Inside the primary complete heart for genetic mental disabilities: “The present system doesn’t cowl all wants”

In Spain it’s estimated that there are 35,000 individuals with Trisomy 21 (Down syndrome), though in official data solely 16,500Madrid has opened this week the primary medical heart, Fundación Jérome Lejeune, with a gene financial institution for individuals with genetic mental disabilities”They attend to the sufferers in an integral method, not solely medically, but in addition socially and personally, which is typically an important factor for these individuals”, says Lucía’s mom

Lucía is 17 years previous and has Down Syndrome. She is cheerful, open, and actually needs to do issues. “I need to be an actress, get my driver’s license and have youngsters,” says Lucía. This younger lady will get good grades on the particular faculty she goes to, performs soccer 4 instances per week, and does theater. “It’s that I might like to make a film, I’ve already participated within the work of Mary Poppins.” Although the 17 years are being difficult for her and her household. Her mom, Dominica, fears that Lucía has very excessive expectations and typically she doesn’t know how one can reply or how one can take care of her daughter’s doubts and questions. For this cause, she has begun to return to the Jérome Lejeune Foundation, whose objective is to offer complete and scientifically-based look after individuals with mental disabilities of genetic origin.

This week the doorways of the primary specialised medical institute for the sort of affected person have been opened in Madrid. His problem is to serve 4,000 individuals a yr. In Spain it’s estimated that there are 35,000 individuals with Trisomy 21 (Down syndrome), though solely 16,500 have been reported in official data, to that are added different lesser-known disabilities, of which there are 250 varieties registered, resembling Williams, X-Frágil, Phelan -McDermit, S. Kabuki or Smith Magenis. The Foundation is the main funder in Europe for analysis into mental incapacity of genetic origin.

Dominica, already knew the Jérome Lejeune heart in Paris and her dream was to have the ability to deliver her daughter to this Foundation in Spain, as a result of she is aware of she wants assist. They each want it. “In addition, from the medical facet, an individual with an mental incapacity of genetic origin faces many extra issues. This just isn’t a illness, however it could result in lots of them. Diabetes, leukemia, weight problems, diet and right here they have a look at all the things as an entire. But there’s extra, they have a look at our day-to-day life and assist us face it from inside,” says Dominica.

The well being of a affected person doesn’t solely have an effect on medical points

With Lucia it has at all times been straightforward, she is in good well being and is a candy and good woman. But now, as she grows up, she has to imagine issues that she would not need. I feel she’s going to assist us. Now, the present public system doesn’t cowl all wants, particularly psychological well being, and for her, who’s experiencing moments of disaster, it’s an important factor. What makes me most excited is with the ability to begin with the psychologist, her, and me. It is tough for Lucía to listen to when individuals say that she has Down syndrome, it’s laborious for her to just accept it and this may result in additional problems. I usually do not know how one can act or what to reply,” says Lucía’s mom.

Doctor Pilar García, medical director and pediatrician of the Foundation, agrees with Dominica, who firmly believes on this venture and assures that “the well being of a affected person just isn’t solely affected by medical points, but in addition by the place of business, examine or leisure have a really clear impression on their lives and extra so in key intervals resembling adolescence, so we put together the session taking all these areas into consideration as a result of it’s the solely strategy to look after them”, he explains.

Accessible to everybody

In addition, the inspiration is made up of a household physician and a geriatrician, in addition to different specialties resembling cardiology, neurology, traumatology, endocrinology, ophthalmology, gynecology, radiology, psychiatry, dentistry, otorhinolaryngology and sports activities medication. And the institute could have a therapist, a social employee, a neuropsychologist and a nutritionist to see the affected person comprehensively.

The Institute is completely personal, however its goal is to enter the general public well being system, as has been the case with the middle of Paris since 1997. “Since our assets are restricted, we are attempting to hold out a scholarship program to entry consultations “and on this method assist as many individuals as attainable. The thought is to make it accessible to everybody”, provides Pablo Siegrist, basic director of the Foundation in Spain, which ensures that no affected person shall be ignored. can attain us.


People with trisomy 21 have a decrease prevalence of some stable tumors resembling breast or prostate most cancers, however a better prevalence of some leukemia. “That’s why the analysis is so necessary,” Siegrist explains.

The Foundation, already in 2008, launched a biobank within the heart of Paris, a financial institution of organic samples specialised in mental disabilities of genetic origin. There are already greater than 20,000 samples accessible to the complete scientific group, with household reference samples and naturally nameless. “And that’s what we need to do now in Madrid. A financial institution with genetic samples accessible to all researchers.”

Another of the Foundation’s targets is that docs, well being personnel, households, caregivers and the sufferers themselves have a coaching house through which specialist professionals impart data on necessary points that have an effect on them. The Madrid Institute will replicate the work of the Lejeune Institute in Paris, primarily based on the time devoted to sufferers, complete care all through the affected person’s life (a single medical report ensures the continuity of data on every affected person whatever the skilled who gives them). deal with: pediatrician, household physician or geriatrician) and the connection between medical remark and analysis.