Greetings everyone, I’m
a bit more prompt with this issue so I will get 4 issues out again this year
(wipe of brow with relief).
Family Day – Please let
Carol or I know urgently if you are intending to come. The response so far has
not been as good as last year, how else are we going to commandeer you on to
the committee!
Included in this
newsletter is an attempt by me to explain the discovery of a CHARGE gene. I am
sure that I will have better information for the next newsletter so please
accept this for the time being. There was due to be a double article looking at
SENSE assessments from both the professional and parental viewpoint but only
the professional’s is included due to lack of space. This also means I get more
time to write the parent’s one.
Simon
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NEWS
A reminder - if you are
intending to come please let Carol know so that we can provide food and also
organise overnight accommodation if needed (paid for by the group).
We are all fairly
isolated in dealing with our children. This is an opportunity to meet other
families and say hello or share experiences and information.
This month in
Nature Genetics there was published a report by some Dutch researchers who have
discovered that there is a genetic cause to CHARGE. In 10 out of 17 children
they examined there was a mutation in the CHD7 gene. This gene I understand
belongs to a group of genes that function as relay panel that switch on/off
other genes. Apparently a defect in this process leads to problems in the early
development of embryos, hence the many problems with our children.
One of the doctors
involved in the research has indicated that subsequent to this paper the
incidence of the mutation has been found in 80% of children diagnosed with
CHARGE. It is also thought that other
genetic mutations may be found in future.
She has also
commented that providing parents of the children with CHARGE do not have this
mutation then the risk of siblings producing children with CHARGE is the same as
the rest of the population ie 1-2%, equally if a person with CHARGE and the
deletion is capable of reproduction the odds of the baby having it are very
high.
Pre natal testing by CVS (chorionic villus
sampling) is apparently
possible and accurate (CVS is where a small sample of chorionic tissue is taken
from the edge of the placenta).
Once I have a
fuller explanation I will let everyone know.
The last couple of
months have been very good for the profile of CHARGE Syndrome.
The Sun on 19th
August had an article about children that might have died but are now at
school. This featured 4 children including my daughter Jessica (shame they
couldn’t get the diagnosis/definition of CHARGE Syndrome right). She also
appeared in a very short item on volunteering regarding SENSE on ITV1. Not to
be outdone James Thomas was on C4 a week before in a similarly short item this
time regarding carers.
In addition SENSE
magazine ‘Talking Sense’ picked up on Helen Butler’s piece from the last
newsletter and reprinted it. It also included an article titled ‘Ordinary
people, extraordinary lives’ which featured 4 families including the Cowie
family and mine.
Together with SENSE
in March 2005 a creative weekend for at least 6 people between the ages of
16-26 has been arranged. The theme will be ‘looking to
the future’ - this
could be how you see your future (plans, hopes, dreams), or what you think that
Sense should be doing in say the next 50 years. You will have the chance to express yourself with some great
activities (depending on
your skills and
interests and the resources of the organisers). The weekend will finish with an exhibition or a performance.
Carol Thomas will
be writing direct (or has already) to those families within the group who have
sons/daughters who fall within the age group. If you haven’t received a letter
please contact Carol.
Carol Thomas & I
will be attending a conference next month on behalf of the group to be held in
Poitiers. This conference has been put on by CRESAM and the French CHARGE
group. I will be writing on this conference in the next issue.
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SENSE ASSESSMENTS - PROFESSIONAL vs PARENTAL VIEWPOINT
PROFESSIONAL – Gail
Deuce
I have been working for Sense South East as a consultant teacher with
the Family, Education and Advisory Service (FEAS) for almost 3 years - how time
flies.
The work proves to be quite varied, no 2 weeks are ever the same,
working with children and their families, in schools and also working with
other professionals to raise awareness and share information that will further
our understanding of deafblindness.
For myself the best part of the job has to be the direct involvement
with young children and their families. As well as visiting the children at
home or in their local educational setting, we are able to offer one-day
assessments at the Anne Wall Centre in Barnet where we are based (we are also
fortunate to be able to offer of an assessment venue near Brighton for families
in the south of our region).
Members from the FEAS team are chosen to undertake the assessment
depending on their particular areas of expertise and what will be required on
the day.
These assessment days are funded in a number of different ways. We have
ongoing arrangements with some local authorities in the region that commission
Sense services and this might include such an assessment if the family is known
to the authority. Not every authority has qualified and experienced specialist
teachers and in this situation they might fund an assessment on an individual
basis. If a family finds itself in a situation where the local authority does
not recognise that the child is deafblind and therefore requires specialist
intervention, Sense is able to offer a one-off charitably funded assessment
that will hopefully support the family in obtaining the long term support and
intervention needed.
As a professional I find these assessment days invaluable. They provide
the opportunity to work with the child and his/her family and local involved
professionals (if the parents wish them to be invited) in a setting that allows
us to relax because we have the whole day ahead of us. With time constraints
and other distractions removed we are able to focus solely on the child and
work at his/her pace and timetable. We do not use formal assessments on these
days, but prefer a child centred, play-based approach that allows us to focus
on what the child can do and then build upon these strengths.
We always talk with the parents about what they would like to gain from
the day, giving the child time to adapt to their surroundings and then the fun
begins as we start to play.
Recently Jessica and her family came to visit us for an assessment,
bringing along some members of staff from her school, and another teacher
(Keith Park) from Sense who has provided support to the family at home in the
past and into her school. It was decided that Bev Mars (Head of Service) and myself would
undertake the assessment due to our shared experience as a teacher of the deaf,
in mobility, and knowledge of CHARGE as well as both being qualified teachers
for children who are deafblind.
I was really looking forward to seeing Jessica again together with her
parents, Simon and Flo and little sister Elly as I had heard about Jessica’s
progress since I last saw her at a Sense Family Day, through emails with the
family and contact with Keith.
The first thing that struck me when Jessica arrived was her newfound
confidence on her feet, as she walked independently into the family room and
began to explore - wow! It was agreed that the focus for the day would be
Jessica’s communication and it was good to have her school one to one worker
and Speech & Language Therapist along so that we could share thoughts and
recommendations. It was lovely to see how Jessica has progressed since I last
spent time with her, and of course her little sister Elly, who is now
definitely a toddler and not a baby any longer.
We were excited to see the imitated signs that were occurring, but also
that Jessica is beginning to give some signs spontaneously. For me, another
highlight was when I was playing with Jessica setting up a train set. After
helping fit the track together, Jessica walked across the room to her mum Flo
and spontaneously signed ‘train’, sharing with her mum about her experiences. A
lovely communicative exchange had taken place.
Whilst we focussed on Jessica’s communication and identified her
strengths and aspects where Jessica needs support to develop her communication
skills further, it was important not to forget to look at the whole child -
something that is very important to use at Sense.
For example, with our knowledge and understanding of CHARGE we were also
aware of the many other factors that will be affecting Jessica’s learning.
Following a recent MRI scan Simon and Flo had told us they now knew that Jessica has no semi-circular canals. It became
clear during the day how Jessica was developing strategies to compensate for
her vestibular and proprioceptive * difficulties. However, unless she was able
to achieve a firm base and secure position, Jessica found it very difficult to
use both hands together. Clearly this would affect her ability to sign (it was
very tricky trying to ask for ‘more’ when on the see-saw!).
Jessica worked really hard during the morning and after lunch we decided
to offer water play to both girls. Elly really got down to business, demanding
‘nappy off’ and climbing into the water tray, whilst Jessica enjoyed moving between
the water tray, sand and other large apparatus. After we had said our goodbyes
it was time for Bev, Keith and myself to sit down and discuss our thoughts from
the day over a cup of tea. These days are always exhausting, but we feel,
worthwhile.
We always hope that the day will have been encouraging for all those who
attended. We talked about Jessica’s strengths and new skills and the
recommendations we would make through the follow up report that would be sent
out. Talking of which, I really must get that report done (sorry, but I will
confess that report writing is not the most favourite part of my work!). Ho
hum.
Gail Deuce - Consultant teacher with Family, Education and Advisory
Service, Sense South East
* Vestibular - balance
Proprioception is your body’s ability to react
properly to external forces.
Due to lack of space
the parental viewpoint will appear in the next issue
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The Carers (Equal
Opportunities) Bill became an Act on Thursday 22 July 2004 marking yet another
historic chapter in the history of carers' rights.
Introduced by Dr
Hywel Francis, MP for Aberavon, the Private Member’s Bill has been named ‘Sam’s
Bill’ in memory of Dr Francis’ disabled son whom he and his wife Mair cared for
until he died at the age of 16. The vital intention of the Bill is to help the
carer as a whole person, rather than solely as a carer. It will improve the
lives of tens of thousands of carers - who care for someone who is ill, frail or
has a disability.
There is no date confirmed yet for implementation, but if it follows a similar timetable as previous carers' legislation it could come into force in April 2005. Draft Guidance is likely to be published in the autumn. The Bill will give carers more choice and opportunities to lead a more fulfilling life, by ensuring that carers receive information about their rights, on training and work opportunities and will give local authorities strong powers to enlist the help of housing, education and health in supporting carers.
It has three main
tenets:
1 New provisions
to inform carers that they may be entitled to an assessment. This is to ensure
that carers receive information about their rights in a more consistent way and
appropriate time.
2 A specific duty
that councils, when carrying out assessments, must consider the wishes of a
carer to work or undertake education, training or leisure activities. This will
enable them to participate in life beyond their caring duties.
3 Provision for consideration of carers in the planning process of services, through joint working and cross-authority co-operation between councils, local authorities and the NHS and a specific duty to consider assistance to individual carers to care and to continue to care.
For more information on
this and other Carers UK campaigns, you can visit www.carersonline.org.uk. To view the
bill you can visit
www.publications.parliament.uk/pa/cm200304/cmbills/072/2004072.pdf
Source: Carers UK
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PEN PORTRAITS
Nicholas was born on
28/9/92 at a hospital in Cardiff. We knew when I was pregnant there would be
problems with him because I had POLYHYDRAMNIOUS (too much fluid around baby)
Nothing could have prepared us for the road ahead.
Nicholas’ outlook was bleak, he had severe breathing problems, feeding problems and was constantly sick. He was admitted to hospital when he was 5 weeks old this was to be the first of many hospital stays for us. Numerous tests showed he had Choanal Atresia, colobomas in both eyes, low set ears, small genitalia and the inability to suck from a bottle. When Nicholas was 4months old he still only weighed 6lb, he was totally dependant on oxygen and was fed via a nasal tube.
During one of the
Doctors rounds I overheard the words THERE IS NO HOPE FOR THIS CHILD. I thought
my world had collapsed. Immediately I had Nicholas transferred to another
hospital after 2 months he was diagnosed with having CHARGE. The ball was now
rolling, I knew we would make it.
At 12 months he had a gastrostomy fitted and
a fundoplication at GOSH. From then Nicholas began to improve, he gained some
weight and seemed to be making progress. The secretions from his mouth and nose
came thick and fast the suction machine was a godsend. Nicholas was still in
hospital only coming home for a few hours and then returning for the night so
he could be monitored by the staff. I must point out that during all of this he
remained happy, never crying or sad.
We then found out that
Nicholas was deaf, to us this
seemed insignificant at the time, because he had been so ill we
were just grateful and thankful to god that he was still with us. But that was
not to be our last blow - Nicholas was struggling to breathe, he was constantly
tired and his Blue episodes became more frequent. Tests showed he was in heart
failure and the only thing to do now was for him to be ventilated to give his body some rest. I never thought that Nicholas would pull
through, he looked so frail and weak. This was to be the start of many
ventilations (6 in total). Had it not been for the support of another mother of
a child with CHARGE I think I would have fallen apart and for that I will
always be grateful.
Nicholas
was transferred by police escort form Wales to GOSH. I was told that we only
had a few hours left with him. When we arrived the ENT team were waiting for us
they took one look at Nicholas and decided to put in a tracheotomy. This saved
his life.
Of course
it was not plain sailing. There were a few hiccups but nothing compared to what
we had been through - to watch your child struggle for each
breathe and to hover in the doorway wondering if they are alive is torture, but
at least I could now see the light at the end of the tunnel. The tracheotomy
changed our lives for the better, naturally it has its down sides but that is a
small price to pay. I would just like to end this by saying that Nicholas did
make it! He will be 12 in a few months time and he is the most loving caring
mischievous child you could meet. I thank God for him every day, because these
children are gifts from God.
Sarah & Alan
Barlow, brothers John, Jason & Brian
Andrew Orrells Andrew has now just turned 18 and has another year left at our ‘special school’ where he has been since he was 7 years old. There have been many ups and downs over the years and many fights with the ‘professionals’. People seem to change jobs very quickly in Social Services, you just get through to one person and its all change next time. Andrew is profoundly deaf and wears hearing aids (although we and Andrew’s teacher are convinced that he can hear much of the time). He does Makaton signs (when he wants to) but is at the teenager stage and would rather let everyone else do things for him. He has limited sight in his right eye and none in his left, although this has never stopped him finding anything he wants especially if there is a bar of chocolate around anywhere. Andrew eats well and anyone coming to the house is led to the crisp cupboard in the hope that they will get him a packet of crisps. For about 8 months last year he would hardly eat and shut down completely having no interest in anything, not even swimming that he absolutely loves. It was a worrying time as his weight was going down and we couldn’t do anything. Again these last 8 weeks we have been through the same stage, lying there not making any sounds just pinching himself and we had to feed him just to get anything down. He has lost about 6lbs, which usually takes all year to put on. He has hardly been in school, is now very thin and can’t afford to lose any more weight Andrew is just fitting into 9 year old clothes now. We are still awaiting tests to see if there are any problems with his heart. Has anyone experienced this? This last week he has started back to school and seems to be getting back to his happy self. There is an ongoing problem that no ‘expert’ has been able to help us with – Andrew for the first 5 minutes of travel, whether by car/mini-bus whatever will throw himself around, get out of the seatbelt, blow raspberries, bite himself on his hands and kick around. After 5 minutes he is okay but if we have to stop and start we start the process all over again. Fingers crossed we haven’t had too many recently but it has been going on a long time. This will come and go but we have no idea when it is going to stop or start, has anyone any ideas on this? We are still investigating a residential school for Andrew for September 2005. This process was begun over a year ago but in the meantime the officer involved in our case moved on and another new face taken over so it was the same old story. This last week we have had a visit from Manchester School so hopefully Andrew will be able to go for an assessment this autumn. Andrew is a very loveable young lad and can twist anyone round his finger. We have just started fostering and I used to think that Andrew was hard work but not anymore! Caroline, Steve, Keri and Lee
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FUNDRAISING
Last call for anyone
interested in sponsoring Flo for this event - our details are in the contact
list below.
If anyone is looking to
raise funds for the CFSG Carol has sponsor forms available.
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As ever
please give me any comments – positive or negative - about the newsletter. I can only improve it if you give me
feedback.
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A continued plea –
if you have not given either Carol or I an email address when you have one
please do. Newsletters sent out by post go out at least a week often longer
after they are emailed because of the amount of printing
and stuffing of
envelopes etc (remember this is done in my own and Flo’s time). Many thanks to those who have recently
provided me with addresses.
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CHARGE Family Support
Group Website
http://www.widerworld.co.uk/charge
Hanna Levey (First
point of contact)
Telephone: 020 8552 6961
Email: Levey2000@aol.com
Carol Thomas
(Chair)
Telephone: 01484 646828
Email: cajthomas@btinternet.com
Barbara Payne
(Secretary)
Telephone: 0113 286 8350
Email: john.payne7@btinternet.com
Simon Howard and Flo
Njeru
Telephone: 020 8265 3604
Emails: si_howard@hotmail.com
or flonjeru@hotmail.com
(note if you are
not using a hyperlink for my email it is si_howard@hotmail.com – the underscore
cannot be seen on the link)
Any problems with my
email please use Flo’s
Yvonne Arnold
(Committee)
Telephone: 01708 764533
Email: eveian@btinternet.com
In
Scotland Elaine Murray- Bell is available as a point of contact.
Telephone: 01387 250284.
Her email address is: Jmurraybel@aol.com
The views expressed in
this newsletter are not necessarily those held by the CHARGE Family Support
Group.