Children with KMT5B-related syndrome have no time to lose - your help is needed!

Hearing a terminal disease diagnosis is like losing everything. It brings shock, enormous fear, stress, and dismay… There is a big question mark over the future of the whole family.

Those are the stories of the families of the children diagnosed with KMT5B-related syndrome, a very rare genetic disease, which causes many limitations and hardships. A child’s illness affects the whole family. The pain they feel after they find out that their child, who looks healthy, will never be independent is indescribable…  

Their reality is a constant battle to achieve even the smallest developmental milestone. The affected children have learning and memorizing difficulties and motor disabilities.

According to MRI scans, the brains of the children with KMT5B-related syndrome aren’t damaged and don’t have tumors. It is a gene mutation that is to blame. The parents won’t stop fighting for their children’s health and lives, though. They have joined forces to make gene therapy happen and give the little ones a chance to develop normally. 

Gene therapy might actually improve their health. In humans, each gene has 2 copies. In children with KMT5B-related syndrome, one of them is faulty, and although the other is healthy, it is still insufficient for the body to function properly. Gene therapy can improve health by delivering a copy of a healthy gene (a missing important protein) and, in this way, restore the nervous system’s ability to develop normally.

Currently, it is the last resort for sick children. Obviously, gene therapy won’t make all symptoms instantly disappear. Children will still require rehabilitation, various therapies, and daily support. However, the treatment might actually improve their ability to learn new skills, allow them to benefit more from therapies, and make progress that is now out of their reach.

Many of them have a chance to become more independent, communicate better, and have a promising future, which will be a dream come true for their families. This is why it's so important for them to receive gene therapy.

Unfortunately, when it comes to treating rare diseases, the biggest obstacle in developing treatment is money. The research cannot be started until one million euros are raised! That’s enough to cover the first and second stages. Since both are time-consuming, the funds must be collected as soon as possible so that the children won’t have to wait that long to start the treatment… 

Their health is deteriorating more every day. Their families suffer with them… Please donate and offer children with KMT5B-related syndrome a chance for a better tomorrow. Without your support, gene therapy development won’t be possible!

Meet our beneficiaries: 

💚 Anastazja

💚 Zuzia