"Research-care-advocacy“; these three missions of the Jérôme Lejeune Institute are led by one common thread: taking into account patients in their entirety. This is essential for the physical, social and mental well-being of all people living with Down syndrome.
Though progress has proved encouraging, medical research still has not been able to provide any treatment able to cure genetic anomalies.
« Progress is expected,” says Doctor Aimé Ravel, paediatrician and head of the consultation service at the Jérôme Lejeune Institute, “but while we are waiting, there are a whole lot of things that can be done to give a better quality of life to the patients and the people around them. It’s not just about medical care” She then asked what the keys to happiness were for every one of us. Feel loved, feel useful; have projects! For many years, the Jérôme Lejeune Institute has been taking into account people living with cognitive disability in their entirety, in order to help them find access to these “keys”.
Prevention and care
“We spend time tracing, treating and preventing the complications that result from the various illnesses or lifestyles.” explains Doctor Clotilde Mircher,” Treatment with growth hormones for people living from Prader Willi Syndrome has enabled to limit obesity and its effects. For different syndromes, different treatments. For example, it is possible to invert the night-day reversal caused by Smith Magenis Syndrome. “The child is thus able to receive a better education, but of course, the treatment is not miraculous” adds Doctor Mircher. For people living from genetic diseases, these complications quite often have a negative impact on the health and well-being of young children and cause generate cognitive regression on adults. These impacts are now taken into account and treated. As a consequence of the various treatments put in place, people living from mental disability or genetic diseases have seen their life expectancy increase these last years.
Caring for patients in their entirety leads to a better place in society
Intellectual disability is often associated to other neuropsychological disorders such as Hypotonia, difficulties in global motor and fine motor skills, late oral expression, etc, which hinder learning abilities, development and social insertion. Making up a personal management programme for each patient, together with all the professional on the field, is therefore fundamental. The Jérôme Lejeune Institute sometimes recommends that the patient should be taken care of prematurely in one or several fields: kinesitherapy, psychology, psychomotricity, speech, etc. “Quite often, mentally handicapped children aren’t very conscious of their body and particularly their mouth." explains Julie de Reinal, speech therapist at the Jérôme Lejeune Institute. “It is therefore important to help them become conscious of these parts of their body through massages, working on their breath and by providing all the necessary means so that they may find ways of communicating without using speech, such as signs or pointing. These means facilitate and arouse communication. Adults in possession of means of communicating have less behavioural problems.” relates the speech therapist.
“Nowadays, they are better treated and have more chance of finding a place in society.“ carries on Doctor Mircher. “Care, treatment, and the prevention of complications are not miraculous when carried out separately, but put together they can have quite a considerable effect.”
Typhaine, 28 years old, was diagnosed with sleep apnea a few months ago. “We felt she was less happy and enthusiastic about her life, work and hobbies.” remembers Marie-Thérèse, her mother. “She needed 15 to 30 minutes more than she usually did to get ready in the morning. Now, she wears a breathing mask at night or when she has a nap. It is a totally different Tiphaine we now have standing in front of us; her usual dynamism and spontaneity are back .”