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 think that life expectancy is reduced. There are people born in the 70s diagnosed around the world. As a reminder, the diagnosis has only been possible since 2006, and older people are certainly undiagnosed.

Can we cure this syndrome?

There is no treatment today to cure this syndrome. However, some associated symptoms can be treated.

 

Physically, what will my child look like?

 

Your child will not be like you or your brothers and sisters except in expressions, attitudes, postures. Its facies will show some minor dysmorphic elements such as a bulging forehead, hypertelorism (eyes apart), the tip of the broad nose, the thin upper lip, the ears implanted a little low. It will certainly be of fine structure, of slim silhouette and therefore of light weight. It may not be very large compared to the sizes seen in children today. He is likely to have blue eyes and blonde 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 are no exact data on the number of people affected in France or worldwide.

Estimates are of 1 in 16,000 births.

 

When was this syndrome discovered?

Symptoms have been listed for several years by geneticists, but scientific developments have only allowed a diagnosis to be made since 2006. For more details, see the Syndrome page, History of the syndrome section.

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 subjects: 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 clean accommodation and employment in the ordinary environment.

 

What difficulties will my child encounter?

First, our children are quite cheerful and are generally in good health. Second, even if they are physically similar, they do not necessarily have the same symptoms. It is therefore difficult to describe the difficulties that your child will encounter. The thing is, it will be necessary to be on alert about probable epileptic seizures and to consult several specialists (ophalmologist, ENT, orthoptist, cardiologist ...), to check certain organs (liver, kidneys). Then, care adapted to your child will be put in place (physiotherapy, speech therapy, psychomotricity, 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 children said to be valid 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 are able to read and understand what they are reading. Many can also write using digital tools, holding a pencil can be difficult given the little manual dexterity. Mathematical concepts are however very succinct for the vast majority. Learning time reading and / or counting money is also complicated for many.

 

First day in small

kindergarten section

What adult life for my child? Will it be autonomous? Will he be able to work?

It will take longer than for a valid child but your child will acquire autonomy. In the vast majority of cases, he will walk, get dressed and eat alone, 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, have his own accommodation or work in an ordinary environment. Even if some people are capable of it, it is on the fringes. The majority of people affected by Koolen De Vries syndrome have no idea of danger, of time, which does not allow them to live independently.

Again, we have little perspective but the vast majority of adults recognized 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 are preparing to live in one of these establishments and are doing integration internships there.

 

How to tell your siblings about it?

Quite simply. By explaining the difficulties that the child with the syndrome encounters with vocabulary adapted to the ages of the siblings. By indicating that yes, dad and mom must take a little more time to take care of him but that they are always there for all. By letting things happen, by not overprotecting one or the other.

The character of the Koolen De Vries children will do the rest. They are for the most part very kind and affectionate, cooperative, in a cheerful 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 young woman suffering from the syndrome and who in turn became a mother in England.

Remember, as with any syndrome: the risk of having a child himself suffering from the syndrome is 50% in the case of a single parent affected.

 

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 himself the carrier of the deletion. To our knowledge, if the parents are not carriers of the anomaly (accidental mutation called de novo on their affected child), then the risk is very low to have another child Koolen De Vries.

 

What financial aid can you get?

  • The 100% Social Security allows you to have all the care related to the syndrome ( and normally covered partially by Social Security) , reimbursed in full.

  • A request for recognition of the handicap, education allowances, priority card and parking can be made at the Departmental House for Persons with Disabilities (MDPH).

  • Some employers also offer financial assistance, flexible working hours, availability days for children with disabilities ...

  • Certain mutuals may also grant you aid.

 

Our Kool Kids, evolution

 
  • Birth

  • 6 months

  • 1 year

  • 2 years

  • Four years

  • 6 years

  • 10 years

  • 14 years old

  • 18 years old

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