MINJA'S STORY - CureADSLd

Even during the pregnancy doctors were concerned with her heart rate and the fact that she was unusually calm. Upon birth via emergency caesarian section, she received a good APGAR score, and all the tests were showing that she was a healthy baby girl. For a moment, we were relieved.

However, very soon thereafter, we noticed that Minja was unusually sleepy and would often not wake up to feed. When she was only three days old, she was taken to the intensive care unit, where she spent the next six months of her life. Due to breathing and heart cessations, numerous available tests were conducted, but none yielded any concrete results or explained the cause for her symptoms. She was battling bravely while we waited anxiously, filled with despair.

It wasn’t until Minja turned eight months that a diagnostic odyssey, characteristic to rare diseases, was concluded with genetic analyses revealing the diagnosis: Minja was suffering from an ultra-rare genetic disease, Adenylosuccinate Lyase (ADSL) deficiency – a devastating diagnosis that shattered our world!

Our hearts sank even further as we realized that no effective treatment exists for ADSL deficiency. It was a shock followed by a grieving period in which we had to come to terms with the fact that the future of our family would unfold completely differently from what we had imagined.

The thought of watching Minja’s gradual decline while not being able to do anything was unbearable for us. So, we decided to make our mission to develop an effective therapy for ADSL deficiency. The therapy will help not only Minja but also hundreds of other children worldwide who have been diagnosed with this devastating disease, as well as countless generations to come.

Today, Minja is a three-year-old girl who experiences frequent seizures, has no ability to speak, and suffers from visual impairment. Moreover, she cannot control her head, much less sit up, crawl, or walk. However, she has been fighting bravely and endures all the challenges she encounters. Her unwavering strength and resilience inspire us to continue on this difficult journey.

The projects that we have initiated give us hope that we can improve Minja’s quality of life, and enable her to experience more of the world that she has come into!