Franek’s life is at risk! We must stop the SMA! PLEASE HELP!

Latest update

October 4, 2022, 3:12 pm

Franek’s life is a horror! The only hope is URGENT gene therapy!

The reimbursement of the most expensive drug in the world does not include Frank. However, it is the only solution to stop SMA! Although our son is being treated with a different medication, it is not as effective…  

Every intrathecal drug administration is unbearable for Frank! He suffers tremendous pain during every procedure, which he will be forced to undergo for the rest of his life if he does not receive gene therapy on time…

Cry, night sweats, and waking up with fear are the results of the current treatment. 

Frank’s trauma breaks our hearts, and we cannot do anything about it!

Our son has developed a bladder infection, which has kept us on our toes for the last few nights. Any disease is twice as severe in comparison to other children. Every time he gets sick, we are afraid of the outcome…

Our journey to receive gene therapy has just begun. Please, help us achieve our goal by sharing and donating to our fundraiser! You are our only hope. 

 

Campaign description

Two severe genetic disorders take away our little son! One is incurable, but the other, SMA, can be stopped! However, the cost of treatment is enormous, and we are running out of time since we received the diagnosis too late. We ask you for support, so we do not lose an opportunity to save our son! 

Sometimes it is hard to believe what happened to us and our little angel, Frank. 

He was born as a healthy baby. My pregnancy was healthy, too. 

We left the hospital as soon as his examination had finished. 

Everything was fine for the first six months…

Our son reached developmental milestones even faster than other babies! We were so proud and happy. We get emotional every time we think about those days. They seem so distant… 

One day something terrible happened to our son. He had a seizure. A physician referred us to a neurologist who claimed it was common epilepsy that should stop soon. He prescribed a ton of medications which made Frank unresponsive for days. 

The seizures persisted, though. 

In the hospital, we learned that Frank might have developed West syndrome after the doctors had seen the movie clips of the seizures. 

Frank underwent genetic tests and received new medications. They seemed to work, which made us so happy! Seizures stopped, and our Frank was back! He was talkative and responsive again and started to make up for the developmental milestones he once lost. 

We hoped the worst was behind us. We did not know what was ahead of us, though. 

At the end of May, our son’s body became floppy again. He completely lost muscle tone. We all thought it was a side effect of new medications. We also still waited for genetic test results. Meanwhile, our GP was concerned about Frank’s health condition.

While we were waiting for the confirmation of West syndrome diagnosis, the doctors discovered another genetic disorder. Frank suffered from SMA—spinal muscular atrophy! 

It came so unexpectedly! We were relieved, though. All in all, if it wasn’t for that accidental discovery, our son might have died! And without the proper treatment, the life expectancy of children with SMA is only up to two years! Ironically, Frank’s symptoms were assumed to stem from a different disease…

We found out about it at the last moment. It was a godsend. 

We managed to receive the reimbursed treatment in Poland. However, we already know it is not enough to stop the disease! Frank’s condition is severe. SMA has already affected the larynx muscles and has caused breathing difficulties. 

Frank cannot sit—it could make his heart stop! We have started a dramatic fight to stop SMA. Our situation is tragic! 

One rare disorder combined with another is life-threatening! The doctors have no doubts about West syndrome—it is incurable. We need to focus on SMA, or it will be too late! The only hope for Franek is gene therapy, the most expensive drug in the world and still non-reimbursed in Poland!  

To simultaneously fight progressive muscle atrophy and seizures is extremely difficult. Although the latter is under control due to the medications, we cannot predict what will happen next. We are fighting against time! We need to stop SMA as soon as possible! 

Frank is so brave, so courageous, despite everything he went through. He cannot sleep at night and wakes up every thirty minutes due to breathing difficulties… 

However, he is so happy and cheerful! Our little angel, the heart of our family. 

We cannot imagine losing him! And once we almost did…

Our son weighs 10 kilos. Gene therapy can only be used in children under 13,5 kilos.

We have faced the most challenging and crucial goal—to save Franek. 

We must give him a chance to live! 

Gene therapy is a one-time treatment. We ask you from the bottom of our hearts to help our son! Any donation matters!

The parents