What will happen to our son if we do not manage to find him treatment?
Without treatment, over the next few years Stas will die a slow and painful death. He will no longer be able to talk about the things he loves. Then there will be a day when he will call out "mom" and "dad" for the last time. He will lose his sight. He will not turn to look when we hear a fire truck signal because he will soon lose his hearing. He will not be able to move, and I will not be able to explain to him why all this is happening. Later he will have a probe inserted into his throat for nutrition, because he will lose the ability to swallow. Eventually he will slip into a coma and die.
Until recently, I told him that we would travel: I will show him our mountains, Malaysia and other places that we love. Even if we never go there, I would like to tell him about it. Stas just turned 2 years old, and already he has to face this deadly disease.
In the hospital, during the magnetic resonance scan, when we waited for the end of the procedure, I repeated in my mind like a mantra: "Let it not be cancer." Now I know that with what we have to face, cancer would not have been so terrible. At least it can be treated... Most doctors when they see the diagnosis of "metachromatic leukodystrophy”, they send patients home or to a hospice for palliative care. Any mother who hears these words will break down in tears and then will do anything and everything to save her child.
Stas was growing up exemplarily; he started lifting his head, soon he was babbling. He had such a clever look from the beginning, and everyone who saw him was delighted. When he was six months old, he started crawling, and four months later he started walking. I was so proud and happy because my child was making great progress.
When he was 16 months old, we were a little worried that he still walked like he is learning to do so for the first time. We noticed a slight hyperextension of the knees also. The orthopedist calmed us down and told us to wait. “It will pass," he said. Our anxiety grew when we visit a neurologist, after which began a long and painful diagnosis which lasted almost half a year: 3 stays in the hospital, 3 magnetic resonances, lumbar puncture, countless blood checks and consultations with doctors of many specialties, physiotherapists, osteopaths.
Then the result came: a low level of the arylsulfatase enzyme suggesting metachromatic leukodystrophy. The leading doctor calmed us down and suggests DNA testing. "Do not read anything about this disease, if it can be treated. Let's wait for the DNA testing." We did not listen, and on that night with my husband, we scoured everything about the disease that we can find on the Internet. There is no help. For our son, who just recently had a "light problem with his knees", it is too late…
We found a doctor in Poland who was willing to help us. Professor Krzysztof Kalwak from Wroclaw is well known for innovative bone marrow transplants in rare metabolic diseases. After a short telephone conversation, the professor painted us a picture: we have to act, there is no time to lose. We have to look for a donor for a bone marrow transplant. In the late-infant stage, doctors do not offer much hope, but the professor starts the procedure of looking for a donor, which continues till this day. There is a chance if we are able to find a donor quickly. The more time passes, the more Stas' chances for living decreases.
We were looking around Europe for possible treatment for Stas. We found a clinical trial gene therapy program in Milan, but it turns out that the research is still ongoing, and symptomatic children in Stas’ age group will not be admitted to the program. The so-called “compassion therapy" is not conducted outside the program.
On the websites describing clinical trials, we learn that the same project in Italy is carried out jointly by centers in Hong Kong and Guangzhou. Stas is accepted into the compassionate therapy procedure, with an absence of the grant for clinical trials. Because we still do not have a matching bone marrow donor, autologous gene therapy is now his only chance to live.
I was never afraid of anything, and I never thought of the possibility that one could be so afraid. When faced with the deadly disease of my only child, I panicked as only a mother could. Before Stas was born, I never thought that one could love someone so much.
The only thing in this world that we have here and now is life. Stas has a chance to live and we will fight for him. We hope that you will too. Thank you.