I want to be proud of myself; I want my life to be worth living; I want to talk to you of my disease. I have been living with it every day for the last 17 years and a half…” Sylvain knows very well what he is talking about. He wants to be answered truthfully, with the respect due to his dignity as a man but also with the compassion his state requires.

Professor Marie-Odile RETHORE
Member of the French National academy of medicine
Medical director of the Jérôme Lejeune Institute

“I want to be proud of myself; I want my life to be worth living; I want to talk to you of my disease. I have been living with it every day for the last 17 years and a half…” Sylvain knows very well what he is talking about. He wants to be answered truthfully, with the respect due to his dignity as a man but also with the compassion his state requires.

There are questions to which no words can give a satisfactory answer like, for example: “Why me? Why not someone else?” It is always possible to show someone you have understood the question, that it is justified as is the rebellion and help them understand that performance, success, beauty are not the most important in life. The importance is elsewhere…. It can be expressed with a smile, leaving out all self-complacency or condescendence. It is what enables us to see the others without negating what they really are, or imagining what they should be or do so that we may feel better, content our ego. It is the way we look at people that helps us see them as they really are, acknowledging they are as valuable as we are simply because they are men, disabled or not, rowing down the stream of life.

People who say to parents « At least, when you grow old, he will stay with you», see it as a good thing. But that is not the question! From a very early age you must love him sufficiently so that he may get on with his life, so that he may be happy even when you, parents, are not around. I imagine how difficult it must be for some of you…You know him so well, appreciate all his secrets and habits. As the years go by, you probably start to think about the future of your child who is not like the others and share your thoughts with other parents or secretly imagine what things will be like. Thanks to the progress of medicine, not only will he get to be an adult but he may even grow old. It is our duty as researchers, doctors, educators, to do everything we can so that he may be healthy throughout his whole life. And it your duty as parents to gradually take the measures adapted to his age so that one day, when the time comes, he may fly with his own wings. The day will come, when you will no longer be able to help him because your health is too bad or simply because you are gone…. The Jérôme Lejeune Foundation as edited a small book called the “LIVRET DE VIE (book of life)” which will assist you in preparing the “after you”. It is for writing, every day and as a family, everything you know about your child: what he likes, his habits, what helps him to overcome his fears, what makes him happy but also understanding his demands, fears, and sufferings. All this should be decorated with photographs reminding of the happy days he spent with all those he loved and loves and all the addresses which will enable him to contact the various members of his family and friends.  There is, of course, room for all the details about his disease, his surgical interventions, his hospitalizations but also administrative links, heritage, religion. There is also a sealed envelope and blank pages to put more personal details or even a secret you haven’t revealed yet. The “LIVRET DE VIE” is in its fourth edition. If you do not have it yet, you can ask for it at the Jérome Lejeune Foundation.

We, professionals, have chosen to remain by you and your children to answer any question you have had since you discovered the disability. Our first duty is to be competent which includes permanent questioning of our knowledge and regular contact with all the people working in this field. One cannot know or do everything on one’s own… Things cannot be sorted out, in depth, in just one meeting. In fact, it seems to me, it’s more like an alliance in which each party has rights and duties and that must be carried out with trust, over time.

One of the questions you, parents, and, later, other members of the family using different words, ask us, professionals, during the first meetings is “Why? Why him? Can it happen again? Do I, particularly, risk having another child with the same disability?”  You are right to ask and it is our duty to work tirelessly with you at finding the biological causes and mechanisms responsible for the disability. This includes redoing tests you have already done and which didn’t give out any information because the techniques were not fully developed then. New investigations are now at our disposal and are in the process of evaluation.  Do not be afraid, be bold enough to have recourse to them because it is only once the cause is found that we can give families genetic counselling, i.e., the risk incurred for their children. Until the mechanisms responsible for the disease have been established, we cannot assert anything and our duty is to say that we do not know.

The information given by the diagnosis enables us to see the child in a familiar framework and to suggest specific care. This is a good thing, so long as one never forgets that each child is, first of all, a person and like every biological being is unique and cannot be reduced to a diagnosis. As every one of us, a disabled person has a unique way of manifesting his pathology and reacting to the treatments suggested.

There must be a regular update of the child’s state in all psychological and organic fields but also of his implication on a family, social and economic level. This permanent questioning is the only way to enable appropriate care and the prevention of any complications. While making decisions about his future, to take into account all the positive aspects of his personality would, no doubt, prevent a great number of adolescent crises which are sometimes dramatic and always difficult to handle.  Regular dialogue with psychologists and educators enables you, parents, but also all those living with him or who see him on a regular basis to make known to others various aspects of his character. Indeed, some facets of his personality only come out in certain circumstances and could, therefore, not have been noticed. Thus, dreams, gifts, aptitudes, desires some professionals hadn’t even thought of can be brought out and be determining information in regards to his professional orientation or in organizing his future life:

Quite often, the whole family comes to the consultation and I would like to be able to talk to each person individually as I know they all have very different demands. When I feel a particular suffering, a particularly urgent cry for help coming from one of them I don’t hesitate in doing what is needed to talk to the person alone. Maybe the discussion doesn’t seem long enough in their opinion but I always leave a phone number so that the discussion may be carried on if needed. Of course, I am bound to secrecy towards the other members of the family. It is always possible to adapt the way of doing things in order to keep the secret. That is when you understands the necessity of having around a full network of people, competent in all the different fields, you know you can count on.

Your attitude, brothers and sisters, often shows great love for this elder brother or sister or this little one so clumsy as he moves around and tries to speak but so full of life. I understand and share your dismay in regards to the disease of this little brother you were waiting for with such impatient. In your looks, I quite often perceive interrogations you don’t dare to express in front of your parents. I also, sometimes, feel the embarrassment probably coming from shyness, but, maybe also from the shame, rebellion or even hostility felt towards the one who takes away the whole of the family’s attention and who is too great a burden to carry. Some of you, with guilt, even admit being jealous and being ready to do anything it takes so that, at last, you get a bit of attention! I understand those who can’t stand being in a home where the only thing that counts is that disabled brother or sister, who have had enough of their holidays being ruined, those who are afraid of bumping into a friend who “doesn’t know”, those who are tired of seeing all their stuff broken or torn to pieces, those who start answering back because they are always the ones getting told off for everything: “you know better, you should have…” When you are overwhelmed by such feelings, do not see yourselves as monsters. Even though you have a kind heart, it is often complicated to love one another, on a daily basis, in all the little details of life. Never forget, the person who is really hurt in this family you never asked to be a part of, is not you or your parents but that brother or sister who is often so heavy to carry. You are not responsible for him while your parents are still present and have not asked you to look after him. In the end, they are really only asking for one thing: agree to let him share times of happiness with you. They don’t have to be long, just make them worthwhile. In those privileged moments where you are close to him, there appears in his look an immense joy as you become the source of his admiration. For you, at that moment, anything is possible and you can get nearly anything you want… When you are present, all fears are washed away; the water in the pool, the instable bike, the skis that slide on their own, the first step that seems so difficult. You know how to laugh at a failure without sounding unkind or dramatic. You know how to find the right words so that your sister is careful about how much she eats and encourage her to make herself look pretty, to smile at people. You will accept to fight with an eager brother without cheating but showing him how to control his strength. “Parents are always afraid and have a tendency to be overprotective! They are always seeing him as a baby!“ These are the thoughts you have often had. It is probably true but you have the best position to help your parents jump the line. Why not open up and get your friends to come round. They won’t be scared to suggest new things such as outings you couldn’t have organized on your own. But, most important of all, don’t be ashamed of your intelligence, of your success, of going off on holidays with your friends, of preparing for you future. You are not betraying your brother or sister by doing so. On the contrary, a day will come when, he too, will be leaving home. It is best if he is not the last one to do so. Seeing his brother or sister leave with a person presented as a “new brother or sister” can be difficult for him. You being there when he moves into his new residence will dedramatize the situation and help him understand it is as necessary for him as is it was for you, even though so heart breaking for both parents.

Grandparents are often present during the consultations, listening to everything that is being said. They, also, have a whole lot of questions but don’t dare to ask. Some of them call me in the evening, under secrecy and admit being afraid of being indiscrete, cumbersome.  This, sometime, makes them seem indifferent although they feel great tenderness for the little one, admiration without limits towards the parents and a great desire to help. Others, on the contrary, are ready to take care of everything, to impose themselves even for important decisions. To them, I ask to stay in their place and go along with their children’s decisions even when they go against their ideas.

Granny and grandpa can often do a lot because of their free time but also because of their life experience. Why not hand over the cherished one from time to time or even for a bit longer. Of course, you need to make sure their health is good enough and take the necessary precautions. This enables parents to spend time together without the permanent charge of the child they love immensely but who has to be watched over constantly, like water on the stove. I could also enable them to go on holiday with the other children without being worried about the particular risks that come with disabilities and give them time to be more present for one of their other children in distress. Apart from being the people who help you out in case of emergency, grandparents can become those to confide in for a member of the family who doesn’t know who else to go to and who feels trapped between the parents’ suffering and a little brother who is constantly taking away the families attention. There is no better moment than during a walk with grandpa or tea with granny to come out with what is on one’s heart. Do not be afraid, grandparents to say, gently, so as not to hurt anyone’s feelings, that you would be glad to share some good time with your grandchild. Even if he is disabled, don’t forget to ask him to help you in simple tasks if necessary. By doing this you will show him he is not the only disabled one…. The roles will be reversed and Sylvain will be as proud as he asked to be.