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.

the-cavan-tommy-hoey-trust.org.uk - The Family

the-cavan-tommy-hoey-trust.org.uk - The Family

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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