Professional Documents
Culture Documents
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In Romania, the Romanian National Alliance for Rare Diseases prepared for
the largest Rare Disease Day commemoration yet, since we started with the
event in 2008. For the third year, we have the support of Genzyme and our
own resources: volunteers, Medcal Universities, Romanian Genetics Society
hospitals and the RONARD network.
The newly formed National Committee on Rare Diseases, made up of patient
organizations and specialists as been hard at work planning events
throughout the country and working on the National Plan for Rare Diseases.
The National Plan includes new personalized services for patients, support
for research projects, creating a network of Centers of Reference, and
increased access to orphan drugs.
This year events will be held in cities across the country including:
Bucharest, Timisoara, Cluj-Napoca, Iasi, Craiova, Zalau, Targu Mures,
Slobozia, and Oradea.
The goal of this year is to have the National Plan for Rare Diseases included
in the National Strategy for Health by the Romanian Ministry of Health. In
reaching this goal, we aim to spread awareness about the situations of rare
disease patients to groups ranging from school children to specialist medical
professionals.
We wish everyone around the world success in their events this year and
hope that Rare Disease Day will bring us closer to the goal of better care for
patients with rare diseases.
National Alliance for Rare Diseases Romania - ANBRaRo has celebrated the
International Day of rare diseases in Romania on February 28, 2010 for the
entire month but, more activities were organized in the week 22-28 in:
Zalau, Oradea, Cluj, Baia Mare, Bistrita, Alba, Brasov, Targovise, Sibiu, Iasi,
Tg. Mures, Ialomita, Campina, Bacau, Timisoara, Arad, Resita and Bucuresti .
The theme this year is: "Rare diseases - a public health priority",
priority is research on rare diseases.
Our campaign slogan:
Media outreach campaign. Stories about rare diseases from the perspective
of patients or specialists are presented to the public in blog posts, on radio,
and in written press.
The kick off of Rare Disease Day will take place in Zalau and begin with a
march through town of rare disease stakeholders to raise public
awareness. The day will culminate in a show at the Local House of Culture,
which will include presentations and remarks from patients and local
authorities, the viewing of the rare disease day 2010 television commercial,
and artistic performances by local community groups.
TV Antena 1 – “Live healthy” – Dr. Corin Badiu will speak about rare
diseases on 24.02.2010;
Televised round table with medical personnel, political and cultural figures
from the Banat region will focus on their involvement in rare diseases.
Spot TV, audio; media campaign and sharing information materials
all over the country;
Starting the first day of February, the National Alliance for Rare
Diseases National campaign launches "healthy and sick, Partners for
Life", the International Day of rare diseases, officially marked the
last day of February.
Example:
Today rare diseases are a major concern for public health and start to
be a priority for health programs and research. But 80% of rare
diseases are genetic diseases and is the concern of every day the
doctor trying geneticist by training and his dedication to helping
patients and their families. Because of the very large number and
complexity of their diagnosis and treatment of rare diseases is often
difficult process, which involves constantly updated with professional
knowledge, much patience, depth and willingness to work as a team.
As a doctor you are concerned about Do not let any detail that might
help you find the correct diagnosis: detailed family history, clinical
examination of the patient, all medical events and therapeutic
patient's life. Then follows that diagnostic decisions to guide you, that
genetic testing would be needed, what therapeutic management plan
to choose. Often these steps are not at all easy-e first time you see a
patient with a particular rare disease and you must document very
well, the disease has various forms and manifests itself differently in
different generations, genetic tests can not be made in Romania or
very expensive, it takes more consulturi and investigations that will
involve collaboration with colleagues from different specialties.
Geneticist physician must then complete medical act Genetic
counseling, establish and communicate patient and family, the risk of
recurrence of disease and how to reduce it. You must find the right
words and make sure that the information they give is well understood
and will help the patient and his family. It's wonderful to hear:
"although doctors did not know that there is genetic, your discussion
was a welcome lesson in genetics, after many years I grasped what my
condition. But beyond the professional, all these years there have, for
me, the true lessons of life.
Sigmund Freud said that every man you meet us in our way is superior
to anything and we must try to learn that "something" on each. Rare
Diseases campaign message this year-"A disease is rare when it
affects you you" - says a lot in terms of patients. The absence of a
clear diagnosis and appropriate therapy, late diagnosis, countless
consulturi join emphasizes the feeling of isolation and suffering.
Courage to go forward, not to abandon hope, come slowly realize that
when they are not alone, that they listen and help. "A good word" may
matter more than any treatment, especially when there is no
treatment to cure. Many families have chosen intuitive way of dealing
with their child's illness, not knowing any diagnosis, nor how they
should care. They have done well often have wrong many times, but
certain is that the progress their children are largely due. The Bible is a
passage that says that having faith is believing in what you do not see
and the reward for this faith is to see what you think. Many parents
were obtained, with patience, dedication and a lot of love, exceptional
progress where no one thought could be, despite the severe disease
without curative therapy. Youth association muscle and
neurodegenerative diseases, and certainly not just her business cards
are the parents and their families-although have never and are living in
a cart with wheels, their example of determination, will and courage is
certified how they talk to others, the results of their work, the faculty
completed diplomas.
May be finished one year out big snow flakes falling quietly with
dancing to the beat of his stride Hrusca Green Heaven. With hope that
we will find together the joy of being, the wisdom of giving and
receiving, the power to accept, willingness to open new beginning
every day just continuing what is past, I wish you all Merry Christmas
and New Year full of achievements!
The story begins 44 years ago ... Just, an old story, almost an ancient
one ...
In 1984 graduated from high school to date, but I have not attended
university because of illness, because I realize that makes the diploma
after graduation, since I could not go to work ... the same time we are
stopped taking medication because found that, in my case, it ... I
accelerated the degenerative process
Even then and even now I have asked "Why is this happening to me?",
And I preferred to accept the de facto situation and to focus on future,
not past.
Then came 1989 and I brought the issue, that I could say I was working
and helping others, including my parents. What can be more gratitude
for someone convicted of being forever home care, family support and
to reach not only?
I will detail what we did and are professionally and socially, it's over
and are about stupid with free time .., and I will not say just how I got
you to write here ...
The disease has advanced, in 1996 using a wheelchair, but still in 1996
we started to be increasingly more active, the wheelchair was not a
ceiling, but an opening / Total Freedom, a launching pad ...
However, I was not turned ... For years I searched for her everywhere,
but it was well hidden ... until 2003, in the fall, when I found one on
Cristina. On the net ... We first met on December 20, on February 14 I
asked my hand and on June 5, 2004 I became the official U.S. ...
But the eternal "but" ... one day I read on a site, whose name deserves
mention here because it changed everything (www.eva.ro), an article
signed by a genetic doctor lady, Cristina Skrypnyk Oradea . Also a
"Cristina" ... I started a search on the net and found e-mail address, I
wrote, and by Christmas 2005 I received an extraordinary response:
not only that the test can be done at Würzburg, in Germany, as well as
Mrs. Doctor can help with preliminary tests and final test! So the job!
We started 2006 with a vengeance .. and I sent in Wurzburg, all
supported by Cristina (lady doctor became the new 'Cristina' ...), my
DNA to determine the exact mutation. The result came in March,
identified the place, and everything I had to do was ... you know ...
August brings us the news: we'll be parents! For that emotions do not
leave us, a hematoma appeared decidural threatening pregnancy
evolution and we stress about 3 months ... In fall was planned
amniocentesis and sending all the Wurzburg sample to face the two
DNA sites but, as the Romans, practitioner, clinic chief, etc., of all
making late amniocentesis saying it's too early, while the German was
intrigued of late ... So we invited them and do everything there for free
(danke sehr Herr Professor Kress!) ... said and done, on November 28,
2006, at 9, go by car to Wurzburg, and the next day at 13 I was there,
going almost nonstop for more than 1,000 km ... I have never done
amnio, but placentocenteza and we went home full of emotions and
thoughts about the result ... result that Santa brought us: the child was
well! Joy had no edges, no our gratitude to Cristina and the entire team
who made it to help us, without whom we would not have been three
now and very happy!
On April 25, 2007 came Theodor Cristian, stork landing was perfect ...
who were godparents of baptism? Who do not you already guessed?
Cristina, Alex and Stefan Skrypnyk ...
Now we are fast approaching 3 years old, are hyper energetic, know
more, do more ... and crazy ... and enjoying every moment they spend
together with our minunelul (NASA tells it ...), only without grace or the
who have helped the progress of genetic medicine ...
My name is Aurelia and I am from Bucharest and I would like to share a little
bit about my life. I got married when I was 19 years old and when I was 25
years old; I had my third child, a baby girl to join her two brothers. I thought
that there was nothing more I could want out of life. When my daughter was
only two days old, her pediatrician called to ask if something had happened
during my pregnancy. I did not understand a word that the doctor was
saying. Then he came out and said it, “Mom, your daughter has some
problems.” He told me my daughter had motor weakness and was not
feeding properly. I was shocked and fell down. I told my husband and I
decided that when I left the maternity hospital, we would go to find the best
geneticist that I could. My daughter had pneumonia 6 times before she was 6
months old. I decided to treat Maria normally, and asked her brothers to do
the same. I bought books on massage, gymnastics, and speech therapy. I
was determined to help Maria overcome her developmental delays. At one
year and three months old, she could not hold her head up, could not stand
up without help and was sleeping a lot and eating very little. At two years
and nine months she could stand up alone and I cannot describe the joy that
brought my husband and me. At four years old, the feeding problems turned
into weight problems and Maria was labeled as obese. We started locking the
kitchen, warned others not to give Maria food, and sent her off to regular
school. She finished 8th grade and did a lot of sports with me. At 18 years old,
Maria developed Type II Diabetes and began taking insulin. Finally, when my
daughter was 28 years old, we had a diagnosis; Prader Willi Syndrome. Why
had it taken so long to diagnose my daughter? Why hadn’t any of the
specialists I took her to figured it out? These are questions that will remain
unanswered. That same year, Maria developed a serious staph infection and
needed to go on kidney dialysis. Her health conditioned worsened and she
passed away. In memory of Maria, we all need to be involved with helping
children with rare disorders.
Two infokiosks were purchased, one is located in Zalau, inside City Hall and
another inside the Children Hospital "Louis Ţurcanu" in Timisoara. The
infokiosks offer information about serious medical conditions, treatments and
about Prader Willi Association’s NoRo project.
The info chiosks were acquired through the "Partnership Norwegian -
Romanian for Progress in Rare Diseases, funded by the Norwegian
Cooperation Program.
During the conference on 26th of February a mother of a young girl with PWS
who died last year made her story public.
“She was a child of 28 years, when she took off to heaven. It was a
miracle that she remained so long with us. We are talking about
Mary, who could have had the chance of a better life if doctors had
correctly given us a diagnosis in her childhood: no one knew she
had a rare disease until it was too late…”
TVR1 presented a story on Rare Disease Day along with Dorica Dan –
president of RPWA and RONARD and Dr. Razvan Chivu from Ministry of
Health who discussed Rare Diseases as the Theme of the Day.
Rare Disease Day is celebrated on February 29, one rare day that
"happens" only once every four years and therefore illustrates
the concept of rarity. This year it will be celebrated on
February 28, 2010.
The motto for Rare Disease European Day of 2010 is "healthy and
sick - partners for life"
Since 1999, the European Union took steps to work for rare diseases and to
fight against the impact they have on patients lives, and made of rare
diseases a priority in public health programs. In recent years, several
Member States have developed national plans for rare diseases. The National
Alliance for Rare Diseases is working on completion of the plan and the
proposal for inclusion in national public health strategy.
The most common cause is genetic (85% of the approximately 7,000 rare
diseases known to date). Along with rare genetic diseases there are a
number of infectious diseases, cancer and neuro-degenerative diseases.
Patient with a rare disease is an "orphan" of health systems, often without a
diagnosis, without treatment, without research, therefore no reason to hope.
Between 6000 and 8000 different diseases have been identified, affecting 25
million European citizens. Patients with rare diseases and their families are
particularly isolated and vulnerable. Life expectancy of patients with rare
diseases is significantly reduced and many have disabilities that are the
source of discrimination and reduce or destroy educational, professional and
social opportunities.
Around 300 young people from Salaj, with placards with the names of rare
diseases, marched on Monday, accompanied by music band 'Promenade',
Zalau, trying to raise awareness on rare diseases.
The action was organized by Prader Willi Association in Romania (RPWA), in
partnership with the National Alliance for Rare Diseases, the International
Day dedicated to the campaign of rare diseases, celebrated each year on
February 28.
March was followed by a show that was held at Culture House of Unions, and
that included moments of music and dance, but also presenting plays that
are part of an unprecedented volume, with 10 stories about children with
disabilities or diseases, gathered under the title "Together in the world of
innocence '.
'These are two stories written by teacher, in Zalau and Treznea, children with
rare diseases. They are told stories that could be real, 'said Dorica Dan,
president RPWA Romania.
International Day dedicated campaign of rare diseases will continue Tuesday
with a conference for family physicians on neuromuscular diseases and the
book launch said stories.
In the European Union, a disease is considered to be rare if it occurs in less
than five in 10,000 people. Worldwide, approximately 8,000 known rare
diseases affecting 75% of these children. Diversity and large number of rare
diseases is that different expertise is rare. At European level there are over
25,000,000 patients with diseases, of which over 1,000,000 are in Romania.
Around 300 young people from Salaj, with placards on which were listed the
names of rare diseases, marched on Monday, accompanied by music band
'Promenade', in Zalau, in an attempt to raise awareness on rare diseases.
The action was organized by Romania Prader Willi Association (RPWA), in
partnership with the National Alliance for Rare Diseases, as part of
International Day dedicated to rare diseases, celebrated annually on 28
February.
The march was followed by a show that was held at Culture House of Unions,
which included music and dance moments, but also presenting plays that are
part of an unprecedented volume, with 10 stories about children with
disabilities or diseases, gathered under the title "Together the world of
innocence '.
'These are stories written by two teachers, in Zalau and Treznea, children
with rare diseases. They are told stories that could be real, 'said Monday
Dorica Dan, President RPWA Romania.
International Day dedicated campaign rare disease will continue Tuesday
with a conference for physicians on neuromuscular diseases and the book
launch said stories.
The European Union is considered a rare disease that occurs in less than five
in 10,000 people. The world's approximately 8,000 known rare diseases
affecting 75% of these children.
Diversity and large number of rare diseases and different causes are rare
expertise. At European level there are over 25,000,000 patients with rare
diseases, of which over 1,000,000 are in Romania.