Rett Syndrome Association Ireland ( RSAI) submission to Joint Oireachtas Committee
on Health and Children
Venue :Dail Eireann
Date : 29th February 2012 ( International Rare Diseases Day)
Opening Statement
1. Thank the members for the opportunity to make a presentation
2. Introduce R.S.A.I. speakers – Andrew Kehoe ( Chairperson) and Stephen Tighe
3. Explanation of Rett Syndrome ( inc. CDKL5 – atypical Rett) and how it affects the girls and
their families.
Rett Syndrome is a rare neurodevelopmental disorder which primarily affects females.
Discovered in 1967 but first reference to it in an English language medical text was in 1983.
It is caused by a mutation of a gene on the X Chromosome – in most cases it is random
( rarely inherited.)
The incidence is estimated to be somewhere between 1 in 10,000-15000 female births , so
theoretically 2-3 cases could be expected in Ireland annually.
RSAI currently has 57 girls/women registered on their database - spread over 20 counties
inc Northern Ireland.
It is diagnosed by Neurologists and Geneticists by clinical observation and blood test.
It is often misdiagnosed - e.g Autism , Developmental delay , Cerebral Palsy , when clinical
observation only is used. – that is why the blood test is critical.
There are 4 recognised stages to the syndrome as follows ;
(a) Apparent normal development of the child up to 6-18 months ( can vary)
(b) Regression phase where the child looses abilities gained up to this point most notably
speech , functional hand use and mobility in general.
(c) Plateau phase where the child’s condition remains reasonably static in the post
regression state for a number of years
(d) Stage 4 - further deterioration in physical impairment most likely due to lack of
sufficient therapy / treatments after regression phase.
Symptoms include the following ;
(a) Global apraxia ( inability to perform tasks or movement on command even when
instruction is understood)
(b) No verbal communication ( except in some rare cases) and sign language , pointing or
touching devices are usually of no use due to loss of functional hand use.
(c) Some girls never walk – others learn to walk but often on their toes or with a wide gait.
Some lose the ability to walk particularly in stage 4
(d) Epilepsy – common in 60-70% of cases and can be severe
(e) Breathing irregularities / dysfunction ( breath holding & hyperventilation)
(f) Gastro intestinal complications ( constipation , reflux ) – many girls have to be tube fed.
(g) Scoliosis requiring surgery is common in a high percentage of cases .
The severity of the condition can vary from girl to girl but even in its mildest form the
girls are left profoundly and multiply disabled requiring full time care 24/7 365 days a
year for the duration of their lives.
The prognosis is not fully known and can vary – but there are recorded cases of women in
their seventies in Sweden and U.S – the oldest woman RSAI is aware of in Ireland is 42
Despite the myriad of disabilities listed above , the girls are still capable of lifelong
learning and of having happy and fulfilled lives and they play a huge role in bringing joy to
their families and all who come into contact with them.
Additional problems the girls and their families face on top of coping/living with the
disability include the following.
(A) Length of time it can take to get the first appointment with a Neurologist when initial
signs of regression appear – It can take anything from 6 to 12 months.
Also the gap between appointments thereafter is too long prolonging the length of
time it takes to get a correct diagnosis.
This process can take years and apart from it being a very traumatic experience for
the whole family , without a firm diagnosis the child cannot access vital services.
Misdiagnosis is common and can prolong this process even further
(B) At diagnosis stage many families are given little or no information ( and sometimes
incorrect information) about the condition itself but also about how to go about
accessing appropriate services.
(C) Accessing appropriate and adequate services from HSE becomes a constant battle for
all families to some extent but can vary dramatically based on geographical location.
This includes difficulties in getting everything from incontinence pads to therapies ,
mobility equipment , communication aids and respite services to name but a few.
(D) Accessing appropriate school placements and SNA allocation from Dept. of Education
is a constant struggle for families and again varies geographically. Some families have
had to resort to taking legal action to obtain adequate placement and services.
(E) Qualifying for Domicilary Care allowance , Carers allowance and medical cards is an
on-going issue. - for those who do receive these payments and rely on them as their
sole source of income , they are totally inadequate.
(F) Respite services ( home help & residential) are totally inadequate and in many cases
not available at all.
If you do not look after the Carers , the state could end up looking after their relatives
full time at a much higher cost.
(G) Inadequate facilities in our hospitals to cater for the needs of disabled people – e.g.
hoists for lifting , showering tables and changing areas.
(H) Waiting times for critical operations e.g. scoliosis – some girls have been waiting up
to 2 years while in constant pain and at risk of death in some cases.
(I) Lack of service provision for girls once they reach 18 – school leaving age.
Many end up at home full time until such time as their parents/family can no longer
look after them. – this is not acceptable.
(J) No independent inspection or regulation of service providers to the intellectually
disabled. – this is of grave concern to all parents but particularly when a child/adult
has no means of communication.
All of the above problems ( and the list is not exhaustive) are experienced by the majority of families
on an on-going basis throughout the lives of their disabled relative and compound what is already a
very stressful and pressurised situation – that of looking after a totally dependant person full time
for all of their life .
As yet there is no cure for Rett Syndrome , but the above additional issues/problems could be cured
if there was a real will on behalf of politicians and Government to do so .
At the height of the boom when there was plenty of money around , families still had to fight for all
of the above services – but with the recession , further cutbacks to services and allowances is making
an already intolerable situation even worse and the only solution we can see is that the rights and
dignity of disabled people and their Carers are finally put before budgets and resource allocations.
Why has Ireland still not ratified the UN Convention on the Rights of Persons with Disabilities
which it signed up to in 2007 ?
110 states have ratified the convention including Iraq , Armenia , Azerbaijan Bangladesh , China
Haiti and our nearest neighbour U.K - to name but a few .
As the parents / carers of multiply and profoundly disabled children & adults we can only draw one
conclusion – Recognition of the rights of disabled people has not been - and continues not to be , a
priority for Irish Governments , past and present , or for politicians in general.
This is shameful and needs to be addressed urgently.