Alkaptonuria, hemiplegia, leukodystrophy. This is what exotic species of butterflies in tropical jungles could be called. However, these mysterious names bring with them not beauty, but suffering of 350 million people. So many people around the world suffer from rare genetic diseases. As much as 75 percent some of them are children.
They are called rare, but if people with genetic diseases were to live in one country, it would be the third largest country on Earth. There would be 30 million Europeans alone, and as many as 2 million Poles. Most of them would not finish elementary school yet – as many as every 25 toddler is born with a ticking bomb in the body. Nearly 6 rare diseases of genetic origin have been detected. They differ in symptoms and effects, they are united by a very severe course. And the fact that 95 percent. of them, no cure has yet been found.
Cancer would be a godsend
– We prayed that she would have cancer. This, at least, can be treated – when Michał Branczewski, a big, strong guy, recalls waiting for his 5-year-old daughter’s diagnosis, his voice breaks. – It turned out that we are not so lucky.
Amelka’s diagnosis is metachromatic leukodystrophy, called MLD for short, a disease that damages the so-called white matter in the brain. Nerve cells are destroyed due to low or no ASA activity, but children with MLD after birth can get 10 points on the APGAR scale, because the first symptoms of the disease appear between 10 and 15 months of age. Disturbances in mental and motor development, nystagmus, muscle spasms, limb paresis, loss of swallowing ability, epileptic seizures – late infant leukodystrophy acts like terrorists from action movies, causing chaos in the city through failures of subsequent systems.
Amelka with her parents and brother. Photo family archive
Genetic terrorists can survive in hiding for many years – the adolescent form of the disease appears between the age of 4 and 10, and the adult appears in the second or third decade of life. Infants live the shortest time with MLD, up to 3-5 years. In adults, leukodystrophy can last for years, but its end is the same. – We learned that this disease is 100 percent fatal and there is no cure for it. It was a drama. Our wonderful, so far healthy child will die? – Amelka’s dad recalls. – We were offered a meeting in 2-3 months with a specialist professor. For 15 minutes, because there are virtually no chances for the child. Home care and a hospice are recommended – today Michał says that they were lucky in the misfortune anyway, because Amelka was diagnosed immediately, thanks to Dr. Anna Winczewska-Wiktor from the Neurology and Developmental Age clinic in Poznań. From the moment her parents noticed the first changes in their daughter’s behavior in early 2011 – minor imbalances, blurry drawings – it took three months to diagnose her. And from the visit to Dr. Winczewska-Wiktor to diagnosis, literally a dozen or so days.
– Even in the clinic in Milan, they were surprised how the doctor, guided by the sixth sense, diagnosed Amelka so quickly. Usually, diagnostics take so long that it is too late for anything for these children.
See photos of Amelka before and after the treatment
Genetic roulette
Doctors give children with the early-adolescent form of MLD a chance of survival until the age of 10-12. It is a drama stretched over time, because the child gradually fades away, stops playing, talking and walking. He suffers more and more and then dies. When Amelka’s parents found information about their daughter’s illness on the Internet, they were terrified.
– We read it and we didn’t believe it. This can’t be it! Talking to family, friends, friends, we heard one thing: … it’s impossible, you are crazy, such a rare disease, still genetic !. We are both specimens of health, there has never been such a disease in the family, how is this possible?
The genes of Michał and his wife Justyna were to blame. Attorney-at-law and pharmacist from Batorów near Poznań, both energetic and with strong characters, got along like in a bunch of poppies. With one exception – each of them carries the MLD recessive gene. They do not wreak havoc in their bodies, but the risk that their child will inherit both genes and become sick is 1 in 4. And although Amelka suffered a bad fate in this lottery, the genes that condemned her to death could also be her salvation.
– In Warsaw, we were told that some kind of hospital in the USA is carrying out experimental therapy with bone marrow transplantation, but that’s about it. We didn’t believe it – recalls Michał. – We started looking for, contacting parents of other sick children. Thread. There was enzyme therapy, but the pharmaceutical company suspended research and production. We keep looking, we cry, we don’t eat, we don’t sleep. We pray for a miracle.
And a miracle happens. The neighbor of Amelka’s parents and the dad of her best friend finds information about the therapy on the Internet.
– A few days after the diagnosis, the neighbor said that he found a page in Italian, they write something about leukodystrophy – in Michał’s voice you can hear an echo of that joy. A neighbor found a needle in a haystack – the only clinic in the world to experimentally treat leukodystrophy with gene therapy. Then the miracles continued, the Italians responded quickly to the e-mail, asked for the test results. And later they invited the Branczewski family to Milan.
See photos of Amelka before and after the treatment
Race against time
– My daughter was diagnosed on April 6 and we were in Milan on May 18. Research has begun. I will not forget it for the rest of my life – says Amelka’s dad. – The council is sitting, watching and they can say thank you, the child is not eligible. And the daughter will die – because there is no other alternative.
The next days and more tests, finally the longed-for news – Amelka will be given gene therapy at the Istituto San Raffaele Telethon per la Terapia Genica (TIGET) in Milan.
Since it is an experimental clinical program, the Branczewskis do not have to pay for a therapy that costs hundreds of thousands of euros. The Telethon Foundation even rents them an apartment in Milan so that they can be as close to their daughter as possible. For the next few months, dad and grandmother (mum in advanced pregnancy with the second child returns to Poland) will change daily by Amelka’s bed and watch their girl endure the toughest, the so-called red chemotherapy that instantly destroys the marrow.
Infusions every four hours, central chest puncture – in the photos posted on the website www.amelkabranczewska.pl you can see how a chubby, feisty blonde girl is made into a shadow of a child, connected to coils of tubes and sensors of medical equipment.
– The crisis was over after chemotherapy, but the little one overcame it, fooled around, watched cartoons. Then finally came the moment of infusion. Two syringes with a new life for Amelka – says Michał. They contained Amelia’s bone marrow and… HIV virus. He is the basis of therapy. The modified virus is combined with the patient’s marrow cells in the laboratory. HIV breaks into cells and pastes its genetic material. It’s just that this time he puts in them not his deadly code, but the correct versions of genes vaccinated by doctors. Modified cells with healthy genes are injected into the patient’s body, where they resume their normal work. The creator of this treatment method, Professor Luigi Naldini, has been working on modifying the virus since 1996. Amelka was the first child in the world to receive this form of MLD undergoing gene therapy.
See photos of Amelka before and after the treatment
There is always a chance
In May, the Branczewskis left for Milan with a terminally ill, but full of energy, 5-year-old running and playing. In October, they returned with their daughter, whose body had overcome the disease.
– Today, according to research results, Amelka is healthy. The disease was 100 percent defeated – says Michał. But not everything went as planned by the doctors. – It turned out that the kidneys were damaged during chemotherapy. While still in Milan, she developed severe acidosis, it was a serious threat to her life. She came out of it, but after returning from the ICU she felt like a rock. She stopped wanting to play, talk, do anything. Within a dozen or so days, she lost her motor functions and stopped talking. Doctors tried everything. Unfortunately, to this day Amelka does not walk, talk, sit, and in nappies. We don’t know why this happened. Is it a side effect of the therapy, or maybe the treatment was started too late and this is how the disease manifested itself?
Leukodystrophy is an insidious disease. It was first described in 1925 and identified as a genetic disease of the nervous system in 1958. But to this day, it can surprise doctors. – There are several hundred MLD mutations. Amelka had two. One is known and the other one that doctors in Milan who have been dealing with this disease for 12 years had their first contact with. Maybe it was she who decided that the daughter was in this condition. Because we saw other children after therapy who were supposed to be dead, but play, jump and are 100 percent normal.
However, Amelka did not lose consciousness. And her parents rejoice that their daughter is alive:
– She understands everything, is sociable, laughs when necessary, according to research she is a normal child. It does not lie like a vegetable, it moves its head and hands.
Amelka watches TV with her parents, plays games, and fools around with her brother. Wiktor, with whom Justyna was pregnant when Amelka was diagnosed, is two years old today. And he is healthy, although the risk that siblings of a child with MLD will also be sick is as high as 2 to 3. The Branczewskis still believe that they will regain their former Amelka:
– He has motor memory, the dysfunction is not progressing, the test results are perfect. This is neurology, miracles happen here. Stroke people keep coming back, why shouldn’t she come back? – asks Michał. And together with his wife, he does everything to facilitate his daughter’s return to fitness:
– He has rehabilitation like an Olympian. Special equipment, standing frame, massages, electrostimulation, hydro massage – something every day. And on Sunday we go to the cinema or theater so that it can also function socially. And every six months we go to Milan for testing. Sure there are tough times, but you can’t let it be sad for too long.
The Branczewscy run their daughter’s profile on Facebook and her website. They want to reach the parents of sick children, show them that it is not true, that MLD is a death sentence, that there is hope.
– We share our experience and tell them never to give up, that mortality can be overcome, children have a chance. Amelka too. Recently, she has been getting a lion’s mane, which stimulates nerve growth and improves the functioning of Parkinson’s patients. Maybe Amelka will help? We’ve already tried hundreds of combinations, and we’ll try hundreds more. Because we will not give up either.
See photos of Amelka before and after the treatment
Tekst: Agatha Brandt