WES Genetic Testing
WES Genetic Testing
Lýsingu
As parents, we must always have wings large enough to surround our children and shield them from harm or pain.
Me - mom, dad - with four children on board: 13-year-old Lilka, 10-year-old Antosia, 8-year-old Gabriel and 12-year-old Mateusz. Each of them is extraordinary and at the same time different... And at the same time the same... Lila - has been suffering from epilepsy for 12 years, hyperkinetic Behavioral Disorders (ADHD). Antosia - with mitral valve regurgitation from birth, Mega Cisterna Manga, intellectual disability and increased concentration of ammonia in the blood, which poses a great threat to health and life. Gabriel - has been suffering from epilepsy for 6 years, high farsightedness, amblyopia in the left eye, collecting strabismus in the left eye, polyarticular laxity, and tongue dysarthria - which causes him major problems with speech. In addition, after genetic tests that we managed to do in the hospital, there was a mutation in the VUS KDM4B gene. Every parent will do anything for their child. We are fighting - for what? I want my children to be able to cope and be independent people in the future. It's about making their lives normal and allowing them to develop just like their peers. For several years, children have been under the care and supervision of specialists: neurologist, orthopedist, ophthalmologist, psychiatrist, cardiologist, metabolic diseases doctor, geneticist, otolaryngologist and gastroenterologist. Unfortunately, the mutation in the VUS KDM4B gene has not been described anywhere yet. What does this mean for us? The fact that we are still at a dead end, waiting for what else may happen, what other diseases may affect our children... The only chance to find out what may still await them is to expand WES genetic tests. It will allow you to check the coding sequence of all genes and compare them with the reference sequence. This will help us diagnose almost all genetic diseases with a significant influence on our parents and all children. Unfortunately, the amount of the study exceeds our financial capabilities. That's why we're asking for your support. For a better future for my children. For giving them a better life and diagnosis. The collection has been made available.
I always try to help and teach this to our children, but unfortunately in this case we have to count on the help and support of good people. We wholeheartedly thank you for every penny donated.