Witness. With Ehlers-Danlos syndrome, a rare disease, she recounts her 22 years of medical wandering

Ehlers-Danlos syndrome is a rare genetic disease with disparate and painful symptoms, affecting connective tissue.Unknown to doctors, it takes 20 years, on average, to diagnose it.This is the case of Cindy which created a local antenna of the association Sed'In France in Colmar.

"I have always had health problems since I was 6 years old. I suffered from dislocations, digestive disorders without apparent reasons. Doctors did not understand what was going on," said Cindy, a 32 -year -old Colmarian assigned by syndshipof Ehlers-Danlos, or SED, a rare genetic disease.

This protean disease goes easily under the radars of doctors as the symptoms, taken in isolation, may seem banal."When they are associated, you have to ask questions. This is what makes patients unhappiness," said doctor Daniel Grosin, president of the Gersed (study and research group of Ehlers-Danlos syndrome), aAssociation created in 2015 bringing together caregivers.

Disappointed clinical manifestations

According to people, and to various degrees, clinical signs are extremely varied: fatigue, hypermobility (extreme flexibility of joints), dislocations, thin and fragile skin, muscle, joint and abdominal pain, migraines, proprioceptive disorders, etc.

The common origin of all these dysfunctions comes from a hereditary alteration of the connective tissue, tissue forming the frame of all the organs.The whole body is affected."This is a systemic disease," said the doctor.

"The most frequent rare diseases"

The number of people affected by this disease is assessed, according to official data, at around 10,000.A largely underestimated number, closer to 500,000 according to the doctor for whom "this disease is the most frequent of rare diseases".On average, a trained doctor detects five patients in his patients.Figure to which people of the same family must be added since the disease is transmissible.

Some patients more or less accommodate them, others are truly disabled.

A fad, again, for some specialists

For Cindy, misfortune is twofold: a disease that makes a medical profession that ignore its real suffering over time.Without being taught at university, the SED, yet identified for more than a century, is largely unknown by doctors.It takes an average of 20 years to diagnose it.When it is not ignored, even refused, it is often confused with other pathologies: fibromyalgia, arthritis, Lyme disease, endometriosis, etc."There are even even specialists in France to say that it does not exist, that it is a fad," is carrying Daniel Grosin.Cindy will have waited for 22 years the diagnosis, "22 years of medical wandering," she said.

Patients often left to themselves

Before being able to put a word on what she feels, Cindy had to compose, "do with".Until the day when her body ended up letting go: "It was in March 2016, I was 27 years old, I couldn't walk anymore, I did not understand what I had. I was immobilized on my bed duringSix months, while waiting for us to prescribe a wheelchair. My husband helped me, he brought me something to make my toilet in bed, I had a chair pierced nearby ".After her studies, a few years earlier, it is now her work that she is forced to stop.

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The case of Cindy leaves her attending physician and his physiotherapist perplexed: "They did not find it normal that I could no longer walk. Radios and other medical imaging showed nothing visible".No mechanical or physiological cause seems to explain its condition.Imaginary sick, Cindy?The verdict of the caregivers would suggest: for them the dysfunctions are psychological."We strive to tell me that it is in my head that it was happening. I arrived at the stadium where I said to myself, 'If I manage to cause me symptoms at this point that-What I will still cause others'? ".

However, if he sometimes doubts herself, Cindy has trouble believing that this is the problem."I had important dystonia, painful contractions and sudden involuntary movements".Before her immobilization, she remembers for example, that day when her arm left "all alone:" I was at the restaurant with a friend, and unwittingly, I launched my sandwich through the room ".Cindy also suffers from proprioceptive disorders, with balance disorders, dizziness and legs that drop out of no reason."I realized that I had always had it but there they really worsened."

Uncomfortable doctors

As the President of the Gersed reminds us, these patients suffer from a systemic disease: "They will be bad three months in the right knee, then at the left elbow, then migraines, then palpitations or even discomfort. These affected peopleBy the SED make "C ...." The doctors who give them treatments that do not relieve them. They always suffer from something ".Patients put in difficulty doctors who end up sending them back to a psychiatrist.

The psychiatric track, to which Cindy was led by her doctor, is set to three sessions.The psychiatrist sees nothing that justifies to continue on this path.On the other hand, he is the first to advise him to go see a doctor."I’ve never offered it so far,” Cindy is still surprised.

A saving trigger

His life then lights up for a new day."As soon as she saw me, the doctor rehabilitator started by taking my fingers and moving them. Then she tested my laxity on my whole body. After a questionnaire, she concluded that I suffered fromEhlers-Danlos syndrome. It was the first time that I heard about this disease. "Cindy understands, with some explanations from the re -educator doctor, that everything that does not go to her is due to this disease.His head is fine.

So he had to wait 22 years before falling on the right doctor.The average time to obtain a diagnosis of the SED in France.Cindy is 28 years old and measures lost time."If I had been diagnosed earlier, I wouldn't be there."

Because if the disease is incurable, there are on the other hand treatments and care that relieves patients.Compressive clothes, lumbar belts, cover bodily sensations and better motor skills.Oxygen therapy acts on fatigue, migraines and pain, physiotherapy on proprioception.

After the double penalty, the triple injustice

But before they can benefit from all these care, patients still have to undergo what, and denounces, doctor Daniel Grosin, a triple injustice.After medical wandering opens for diagnosed SED the Kafkaiian course of the French administrative maze.

First injustice: health insurance funds require patients a diagnosis issued by the Parisian reference center or by one of the twelve centers of competence scattered in the region.A sine qua non condition to obtain management."Me, doctor of the Gersed, or a attending physician if he perfectly fills the pNDS grid (national diagnostic and care protocols), cannot validate the diagnosis with the boxes while I have known the SED for 9 years and that IPractical every day, "says Daniel Grosin.

Second injustice: the waiting period goes from ten months to two years, or even three.Reference centers are indeed engorged by the influx of appointments.Garches, the Parisian adult center, has a two -year waiting period."They are forced to filter the appointments so that there are not too many," said the doctor.

Third injustice: treatments have been prohibited because they have not been the subject of a double blind study when this is not necessary for rare diseases."These drugs are known and followed by the doctors of the Gersed. We have experience on thousands and even tens of thousands of patients. Reference centers only rely on texts," points out the presidentof Gersed.

An absurd system

For him, the observation is clear: the system is absurd, it is necessary to review the organization from top to bottom."This is why we exist: to develop the Oscar (OS-Cartilage) sector which governs these rare diseases, the SED belonging to this sector".

Cindy obtained its certified diagnosis at the Parisian reference center in 2018, after ten months of waiting.In the process, she completely changes her medical team.Her new attending physician, trained in the SED, takes it seriously.He directs it towards adequate treatments.Specialists advise her and prescribe compressive clothes, a lumbar belt, oxygen."With my physiotherapist, twice a week, I make sure I don't lose more muscles. I have never had a lot but after months in bed and in a wheelchair, I have lost a lot andI will not be able to recover them ".Cindy will probably not find the ability to stand or walk, so the next administrative stage will be to build a disability file.

Her husband helps her in everyday tasks.They decided by mutual agreement not to have children."Technically, I could, there is no problem, it is just that the SED is transmissible. The child does not necessarily develop it but he necessarily carries the embarrassment".

Inform, raise awareness

To get out of isolation and deepen his knowledge of pathology, Cindy joins the Sed’In France association.There she says she found the documentation necessary to help her understand her illness."The whole body is affected, except the brain," she likes to say, like a nose to doctors who refer their patients to psychiatrists.Last June, to create more proximity to Alsatian members, she launched a local antenna in Colmar."We organize a few playful outings between members, a Facebook speaking group allows patients and patient spouses to communicate with each other."The local antenna can also be contacted by email at the following address: sodinfrance.centrealsace@gmail.com

For the moment this represents fifteen households at Alsace level, less than ten at the local antenna.This is only the beginning, but Cindy is hopeful that the awareness message goes better and better, both in the medical profession and in often under-informed patients.