About Us

About Us

The foundation was started because we want parents and professionals to be able to share information about the rare atr-x syndrome. In The Netherlands there are about 25 boys known to have the syndrome. ATR-x is one of the many genetic disorders that may cause a developmental delay.

ATR-x Syndroom stands for: x-linked Alpha Thalassaemia mental Retardation Syndrome.

The 3 main symptoms of the ATR-x syndrome are:

• severe developmental delay
• characteristic facial features
• an unusual type of anaemia

Only Males express the symptoms of the syndrome, and  Females are generally only carriers of the atr-x gene. – However it should be noted that there are circumstances in which the atr-x gene is present due to  a ‘mistake at conception’ and the mother is not a carrier.

The goal of this website is to provide information about the syndrome and the foundation.

Why was the Dutch ATR-x Syndrome Foundation created?

As parents of a son with ATR-x, we have many questions:

• What is ATR-x syndrome exactly?
• How will our son develop?
• Are there any symptoms we need to take into consideration (for example epilepsy, spasms, etc)?
• What are the experiences of other parents/carers/family members?
• Are there doctors or therapists we can see?
• What is the life expectancy of someone who has ATR-x?

Unfortunately we get very few answers to these questions and medical science has not yet progressed far enough to give clear answers. Worldwide there are roughly 300 known cases (boys) with ATR-x, and in The Netherlands there are 25 registered atr-x boys.

The ATR-x Foundation is very focused on attaining the following  goals:

• Seeking contact and sharing experiences and information with other parents/ carers/ family members and professionals, to get more insight into the life of someone who has ATR-x syndrome
• maintaining direct contact with therapists and specialists about the care needs, the latest developments, and research on ATR-x.
• Gaining awareness of the ATR-x syndrome in general, and for medical professionals and carers in particular so that they can carefully and quickly come to a diagnosis and consequent treatment plan
• Representing the interests of individuals with ATR-X syndrome, their parents / caregivers and family members, in order to promote their welfare and opportunities and to increase their potential in society

Through fundraising, we can attain these goals and we can try to answer many more questions in the future, and guide our children through life as well as we can.

Only through research we will be able to find the cause of ATR-x syndrome, develop treatments, and gain awareness about the syndrome. In addition, we can gain insight into the specific needs of ATR-x patients and their families.