Rare Disease Day Belfast 2012

Rare Disease Day Belfast 2012

www.the-cavan-tommy-hoey-trust.org.uk

the-cavan-tommy-hoey-trust.org.uk - Our Patron Naomi Long

the-cavan-tommy-hoey-trust.org.uk - Our Patron Naomi Long

RARE DISEASE DAY -- FEBRUARY 28, 2011 - The Petition Site

RARE DISEASE DAY -- FEBRUARY 28, 2011 - The Petition Site

My phobia of doctors almost cost me my life - News, East Belfast - Belfasttelegraph.co.uk

My phobia of doctors almost cost me my life - News, East Belfast - Belfasttelegraph.co.uk

My phobia of doctors almost cost me my life - News, East Belfast - Belfasttelegraph.co.uk

My phobia of doctors almost cost me my life - News, East Belfast - Belfasttelegraph.co.uk

Belfast Rare Disease Day Who Is It For And Why Is It So Important For Northern Ireland - Children's Hospital Los Angeles - Zimbio

Belfast Rare Disease Day Who Is It For And Why Is It So Important For Northern Ireland - Children's Hospital Los Angeles - Zimbio

Belfast Rare Disease Day Who Is It For And Why Is It So Important For Northern Ireland

Northern Ireland has for so long been trailing long behind other european countries in health and mental health services we have the rest of the UK expand its hospital funding in both health services and mental health care we have seen the uk moving on also in its building programes across the UK in the mean time we have seen little or no investment in the health services in Northern Ireland and little to none in the Mental Health Services because of this Northern Ireland is already behind in investment in services for both Mental Health and Health Services.We have seen for years how Budgets in Northern Ireland have mainly been used for policing and security leaving the Health Services and Mental Health Services trailing way behind the rest of the united kindom in many aspects of health care,while Northern Ireland depended on many community groups to fill the shortfalls. Northern Ireland is now coming out of a violent past that in its self is adding more pressure on to the Health Service and the Mental Health Services the issue of Health Services and Mental Health Services is now bending under the strain of a nation that has seen many horrors and lived under so much strain it is now paying the price of under funding at a time when the rest of the UK are 36 years ahead of Northern Ireland in many areas. Northern Ireland is being put under pressure to cut budgets to services like Health and Mental Health, we hear on a daily basis how mistakes are taking place in a Health Service that is bending under the strain of under funding, we hear of our young people not coping with the strain of life in a country that is trying to show the rest of the world that we have acheived the prize of peace but they do not see the total lack of care for funding in our Health and Mental Health Services, we read on a weekly basis of the mounting toll of our young people committing suicide, yet we think nothing of spending milions of pounds on security.Once more we look to the community to fill the shortfall of an ever growing problem of under funding of Mental Health Services. Northern Ireland is a very provincial country, the people within Northern Ireland are very proud of that, they see services being cut at a time when ever the health Services are bending due to lack of investment in the past, our polititans are now having to carry out cuts that will effect many peoples lives.When our politicians are blaming each other on the problem and making their arguments under the old party politics,  they cannot seem to grasp the obivous, our Health Service is already behind the rest of the UK and europe and has been for over thirty years they should be uniting to have our health service brought up to the standards of the rest of the UK and europe.We must question our local politicians if we cannot fight for our Health and Mental Health Services what is going to happen to our young children who are lying for weeks in our hospitals waiting on a clear diagnosis of rare diseases is our young children going to have to pay the price of this under funding are they the group that are so far down the list in treatment, that they will pay the cost, its not the case anymore where our young children can just be swept under the mat, RARE DISEASES are not so rare children are dying from Rare Diseases, children are already paying the price of under funding, research for rare diseases are already long down the list in drug research children have to pay this price we see them lying for weeks without proper treatment and sometimes in great pain without even the hope they will be cured of somthing that no one has heard of,.Rare Diseases are here in Northern Ireland but we are not on a level playing field,our children do not have the same chances as the rest of the UK or europe, yet our politicians remain silent,  this is because its an issue they feel is not a vote winner like the politics of the past green and orange, do they live in a bubble that Health Services, Mental Health and Rare Diseases is just not on the radar, are they ever going to stand up for the weakest in our society and demand from the UK Goverment more funding for our Health Services , they know how to make demands, they are expert at it they can take teams over to 10 Downing Street to demand millions for security so why do we not see the same vigour for the weakest in our communiy, we have seen for too long the sickening smiles of some politicians blaming others for the mess in our Health Services while we watch children with rare diseases paying the price and sometimes the ulitamate price.Health Services are everyones right even though most only see it when a friend ,a child, a mother, a father, aunts or uncles need it, we should not become smug about Health, life can change in a second and we should never forget no matter who or what job you do or how much money you have.Take time and stand back for a moment and think to yourself of the people who are in our hospitals people who mean someting to someone else,someone who is loved, our doctors and hospitals give them the best chance at life,  think about the young parents of a young child to be told it not well and is not responding to treatment you trust the doctors to help, only to be told after weeks of no sleep missed meals that your little child has a rare disease  that medical research have no cure for, and your child on the journey of RARE DISEASE, no one can help you are walking in the shoes that many others have walked in the journey that medical experts cannot tell you how it will end you are in the nightmare of RARE DISEASE, and all what comes with it the guilt that you have given your child this nightmare you life as you once knew it is over times when you thought nothing of going for coffee or your weekly shopping life as you knew has chaged in the blink of a eye your life now means long stays in hospitals travelling miles to appoimtments in other hospitals in the process that many other children have had to make before you in the hope that someone will wake you up and tell you its all over we have a cure. Rare Disease takes away your life and replaces it with a daily battle of caring for a child that no one can cure but you will try everything go anywhere  do anything just to find a cure.You have to walk in the parents and the families shoes to know what this nightmare is like, yet so many politicians and our media seem to forget the families only to keen to call for cuts in our health Budgets and cuts in support services that families with rare disease need and depend on, we ask you as a politician.media agent.young up and coming professional, to step back and think about the people who elected you and trust you to fight for their rights and for health care.we ask the media to report on the sick and the children who are fighting for life itself and that children are also involved some with diseases that man has not even found a curefor.The young professionals whose life has never been so good that life can change in a blink of a eye and that we havenot found a person yet who is immortal. Rare Disease and our Health  and Mental Services are there for everyone both rich and poor it is a gift that goverments have looked after  for years , you the politians must think of the communities who you have elected you, not to break the trust that your community has placed in you and has made sure you were elected STAND UP FOR PEOPLE WHO SOMETIMES NEED YOUR HELP SUPPORT RESEARCH AND FUNDING FOR RARE DISEASES AND SUPPORT OUR HEALTH AND MENTAL HEALTH SERVICES IN NORTHERN IRELAND SHOW YOU CARE ABOUT THE COMMUNITY WHO ELECTED YOU

The next chapter in the story of Cade Anthony Belsome » Lifestyles » The Picayune Item

The next chapter in the story of Cade Anthony Belsome » Lifestyles » The Picayune Item

Wake Up To Rare Disease It Could Happen In Your Family Support RaredIseases Day Ireland

Wake Up To Rare Disease It Could Happen In Your Family Support RaredIseases Day Ireland

Posted by Terry Hoey at 1:21pm

This is a call to action for every single person who cares about children with rare diseases, it is also a call for people who have a disability and feel that they are not being heard, Raredisease Day is a platform for patients, families and carers to come together to talk and listen to other peoples experiences in the fight against Rarediseases and Disabiltys caused by Rarediseases.It is also a Call for action to the Northern Ireland Assembly that we are people and we are out here, we count in society and not people to forget about. We need help and support in many ways to take part in a meaningful life we want and expect to be included in all walks of life from employment, sport,and health care,due to cut backs being introduced in Northern Ireland we will see less health care for people who really need it we will see cutbacks in the living standards of ablebodied people and we will see even more cut backs being made to groups that already are finding it hard to cope like Families travelling to and from hospital who need treatment, families with children who have rare diseases and have to travel hundreds of miles for treatment without any help, we must show support for raredisease day Ireland and to forge links with people all over Northern Ireland,to stand up for the the patients,families and carers who cannot fight this on their own. We call on you for action you can help us make this change by people power,we must move ministers to change direction and support the health service instead of trying to bring it down .Northern Ireland is already 40years behind the United Kindom in health care and hospital building plans,we are also behind in treatment and patient care we need to act and act now to stop this chipping away at our health service, instead of reducing funding we should be increaseing funding to help us diagnose some of the rare diseases that are effecting our children daily,our doctors are failing to make early diagnoses due to lack of funding. RAREDISEASE DAY 28th FEBRUARY 2011 AT St MARKS CHURCH HEYN HALL Need every single person there who cares about Rare Diseases, Disibilty, And Funding For The Health Service This Is A Call To Action From Raredisease Ireland.

Spread the word. Every invitation counts:

The Beginning of Cavan's Nightmare of Rare Disease Our Little Grandson

In October 2008 my family was rocked by rare disease – not one but two rare diseases. Until this time we had hardly been inside a hospital, but little did we know how much our lives were about to change. We, that is my husband, daughter, son and I could never have imagined that we were about to embark on a nearly 12 month journey which saw us stay in Bristol, away from our home, family and friends and we could never of imagined the things that we were about to experience and I can assure you that I would never wish any of those experiences on anyone, anywhere.


It started when my son, Cavan, became ill with what was thought to be a common virus. However, he did not seem to be able to fight this virus and soon we were admitted to our local hospital where he was diagnosed with Glandular Fever. Cavan showed little signs of improvement but our local hospital were unable to give a firm diagnosis. His bloods were taken on a daily basis and then started to be sent to both GOSH and Bristol Royal Children's Hospital. After a few weeks as an inpatient he was transferred to Bristol RCH where we were informed that Cavan had a rare disorder EBV HLH (which is the Epstein Barr Virus that in turn triggered Hemophagocyctic Lymphohistiocytosis). Like the majority of you here today I and the rest of the family had never heard of this disorder.
In layman's terms this meant that instead of Cavan's blood fighting off infections and protecting him it actually turned on him and caused damage to his liver, kidneys and more importantly his brain. He suffered two major seizures in quick succession and was admitted to ICU. At this stage we were informed that Cavan had only 48 hours to pull through and that it was not looking very positive. Inevitably we had to inform our families that our son was probably not going to survive and they all rallied around to say their goodbyes. Our families from Northern Ireland and Cornwall travelled to be at his side. But he did pull through but only to be dealt a second blow.


Our Consultant in Bristol had the task of informing us that Cavan had been diagnosed with yet another rare disorder XLP (x-linked Lymph proliferative Disorder or Duncan's Syndrome). To date it is currently known that XLP affects approximately 100 families worldwide. It affects the boys and is passed or carried by the female through one of the x chromosomes. It is a relatively newly discovered condition, in 1998, so obviously there is still so much to be learnt about this condition.
XLP can take many symptoms including severe Glandular Fever, lymphoma (cancer of the blood) and the inability to fight infection (breakdown of the immune system) and sometimes anaemia. 70% of the affected individuals with XLP do not get to see their 10th birthday unless they are treated. Currently the best prevention is regular top-ups of anti-viral medicines, immunoglobulin therapy or steroids. However, all these are not cures. Currently the only possible cure is a bone marrow transplant which in effect replaces the faulty immune system.


At one stage Cavan became so ill that at the age of 6 he weighed just 30lbs and had severe muscle wastage which left him immobile and returning to infancy, for example wearing nappies and being fed intravenously. But despite all this Cavan is a fighter and he battled through and tackled every hurdle he faced. He pulled through, and on Good Friday last year, he had his bone marrow transplant. He has been through chemotherapy, conditioning therapy, rigorous physiotherapy, had a wheelchair and disability buggy, a Childs Zimmer frame, casts on both legs – as I say my very own Forest Gump!
We are so far the lucky ones. You never know when a rare disease may affect you or the ones you love. We as a family have faced not one but two rare diseases. We went from a regular/average family to a family lost in a world of blood counts, medicines and terminology. We now, even my daughter at the age of 13, know more about the hospital environment than we care to mention but we are survivors.

We have made friends with families that would never have crossed our path and unfortunately not all of our friends have made it but we are better people for having met them and shared experiences with them – we will never forget them.
We, that is all my family and The Cavan Tommy Hoey Trust (Ireland) would like to thank everyone for their support, generosity and kindness that they have shown over the last year, in asking after Cavan’s health and donating to his fund. We also thank Belfast City Council, George Best Belfast City Hospital and Belfast International Airport for their kindness in raising funds and giving Cavan special days to remember for the rest of his life.
The Trust will work to help other children and their families who are fighting rare diseases, we hope to work closely with Dr. Fiona Stewart from Belfast City Hospital to find a way the Trust can help. We will also never forget Bristol RCH and Cavan's team of Dr’s lead by Consultant Colin Steward, who we owe so much to for Cavans progress.


We thank CLIC Sargent who for nearly twelve months provided us with a home from home, social worker, outreach nurses and various other assistance in our time of need and they continue to help us today. We would like to work with CLICsargent to help find a way the Trust can help with their fight to give parents and their children a place to call home while their loved ones undertake treatment in hospital.
The Trust will continue to work to help Cavan and other children suffering from rare diseases and we will become the voiced of rare diseases on behalf of the children who cannot fight for themselves. We ask you as representatives of government to help us make rare diseases a priority. In closing now I would just like to say that it is imperative that we support rare disease organisations and charities and help raise awareness in order that other families may not have to go through the traumas that we have and hopefully potential cures can be found for these conditions.

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Paula Mattis is a real super hero she fights SUPERIOR MESENTERIC ARTERY (SMA) SYNDROME

With only about 500 reported cases in the history of English-language medical literature, recognition of SMA syndrome as a distinct clinical entity is controversial, with some in the medical community doubting its existence entirely. SMA syndrome is also known as Wilkie's syndrome, cast syndrome, mesenteric root syndrome, chronic duodenal ileus and intermittent arterio-mesenteric occlusion. It is distinct from Nutcracker syndrome, which is the entrapment of the left renal vein between the AA and the SMA.

SMA syndrome is estimated to have a mortality rate of 1 in 3. Delay in the diagnosis of SMA syndrome can result in fatal catabolysis (advanced malnutrition), dehydration, oliguria, electrolyte abnormalities, hypokalemia, acute gastric rupture or intestinal perforation (from prolonged mesenteric ischemia), gastrectasia, spontaneous upper gastrointestinal bleeding, hypovolemic shock, aspiration pneumonia, or sudden cardiovascular collapse from increased velocity of bloodflow in the SMA due to the reduced mesenteric angle.

 

My journey started long time ago when i was not Diagnosis it took 3-4 more years for me have a diagnosis and they Sadie I did not have it even with the test saying I did so then I went and got a 2ND opinion at John Hopkins with a new gastric Dr is name is Dr. Gerard E. Mullin (gastroenterologist) I had a pick line in before I seen Dr. Gerard E. Mullin gastroenterologist then from there Lot's of test then he referred me to Dr. Michael R. Marohn, (laparoscopic gastrointestinal surgeon) after June We where going to have my surgery done for august 13Th before that date came I was back in the hospital at john hopkin with SMA SYNDROME and pancreatitis for 2 weeks but it was OK I got to have the surgery for august 13th before I went for surgery I had a feeding tub put in they took that out when he did the surgery for the SMA SYNDROME and also took out my appendix, my gallbladder and also took an biopsy of my livery wich was OK. I will be seeing Dr. Michael R. Marohn and another Dr on Wednesday 29Th. More things have been going. Paula Mattis
My journey started long time ago when i was not Diagnosis it took 3-4 more years for me have a diagnosis and they Sadie I did not have it even with the test saying I did so then I went and got a 2ND opinion at John Hopkins with a new gastric Dr is name is Dr. Gerard E. Mullin (gastroenterologist) I had a pick line in before I seen Dr. Gerard E. Mullin gastroenterologist then from there Lot's of test then he referred me to Dr. Michael R. Marohn, (laparoscopic gastrointestinal surgeon) after June We where going to have my surgery done for august 13Th 2010 before that date came I was back in the hospital at john Hopkins with SMA SYNDROME and pancreatitis for 2 weeks but it was OK I got to have the surgery for august 13Th before I went for surgery I had a feeding tub put in they took that out when he did the surgery for the SMA SYNDROME and also took out my appendix, my gallbladder and also took an biopsy of my livery wich was OK. I will be seeing Dr. Michael R. Marohn and another Dr on Wednesday October 29Th 2010. I seeing the Dr had blood work done and then I went to get a MRCP test done because they think now I'm have something going on with my pancreas. I go back to see the Dr on November 3rd 2010 to see about the blood work and the MRCP test I had on October 13Th 2010.
I'm in pain, vomiting, diarrhea all the same things I had befor my smas surgery and on TPN for month and 3 weeks with no weight gain, I cant go to my Dr's Intel I have insurance there are so many test to be done this has all been on hold for 2 months now. I had very good insurance from my job but dont have that any mor...e. The GI sade I cant go back to my job ever that in my condesion I cant do my job ever. My GI sined my disabilty retirement and I got an low estmated of retirement benefit of 88.00 a month only but wating for the state to give me amont then I will be in retirement. So sad I loved my job with spacel ED kid's those I worked with.
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January 8 at 11:42pm Need to see my GI sometime tomorrow because johns Hopkins called him and Sade that the TPN is not working I'm not gaining any wight and my symptoms have not improving. I have to get a high amount of bills Intel I can have insurances johns Hopkins Sade to the GI. So I'm waiting for the GI sucutery to call me back to see... if I see the GI tomorrow are not but Johns Hopkins Sade to the GI that he need to late them know if I need not to be on TPN any more are not, if thees test need to be done asap are go into hospital.
Also need a ride up to the GI.
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January 19 at 4:42pm My GI appointment was something else. I go to johns Hopkins for an Upper GI and small bowel on Monday the 31st then see my Dr on Tuesday Feb 1st and go to umc to get MRCP with secretin enhanced. I also have to see surgical consult at umc.
I have a narrowing from the surgery so they may have to go back in also have things going on with pancreas. My Dr Sade today I my not be well for the rest of my life because of both things going on I may be on TPN long term.

Samantha Mina Much love to you too, Paula! Thank you for always being positive despite all you are going through. I am sorry you are experiencing ongoing problems from your surgery.

Everyone: It is important to note that many of the patients who do not fe...el relief post-op are struggling with significant issues other than their SMAS that contributed to the condition's development in the first place. It is necessary to identify if a co-morbid condition, root cause, or even a consequence/complication of SMAS is present and address that issue as well, because intestinal bypass surgery will only treat the SMAS and nothing else.

Everyone, let us keep Paula in our prayers as she battles ongoing post-op problems. She will have a surgical consult soon, to discuss the possibly narrowing of her anastomosis. She also has to see a cardiologist. She had an Upper GI on 1/31, she saw her doctor yesterday. She is going to UMC to get MRCP (enhanced with secretin) her ongoing pancreatic issues on Thursday at 3:15pm.

***Visit our sister group, by Samantha Mina: http://www.facebook.com/group.php?gid=170641319067&ref=ts

Clegg pledges £400m for mental health services - Yahoo! UK & Ireland News - Yahoo! Buzz UK & Ireland

Clegg pledges £400m for mental health services - Yahoo! UK & Ireland News - Yahoo! Buzz UK & Ireland
Health Minister Will You Ask For Some Of This Money For Northern Ireland and If Not Why Not. We Need Some Of These Funs For Northern Ireland and We Need Them Quick To Help Stop The Deaths Of Are Young People Taking Their Lives

Rare Disease Day Belfast 28 Feb 2011

Venue Heyns Hall ,St Marks Church Holywood Road

11-00am to 2-00-pm

We are very pleased to say that Rare Disease Day Has found a venue at Heyns Hall St Marks Church Holywood Road East Belfast, we are pleased to say that to enable them to make contact with everyone with rare diseases and disabilty there is ample parking and wheel chair access, this event is a patient and family event for everyone with rare diseases and children and adults fighting cancer and disabilty.

This event is for a time to remember and to meet people with disabilty both seen and not seen, the sponsor for this event is The Cavan Tommy Hoey Trust named after a little boy who is fighting two rare diseases himself, his diseases are XLP and EBVHLH. The Trust has set this day in its calander to hold this event to coincide with the World Rare Diseases Day that takes place every single year in Europe, USA and other countries world wide.The Trust has recognized the need for patients, family members and carers to come together once a year to disscuss and  talk about how they are coping and the comfort of knowing you are not alone living with a rare disease and a disabilty, we know just what is entailed in living with and looking after someone with a rare disease and with learning disabiltys.We hope to have various groups and speakers at this event but we have it timed that you will be able to talk and to meet with other groups and with other people that are attending, and know what you are going through. We invite our local MLAs, Councillors, Doctors, and Health Services to this event to enable them to meet and to listen to your side of living with and coping with a rare disease and disabilty. Rare Disease Day is your day, take ownership of it let it help to give you a voice that can be reckoned with  the need for change in the thinking of Rare Diseases and Disabilty is not and the need is just The Cavan Tommy Hoey Trust wants inclusion for all and to stamp out exclusion  

Regards

Catherine

....................................................................................

Catherine Flannigan

Information and Development Officer

..............................................................................

Contact a Family- NI Office

50 Railway Street

Lisburn

BT28 1XP

02892627552

catherine.flannigan@cafamily.org.uk

www.cafamily.org.uk/nireland

National Helpline 0808 808 3555

Helpline 0808 808 3555 (UK only) Open 9.30 am - 5pm Monday to Friday Textphone 0808 808 3556 Email: helpline@cafamily.org.uk

Textphone 0808 808 3556

Little Jamie Close a real little fighter and a real super hero in his fight with Cornelia de Lange syndrome

• Jamie is a little boy we have known since he was born, we have known his mum Carla most of her life, Jamie's grandparents George and Anna Maria are our very best friends,the one thing we have in common is we have a grandchildwho suffers with a rare disease, you would think this impossible but rare diseases can come to anyones door and the effects on the whole family circle is a living nightmare. From the minute you are told that your little boy or little girl has rare disease the lives of the whole family circle as a unit changes, rare diseases are not like other diseases where you know the outcome good or bad but in the case of rare disease you do not know what the outcome will be,.doctors who you look to for answers sometimes cannot give the answers you need to enable you to have a little hope and some understanding ,in the case of little Jamie he had to wait for many weeks before the doctors could tell what was going on with him, his mum spent every minute at his bedside and his grandparents took over when Carla needed a rest. We seen just how our friends lives had to change and how tired they all looked, rare disease was making its footprint, families with Rare Disease they learn very quickly that the life they once had has now gone. 

[Cornelia de Lange syndrome (CDLS), also known as Bachmann-de Lange syndrome, is a genetic disorder present from birth. In most individuals, CDLS is not associated with any family history of the disorder, but for others, siblings and/or parents may also have the syndrome. Researchers have identified a gene on chromosome 5 associated with CDLS. Symptoms
Many of the symptoms of Cornelia de Lange syndrome are present at birth. These include some or all of the syndrome's distinctive facial features:

• confluent eyebrows that appear arched and well-defined (99% of cases)
• long curly eyelashes (99%)
• low front and back hairlines (92%)
• turned-up nose (88%)
• down-turned angles of the mouth and thin lips (94%)
• small lower jaw and/or protruding upper jaw (84%).

Other physical abnormalities which may be present at birth or detected as the child grows may include:

• very small head (microcephaly) (98% of cases)
• eye and vision problems (50%)
• excessive body hair, which may thin as the child grows (78%)
• short neck (66%)
• hand abnormalities, such as missing fingers, very small hands, and/or inward deviation of the pinky fingers
• heart defects.

Infants with Cornelia de Lange syndrome are generally born small, sometimes prematurely. The infant has very tense muscles, has trouble feeding, and may have a low-pitched weak cry. Language and behavior problems
Infants with CDLS do not develop as quickly as other children. Most have mild to moderate mental retardation, but some may be profoundly retarded (IQ range 30-85). Because of problems with the mouth, [hearing impairment, and developmental delay, children with CDLS often have speech delay.
Behavior problems for children with CDLS may include hyperactivity, self-injury, aggression, and sleep disturbance. These children may appear to have autism due to a diminshed ability to relate to other people, repetitive behavior, difficulty with facial expression of emotion, and language delay.
Treatment
Treatment focuses on helping each child achieve his or her potential in terms of development and language, and medical care for physical problems. Infants benefit from early intervention programs for improving muscle tone, managing feeding problems, and developing fine motor ability. Life expectancy is normal if the child was born without major internal physical malformations such as heart defects. ]
Information for this article was taken from:
Tekin, M. (2002). Cornelia de Lange syndrome. eMedicine, accessed at http://www.emedicine.com/ped/topic482.htm

Everyone Loves Little Angles

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Rare Disease Why Should You Care

I have been told I am always banging on about something, a pain in the ass, always shouting about something,In life you have choices you can go along as you do every single day and do not try to change anything as long as things are OK for you, why should you care about anyone else,and why should you care about anyone else after all life is hard enough and things are fine for me and I do not ask anyone to help me so why should I help anyone else who I do not even know or really care about,you can go on for hours giving reasons why you should not do anything.On doing my work to raise awareness of rare diseases I have heard them all people seem to live in their own little bubble of life things are OK for me thank you very much I have no time to care about anyone else let alone think about rare diseases, or children lying  in hospital for weeks with something that noone has heard of as long as I am OK I have nothing to worry about.I suppose you are right life is just hard enough and worry about someone else would just get in the way,I am one of the people who seems to care about how life is for other people and if its children it seem to make me worry more about them,you may think this is madness and you cannot change anything or no matter how much I try and do something nothing will make a difference.Life and government and the media have changed our lives forever some think for the good but others think for the worst, from early morning to late at night you are being programmed by the powers to be in how we should think or care about how we run our lives we have let TV and the Media into our homes without a thought of how they are changing how we think about each other as human beings and how we care about people who cannot help themselves,we have changed about how we view our lives and our communities where we live.The time not to worry about anyone else seems to be the norm you must ask yourself why has life changed so much why have we no time to care about anyone why do we not have time to think about people who cannot help themselves, we hear day and daily about people who are abusing the health service and abusing the benefits system and why we should not fund cures for cancers or hospital treatment, we are told day and daily about the benefit cheats people who are abusing our system  drip feeding us day and daily about the people who are cheating the country out of millions this is all great stuff its news worthy, its what they want us to worry about,its how they want you to think its PC to ring the Government dob them in lines to tell on people with in your communities about who is ripping the system of this is all great media But is it ?  ask my self why is there not the same time spent on trying to inform people about Children and families that are trying to cope with illness that man has not even found a cure for,why are we not told about how many children are hurting with illness that have not being diagnosed for weeks ,we are being programed not to think about this by the daily drip feed about how much it is costing us,Its not PC not to think what it cost to fund someone to live a little longer with their family we are told its not worth spending the money on someone who may very well not be here with in six months we seem to have become hardened to caring for people who just cant cope by themselves the need for research for rare diseases is so great and the need for funding for research is just so vital to bring about cures for rare diseases we cannot sit back and think rare disease will not happen to me if we thought in this way we would never have found cures for some cancers that were out there.Rare Disease effects Children and is usually passed on by the parents due to genes.Rare Diseases need funding from our governments and a research policy set up to help with the growing problem of rare disease and the effects it has on the children who suffer with rare disease,  and for the families and carers who look after the children diagnosed with a rare disease, the thinking must change in regard to policy and a soften up to the policy that cuts to funding for rare diseases must be relaxed until patient and family groups can try to raise funds in the same way as other major charities, like Action Cancer, Cancer Research. Rare disease patient groups are few and far between information and media coverage is none existant and leave patients vulnerable in finding expert advice and having to travel sometimes hundreds of mile for monthly visits to see their consultants, rare disease is rare but as patients families are well aware that more and more young children are showing up at hospitals presenting with symptoms of common illness only to find after weeks of investigations and blood tests, doctors diagnosis a rare disease this time that the investigations are carried out means the patient is not getting the correct treatment and sometimes no treatments exist at all, this means the doctors have to try other drugs that are usually used to treat cancer or other drugs until they find a profile that works on the patient, if this was happening in the wider population it would not be long before an outcry as to why its happening in this day and age.Rare Disease not only effects the patients, it effects the whole family circle as rare diseases are usually passed down by the mother or the father, or both. The pressure that is put on the families is immense, sometimes it causes family breakdown, Rare disease is not like any other disease,  a patient and the family have no idea of the outcome, for their loved one it usually is a life of fear that every little thing will cause infection or the patient cannot take part in normal activities they have to be watched permanently for any change or raised temperature that would show signs of a infection or seizure, that could possibility end the life of the patient,the family goes through this every single day and every single night sometimes not sleeping for days because the patient has to be constantley watched. Once more if this was happening in the general population there would be a outcry yet the families of a person with rare disease have to  go through the nightmare of rare diseases we are only a small group who are trying to make the difference for the patients and their families, we do not have the funds that other major charities have, we find it difficult to get people to listen to the plight of families that are going through the nightmare of rare disease day and daily,  if you are reading this you are reading about patients and families who have no means to raise the profile of their plight due to the lack of funding and patients are going thought this nightmare without real government funding. You could help us to help them please listen to our plea and donate to our fund please give us a chance to help this cause.

Rare Disease Day 29th Fbruary 2012 Belfast St Marks Church Holywood Road 7-00pm to 9-00-pm

We are very pleased to say that Rare Disease Day Has found a venue at Heyns Hall St Marks Church Holywood Road East Belfast, we are pleased to say that to enable them to make contact with everyone with rare diseases and disabilty there is ample parking and wheel chair access, this event is a patient and family event for everyone with rare diseases and children and adults fighting cancer and disabilty. This event is for a time to remember and to meet people with disabilty both seen and not seen, the sponsor for this event is The Cavan Tommy Hoey Trust named after a little boy who is fighting two rare diseases himself, his diseases are XLP and EBVHLH. The Trust has set this day in its calander to hold this event to coincide with the World Rare Diseases Day that takes place every single year in Europe, USA and other countries world wide.The Trust has recognized the need for patients, family members and carers to come together once a year to disscuss and  talk about how they are coping and the comfort of knowing you are not alone living with a rare disease and a disabilty, we know just what is entailed in living with and looking after someone with a rare disease and with learning disabiltys.We hope to have various groups and speakers at this event but we have it timed that you will be able to talk and to meet with other groups and with other people that are attending, and know what you are going through. We invite our local MLAs, Councillors, Doctors, and Health Services to this event to enable them to meet and to listen to your side of living with and coping with a rare disease and disabilty. Rare Disease Day is your day, take ownership of it let it help to give you a voice that can be reckoned with  the need for change in the thinking of Rare Diseases and Disabilty is not and the need is just The Cavan Tommy Hoey Trust wants inclusion for all and to stamp out exclusion  

Belfast Rare Disease Day Faces A Brick Wall Finding Venues For 2011 Event

Northern Ireland organizer for rare disease day The Cavan Tommy Hoey Trust (Ireland) has run up against nothing but brick walls this year trying to find a venue to hold the second Northern Ireland rare disease day on the 28th February 2011. The trust had contacted the Belfast City Hall in November 2009 to ask the Right Honourable Lord Mayor Pat Convery to sponsor the event on behalf of the community of Northern Ireland, unfortunately he was unable to let us have a venue at The City Hall, the Trust was contacted by Chris Lyttle of the East Belfast Alliance Party to say he would try and sponsor the event for us at the Northern Ireland Assembly, when Chris contacted us it was like an answer to our prayers, but he also could not get the venue.The Alliance Party has always been a supporter of The Cavan Tommy Hoey Trust and we are very pleased to have last years Lord Mayor The Honourable Councillor Naomi Long East Belfast Member of Parliament and Patron of The Cavan Tommy Hoey Trust the trust looks on the 28th February 2011 as one of the most important day in its diary, just as the rest of the world holds Rare Disease Day,  it is a day when patients and their famlies all over the world remember and unite to raise awareness of the nightmare of  rare diseases and the impact it has on the family unit.Northern Ireland held its first ever event last year it was held at the Belfast City Hall on th 26th as the 28th was a sunday. The Cavan Tommy Hoey Trust was set up by the grand parents of little CavanTommy Hoey, after their little grandson was diagnosed with XLP only 100 Famlies in the world has the gene, he was also diagnosed with EBVHLH,another Rare Disease on returning from Bristols Children Teaching Hospital Terry and Maureen Hoey decided to set up the Trust, they also  contacted MLAs, hospitals and doctors to see if they had heard of Rare Diseases and to see just what was at hand for the children of Northern Ireland, also to see if our medical service could cope and diagnose Rare Diseases. The outcome was shocking no one had heard of Rare Diseases or how to diagnose them. Terry and Maureen contacted  the First Minster and the Deputy First Minister to Alert them of the position, they also alerted the Chief Medical Officer of Northern Ireland regarding XLPand EBVHLH .Terry and Maureen then set  up The Cavan Tommy Hoey Trust to try to raise awareness to the media, news and television, also setting up Blog sites all over the net to attempt to get information out regarding Rare Diseases.They both found it very hard work as both Terry and Maureen are ill themselves and trying to raise funds for the Trust is not an easy job, but they know only to well just what the effects are on all the family when something like this comes to your door, you will never know until you are walking in the shoes of a family that has Rare Disease. Terry and Maureen agreed they would raise funds for Cavan and for the Children in Northern Ireland as the need is great they have worked night and day even when news regarding Cavan was not good, they worked to get collection boxes into shops to raise funds to help with the fight against Rare Disease even though they had many doors closed in their face they had to keep going and explaining to everone they came in contact with about the nightmare of Rare Disease. Rare Disease Day was the cherry on the cake at last Terry and Maureen had been able to get the profile of rare disease out there, they contacted every single person in our Northern Ireland Parties and every high ranking person in the local goverment departments and leaders of local business community making sure that everyone knew of the nightmare of rare diseases and its effect on famlies, and inviting them to rare disease day at the Belfast City Hall, It was then we were contacted by UK Rare Disease asking us to hold a joint event as they were also holding an event at the Northern Ireland Assembly, The Cavan Tommy Hoey Trust ask Debbie Hoey Cavan's Mum and Cavan to attend both events, Terry and Maureen felt it would be a great platform for famlies and patients to meet and to show that Northern Ireland Cares about rare diseases.The Cavan Tommy Hoey Trust was shocked to hear that the event being planned by the assembly this year on the 3rd of March 2011 and sponsored by Sinn Fein. They did not make any sort of contact with The Cavan Tommy Hoey Trust  you only have to google The Cavan Tommy Hoey Trust to see just what time has been spent raising the profile of Rare Disease and the work the Trust has undertaken in the last year.Terry and Maureen look on this as a great snub to The Cavan Tommy Hoey Trust and to the patients and famlies that are going through the nightmare of Rare Diseases, and a snub to all the hard work that has been carried out by The Cavan Tommy Hoey Trust not to involve them in the planning of the reception for UK Rare Disease, and  to ignore  a Northern Ireland Patient Group. We are very pleased that the profile is again being raised at a high level but its just not about the nice things like coffee and tea its about the children who are fighting Rare Diseases in our wards all over the UK and Ireland, some children in hospital for weeks on end and famlies waitng on a diagnosis of a disease that man has never found a cure for, or tell the life term of the child with Rare Disease, it is only Patient groups that can tell just what is needed, Rare Disease is not waiting on meetings or receptions, Rare Disease is happening now and it is effecting our children, if The Cavan Tommy Hoey Trust  is to outspoken for some people so be it. Children like Cavan need a voice and need all the support they can get no matter where it comes from. Rare Diseases have no borders Rare Diseases is not so Rare Please Support The Cavan Tommy Hoey Trust and Belfast Rare Disease Day On the 28 February 2011

Terry Hoey
President  The Cavan Tommy Hoey Trust
86 Palmerston Road
Sydenham
Belfast
Northern Ireland
Co Antrim
email thetrustees@the-cavan-tommy-hoey-trust.org.uk

One year on for little Ellas Mum

2010 has found me enduring my first full year without my darling little Ella physically by my side. Although the pain of losing her appears to be sometimes more manageable, it is still very much unbearable when I face the reality, daily, that my life goes own and hers lives in my heart…

It has meant re-living for the first time the last few months of Ella’s short life. Each day etched in my memory… each bringing back its load of charged emotions...

2010 was the year of the Vancouver Olympics... The very reason I found myself moving to the west coast 5 years ago... A time which was meant for celebrations... A time which caused more pain than pleasure... because my heart was no where near festive... And seeing young babies all Canadianized only confirmed what Ella and I were not to experience...

It brought a dreaded first angel anniversary... And a second memorial birthday… Both, as warned by my veteran angel moms, were not as sad as the anticipation of each. Coupling the events with fundraisers kept me focused and busy enough that the moments were not only bearable but somewhat enjoyable… though the days before and after were still very tough to get through…

2010 has also seen me fail at more attempts to become a mom once again… And it has allowed the formal confirmation that Ella had a genetically-linked illness transmitted from me to her… I know what you are thinking… Those failures may have been my angel’s way of protecting her maman… but it does not make me feel any better…

With 2010 came the difficult realization of one more failure…. That of my relationship to Ella’s dad… And with it came the decision to finally put myself first, and separate… hoping Ella would understand...

2010 has brought its share of tears, from me and from Ella’s loved ones… but it also has brought laughter… At the very thought of the tricks that she keeps playing on everyone…

Unfortunately, 2010 uncovered more news of illness… And though I remain healthy, someone I love with all my heart is not so blessed… And just like Ella’s illness, this is they type of illness you hope you can beat… And so, we hope…

And yet... 2010 has been a good year…

It has found me become an advocate for families facing the disease that took Ella from me…

It meant a successful year back at work, full-time – after being away for nearly 18 months altogether rom the moment I went on early medical leave to the time I took to try to mend my heart…

In 2010, finally, came the launch of Everyone Loves Little Angels’ brand, a precious gift of talent from my friend Sophia Szeto…

2010 not only brought a confirmed diagnosis, it became the stepping stone for more medical analysis and, more importantly, a draft to an article to be published which will shed light and educate the medical community about PVNH...

It has culminated in over $11,000 raised in 21 months of fundraising for BC Children’s Hospital… And another $1,600 for Everyone Loves Little Angels… In addition to the couple of thousand dollars for Canuck Place, Children’s Miracle Network and Make-A-Wish Foundation collectively through various other activities…

With 2010 came the official first act of ELLA’s Teddy Program where super huggable teddy bears and glass angels were offered to parents who lost a child…

It also has brought me several times back to Montréal to be closer to my family…

2010 marks the first time I received a scholarship from CORD to attend a rare disease conference as the founder of Everyone Loves Little Angels and the PVNH support group…
And my first Action Day on Parliament Hill...

And among the best that came out of 2010 were the friendships, both old and new… Friendships that stand the test of time. Friendship that pick up where they were lost at sea anywhere from 20 to 30 years ago - and new friendships based on the strongest bonds… the love of a parent… the commonality of a rare illness…

So here comes 2011… So long 2010…

And aside from wishing my family and my friends nothing but good health, I am making exception this year and breaking tradition - wishing something for me… A good donor with a special egg… Just one… that takes… And for Ella… enough kind souls to join together to offer a Make-A-Wish in her honour by the time her 3rd memorial birthday comes…

ELLA - Everyone Loves Little Angels

Belfast Rare Disease Day 2011

It is Rare Disease Day # 2 for Northern Ireland, after the great sucess of last years Rare Disease Day Belfast is showing the world once more it cares about their children and rare diseases. The gates are open and Northern Ireland has seen groups who want to be involved ,The Cavan Tommy Hoey Trust Ireland has lead the fight against the nightmare of rare diseases in raising funds and bringing about awareness. 2009 has been a year of ups and downs for Cavan, our little grandson who has become the name and face of rare diseases. Cavan is still showing the world his true grit in the fight against rare disease he shows just what it is to fight something as big as rare disease, he cares about his fellow human being and still has the time to ask you how you are feeling,this little boy is so very brave just like all the other little children all over the world fighting rare diseases, they are showing us all and shouting out loud we are here and we have rights too,the need for funding rare disease is urgent and is needed now, the necessity for research is needed and needed now, the need for more information and the need is now,Rare Disease needs funding and it needs it now, Belfast is known all over the world  for its peace process, it has lead the way in understanding and the meaning of talking. Northern Ireland must now lead the way in showing the world just how much we care about rare disease, we must lead the world by getting our greatest asset Queens Universtisty  involved in the search for cures against rare diseases, we must lead the way as we have have in the past. We have some of the greatest people in Northern Ireland who are world leaders in research, we just need them to come forward in the fight against Rare Disease.The Cavan Tommy Hoey Trust knows that Northern Ireland could make the difference in the fight against rare diseases in leading the way for the rest of the world, and the united kindom, in patient care and family support the need is great, and the need is now. The Cavan Tommy Hoey Trust  pleads to the people of Northern Ireland to show the rest of the world and the united kindom  we care about Children with Rare Diseases, "Why because we know we can do this and the need is great"