Raising awareness, improving the quality of life of people affected by 22q11 and supporting early diagnosis in the Colombia.
In 2012 Cristofer was born with a heart defect. He had a surgery when he was 10 months old done by the Fundación CardioInfantil in Bogotá. His surgery saved his life and at that point we were not aware that he had any type of chromosome disorder. A genetic doctor from Universidad Javeriana and her team did a blood test on him where he was diagnosed with 22q11 and we are deeply grateful for receiving an early diagnosis, unlike many other children in Colombia.
Cristofer received medical checks by specialists from a very early age, analysing him in great detail. He has visited emergency rooms in hospitals several times. Actually, one of the first sounds he learnt to make was the one of an ambulance as he was so familiar with hospitals. Today, we are blessed and fortunate to say that Cristofer breaths, runs, goes to school, has friends and speaks. He still needs regular speech therapy and medical check-ups. His immune system is weak and he gets ill easily, but he is surrounded by love and an extremely supportive family and friends.
However, we are aware that children with 22q11 in Colombia are diagnosed very late in life and in most cases people are not even tested. They usually have surgery after surgery and spend most of the time in hospitals with their parents struggling to understand why the child gets ill so frequently and why they are showing delays in their development.
22q is associated with six of the top 10 leading causes of infant mortality and in some cases is very hard to detect, especially as every case is different and so unique. Hence, our purpose is to create awareness, to help other children that are born in the country with less opportunities and to support their families by providing information and having access to the international network of the 22q family around the world. We know that families share uncertainty and frustration and we want to create a network to share experiences to support each other.
We are aware that "22q11.2 is the most common microdeletion syndrome; affecting as many as one out of 1,000 pregnancies and it is found in one in 68 children born with heart defects. It is the most common cause of syndromic cleft palate. It can cause many other problems such as immunodeficiency leading to difficulty fighting infection and autoimmune disease, issues with feeding and growth; hearing loss; breathing difficulties; kidney and spine differences; autism, learning and behavioural differences. It has a wide variability amongst individuals with the deletion or the duplication. Some individuals have almost all of the above issues and others have almost none. This confounding fact alone, which is quite unique as chromosomal syndromes go, continues to present challenges".
We truly believe that having Cristofer in our lives has a meaning to help other children and to improve their lives and their families by creating the first 22q11 network group in Colombia with people who are affected by 22q11. Thank you for your support and helping us making a difference!