"Not knowing was the worst thing"
5 years, the number of years that it took to give a name to Margot’s disease. “From the birth of my daughter, I noticed the first signs of difficulty. She had no sucking reflex, always kept her eyes open, didn’t cry, explains Laurence, Margot’s mother. Then over months, years, Margot’s health deteriorated with no explanation for why.”
For 5 years, Margot and her mother went round the hospital services with no-one ever being able to name the disease. “Not knowing was the worst thing, recalls Laurence. I faced periods of doubt, even discouragement.”
On average, the time between the first symptoms of a rare disease and the diagnosis is 18 months, but sometimes diagnostic uncertainty, as the name suggests, can take years. The reason: rare diseases, 8,000 of them, affect fewer than one in 2,000 and 80% of them have a genetic origin. For this reason, they are not well known by doctors, even totally unknown for some.
Put an end to diagnostic uncertainty
When the medical profession has a single response, “we do not know what your child is suffering from”, many families end up doubting and giving up. “I felt like no-one was taking me seriously, not the medical profession or my family and friends. I no longer had a life and I was constantly waiting” recalls Laurence. One day, she decided to send her record to Imagine Institute. “The specialists then discovered a malformation in the lower part of the brain, which explained many of Margot’s symptoms. They then launched new genetic research. Finally, a door was half opened”, she remembers.
From the moment that children arrive at Imagine, everything is done to “name” the disease, meaning to find the gene responsible, as it is the only way to then be able to find treatments: another challenge because today 90% of these genetic diseases have no treatment: these are orphan diseases.
When we arrived at Imagine Institute, what changed is that they listened to us. We found ourselves in front of doctors who understood the situation (...) and people who were genuinely interested in our case
Maureen is the mother of 5 year-old Lila, who has a rare autoinflammatory disease with fevers that can reach 42° and severe pain.
The diagnosis is complex because the gene responsible for the disease can be different from one disease to the other and even within the same pathology: if we look at severe epilepsy, for example, there are more than a hundred genes that could be at the origin of the disease. With regard to autism, there are several hundred genes that have to be analyzed. In addition, genetic diseases are most often polygenic. Multifactorial, with complex inheritance, these genetic anomalies are expressed in many different ways depending on the individual.
It is a bit like looking for a needle in a haystack. Sometimes, there is no mutation in the genes that are already known to play a role in the pathology and it is necessary to look beyond them, in the 22,000 other genes. This broader analysis of all the other genes can take a very long time. Finding the genetic origin of the disease is possible at Imagine because the research labs are directly associated with the healthcare.
When the name of the disease finally comes...
For Margot, we had to wait for 2 years. But Laurence will never forget April 17, 2018, the day that Prof. Arnold Munnich called her to tell her: “we found it”. The illness finally had a name and Margot and her mother knew what they were fighting. Once the diagnosis is made, families feel less alone and hope is renewed. It is also the first step towards looking for therapeutic solutions: from the moment that the deregulated mechanisms are known, we can try to find molecules to restore them.
Margot has an extremely rare genetic disease. In 2018, she was a priori the only person with a mutation of the EBF3 gene, which is the name of the gene at the origin of her disease. We know now that there is another child affected in France and a few dozen in the USA. Since the diagnosis, I have started to live again. Diagnosing a disease is identifying your enemy and allowing researches to hopefully find a cure one day. The whole of my family’s life was determined by the diagnosis
Imagine, an open door to hope for families
Filled with doubt and often feeling discouraged, at Imagine families find a place where doctors and researchers will do everything possible to give a name to the disease that their child suffers from, and the hope of these families is renewed. “However, to this day, 50% of families still leave without a diagnosis, grieves Prof. Stanislas Lyonnet, director of Imagine. Huge progress has already been made since Imagine Institute was opened. We have doubled diagnostic capabilities, but we are still far away from the target. Imagine has set the goal to diagnose 80% of families in the coming years.”
Yet, as Dimitri, Lila’s father, emphasizes “today, what we hope for, is to be able to better diagnose the disease to then launch the 2nd stage in the search for treatment”. This stage is vital to paving the way for research of therapeutic solutions. As the ultimate goal is to offer treatments to children with genetic diseases, whether they are new innovative therapies or repositioning molecules used for other diseases.
Imagine’s ambition: change the lives of families affected by genetic diseases
Since its founding, Imagine has proved its unique abilities to accelerate innovation both in terms of diagnosis and treatment. The synergy created from having doctors’ and researchers’ expertise and skills in one place inspires our teams to never give up, to seek promising collaborations, and to innovate without stopping to conquer genetic diseases.
Today, Imagine has all the means to change the situation in the years to come and has set the goal to diagnose 80% of children with genetic diseases, but also to give 30% of them access to a treatment.