Diagnosis
Health professionals have long been so helpless in front of a rare disease that they often did not even dare to make a diagnosis. Not any more. Diagnosis is now available for about 1,900 diseases, though not one single European country can provide all existing tests. Use of existing treatment and drugs has improved. Increased numbers of orphan drugs are now on the market. Rapid progress is made in advanced therapies. Today no one should have the right to say to a family: “nothing can be done”.
EurordisCare studies* show that diagnosis alone considerably improves quality of life and life expectancy by reducing unnecessary medical interventions, inappropriate treatments (including psychiatric), the birth of other affected children, maladapted family behaviour and the loss of confidence in medecine.
No diagnosis: no treatment. For example: gene therapy, recently successful for children born with adrenoleukodystrophy, must be implemented as early as possible in life to prevent irreversible brain damage.
National plans
How to give isolated patients and families equal access to early diagnosis and care? By bringing together all available expertise and resources. In 1993, Denmark organised two centres of expertise for rare diseases, then Sweden and Norway. In 2001, Italy designated regional centres. France implemented the first national plan for rare diseases from 2005 to 2008, soon to be followed by Bulgaria, Romania, Spain and Portugal. Following the Recommendations of the European Council of Ministers, plans are currently in preparation in Germany, Hungary, Ireland, Denmark, Sweden…Everywhere, patients and their associations are playing a key role throughout the process.
What do we want in a national plan or strategy? Integration of all initiatives and resources: improved diagnosis linked to better awareness, information, training of professionals, clinical laboratories and centres of expertise; centres of expertise instrumental for research, registries and clinical trials, good practice guidelines, improved social care. Last but not least, long term sustainability of appropriate health and social policies, vital necessity for 30 millions patients affected in Europe by one of the 6,000 to 8,000 rare diseases.
*Eurordiscare studies : “The voice of 12,000 patients”, www.eurordis.org
After I read the article about Christel Nourissier and her daughter I was filled with memories of my mother Gladys Rick (1931-2006) who finally found out my diagnosis 25 years after I developed a rare disease at age 11. She was only told that nothing could be done for me and in 1974 that statement was totally true. My mother and father had three other children, a new home, and just formed their own packaging and corrugated box company one year prior and worked from dawn to dusk.
Their business grew and was making more money then they imagined. More importantly, our family was very close and our home was full of laughter and love.
Then suddenly they had to deal with the horror of watching my face melting away.
My parents researched every experimental treatment they could find. I was put on a almost a massive dose of Vitamin A and E. I had radiation treatments and took antibiotics everyday for three years. Were they doing the right thing? One doctor commented that taking a 25,000 units of Vitamin A at my age could have killed me.
My parents needed answers, support, and refused to just give up.
I was diagnosed in 2001 that I had Parry Romberg Syndrome. There was a new surgery available performed and I was referred to John Weston Seibert who was one of about three doctors in the country who could perform a vascular flap transplant. The cost was 40,000 dollars. My mother along with Dr. Seibert wrote letters to Oxford Health Insurance who considered this procedure “cosmetic.” My mother contacted Dr. Norman Oreintriech who filled my face in with monthly silicone shots from age 12 to 17 had boxes of photos he took of my face every monthly visit to use for research still in the basement of his Park Avenue Office.
I was denied any coverage because “I looked too good” but my mother appealed the decision and based on the photos of me taken almost 25 years ago, and a diagnosis, I was covered 50 percent of the cost of the procedure. I since had 3 revisions done on my face and my last procedure to revise my face was covered 80%.
I am sure there were many others dealing with rare orphan diseases that also fought to be covered by insurance.
On a sad note, one year after my father died I was diagnosed.
My heart goes out to you.
Dear Cheryl, It seems that over and over again, people suffering from hideous illnesses, do not receive a correct diognosis for decades. I personly think that the only solution to solve this problem is to educate the medical students in how to proceed when confronted with an unknown disease. I could imagine a central institution, not unlike the one at the UN, where there is a data-bank set up with a listing of all known rare diseases in Europe, or the world for that matter, and how to proceed, ( experts, symptome discriptions, infos etc.) I am aware of NORD and other sites, I am thinking more of a help for all those helpless doctors. Another very important aspect; that the med. students also learn how to treat a patient and not only his/her body. I am sure there are thousands, if not millions of patients, who have experienced these humilitating circumstances.
I wish you strength and ditermination !! From a fellow patient.
I have genetically confirmed Cowden syndrome and the main problem is inability of our (I live in Latvia) healthcare bureaucrats to admit, that these are needs of patient that matters. And I am regularly asked: “Why should you be treated differently from others?” Well because I am not a common case, most of the doctors have never heard about such disease and of course they do not know how to deal with even the most common problems. Should they wait or operate this immediately? Should they use old (and cheaper method) or something more advanced? Should they make this (whatever) expensive test despite the fact that it is not and will never be included in the general screening program? Should they do gastroscopy just because patient is complaining of frequent acid reflux?- these are just a few questions I have encountered….
But there is one thing that worries me very much – the so called 1st degree relatives- they have already come to conclusion that it is not use to go to the doctors, any doctors, since they do not care about patients, but even if they did- nobody knows that they are related to me and most likely they will never be examined carefully enough, to exclude any tumors….Especially my junior sisters and two cousins, who much younger than the age generally associated with serious diseases.
I really would like to connect with someone that has Cowdens disease. I can not find any support groups out there. I am 32 years old, diagnosed with both Thyroid and Breast Cancer in the same year. I also have a menegioma in the brain. There is no family history, and Im just shocked. I would love to hear from others that have been diagnosed with this syndrome. I will be giving blood work here soon to find out if that will explain everything.