ET SI VOUS AVIEZ UNE MALADIE RARE ?

ET SI VOUS AVIEZ UNE MALADIE RARE ?


Hi Romain, everything OK? No, I think I have a rare disease Who told you that? I guessed it myself But what exactly do you have? A bit of fever and a sore throat You have a sore throat? That’s not a rare disease at all Yes, it is, because, normally, I’m never sick Yes, all right, I knew it So, it’s rare Yes, yes, I see And so, since I’m sick, it’s a rare disease Yes, I see what you’re saying but, no, that’s not how it works Do you know what October 1st is? It’s André Rieu’s birthday No. Okay, yes, but we don’t care. But, well, no, we do care, André Rieu is very nice, for sure, but that’s not the point. October 1st is international Gaucher Disease day You don’t know what Gaucher Disease is. Gaucher Disease has nothing to do with the French word for being left-handed; that’s not an illness … Gaucher Disease is a genetic disease It’s a lysosomal storage disorder OK, we’ll just call it “Gaucher Disease.” There are three types: the first, which is also the most common since it affects 95% of patients, and two other forms that are rarer and more serious and which affect the nervous system. But I feel that I caught your attention with this story of lysosomal storage disease. You want to know, you are curious, you want to understand, that’s why I like you. Well, to draw you a picture, Gaucher Disease causes a deficit of an enzyme that is used to break down certain substances that accumulated in the lysosomes. And, the lysosomes are components of a number of our cells, so the affected cells don’t work properly. And, when it occurs, it mostly affects the cells of the liver, spleen and bone marrow. The symptoms of Gaucher Disease can be fatigue, pain and bones fragility, often in the legs or pelvis In addition, the belly can also swell and becomes painful. And, there can be problems as well with blood components that are produced in the bone marrow. Like the number of red cells dropping, or coagulation problems associated with bleeding. In the gums or nose for example, or bruising easily. So, why didn’t you know all that? Why didn’t you know about Gaucher Disease? Because Gaucher Disease is a rare disease. To give you an idea, a disease is called rare when it affects less than one person in 2,000 Gaucher Disease affects one in 60,000 people worldwide. In France, it affects 500 people, so, you see, it’s rare. So, you’re going to say, “Yes, but when you’re sick, whether the disease is rare or not, it’s still the same: you’re sick.” And I’ll tell you, “Well, no!” Well, no, but to understand why, we’ll give you a quick reminder about what happens when we’re sick. When you are sick, you go to the doctor. And the first thing the doctor needs to do to know how to treat you is to find out what illness you have. It’s called making a diagnosis. To do this, your doctor will ask you questions and examine you to determine the signs – the symptoms – that you have, for how long, when they appeared and so on. Sometimes, if the signs are clearly those of a specific disease, they are enough for the doctor to make a diagnosis. But, sometimes it’s a little more complicated… If there is any doubt, or if more information is needed to be certain, the doctor can ask for exams, such as an x-ray, an ultrasound, a scan, etc., and more exams, such as blood tests or … other things And, again, if the results and the symptoms match perfectly with those of a disease: the diagnosis is made. But, sometimes it’s a little more complicated… Sometimes the symptoms, the results of the exams and the analysis don’t match up fully with the check-list of a known disease, so the doctor may send you to see a specialist, depending of the kind of symptoms you have. The specialist then starts all over again, doing pretty much the same thing except that, as a specialist, they are used to more special cases in their own field and voilà ! A diagnosis. You know what you have. But, sometimes it’s a little more complicated… Sometimes the specialist can’t find anything either, so you have to see another specialist, then another, then another … Sometimes nobody finds it, sometimes we end up telling you that it’s in your head, sometimes you do not give up and one day we find it. The time between when we start looking and where we find it is called “wandering diagnosis”. Pierre Lapin had said it well in the video where he told us about his Becker myopathy; I put the link in the video description and invite you to go watch it. When you have a rare disease, this diagnosis wandering lasts an average of four years, or even 10 in the case of Gaucher Disease. Ten years to wonder what one has, to be afraid of never finding out, to doubt, to worry, is a very long time. During this time, since we do not know what you have, we cannot cure you. But, it’s not bad that it provides a diagnosis: when we know the disease, we know the treatment to provide. Finally … when there is one. Yes, because another painful thing about rare diseases is that there are specific treatments, that is to say, treatments really intended for this disease, only for 5% of them. For Gaucher Disease, for example, there are treatments, and the earlier they are started, the more they can slow the progression of the disease, and thus prevent irreversible damage. So, you see, the diagnostic wandering is time lost that cannot be recaptured. But even for diseases that are yet to have a specific treatment, it is important for the patient that there is a diagnosis and to be recognized as having a rare disease. First because psychologically, it removes a weight say all of the people to whom I spoke. We are not crazy, we really do have a disease that exists, so we do not need to look anymore since we have been diagnosed. It’s another fight that starts, but even if you’re fighting, you need to know what you’re fighting against. Another positive thing is that having a diagnosis and being recognized as having a rare disease, leads to enter into a specialized care circuit truly adapted to the illness. The patient can benefit from specific treatments available as well as from other treatments, which are not necessarily a cure for the disease but can help anyway and that can also slow down the progression of the disease or at least limit its effects. This also means access to the latest research advances, because, yes, some are able to participate in clinical trials of new treatments. And then there is everything else, such as being in touch with specialized teams in referral centers for rare diseases, because, as we have just said, specific treatments for the disease are not the only ones that can be offered. There is also physiotherapy, occupational therapy, psychologists and so on. Not to mention something that may seem secondary from the outside but is actually very important: access to patient associations. Overall, we agree, when we are living with something, it’s good to talk with people who are living the same thing. So, imagine when it’s something like a rare disease: a tedious thing, a thing that you may have thought for years that you were the only one living with it. Just for that, associations are extremely important. In addition, associations are sources of advice and valuable information on everything related to one’s illness and care … Did I say it was really important? In this case, associations have created a platform for rare diseases, and I have included the link in the description, for those who are interested. So, you see, once the diagnosis is made, it can change someone’s life. The sooner, the better. So, why are there no specific treatments for rare diseases? Well, to find a cure, you have to look for one. And researchers are not searching for what they want to look for; they are looking for what they have funding to look for. And funding is obtained more easily for diseases that affect many people. We talk about complex diseases and there are many but we will come back to it, and each one affects a small number of people. So, to engage in research is much more complicated. It’s complicated, but it’s still possible: the proof is in the specific treatments that have been developed for Gaucher Disease, for example. And there are also other rare diseases. And, in France, we are at the forefront in the field of rare diseases. This is not always true so it’s worth talking about it when it’s the case. We have been on the third national “rare diseases” plan since 2005, and France was the first country in Europe to put this in place, to create the reference centers that we talked about earlier, to promote research and patients access to the latest advances, and to reduce wandering diagnosis to less than a year. We’re not there yet, but it’s improving. So why are we struggling like that for something that is rare? Well, first of all, because even if it only touched two or three people, that’s the right thing to do, not to leave people on the sidewalk and say “it’s rare, get out.” And also, because OK, rare diseases, sure, they’re rare, but not really. I mean: rare diseases each affect few people, but there are 6,000 to 8,000 rare diseases in total; this represents three million people in France, or one in 20 people, half of whom are children. And that’s more than 350 million people in the world. All of a sudden, these diseases are not so rare. It means that you probably know people who have a rare disease, or even that you have one, maybe without knowing it. So, maybe you or someone close to you is trying to understand. So, I will not leave you without one or two practical tips. What can we do to try not to be lost in a wandering diagnosis? Don’t give up. If you need to know, do not hesitate to tell your doctor. That way, they can direct you to the most appropriate specialist for the type of symptoms you have, if needed. You will surely see several specialists. Ask them questions, tell them about your issues … Tell yourself that while you are not their only patient, we are talking about your health. So, don’t give up. Do not accept being told that “it’s in your head.” Even if it were the case, if you are suffering, you need to be cured, and to be cured, you have to find what you have. So, whether it’s in your head or elsewhere, you need to find out. So, take a look. Don’t stay alone. Talk about it, look for people who had a similar experience to yours. Be in contact with associations, if needed some of them have forums or even individual platforms where you can ask your questions. Here again, I have included links in the video description. There, we’re finished for today. We’ll be back soon with new videos. Until then, take care of yourself and take care of others!

21 Comments

  • Obvious Warrior says:

    En symptômes j'ait des oreilles de lapins.
    Non mais sa va c'est juste un rhume c'est courant pas besoin d'allez chez le médecin.

  • Florine Duchemin says:

    Perso je suis en errance médicale depuis 4 ans. Et je lâche, là…

  • Kill Karyan says:

    Bonjour, est ce qu'en faisant analyser son génome on peut savoir l'on a des malades rares?

  • Delphine De la rose says:

    J'ai connu quelqu'un qui a eu une errance de diagnostic de 5 ans sur des douleurs, le diagnostic était un cancer… Malheureusement, c'était trop tard pour elle…

  • clint eatswood says:

    salut tu peut faire une vidéos sur l’arthrite inflammatoire stp car j’ai le genoux qui gonfle est on sais pas pour quoi? la biotherapie tu en penses quoi?merci

  • Seynox says:

    Les sons ajoutés au montage sont vaachement forts

  • HashiBzh says:

    En maladie rare, j'ai une amie qui est atteinte de "béance tubaire", si jamais ça peut faire un sujet, surtout que je viens tout juste de le savoir ><

  • Luana Tettamanti says:

    Ça serait génial si tu pouvais faire une vidéo sur « l’hypocondrie ».. ça fait tellement longtemps que j’en « souffre » si je peux dire ça comme ça 😭

  • bibitranse says:

    Aujourd'hui j'ai choppé une violente gastro-enthérite. J'ai pas eu le temps d'arriver aux chiottes que j'ai compris en 20 secondes.
    Mais du coup c'est pas rare.

    Bon courage ceux qui attendent si longtemps pour leur maladie.

  • BySamFX says:

    une video sur Osgood Shlater ou L'autisme Asperger ?

  • LouetMed says:

    Super tes vidéos, mais tu pourrais en faire une sur la fibromyalgie stp ? Trop peu de personnes connaissent et c'est tjrs galère à expliquer, c'est complexe comme truc…

  • Meg Sunshine says:

    Ça me rappel mon enfance quand on courrait à droite à gauche pour savoir ce que j’avais réellement !! Et le dermatologue qui réponds je sais ce qu’elle a ! Une dermatite atopique et vous savez 1 personne sur 120 000 qui l’a ..
    j’étais contente de savoir 🥰🥰 mais perso aucun traitement juste une crème pour aider mais c’est tout (a l’époque)

  • Mirailokio says:

    1 personne sur 100 000 moi aussi je fais partie du club maladie rare xD

  • Aka Kira says:

    Atteinte de la maladie rare IRIDA, carence martiale en fer, 1 cas sur 1 million, j'ai été diagnostiquée à 25 ans. Une fatigue constante, des traitements de fer qui ne fonctionnent pas, il a fallu que je vois un spécialiste qui a enfin pu me donner un traitement adapté. Injection de fer tous les 2-3 mois à vie mais qui apportent un nouveau souffle.

  • Takashi Biru says:

    des coups bleues qui apparaissent sur les jambes? des gonflement du ventre? dois je en conclure que la plupart des femmes sont atteintes de la maladie de gaucher?

  • Matéo Schlitz says:

    J'ai une maladie rare inconnue qu'on cherche depuis 17 ans yes….

  • Malevodjia says:

    Merci pour cette vidéo.

    Ayant une maladie génétique orpheline qui à mis 8 ans d'errance diagnostique et encore j'ai eu un coup de bol de tomber sur le médecin qui m'à diagnostiqué vu que j'étais envoyer en pédopsychiatrie à l'époque (donc oui le c'est dans votre tête, j'ai bien subis le truc); votre vidéo fait écho à mon vécu.

    Ça fais du bien même quand on sait que les gens autour se représente un peu notre parcours.

  • Lucy Desmonse says:

    #teamverneuil

  • Charlotte Raffin says:

    Tu pourrais inviter quelqu'un qui a un TDA pour qu'il en parle ? Comment il vit dans sa vie de tous les jours, comment il a découvert ça …

  • mat0vm says:

    Ca fait 14 ans qu'on sait que j'ai un problème de cœur, j'ai était voir tellement de spécialistes qui disent tous "Ha ouais, il y à un truc qui va pas. Mais on sait pas ce que c'est." que j'ai fini par juste jeter l'éponge, et quand je mourrais de ma maladie, ben au moins j'aurais mon nom sur un truc. J'ai toujours vécu avec alors au final…

  • Daser says:

    Je me sens tellement touché par cette vidéo.

    Je vis depuis genre 8 ans avec une cicatrice qui ne cicatrise pas.
    J'ai vu des tonnes de médecin, utilisé moult et moult crème, fait des opérations etc, etc…
    Et c'est toujours la même chose:
    "il n'y a pas de solution"
    "prenez en soin ça va guérir" "
    "vous faite exprès de vous gratter sur la cicatrice !!"

    Bref, j'ai fini par en avoir marre de passer mon temps à faire des tonnes et des tonnes de professionnel, d'être pris pour un idiot, qu'on me donne des tords dont je ne suis pas fautif.
    Même mon médecin traitant m'a dit ouvertement "je ne sais plus quoi faire pour vous, je ne peux pas vous aider"

    À un moment la fatigue prend juste le dessus.

  • Ramsou 06 says:

    5:03 j'ai cru que t'allais lâcher "c'est terrance et Philippe" 😭🤣🤣

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