When we are expecting a child, we worry, we think of illness, disability, to accidental death sometimes. And if I had fears, I never thought about this syndrome, because I obviously did not know it. That my first daughter, my beautiful little Ornella who is 13 years old today, could suffer from an incurable disease was not audible. The disease has done its work. One day, when she was 4 years old, we found that she had surreptitiously and completely lost her speech. His last sentence was a question to Gad, his father. This sentence was: “Mum is there?” “. He was still living with us at the time.
When I was pregnant with Ornella, I didn’t feel so pampered or particularly pampered. I even had a few major shocks, when the ultrasound, for example, revealed a slightly thick neck, then the diagnosis of Down’s syndrome was ruled out. Phew, I probably thought, when a much worse disease was already devouring my child. Today, I see as a sign this lack of lightness and this absence of real joy during my pregnancy. I felt a feeling of distance with the mothers who read the books on babies and decorate the little rooms in euphoria… I still remember a moment of shopping with my mother and buying beige linen curtains strewn with bees.
Karen’s fight inspired a TV movie, “Tu vivras ma fille,” which aired on TF1 in September 2018.
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Shortly after, I gave birth. And then, quite quickly, in front of this baby who cried a lot, who definitely did not make his nights, Gad and I were concerned. We went to the hospital. Ornella suffered from a “liver overflow”. To monitor. Quickly, it was necessary to make additional examinations which led to the verdict. Ornella suffers from an “overload disease”, Sanfilippo’s disease. After describing what to expect, the doctor spoke of his life expectancy of twelve to thirteen years, and the total lack of treatment. After the shock that literally wiped us out, we didn’t really ask ourselves what attitude to have, we did.
With all the will in the world, we decided to find the cure to save our daughter. Socially, I chose. Life next to “that” no longer existed. I have made connections exclusively with people who can help me understand rare diseases. I got closer to a first medical team, then to an Australian scientific team… We rolled up our sleeves. Month after month, year after year, we found public and private actors who could help us. They were kind enough to explain to me how to develop a drug, but no one wanted to get into this Sanfilippo disease treatment program. It must be said that it is an often underdiagnosed disease, that there are 3 to 000 cases in the Western world. In 4, when my daughter was one year old, I created an association, the Sanfilippo Alliance, to bring the voice of families of children affected by this disease. It is in this way, surrounded and surrounded, that I was able to dare to set up my program, to trace my route towards THE treatment. And then I got pregnant with Salomé, our second daughter that we wanted so much. I can say that her birth was the greatest moment of happiness since the announcement of Ornella’s disease. While I was still in the maternity ward, my husband told me that € 000 had fallen into the association’s treasury. Our efforts to find funds were finally paying off! But while we were chasing a solution, Ornella was declining.
In collaboration with a doctor, I was able, at the beginning of 2007, to set up the gene therapy project, design our program, undertake the necessary preclinical studies. It took two years of work. On the scale of Ornella’s life, it seems long, but we were rather super fast.
As we flirted with the mirage of the first clinical trials, Ornella declined again. This is what is terrible in our fight: the positive impulses they give us are annihilated by the pain, this permanent base of sadness that we feel in Ornella. We saw the promising results in mice and decided to create SanfilippoTherapeutics which became Lysogene. Lysogene is my energy, my fight. Fortunately, my studies and the experience acquired during my first professional life taught me to throw myself into a vacuum and work on complex subjects, because this field was unknown to me. Yet we have brought down mountains: raise funds, hire teams, surround yourself with great people and meet the first shareholders. Because yes, Lysogene is a unique collection of outstanding talents who, all together, have achieved the feat of being able to start the first clinical trials exactly six years after the announcement of my daughter’s disease. In the meantime, everything was also moving around us on a personal level: often we moved, changed the domestic organization whenever it was necessary to change things to improve the well-being of Ornella or her little sister. Salome. I come up against injustices, and Salomé follows. Salome takes it and endures it. I am very proud of her. She understands, of course, but what an injustice for her to surely have the feeling of going after. I know that and I try to balance as much as possible, and to give us as much time as possible for both of us, a time when my younger sister can see how much I love all of her too. Ornella’s cohort of problems surrounds us like a fog, but we know how to hold hands together.
The first clinical trial, in 2011, allowed the administration of the developed product. The work carried out and its successes are landmark because many have understood that they could be useful for other diseases of the central nervous system. Research is transferable. This factor is of interest to investors … Our goal is to be able to slow down the disease. The experimental treatment of 2011 already made it possible to soothe and curb hyperactivity and sleep disorders which sometimes prevent children from sleeping for several days in a row. Our new, more powerful treatment should do a lot better. Ornella had her chance, and I have to watch her crumble. But her smiles, her intense gaze support me, as we launch our second clinical trial, in Europe and the USA; and continue our work with the hope of positively transforming the lives of other little patients, those born like Ornella with this disease.
Certainly, I have sometimes been misunderstood, black ball, mistreated even, in medical meetings; or ignored by apartment rental companies who do not accept the necessary arrangements for the well-being of my daughter. This is how. I am a fighter. What I know, for sure, is that we all have the capacity, whatever our dream, to fight the right fights.