Our Story

Extremely rare

Chromosome abnormalities, such as chromosome 6 deletions or duplications (respectively too little or too much chromosome material) are a cause of serious, sometimes life-threatening, birth defects and delayed development in children. There are many of these different chromosome aberrations on chromosome 6, all with different symptoms and all extremely rare. There are now around 1000 children and some adults around the world, as far as we as parents know, known with one of these different chromosome 6 deletions or duplications.

Symptoms

Some examples of symptoms that can occur in children and young adults with a Chromosome 6 abnormality are: Epilepsy, hearing loss, congenital heart problems, death from sudden cardiac arrest, SUDEP (Sudden Unexpected Death in Epilepsy), brain abnormalities, often a mild to very severe intellectual disability, kidney abnormalities, too high and / or too low muscle tension, feeding problems, swallowing problems, often recurring throat, nose, ear and respiratory infections, breathing problems, severe airway obstructions, sensory integration problems and difficult to understand behavior.

Great uncertainty

Because of this wide variety of chromosome abnormalities, little information is available for each specific abnormality, leading to great uncertainty for parents, doctors and therapists. Knowledge about the effects of these chromosome abnormalities is important to guarantee the best possible care, treatment and guidance for these children for now and I in the future.

Initiated by parents all over the world

Our foundation was set up in July 2023 as a result of the 'Chromosome 6 project' of the University Medical Center Groningen (UMCG) in The Netherlands. This research was initiated by parents all over the world and honored by Professor Conny van Ravenswaaij and her team. Since the beginning in 2013 parents and carers have been involved in this research in many areas such as providing information and advice to the research team, undertaking fundraising activities and promoting the ongoing research. 

Money

Unfortunately, it is still very difficult to get grants from larger funds for research into very rare disorders such as those on Chromosome 6. The money raised by parents and researchers of these children so far is not enough to fund the ultimate goal, the launch of the 'interactive online prediction tool for chromosome 6 abnormalities'. That is why we as parents have taken the step to create more awareness among a larger audience for these still relatively unknown, very rare abnormalities on chromosome 6 and of the importance of the 'Chromosome 6 Project' of the UMCG for the well-being of our children and families.