
Thank you
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