Rare Disease Day Comes To Bangor Co Down Northern Ireland On The 28th April 2012 - Children's Hospital Los Angeles - Zimbio

The Cavan Tommy Hoey Trust (Ireland) will be taking its Rare Disease Day Road Show To Bangor Co Down Northern Ireland on the 28th April 2012 the Trust holds its rare disease day every year for the past four years but it has decided to also hold road shows to raise awearness across Northern Ireland the trust feels that awearness needs to get out into the public to help the People of Northern Ireland know and to understand about Rare Diseases and the effects it has on the family unit.

The Trust feels that Rare Disease is such an important issue for young mothers and for familys it feels Northern Ireland is lacking in the resourses to Diagnose many of the very rare diseases like Histiocytosis or XLP the need for a childrens hospital of exelence in Northern Ireland is vital to make the job of our doctors spot the very rare diseases like Histiocytosis and XLP that mimick other illnes is vital and urgent, the need for our doctors to be trained in how to sopt diseases that do mimick other illness is vital in the fight against rare disease.

The Trust feels to hold road shows is vital to get the message out to the public to enable young mothers to be awear of how theses disease look like and to spot just what to look out for,Northern Ireland has never held an event like Rare Disease Road Show and we hope it proves to be worthwhile and also hope it will put pressure on the Northern Ireland Health Minister to build a new Childrens Hospital of Exelence in Northern Ireland to deal with rare conditions and genetic diseases.

Rare Disease Day 2012

disappointing consultation on the UK plan for rare diseases

I’ve just been reading through the consultation document for the UK plan on rare diseases. Despite being well written, it’s rather disappointing.
The UK hasn’t yet had a plan or a strategy for rare diseases, unlike countries such as France, which is now on its second national plan for rare diseases. So it was with trepidation that we awaited the announcement of the UK consultation, on Rare Disease Day.
No specific funding for rare diseases
The first disappointment was that I couldn’t find anywhere a commitment to specific funding for rare diseases. While the second French national plan allocates €180 million towards rare diseases, there’s no mention in the UK consultation document of any UK budget for rare diseases.
Business as usual
The second disappointment was that the consultation document reads like ‘business as usual’, with few new initiatives proposed.
Read the executive summary. It’s mainly a summary of existing measures or statements. Here are a few quotes from the document:
- ‘There are already national screening programmes for several rare diseases.’
- ‘The UK participates in the Orphanet website, which is quality assured and one of the most comprehensive websites on rare disease in the world. The NHS also provides information on a variety of websites such as NHS Inform, NHS Evidence and NHS Choices.’
- ‘In the United Kingdom there is a wide range of patient organisations which offer help and support to people with rare disease.’
What about recommending a host of new initiatives to build on this? For instance, Rare Disease UK proposed a long list of possible initiatives in its ‘Vision for the UK Rare Disease Strategy‘.
Not much on research
The third disappointment was the research section, which is one of the shortest sections of the document, yet the area most in need of investment in the UK.
It starts by saying that ‘the UK is at the cutting edge of research into rare diseases’. This may be the case, but it’s definitely not because of any concerted government funding.
That’s why the following sentence is so grating: ‘Research is carried out by universities, the NHS, and other organisations. It is funded by Government.’
As anyone in the UK working in rare disease research knows, there is no funding available from the government specifically for rare diseases. Having spoken to several government funding agencies, I can tell you that rare diseases are at the bottom of their priority list. They made it clear to me that rare diseases cannot compete successfully for funding against common diseases such as cancer or heart disease.
That’s been confirmed by our experience at the AKU Society and by other patient and academic groups. Our funding for research has come from private sources.
This is completely different for the clinical side, where the UK is well set up for the care of ultra rare conditions through its National Specialised Services, which has a pot of money specifically ring-fenced for these. Why can’t the UK government do the same for rare disease research?
There’s also little proposed in the consultation document for patient registries, despite the fact that it’s increasingly clear that a centralised registry for rare diseases would make a significant difference. Nor is there much about the need to carry out major public awareness campaigns to help the public understand rare diseases in more depth. The document mentions research that shows that ‘almost all United Kingdom respondents (93 percent) agreed that people are unaware of the real problems faced by those suffering from a rare disease’ – yet it does not present any strategy for remedying this.
A robust UK plan for rare diseases would include at the very least the following three action points:

1. A long-term budgetary commitment to rare diseases, particularly a ring-fenced pot of money for rare disease research. This would kick-start research in the UK and prove that the government really does support this sector.
2. A centralised registry for rare diseases. This would make a big difference for natural history and long term observational studies.
3. A major, government-backed public campaign for rare diseases on the same scale as the awareness campaigns for cancer or heart disease. The UK public has very little understanding of the scale of the rare disease problem and how it affects patients. This needs to change.

So have a read through the consultation document and do feed back your comments on the consultation response form. The more of us provide feed back, the better.
You can download the consultation on the UK national plan for rare diseases here.

About the author

Nick Sireau

Dr Nicolas Sireau is Chairman of the AKU Society, a medical charity that works in partnership with the Royal Liverpool University Hospital to find a cure for AKU, an orphan disease affecting his two sons. He is a founding member of the international findAKUre coalition, which brings together leading research institutions, biotech companies and patient groups from across Europe and North America in order to find a cure to AKU. He is a former Director of GenSeq, a bioinformatics company. He is a fellow of the Ashoka Fellowship of Social Entrepreneurs and of the Royal Society of Arts. Dr Sireau’s previous career was in international development, where he set up SolarAid, an award-winning social enterprise bringing solar power to Africa, and wrote books on international aid.

Ella's Story Read Out At Northern Ireland Rare Disease Day 29th Feburary 2012 by Naomi Long MP at Heyns Hall St Marks Church Holywood Road Belfast

Ella’s Story

Feet Up! Ella always danced to the beat of her own drum

My name is Yolaine Dupont and I am Ella’s Mom. I live in Vancouver, British Columbia, in Canada and thanks to Terry Hoey and his family, I am able to share Ella’s story with you today. But before I do, let me tell you about my involvement with rare diseases. I am an affected patient, a member and support parent of the Rare Disease Foundation and a member of the Canadian Organization for Rare Disorders. I founded Everyone Loves Little Angels and PVNH Support in 2009, and in September 2010, I was invited to participate in a day on Parliament Hill to sensibilize the Canadian elected government to rare diseases. In March 2011, I received a grant to represent PVNH Support at the American College of Medical Genetics Conference. And although Terry and I never met in person, we became great friends because of our common cause: the fight for rare diseases.

Here is Ella’s story.

My daughter Ella Dupont Bedassie was born full-term at 39 weeks on August 7, 2008. Although she’d be slow to grow in-utero, Ella was born naturally and healthy at 5 lbs,7 oz. From the day she was born, I suspected breathing problems but was quickly reassured she was okay by medical professionals. So, we started our new life as a family, and enjoyed every bit of our little monkey of a daughter. But every once in a while, I noticed Ella’s breathing was off. And each time I brought it up to doctors, I was told she was perfectly healthy and not to worry.

When Ella was two months old, her breathing became clearly labored. An x-ray detected an anomaly on her lungs. At first, everyone was thinking Ella suffered from a viral infection. We were hospitalized for 3 days and discharged with antibiotics. Two weeks later a second x-ray showed a progression. Something was definitely happening to Ella’s lungs.

It took a few more weeks to confirm that Ella had end-stage emphysema on both lungs and that one of her lungs was grossly over-inflated, wrapping over her heart. By the time she was 3 months, Ella was in her 2nd hospitalization and facing a life-threatening disease. My perfect little daughter was plagued with an old people’s illness, and yet remained rosy, and happy – baffling medical professionals. Ella started 24-hour oxygen therapy to help her little lungs cope and we braced ourselves for a very rough ride, not knowing what really was happening to her.

Ella underwent a CT scan of her lungs, countless x-rays and blood work, a heart echo, skin and lung biopsies and a brain MRI among many other tests. She was seen by genetics, Ears/nose/throat specialists, infectious disease, rheumatology, neurology, cardiology, etc. At this point, doctors still had no clue what caused Ella’s problems. We were discharged because Ella was gaining enough weight and she would be more comfortable at home. Our return home lasted barely two weeks.

Ella’s breathing, even on 24/7 oxygen therapy, was still very problematic. She appeared to be de-saturating suddenly, and returning to the hospital, we found out she would dip as low as the 40s and 30s, when the norm is the 90s.

By December 2008, the medical team at BC Children Hospital had tried everything in their power to piece Ella’s medical mystery together. She did not appear to fit one single disease and remained undiagnosed. Every single test we did came back normal including genetic testing. Even a breakthrough procedure of inserting a balloon into her inflated lung to relieve the pressure did not work. At that time, Ella was intubated, and then put on a breathing mask before receiving a tracheotomy, where a tube inserted in her neck with a direct connection to her trachea. As Ella slowly grew bigger, her lungs continued to deteriorate and it became clearer than ever that she might not survive. But Ella kept smiling, playing, learning and most importantly fighting.

Ella hamming it up under her mask

 On March 27, 2009 – 4 days after being baptized in the Intensive Care Unit, Ella passed away peacefully in my arms, surrounded by family and amazing caregivers who desperately tried to save her life until her last breath. The emphysema had taken over her lungs. Ella lived 7 months and 20 days – most of it in the hospital. Had it not been for her very obvious medical equipment, you would have never known she was sick, let alone on borrowed time. In her short but oh so meaningful life, Ella touched countless people, and she continues to do so. Though punctuated by illness, Ella's days were filled with love and laughter. Ella was a bright, vivacious, fun little girl who loved to smile, dance to the beat of her own drums and play with everyone she came in contact with – her spirit far, far bigger than her little body!

But even after her death, her diagnosis remained a mystery. We had a few leads, but nothing concrete. So we requested an autopsy.

A few days after Ella died, I created ELLA – Everyone Loves Little Angels ^TM in tribute to Ella, with the goal of fundraising to provide support to families with children affected by rare diseases and bereaved parents. It was also my way of keeping Ella’s spirit very much alive.

At the same time, I was determined to get to the bottom of Ella’s disease. It took six months to get potential answers from the autopsy report which pointed very clearly to a rare genetic disease: X-Linked Periventricular Nodular Heterotopia (PVNH for short – where gray matter does not migrate to its proper location in the brain causing short circuits in development). Ella had not shown all the symptoms. In fact, the obvious one, epilepsy, was never present. So, some on our medical team were still doubtful. For the longest time, some doctors thought Ella had suffered from Cytamegalovirus, otherwise known as CMV. But somehow I knew that what plagued Ella came from me.

Our genetics team ordered her DNA tested to confirm the findings. But because Ella had died, we were told twice that our medical system would not pay for the test that was only offered in one location in North America, in Boston. On the third ask, we finally were granted funding to test, a blessing because the lab would not take a personal payment from me. After waiting nearly 2 months, we found that not only did Ella have PVNH but the responsible gene which is usually mutated was entirely missing. This complete deletion had not been documented to date.

By October 2009, six months after Ella’s passing, I finally received a formal diagnosis for Ella, a diagnosis affecting less than 1 in 1 million people, one made up of two rare diseases combined: X-Linked Periventricular Nodular Heterotopia, Ehlers Danlos syndrome variant (or PVNH4). With it, came the conclusion from the pathologist that Ella did not have healthy lungs to sustain a 3-kilo baby and yet, she grew and lived until she was over 7 kilos. My little miracle!

From there, my mom and my own diagnosis were also confirmed. My mom, then 71, was mostly asymptomatic, and I now know all my long-term medical issues can be explained by PVNH4. Upon finding out what took Ella from me, my quest to connect with and help families stricken by this disease was overwhelming. I created PVNH Support, and today, there are 73 other families worldwide affected by PVNH/PVNH4 that support each other. Most patients are children and none show the same symptoms with the same level of intensity. Nonetheless, we all share the same feelings: we should not have to fight for diagnosis, for treatment, for a cure. I am no longer alone and neither are they, thanks to my angel Ella. We now help each other through our families’ups and downs and educate each others and medical communities alike around the world. And this past January, one of my biggest victories was achieved when a paper was published in Neurology magazine featuring our family case.

Had I not fought so hard for my baby girl’s diagnosis, many families would be living alone, and in the dark. The most common comment I hear to this day from just about every family affected by PVNH is “I though I was alone”. And this is true of any rare disease you encounter.

We may be rare, but together we are strong. And children like Ella and Cavan are the reason we all fight so hard, to give a future to children and adult patients affected by rare diseases.

To close, I’d like to borrow the words of Dr. Seuss: Unless someone like you cares a whole awful lot, nothing is going to get better. It’s not.

Thank you!

Shawn Parys Story Read Out At Northern Ireland Rare Disease Day 2012 at Heyns Hall St Marks Church Holywood Road Belfast By The Patron of The Cavan Tommy Hoey Trust Naomi Long MP

Dear Naomi Member of Parliament,
Two and a half years ago, our lives changed forever. We had the 8th doctor my husband had seen in 10
months look at him and say, “You need chemotherapy.” Oh God….It was Cancer….we thought he had
cancer. Further explanation revealed it wasn’t cancer….but Histiocytosis. So was that better? We
thought so at the time. It wasn’t until he began treatment and we asked questions that we realized that
having Histiocytosis meant a LOT of unanswered questions and a LOT of uneducated doctors and nurses.
Shawn Parys is a 31 year old husband to his high school sweetheart, Lelynn Parys, and father of two
young children, Zoey and Logan, who at the time of his first chemo treatment were 2 ½ years old and 1
month and 1 day old. He was a Sales Engineer but due to symptoms from the disease attacking his brain
and the necessary chemotherapy treatments, had to forfeit his position in 2009 and focus his attention
to chemo, steroids, anti-nausea medications, blood draws, bone marrow production boosters, MRI’s , CT
Scans, PET Scans and so much more.
Shawn was diagnosed at age 29 (2009) with Neuro-de-generative Central Nervous System Langerhans
Cell Histiocytosis with Central Diabetes Insipidus and Periodic Alternating Nystagmus (ND CNS LCH with
CDI and PAN). The first symptom was Central Diabetes Insipidus at age 11 but we believe he was
“Under-Diagnosed” for 18 years for no one asked, “Why does an 11 year old have a damaged pituitary
gland?” The second symptom was age 28 with Periodic Alternating Nystagmus, in the short, he
continuously experiences involuntary eye movements. This symptom lead to one more thing he had to
forfeit...driving a vehicle. For fear of the safety of himself and others, he chose to give up his
independence and to not get behind the wheel. 2009 began the rollercoaster ride we so desperately did
not want to be on, but no matter how hard we tried, we couldn’t unlatch ourselves to get out…and so it
began…..
Life. Death. Our children’s faces as they grow up. Birthdays. First Dates. Graduation. Walking our
daughter down the aisle to marriage. Leading our son into manhood. Grandchildren. So many things run
through one’s mind when faced with an illness. What does one expect the future to hold now that it’s
been taken from you? The fear set it. It hit like a punch to the gut and a kick to the face. Shawn was
scared he wouldn’t even see his new born baby boy turn one. Constant thoughts of, “What if…” passed
through his mind and each one, kicking him again and taking one more piece of him as it fled. Being ill
isn’t easy…but adding to it the term, “Rare Disease” seems to make everything worse. No one has
answers. There are NO comforting words that give such hope to the future that you KNOW you will be
fine. It’s empty. It’s alone. It’s frightening. Shawn was constantly worried that the chemo wasn’t working
well enough; that his own body was slowly taking away his life from his hands…and there wasn’t a thing
he could do to stop it. It’s not cancer…no…in many ways, it’s worse….it’s Histiocytosis.
Month after month Shawn endured chemo, steroids, self-injections, blood draws, falling platelets,
neutropenia, and bone pain so severe the only thing he could do was to lay on the floor in a fetal
position, while our 2 year old daughter curled up next to him to, “Wait it out.” This was now our life.
This is what our future held.
One year later, we thought we were finished with chemo only to learn 6 months later he needed an
additional 6 months of treatment. We thought we were getting off the ride, but it deceived us and took
off again. By this point, chemotherapy was such a common word that our children were not just playing,
“Doctor” but would play, “Let’s go to treatment!”
Life and death often grabbed us by the collar when cold and flu season arrived. Scared to death he
would not be able to fight off infections often caused him to panic when someone coughed or sneezed
in the same room as he. Shawn didn’t even shake a hand while on chemo, and just to be safe, he never
really hugged anyone…even his own wife and children. Image it. A year and a half…barely any human
contact…it only added to the feeling of being alone.
So where is he now? What is his prognosis? What does our future hold? We wish we had an answer for
you. One Answer. But we don’t. We don’t know how well he’s doing. We don’t know what his prognosis
is. We don’t know what his future holds for him. The doctors simply Do Not Know. Can you, for one
moment, step in to Shawn’s shoes and feel the pain, discomfort, sadness, aggravation and frustration of
being told, “You have a Rare Disease. We don’t know why you have it, how you got it, or what to do with
it. You’ve done the chemo… Looks like it may have helped. Go home, and if you think anything else is
wrong, let us know.” That’s it. Wow……with all our technology, science, medicines, research….that’s it?
For a disease discovered in 1868….we know so little it’s almost as if it’s a new discovery. Wow…144
years and still not one question answered.
This disease hasn’t just affected 1 person. It hasn’t just attacked one man. It’s attacked his children,
parents, in-laws, church family, friends and me…the woman who has loved this man since the tender
age of 15. Watching our wedding video should bring such memories that flood one with joy and
laughter. Sadly, when I look into the eyes of that young couple and see all the hope they had for their
future, it brings me to tears, for I know that with 5 words, our life is changed forever. “You Have
Langherhans Cell Histiocytosis.” In those 5 words my life, my husband, my security, my heart was taken
from me. I had by my side a 2 ½ blue eyed blond curly haired little girl, in my arms a 1 month old
precious baby boy and in front of me, laying in a hospital bed, my husband. What? Wait…this is not what
we planned! Alright, fine…I’ll roll with the punches…ok…just answer this…Will he be ok? Silence. That’s
the true answer among the doctors and nurses stammering words. Silence. They Just Don’t Know.
So I, the caregiver, watched him as he received chemotherapy; watched him as he winced and moaned
from pain; watched him as he tried to interact with our children “safely;” watched him as he week after
week he fought to live. All I could do is watch. They say a caregiver needs to care for themselves as well
as the loved one. But how can one do that when they lose themselves due to the shock of it all? The fear
of it all? Often people would ask how I was doing. I’d smile politely and respond the usual, “Oh, we’re
ok!” Then once in a while, one person would grab my arm, look me in the eye and say again, “How are
you doing?” A response….I needed to respond. All I could say was that I was numb…it may sound
ridiculous but honestly, I had shut down and my body took over. I was in robotic mode. I did what
needed to be done, cared for those needing care, and breathed just deep enough to keep my body
going, but not enough to bring myself back to life. I didn’t know how I was doing. Everything I had was
changing and I couldn’t keep up with it. Now I was a stay at home mom, with a new born son, little girl, a
husband on chemo, we lost our health insurance, had to reach out to family for help so we didn’t lose
our car, had paperwork everywhere we went to try to keep our home and Shawn on treatment, had to
place our children on state health insurance, eligible to go to a food pantry for groceries, and our
calendar was booked with doctor appointments, treatments and blood draws twice a week. So where
was I suppose to fit into that picture?
I found one year later one person….one other person with Histiocytosis. That Opened A Door I NEVER
Want Closed. I woke up. I came to life. I found out that there are other’s out there fighting so hard to
live! To be heard! To get help! A little boy, under one year started a flame inside me that has only grown
bigger as each day passes. He has LCH…he is still fighting against LCH. But seeing his video…seeing his
battle…seeing his precious eyes…I Woke Up. It is not about me…it is not about Shawn…or our family.
This is about every one of us! We Are Not ALONE! Doctors tell patients they are “Rare.” Doctors tell
patients there “Aren’t Many.” But the doctors are wrong! I started looking for more, yes I found many
online and yes I searched them out. However, within 60 miles of my home I know of 22 people affected
by LCH alone! 2 other families from the same hometown Shawn and I grew up in! This disease is rare
because people SAY it’s rare. This disease is rare because no one tracks it to really see how many cases
there are of it and really calculate out an accurate figure. This disease is rare because doctors do not
know enough about it to properly diagnose it so it becomes misdiagnosed as Multiple Sclerosis, Chronic
Bronchitis, Eczema, Lymphoma, Irritable Bowel Syndrome, Ear Infections and so much more. This
disease is deadly and if it’s not deadly, then it’s debilitating.
We Need A Voice. We Need To Be Heard. We Need Help for these Histio Warriors. Newborns, born
stillborn or born attacked. Babies, facing pokes and prods to find out what’s wrong, only to realize its
Histio and now its chemotherapy and possibly a bone marrow transplant. Children, wanting to play
outside and go to school…only to be placed within hospital walls and to be looked at through glass
windows. Teenagers, suddenly take from us or just beginning the many, many doctor appointments to
come to actually figure out what is wrong with them. Adults, finding out they may have had the disease
since childhood or out of the blue….gone. No….it’s not cancer….it’s Histiocytosis.
There are 5 versions of Histio but each has potential to be deadly. How many more families must be
struck with Histio before we rise up and hear them? How many more Histio Angels must we gain before
we say, “Enough! This needs attention now!” When will that day come? How long must we suffer in
silence? Who will help us in raising our voice to be heard? What do we, I, have to do to gain that voice
for these Warriors and the families of Angels? Why is it, that the term, “Rare” takes all the wind out of
our sail and means we are to be left alone…afraid…and forgotten? We are here, and I will continue to
fight for help until help arrives.
Today is not only Rare Disease Day but also a Leap Year. I hope that from this point forward, each “Rare”
Leap Year that passes makes you think of all the “Rare Disease Warriors” fighting for life, fighting for
help, and fighting for a voice. We thank you for your time and I thank you for listening to the words of a
simple wife and mother, fighting for each newborn, baby, child, teen and adult fighting Histiocytosis

A Little Boy Called Cameron Histio Warrior

   My name is  Anne Devenney and I am the Mum of a very special little Boy called Cameron. 

   Cameron was born on the 10th Aug 2006.He was a happy and very healthy baby and as the youngest of four children he was so loved.He developed perfectly and grew into a very mischievous Toddler who could melt hearts with one of his smiles.

    At 11mths old after a bout of sickness,I noticed a purple rash on his legs.We took him to a local small injuries unit as I was worried about meningitis.

 They really just didn't have a clue and we were given the choice to go to a bigger Hospital where they discovered that Cameron's white cell count was very high and then they noticed a large lump in his abdomen.

 

 We were just left reeling as we were taken for scans to see what the lump was.They found it was his spleen and we got the impression that they thought our Baby had leukaemia.

  I have never felt so afraid in all of my life.I will never forget the look on the Nurses faces but they couldn't be sure.

 We were sent the very next day to Birmingham Children's Hospital by Taxi which was just so surreal it was almost as if I was looking in on someone else.

Tests confirmed our Son didn't have Leukaemia but there was an abnormality in his Bone Marrow.The Hospital seemed shocked as hey had been so sure. Cameron had also received blood so had made an amazing recovery and seemed quite well so we were discharged.

 

The next four months we were back and forwards to the Children's for test after test.Cameron's had the experts scratching their heads .He had developed so well that he didn't fit into any of the diseases they were looking for.Our son was becoming a Medical Mystery.At one point the Hospital even forgot about him and it was only because I phoned that a final test was done.

 

 We had always said that we felt like we were waiting for Cam to get sick again before they would find out hat he had.This happened on the 7th Nov 2007 and I will never forget ringing the Hospital in tears and saying "I'm really scared, my son is very ill ". The Doc asked us to come in the same day as the results had come back.

 

 We were told that our son had a very rare blood disorder called HLH (heamophagacytic lymphohistiocytosis) and to be honest we were relieved as it didn't sound that bad.Our consultant looked at us gravely and said "this is a very serious life threatening illness" we have to admit him now to start chemo in the morning. I have to say at that point my whole world fell apart.For the first time  I sobbed in front of my precious little Man.

 

 On admission to the ward I remember being given a Cancer Booklet.I felt very confused and asked the Nurse if he had Cancer.She just said that it wasn't but they were the only books they had and just pulled out a few sheets. I asked for some leaflets on my Sons disease to be handed a computer printout with the bad bits blacked out  and told not to search the Internet as I could find incorrect information.I know our consultant had struggled to find this and I suddenly felt even more worried that if they didn't have info then how did they know how to treat it.The Nurses had never heard of it and didn't really see him as "sick" .I was completely on my own in a ward of Mums who I just couldn't relate to as they all had Cancer and my Son didn't so "was not that ill"

 

Treatment began and our Docs were unsure whether a Bone Marrow Transplant would be needed.It soon became apparent that Cam would need this as initial treatment left him so ill.(We believe that after four Months of testing the disease had already taken its toll). Our older children were tested and all came back as a 100% match.Our Son who was 5 at the time was chosen as he was the same sex. We were so happy and full of hope but it was so difficult knowing that we had to put another one of our Children through an operation to save the other.

 

Cameron received his new cells on the 29th of Jan after a gruelling course of Chemo and it was only now that people realised how ill he was. All went well till just a few days later when Cameron developed condition called VOD where the liver swells and the body fills with fluid.They could have pretreated but he was so unlikely to get it with such a perfect match.Our son looked so ill and had to be propped up on pillows as everything was pushing up on his lungs.He just escaped going to intensive care but Nurses were shocked that he had made it through.

 

Things just seemed to get worse after that with Cam developing Graft Versus Host disease of the Skin.He looked like he was being burned badly by the sun as his skin just peeled and he was so red and sore.We had to cover him in a huge tub of Vaseline on a daily basis. He would be constantly itching and struggled to sleep.

 

 Just when we though he was getting past this he developed stomach problems which we now think was GVHD of the Gut.He would scream out in agony as he was in such pain and was on so much morphine it was just heart braking. I felt so helpless as all I could do was hold him but I couldn't stop any of it.

 

  This all went on for a couple of weeks and then we noticed that Cams breathing had become laboured and he was rushed to intensive care and put on life support. Test after test was done to see what was wrong.His lungs were filled with gunk and although they tried everything his machines had to be turned up to the highest levels. We were told that we may lose him and had to tell our Children that their Brother may not be coming home.

 

 Our Docs were amazing and even liaised with an American doc to try an treatment which was his last hope because they just didn't know what else to do.Lack of knowledge of the disease just left them clutching at straws.Sadly it didn't work and on the 22nd of April 2008 our Precious Sons machines were turned off.

 

 I held my Precious Baby Boy in my arms as he took his last breath.

 

   I look back now and know that if they had been more aware of rare illness then my Son may have been saved.We would never have felt alone and would have had the support we needed.