Shauna McPhillips is 6 year old daughter of Declan and Marie McPhillips from Scotstown,
County Monaghan, and she suffers from a very rare condition known as Rett Syndrome.
It is so rare that few doctors have ever encountered it and very few know how to
diagnose it and treat it. Similarly the authorities are not fully aware of the needs
of the patient and the family and the support from Government and HSE is limited.
There is no known cure at the moment and it can demand a lifetime of 24/7, 365 days
per year care, which in this case is being provided by her family, Declan, Marie
and her sister, Sinead.
Last year a small group decided to set up a Trustee Fund so that financial assistance
would be available to Declan and Marie to provide physiotherapy and other therapies,
which would benefit Shauna and make her condition more comfortable. This has been
of great assistance to the family and has helped to ease their burden somewhat.
However we now need to replenish that fund as we want to continue to assist in the
provision of the activities, which we know improves the quality of Shauna’s life.
Her condition and data has been accepted into a research programme in the UK, the
USA and also in Australia, which may entail added expenses, but this research will
advance the knowledge of the condition and hopefully lead to a cure in the long term.
Part of our efforts to raise the funds will be a major event to be held in the Hillgrove
Hotel on Sunday May 6th 2012 at 8.30pm. We have entitled it ‘Talk Sport for Shauna’,
as we will have top personalities in various sports participating in a panel discussion
and fielding questions from the floor. The night will be chaired by RTE’s commentator,
Marty Morrissey, and TV’s personality and local girl, Grainne McElwain will also
participate. Some of the names already confirmed are: Paraic Duffy, Ard Stiúrthóir
GAA; John Delany, CEO FAI; Joe Brolly; Jarlath Burns; Niall Maguire representing
Motorsport, Shane Byrne for Rugby, and many other sporting heroes. There may well
be a few surprise appearances on the night. This promises to be a very entertaining
night for all sports people.
Tickets priced at €10 are on sale in various outlets and through clubs and we hope
that it will receive good support from the entire county and neighbouring counties.
Email me here at the site if you would like to purchase a ticket.
What is Rett Syndrome?
Rett Syndrome is a neurodevelopmental disorder affecting mainly girls and results
in severe and multiple disabilities. It is usually characterised by a period of normal
development to about 15 months followed by a phase of regression, where many skills,
such as the ability to walk, speak, and use hand functions are lost. However it is
not a degenerative disorder and these beautiful girls are capable of life-long learning
and benefit greatly from therapeutic and social activities. The fact that they cannot
communicate their feelings and needs makes it very difficult for their carers.
The Rett Association of Ireland was set up by the parents of children suffering from
Rett Syndrome. Its aim is to support families and to raise awareness of this condition
and to assist the medical, therapy and teaching professionals, who work with the
girls. The Association organises Conferences and bring International experts to speak
to the parents and professionals. They also organise neurological assessments to
help in the medical management of the condition. 18 months ago Declan McPhillips
raised almost €15,000, which was spent on taking consultants from the UK to Ireland
to carry out neuro-assessment test on Irish children with Retts. There are 60 children
officially diagnosed with Rett in Ireland though there are likely about 100 sufferers.
It effects girls mainly and there are girls, who are over 40 years of age with the
Rett Syndrome is rare with the result that the medical people have difficulty in
diagnosis and experts/researchers from the UK have been used. The Irish Government,
the HSE, Social Welfare, and authorities in general are not fully supportive of the
needs of these girls and their families as they have few guidelines to determine
the proper and most suitable assistance required. The assistance forth-coming from
the authorities at the moment is totally inadequate and is insufficient to cope with
the situation, never mind provide the help that can be of benefit to the girls. Every
effort is being made to raise the understanding of the condition among the policy
makers. The girls require 24/7 care and attention and can have serious side-effects
at times. This puts a massive strain on parents and siblings and makes family life
very very difficult at times.
Shauna McPhillip’s condition is typical of the condition and this has been medically
reported as a result of an autonomic monitoring, which was carried out by UK consultants
who were brought to Crumlin. The main symptoms of a girl with Rett Syndrome are:
a. She cannot talk
b. She has swallowing difficulties and cannot chew, which means that she needs special
c. She suffers from severe reflux.
d. She has breathing difficulties and irregular breathing patterns.
e. Developing Scoliosis (Curvature of the spine) which will require surgery.
f. No use of hands and deformities developing and the skin on her fingers is breaking
because of constant wringing of hands. (Splints have to be put on her hands and fingers
g. Constant teeth grinding
h. Low immune system to fight infections.
i. Severe constipation.
j. She has sleeping irregularities which means that she can stay awake and need care
k. She has crying spells and her sobbing can last for hours but because she cannot
communicate in any way it is impossible to tell what is causing her to cry or where
her pain is
l. She is incontinent.
m. She has little mobility and because her feet have not developed fully she has
n. She needs 24 hour – 7 day week – 366 days per year monitoring and care.
o. Changes in routine and sudden changes around her can cause severe agitation and
increase in blood pressure.
p. She could suffer a severe heart attack at any time and, in Shauna’s case, the
loss of emergency services in Monaghan General Hospital reduces her chances of survival.
q. She could develop epilepsy at any time and have recurring major seizures and again,
in Shauna’s case, the loss of local services being removed has increased the apprehension
for the parents.
r. Spine curvature will involve major surgery on a regular basis as she grows.
Please be generous for this little bundle of love.