Neurofibromatosis Type 1! 12-year-old Gabryś and 15-year-old Kacper are battling this genetic disorder!

6 years ago 

It all began in 2020, when the results of my sons’ autism spectrum assessments came back. That’s when I found out that my older son, Kacper, has Asperger’s syndrome, and my younger son, Gabryś, has atypical autism. It was then, step by step, that we began to learn how to live anew. It was different, a little harder, but we slowly got used to our new reality.

Some time later, our neurologist noticed some distinctive light-brown spots on Gabryś’s body. They didn’t seem alarming, but the doctor ordered genetic testing. Fear came back to me again, but I still hoped it wasn’t anything serious. The waiting was the worst part. It felt like the hands of the clock had slowed down. But finally, the day came when my child received another diagnosis: NF1, or neurofibromatosis type 1.

Many unknowns

I hadn’t had time to come to terms with that diagnosis when another piece of news came. The doctor referred me and all the children for genetic testing. I remember that moment very clearly. Fear was a constant companion in my daily life back then. When the results came in, I wasn’t ready to hear them. The disease was confirmed in me and Kacper. My youngest son’s diagnosis is still pending.

Further medical tests for my sons

We were referred to Przylądek Nadziei in Wrocław, where a thorough evaluation of the boys began. Given the diagnosis and the risk of comorbid conditions, the doctors wanted to make sure that nothing was going on unnoticed in their bodies.

The hospital has become part of our daily life. It’s here that I talk to my sons every day, we laugh, and we hold hands. I’m terrified of what the doctors might tell me, but I have to stay strong. For them. For my children.

Everyday Life

The boys have already undergone several surgeries. They also have vision problems: farsightedness, low vision, and astigmatism. They often experience mood swings, and sometimes they become aggressive. When that happens, my husband and I have to make sure they’re safe.

These days, my husband and I spend all our time caring for our sons, seeking help, and visiting specialists. We’ve both had to quit our jobs. In the midst of all this, we also have 8-year-old Michał and 6-month-old Staś. The older boys don’t yet understand what’s happening to their younger siblings. They’re too young. Our grandparents are a huge support to us during this difficult time, taking care of our younger sons at home.

There are also days when we can slow down and catch our breath. On those days, Kacper immerses himself in the world of video games and computer science, while Gabryś cooks or plays soccer. These moments bring them a lot of joy.

Help is needed

Our daily lives go on, somewhere between the hospital and home. Between appointments, more tests, and test results. Our lives are a constant struggle to ensure their comfort and health. That is why I am asking for your support. Every bit of help is a step toward a better tomorrow.