Useful

In this section, we present some questions we have received over the last few years and often things we have wondered about ourselves as well. The answers are personal opinions, our own approach, and the information we have received over the last few years. Please take them in good faith as advice.

Where can I find information about Kleefstra syndrome?;

In Greek, unfortunately, there is no other site with information or parents' experiences besides this one. In English, you can search for official articles and studies published in scientific journals at https://scholar.google.gr

The www.kleefstrasyndrome.org It is the most widespread and official site for the syndrome. It is managed by the parents of Leah, who has Kleefstra syndrome, and they provide information about the syndrome and updates on the treatments these specific children undergo. They are also the ones who organize events and parent meetings, and support awareness of the syndrome with awareness wristbands and regularly updated logos.

To http://www.alexandersfund.org/  this is also a personal site that provides information about the life of another rare child, Al. The team helping Al provides more details and photos regarding the child's daily life, medical exams, and progress.

Some well-known companies involved in research surrounding the syndrome are:

On all the above sites there is a Donate option for anyone who wants to financially support a particular family or fund some research or volunteer their time or even, if they are a researcher, to contribute to the research team.

Why should I do genetic testing on my child? He might just be a little slower than the others. Why should I put a “label” on what he has?;

As parents, you may notice that your child is a little slower than the others. He or she hasn’t sat up, spoken, or walked by a certain age, doesn’t turn around when you call their name, can’t manipulate objects with their hands, generally seems lethargic, and exhibits many other symptoms that I’m not qualified to identify or analyze. However, once you notice these signs, and your child’s doctor recommends genetic testing, it would be negligent not to have it done. Because once the test shows that your child has a particular syndrome, they are automatically placed in a category with a list of treatment options. The treating doctor will stay informed by the latest research on that specific syndrome and will be able to better tailor the treatment plan. So, once you know what’s causing your child to be slower, you can take steps to address it. Knowledge is power.  

Is there a cure for Kleefstra syndrome?;

No. The absence or mutation of the gene that causes Kleefstra syndrome is «printed» in the patient's DNA. However, there are ways to manage the symptoms (such as with physical therapy, occupational therapy, and speech therapy).  

What can I do to help my child?;

First you need to find a good developmental pediatrician who will perform the necessary developmental examination on the child and determine what therapies he or she should follow. Our little girl started with physical therapies and continued with occupational therapies, speech therapies, and music therapies that helped her a lot. As far as I know, music therapy and therapeutic horseback riding are indicated for many children with psychomotor retardation. In any case, however, you should consult the specialized developmental pediatrician. Then, if there is a problem with any organ of the body, have the respective doctor monitor the child regularly. Beyond the developmental pediatrician, we also had regular examinations by a neurologist, cardiologist, ophthalmologist, endocrinologist, ENT specialist, and pulmonologist.

Will he ever speak and walk?;

There are children who walk faster than others, just as they speak earlier or later than other children. There are cases of children who started walking at age 4 but were not talking yet, and other children who at 6-7 started crawling and communicating with a special speech of their own with short words and a limited vocabulary. Some children can even read and write. What you need to understand, if you are raising a child with Kleefstra syndrome, is that every child and every case is different. Even children who have the syndrome and have the same symptoms react differently to stimuli and develop differently. And unfortunately, the number of recorded cases is so small and the studies so limited that safe conclusions cannot be drawn.  

How long do children with Kleefstra syndrome live?;

It is a very difficult question and there is no answer for the simple reason that the available studies are limited. The studies that exist so far report that these individuals may pass away from complications related to cardiac problems or pulmonary infections.  

How will I manage?;

There are benefits provided by the state when a child receives a disability certification from the competent authority (KE.PA). However, for something like this, there are prerequisites. If your child receives the certification, then, following a relevant application to certain agencies or even to your insurance fund, you can receive some financial assistance. However, it is a good idea to look into these a bit.