Frequently Asked Questions
This Frequently Asked Questions is intended to answer the most recurring questions asked about the syndrome.
These answers do not seek to have scientific or medical rigor, even if they can be based on data of this type. And in particular, the microdeletion guide 17q21.31 from the English association Unique (translation made by the association Valentin APAC).
Each person is unique and therefore certain answers must be adapted to the child or the adult carrier of the disease.
This Frequently Asked Questions is constantly evolving so do not hesitate to contact us (CONTACT Section).
What is the life expectancy of a person with this syndrome?
Koolen De Vries syndrome is not degenerative. There is not enough hindsight today to deduce a life expectancy. But there is no reason to believe that life expectancy is reduced. The oldest person diagnosed to date was born in 1965 in Spain. As a reminder, the diagnosis has only been possible since 2006, and older people are certainly undiagnosed.
Can we cure this syndrome?
There is currently no treatment to cure this syndrome. However, some associated symptoms can be treated.
Physically, what will my child look like?
Your child will not look like you, neither you, nor his brothers and sisters except in the expressions, the attitudes, the postures. His face will show some minor dysmorphic elements such as a rounded forehead, hypertelorism (eyes wide apart), the tip of the nose wide, the upper lip thin, the ears set a little low. He will certainly be of fine frame, slim figure and therefore featherweight. It may not be very tall compared to the sizes spotted in children today. He is most likely to have blue eyes and blond hair.
On the other hand, he will look a lot like the other Koolen de Vries children, some give the impression of being twins or even cloned.
Kool kids at 3
How many people affected in France? In the world ?
There is no exact data on the number of people affected in France or in the world.
The incidence of people affected by the deletion is 1/55000 births. On the other hand, it is impossible to quantify the number of births in the case of the mutation.
When was this syndrome discovered?
The symptoms have been listed for several years by geneticists, but scientific developments have only allowed a diagnosis to be established since 2006. For more details, see the Syndrome page under History of the syndrome.
What future for my child?
This is one of the first questions asked but it remains rather vague. You will find concrete answers in the different items depending on the subject: motor, language, autonomy ... However, the vast majority of children can walk, express themselves, acquire autonomy in eating and in certain daily tasks or activities. like the dressing. On the other hand, it is difficult to envisage, in the long term, total autonomy with own housing and employment in the ordinary environment. However, we know that some Kools kids, who have become adults, have been able to work in an ordinary environment (especially in France) or to marry and become parents in turn (in the United Kingdom or in the USA).
What difficulties will my child encounter?
First, our children are of a rather cheerful character and are generally in good health. Second, even though they look the same physically, they don't necessarily have the same symptoms. It is therefore difficult to describe the difficulties that your child will encounter. The thing is certain, it is that we will have to be alert on probable epileptic seizures and consult several specialists (ophalmologist, ENT specialist, orthoptist, cardiologist ...), check certain organs (liver, kidneys). Then, care adapted to your child will be put in place (physiotherapy, speech therapy, psychomotor skills, occupational therapy ...), treatments may be considered (epilepsy) and for some, necessary surgical operations (heart, back, tongue ...).
At the social level, he should flourish like any child but at his own pace and sometimes in an adapted school system (IME, ULIS ...).
Will my child have an intellectual disability?
Yes, people with the syndrome have intellectual disabilities, again with variations. They do not have the same faculties as the so-called valid children in learning. But they are intelligent, sensitive and, for many, have a very developed memory.
Will my child be able to read, write, count?
Many children can read and understand what they read. Many can also write using digital tools, holding a pencil can be difficult due to limited manual dexterity. The mathematical concepts are on the other hand very succinct for the great majority. Learning to read the time and / or count change is also complicated for many.
First day in small
What adult life for my child? Will it be autonomous? Will he be able to work?
It will take longer than for an able-bodied child, but your child will gain autonomy. In the vast majority of cases, he will walk, dress and eat on his own, can help you empty the dishwasher or tidy up his room. As an adult, he will probably not be able to be independent in his travels, to have his own accommodation or to work in an ordinary environment. Even if a few people can, it is on the margins. The majority of people with Koolen De Vries syndrome have no concept of danger or time, which does not allow them to live independently.
Here again, we have little perspective, but the vast majority of adults recognized as Koolen De Vries and known to us in France are young adults. The majority still live with their parents and are half-boarders in a specialized establishment (IMPRO, Foyer de vie or ESAT). Some prepare to live in one of these establishments and do integration internships there. Only one French adult Kool Kid has been spotted to date for having worked in an ordinary environment.
How to tell your siblings about it?
Simply. By explaining the difficulties encountered by a child suffering from the syndrome with vocabulary adapted to the ages of the siblings. By indicating that yes, mom and dad should take a little more time to take care of him but that they are still there for everyone. By letting things happen, by not overprotecting one or the other.
The character of the Koolen De Vries children will do the rest. The vast majority of them are very kind and affectionate, cooperative, in a happy mood; they love to laugh at other people's nonsense and make jokes themselves.
Can my child be a parent?
To date, we only know of a few KDVS people who are in turn parents. We know of 3 young women suffering from the syndrome and becoming mothers in turn, in the United Kingdom and in the United States.
Remember, as with any syndrome: the risk of having a child himself affected by the syndrome is 50% in the case of only one affected parent.
What are the risks of having another child also affected by the syndrome?
To our knowledge, there are two families with two out of two children suffering from the syndrome, both abroad. In these two cases, at least one of the parents is itself the carrier of the deletion. To our knowledge, if the parents are not carriers of the anomaly (an accidental mutation called de novo in their affected child), then the risk of having another Koolen De Vries child is very low.
What financial aid can you get?
The 100% Social Security makes it possible to have all the care related to the syndrome ( and normally partially covered by Social Security) , reimbursed in full.
A request for recognition of disability, education allowances, priority card and parking, Disabled Adult allowance can be made to the Departmental House of Handicapped Persons (MDPH).
Some employers also offer financial aid, working time arrangements, days of availability supported for children with disabilities ...
Some mutuals can also grant you assistance.
Our Kool Kids, evolution
14 years old
18 years old