​02895439254
info@ultrarare-disease.uk

Blog

News & Updates

12/09/16
I am writing this because I am a grandparent of a child with two rare
diseases we don't see our grandson as much as we would like due to the
miles between us, but we think about him every single day,we think about
the good times we had and what plays on my mind is what will ever happen to
him if he ever reaches adulthood I see a boy who has changed so much
because of his rare diseases I not only fear for his life I fear for his
adulthood.

By the way the United Kingdom is going he I think will not have a life due
to him being robbed of his life with his rare diseases we now fear for him
how will he ever manage in the new United Kingdom that is slowly
changing from a caring country into a country that can only sees the
bottom line and what is it going to cost we hear every single day about our
government coming up with ways it can cut people's benefits and they seem
to be striking out at our disabled community and that does not bode well
for our grandsons future.

His future is already bleak and our family has come through so much already
without the worry about what is going to happen our grandson when we are no
longer here our country is known all over the world for its caring and it
has fought in two world wars to protect people's rights people like our
grandchild people who could not cope on their own due to ill health or
disability .

We have come a long way for people's rights and showing the world just how
well we looked after people like our grandson sick and disabled as he is
,How our government has changed and how it has changed a once caring people
to people who only think of the bottom line what will it cost to keep a
person on a drug that will extend someone's life it could be a parent,
grandparent, child, someone you love so much is always the bottom line a
person someone is someone that is loved and will be missed someone who
can't fight back.

The government seems to want to walk on the other side of the street yet we
are taught in the bible that if you see someone who is sick or hurt you
should not look the other way you should help them.our country seems to be
not satisfied until it is stripping people of what they need to be able to
live a life that is independent and being able to cope and if they can't
cope they should give them a helping hand, They seem to want to turn it all
around and move what used to be a caring country to we must think of the
bottom line what will a drug cost what will it cost to keep a person alive,
what's the bottom line on the price of care for this child can we really
afford it.

The drip seems to go on and on slowly turning a caring country into a
country that only cares about the bottom line and this is hitting the sick
and disabled and the people who can't do anything about it children like
our grandson and to do this we are now starting to chip away at his human
rights but under the cloak of terrorism We have to protect our country of
course we do but we also have to protect the human rights of people who
can't protect their own human rights like the sick and disabled we can't
confuse the two.

The United Kingdom our great country who its people died in two world wars
and wars all over the world fighting for people's Human Rights only to be
getting investigated in the UN for Human Rights issues who have brought us
to this where have we lost our way why have we let this happen, We have an
old saying in Northern Ireland what goes round comes round
29/07/16
Now looking for volunteers to participate in SONICS, a clinical study for an investigational drug (COR‐003).

About the Study

The purpose of the study is to test the safety and efficacy of COR‐003 in the treatment of endogenous Cushing's syndrome. This study is open‐label, which means both the health providers and the participants in the study are aware of the drug or treatment being given. Information from this study will also help doctors learn more about COR‐003 in treating endogenous Cushing's syndrome. The safety and efficacy of COR‐003 for treatment of endogenous Cushing's syndrome have not been established.
If you would like to be considered for the study, please visit http://www.cushingssyndromestudy.com . MLR005 01/2016 V1
05/07/16
We have seen the United Kingdom voting for Brexit in vast numbers my heart sank as I thought about my grandson who has an Ultra Rare Disease and
a Rare Disease I know what he goes through every day in his life and the hospital appointments that he has to go through.

He is like other children who have ultra-rare disease and rare disease we in Northern Ireland are many years behind the rest of the United Kingdom in
Health ultra-rare disease and rare disease has not been on the Northern Ireland radar for many years it is long behind the rest of the United
Kingdom in research and in treatment.

The European Union helped patients with rare disease by setting up the European Plan for Rare Disease and all four countries with the United
Kingdom agreed to set up its plans in line with the European Union it was agreed that all European Nations would set up a system that would help
doctors to diagnose patients at an early stage it was also agreed that they would work closely together in Research, Networks, Centres of Expertise,
Medicines, National Plans and Strategies, Science from the Bench to the Bedside, Information, Help Lines, Patient Empowerment, Medical Education.(5
th European Conference on Rare Diseases Krakow May 2010)

When it was voted to come out of Europe alarm bells rang out what would the United Kingdom be like without the rest of Europe how would the markets do
and how would business cope not being in the European Union not one single voice did we hear for the patients in our health services who may depend on
the rest of the European Union for all that it was going to bring for the patients who are fighting life limiting diseases in the United Kingdom and
Northern Ireland not one Politian stood up for these patients.

We have children lying in our hospitals with Undiagnosed diseases that have waited many months and sometimes up to years waiting on the correct
diagnosis yes what will the United Kingdom be like for these children being out of the European Union, they could not vote nor had they anyone to speak
up for them. We call on the United Kingdom Government to put many parents minds at ease and make a statement on the European Plan for Rare Diseases
and tell the them how research will be effected outside the European Union We also ask the Northern Ireland Assembly to also put families at ease and
fight to have an open boarder with Southern Ireland as the NHS England said that Northern Ireland was in an ideal situation as it had a land border
with the European Union as it would help patient's having to travel to other parts of the United Kingdom to get treatment.
03/03/16
We went to Dublin to see how Ireland's Rare Disease Day 2016 went, we are very pleased we went it was a great day with lots of guest speakers like Rachel Martin, A 35-year-old woman from Limerick who was born with Loeys-Dietz Syndrome a genetic connective tissue disorder, and Dr John Devlin Deputy Chief Medical Officer with the Department of Health his areas of responsibility include Rare Disease, Chronic Diseases, Obesity and Nutrition he is also chair of the Rare Disease National Plan Oversight Committee.Followed by Pro Eileen Treacy the National Lead for Rare Disease Clinical Programme and is a member of the Department of Health Rare Disease National Plan Oversight Committee.Followed by Rita Marron who is an administrator in the National Rare Disease Office she has 20 year's experience in working in the healthcare sector Rita Marron was then followed by Dr Derick Mitchell the Chief Executive of IPPOSI Derick graduated with a BSc. In Biotechnology from NUI Galway and he also has completed a PhD., in Molecular Medicine from University Colledge Dublin. The meeting then went into Q&A-Chair Eibhlin Mulroe, CEO, ICORG

The Implementation of the National Rare Disease Plan
Break Followed By:

Session 2 Chair Avril Daly,Vice-President of Eurordis, was elected to the board of directors in 2009 and has been Vice-President since 2012.She is also responsible for promoting the voice of patients with retinal disease at a global level.Avril was followed by Richard Corbridge Chief Information Officer, HSH Richard, previously from the NIHR Clinical Research Network and has a wealth of experience in the Health and Clinical Research Sector leading various informatics delivery elements and information security projects.Richard Corbridge was followed by Kevin Mitchell he is an Associate Professor in the Smurfit Institute of Genetics in Trinity College Dublin and a member of the Trinty College Insititute of NeuroScience he is also a graduate of the Genetics Department Trinity College Dublin (BA.,Mod.1991)He is active on twitter(@Wiringthebrain) He was followed by Eilish Hardiman who is the group CEO of the Children's Hospital Group, The Hospital Group consists of Our Lady's Childrens Hospital, Crumlin, Temple Street Children's University and paediatric services at Tallaght Hospital Eilish has over 23 years acute academic hospital experience,several at senior corporate management level,including CEO of Tallaght Hospital,both Deputy CEO and Director of Nursing at St James Hospital. Eilish was followed by Denis Costello who joined EURORDIS in 2008 as Web Content Manager, later becoming Web Communications Senior Manager & RareConnect Leader.Denis is responsible for the technical aspects of all EURORDIS websites and monthly electronic newsletter. Since joining EURORDIS, he has over seen the expansion of the online presence to incorporate an international online awareness campaign for rare disease day Denis holds a degree in music and French from the National University of Ireland Maynooth, as well as a further degree in Multimedia Technologies from Trinity College Dublin. Denis was followed by Dr Liam Farrell he is a former family doctor who practiced in Crossmaglen for many years he is also an experienced broadcaster and multi-award winning writer and was a columnist for the British Medical Journal for 20 years, He is the curator of the Irish Med tweet chat, a weekly live twitter-driven event on all things relating to medicine which has grown into a vibrant global community of health care professionals, patients, carers and public, sharing ideas and support.Liam Farrell was followed by Philip Watt CEO of Cystic Fibrosis Ireland since 2009 he is also chairperson of the Medical Research Charities Group (MRCG)the Rare Disease Task Force and the Irish Donor Network (IDN)he is a graduate of Trinity College Dublin (BA) and postgraduate of the University of Ulster (M.Sc)he is also author of a wide range of books and articles most recently on the 50 years of Cystic Fibrosis Ireland.

We found that Dublin's Rare Disease Day 2016 was very well attended we met people who we knew many years ago when we had The Cavan Tommy Hoey Trust. Denis Costello was one of those people I met I have known him from the days I had built our very first site for our grandson Cavan when I walked up to him and spoke to him he remembered them days I always wanted to meet him and there you are I finally met him.

The speech that I felt stood out was Avril Daly I felt she was a really good and it came from the heart I felt it was well presented and she also got her point across I felt she would have made an ideal replacement for Eibhlin Mulroe MBA Chief Executive of ICORG if she ever left her position as of the chairperson for Rare Disease Day Dublin

Terence Hoey CEO

The Ultra Rare Disease Disorders & Disabilities Foundation

Northern Ireland Charity Number NICI 102130 UK HMRC Number NI 00089
29/01/16
As everyone gets ready to pack up work for another week and are making plans to go out for a drink, shopping, or even going away somewhere nice for a few days its life and we all want to enjoy it, coming from Northern Ireland as I do the Northern Irish like to play hard and get down for a few pints, life in most places in the world is great and we are here to enjoy it let other people do the worrying, I am out for a good time and I have earned my money and I am going to enjoy it, I have heard this so many times, in fact, some people enjoy it so much they carry on the whole weekend, Friday through to Sunday,

Northern Ireland is like any other major city, the only time you see inside a hospital is when you need to, or someone close to you is ill. I don't like hospitals or doctors so I try and stay away from them as much as I can but that's hard when you have had kidney failure as I have had, I have seen so many people who are very sick many times, I feel how lucky I have been you seem to get brought back down to earth when you take ill yourself, it gives you time to think and to settle down you will either say to hell with it I going to enjoy myself or try and make changes to other people's lives,It took my little grandson to do that for me I talk all the time about my grandson but seem to forget I have a granddaughter someone who also needs to be told just how great she is and how much we would miss her if she was not in our lives.

You tend to forget the other child when you have a grandson who has a Ultra-Rare Disease I have found that out when my grand daughter phoned me from University and told me she felt as if she was invisible, why had I not seen just how much she also needed us, that is the problem when your little grandson who you love so much is so unwell you can't see that other people are hurting also, and who need you to help them, Maeve our granddaughter has been so strong through Cavan's Illness she has always been there for him in fact without her Cavan may not have done so well.It gets me back to my heading what have I done to improve lives of families who have a child with an Ultra-Rare Disease, I blog every single day to raise awareness of just what families have to go through I try and raise Ultra-Rare Disease at every single event we go to,But still you feel as if you are not doing enough.

My wife Maureen is also taking up the mantle of Ultra-Rare Diseases, in fact, she is becoming better than me in explaining to people just what its like to have a grandchild with Ultra-Rare Diseases, it takes you to stand back and see if there is anything you can do to make things better I think Maureen is much better than me at explaining as I become very emotional and that's not good, Planning Blogging, Media, is my forte, it is good that you can look at things that way but it takes a lot of mistakes before you can find your role.As a Charity, we have made lots of people sit up and think about ultra-rare disease and rare disease we have made major inroads into making people talk about ultra-rare diseases and rare diseases we have now got web pages up all over the internet talking about diseases and about what they would like done about it.

We feel we have made these changes, ultra-rare disease and rare diseases are there and the genie is out of the bottle, we are very pleased we have been part of that process as it can only be good for the children out there who have been in hospital wards in the UK and in the world fighting ultra-rare diseases and rare diseases without out any major conversation taking place but we feel we have changed all that.I feel we need to set our sights on how the drug companies manufacture their drugs, as they play a vital role in the supply of drugs to help our children with ultra rare disease, and rare diseases. In the clothing companies, they found that their goods had inflated prices they had to do something about it or lose orders they had to change their whole manufacturing process to suit people's needs and to suit changing markets.

The buzz words in clothing manufacturing companies were ''short runs'' making for people who did not like wearing what everyone else was wearing and making it pay.Drug companies must look at how they manufacture their drugs for a changing market, they have to look at the whole process and also look to ''short runs'' they also need to set up processes that they can manufacture drugs for people who are unique, these people are usually very young children who have never had a life like the rest of us going out for weekends, playing football, and shopping, doing what we all hold dear to us.Like all manufacturing processes, they need to change to suit the markets it may cost them to make changes maybe its time this happened to suit the needs of all citizens.

I look at where we are now we have learnt more about ultra-rare diseases and rare diseases we do know we have made major changes for people and their families who are going through what our family is, we know if a child is diagnosed with an ultra-rare disease or a rare disease they will be able to find information on the web about what other families are doing in their position, I am glad to say we helped to make this happen Ultra-Rare Diseases and Rare Diseases are the buzz words on the world wide web people are talking about it and that's great our work is not over it has just begun.

Our Work Begins

Terence Hoey CEO

The Ultra Rare Disease Disorders & Disabilities Foundation