– With Antek, the improvement was visible to the naked eye. Before our son was given the stem cells, he had trouble using the carnation. But on the third day after administering the cells, he got on a ride-on horse and was able to push himself off with his feet in a ride-on ride. As if the strength in the muscles is back. It was unbelievable. A miracle really happened. We talk to Joanna Rydygier-Tomicka, the author of the petition “For cell therapies to be available in Poland”, about the lost hope.
Mrs. Joanna, let’s go back to August 2015 – the month that radically changed the lives of you and your family. What happened then?
Worst of all: diagnosis – a rare genetic disease. Incurable and progressive. Type 1 myotonic dystrophy was first confirmed in my husband, and then in our son Antek.
How did your husband, a physiotherapist who works with children suffering from Duchenne muscular dystrophy, receive the diagnosis?
It was a gruesome diagnosis for my husband. Until today, Tomek has not come to terms with his illness. He also did not accept the necessity to give up his profession. It is difficult for me to imagine what he feels when he returns to his sanatorium, but not as an employee, but as a resident. Physiotherapy has always been his passion – in my life I have met very few people who went to work with such enthusiasm and devoted themselves to it with such commitment. But I think the worst thing for him was knowing that he had passed the disease on to the son we were trying to get for 10 years.
Have there been cases of patients with type 1 myotonic dystrophy in the husband’s family?
No, the diagnosis came as a complete surprise to us. I spent the last five years of my life learning about the disease itself. In 2015, there was little information on the Internet about myotonic dystrophy type 1, only later my blog appeared. At the very beginning, we obtained news from the United States, where diagnoses of this disease are much more frequent. We’ve even had contact with people who have studied myotonic dystrophy in mice. We grabbed on to literally everything …
Did anything foreshadow your illness?
Nothing for a long time. All the disturbing symptoms appeared within a month. It started with a decrease in muscle strength. Tom felt his hands were weakening. He had problems with the procedures, he could not remove the cork from the bathtub. Later, there were also: weight loss, difficulty swallowing, digestive disorders, breathing problems, slurred speech. At one point, I didn’t understand what he was saying to me. His colleagues in the trade were the first to alert: «Tomek, do something about it, don’t wait!». Already during the first consultation, our Toruń neurologist Dr. Jacek Kochman, MD, stated that it could be Curschmann-Steinert’s disease, i.e. myotonic dystrophy type 1.
Considering that it is a hereditary disease – in subsequent generations myotonic dystrophy manifests itself in younger and younger people and is becoming more severe – he asked about the children and suggested that we carry out genetic tests on his son. As I found out later, my husband was the first patient in whom Dr. Kochman was diagnosed with Curschmann-Steinert’s disease. Extremely rare, but with the characteristics that I already know today: oblong face, sunken cheeks, drooping eyelids, forehead alopecia, sad facial expressions. The sick do not even have the strength to smile.
Have you seen any symptoms in your son that might indicate an illness?
Yes, before we started diagnosing my husband, I began to observe that something was wrong with Antek. At 11 months he walked beautifully, but when he was 13 months he began to stumble and fall. During a home visit, the pediatrician found the child’s development to be strangely unstable and still had to wait. I heard that he may be stumbling over “thick” legs in his knees or pampers. And when we were going to go to Łódź for my husband’s genetic tests, I insisted on taking Antek with me. Although the doctor did not see anything disturbing about her son during the physical examination, she said, at “the mother’s persistent request” – a smear was also taken from him for possible genetic diagnosis. When my husband’s diagnosis was confirmed, we received a call from Łódź that Antek’s samples had been sent to the laboratory.
How long have you been waiting for the results of the genetic tests?
We waited six months for my husband’s diagnosis, and another three months for our son’s diagnosis. It turned out that the husband was a carrier of the DMPK gene mutation in a very large number of repeats – over 100. Antek’s son did the same. This type of mutation affects the course of the disease, including the severity of its symptoms.
What treatment did the doctors offer you?
None, because there has been no treatment and there is no treatment. In the face of myotonic dystrophy type 1, medicine remains powerless. I remember that during one of Antek’s many neurological consultations, the doctor had tears in her eyes. Our son was less than two years old and has already been sentenced to death. I asked the doctor what she thought about the experimental stem cell therapy. She smiled and replied, “Go for it.” What could we do? We went into “it” with hope.
How did you find out about the experimental stem cell therapy?
I watched the program “Question for breakfast” with prof. Magdalena Chrościńska-Krawczyk, MD, PhD. She talked about experimental therapies with stem cells in neurodegenerative diseases, and myotonic dystrophy is one of them. Thanks to this, we learned that they qualify patients for a medical experiment in Częstochowa. At that time, we only knew my husband’s diagnosis. When the hospital, Klara Medical Center in Częstochowa, received a positive opinion from the local Bioethics Committee for this type of treatment, Tomek started therapy at the Klara Medical Center.
When Antek’s diagnosis was made, it turned out that there is no pediatric ward at the Klara Medical Center. So for Antek we had to look for another facility. It fell on Lublin – University Children’s Hospital, where we met with prof. Chrościńska-Krawczyk. It turned out that the University Children’s Hospital in Lublin applied to the Lublin Bioethics Committee for approval of treatment with a medicinal product, i.e. stem cells. Our son was also qualified for this project. Due to the distance of these hospitals from Toruń, we decided to treat my husband and son in one center. Our son obtained approval from the Bioethics Committee for five applications, then we moved to Lublin, a private facility Żagiel Med.
Experimental stem cell therapies are very expensive – where did you get the money?
That’s true. It is an expensive therapy, not reimbursed by the National Health Fund. At the moment, when Antek’s weight has increased, a one-time application for him and his father will cost about 35. zloty. To raise funds for the first application, we had money from the sale of the car, then the family helped us, but finally we faced the decision whether to sell the apartment. However, we quickly realized that this would not solve anything. We would be left homeless and without money. All we could do was give up privacy and sell our story on social media. It was very difficult. At stake were two human lives and perhaps a light at the end of the tunnel. I think everyone would do the same. People of good will helped us a lot …
How did your husband and son respond to the treatment?
In Antek’s case, the improvement was visible to the naked eye. Our son had problems using the ride-on. But on the third day after administering the cells, he got on a ride-on horse and was able to push himself off with his feet in a ride-on ride. As if the strength in the muscles is back. It was unbelievable. A miracle really happened. For my husband, the effects were not so easily noticeable – the first injection was into the spinal cord, and as it turned out later, intravenous injections brought him much greater improvement. In addition, he had a two-year break in therapy due to other health problems. We can see that my husband’s stem cell therapy was a good decision, because the disease slowed down, while Antek’s was progressing. It is enough that eight weeks have passed from the administration and we can already see a regression. Antek starts stumbling, has problems with climbing stairs, and becomes weaker.
How did the boy endure therapy?
The most difficult thing for him was to come to terms with the fact that someone was interfering with his body all the time. Today, when he knows what he is suffering from and understands that therapy is the only possible way to slow the progression of the disease, it becomes easier. The biggest inconvenience is the punctures, which have already been a lot – 19 applications, each of them preceded by a series of tests in Toruń or Lublin. There are many adhesions in its tiny veins.
What happened that you can no longer continue the therapy?
I would like to know myself, which is why I wrote the petition. On April 4, we were on application in Lublin, and two days later I found out that the therapy was suspended by a resolution of the Supreme Medical Council (NRL). As a parent, but also the president of the Stem Cell Innovation Association, I have to react to incomprehensible decisions and I wrote a petition. I cannot speak for the parents of other young patients, but the therapy helped us and allowed us to look at our future differently. Because we had nothing, and we got a therapy that improved my child’s quality of life and slowed down the progression of the incurable disease.
What is your current situation?
We have information from the hospital that the Bioethics Committee, after the intervention, withdrew its decision to suspend the therapy and agreed to complete the therapy. I emphasize the completion of the therapy, i.e. two more scheduled applications. The same applies to other children whose therapy has been discontinued. However, this does not solve our situation. We still don’t know what to do next… I think there was a very ill-considered impulse behind the NRL resolution. Yes, I agree, there are many types of stem cells and the layman can fall prey to anecdotal evidence. I myself came across offers from various stem cell banks and various clinics. That is why I was analyzing the case and looking for medically confirmed stem cell therapies and such cell therapies that are compliant with the law in force in Poland. We did not fly to Bangkok, but now that our chance has been taken away from us, we will have to seek help abroad. Another question arises why people sitting in various institutions put pressure on people sitting in the Bioethics Committee, which should be, as the name suggests, ethical and independent in its opinions.
Meanwhile, no one from the committee talked to patients or parents, did not ask about their current state of health, and overnight therapy, which is the only form of treatment, is banned from the top. It is even more surprising that the Polish state does not reimburse this form of treatment. Not only does the patient pay for himself, but the patient is also forbidden to receive treatment. Why are experimental stem cell therapies not banned in other countries? Why are seriously ill patients forced to seek treatment outside Poland? Perhaps someone does not like public collections, but after all, many patients suffering from neurodegenerative diseases pay for therapy, rehabilitation classes, the purchase of hygiene products, orthoses and many other things necessary to function from their own resources. Hope was taken from them too … For us, it is a sentence: a wheelchair, and then a respirator. Until the doctors find a different cure for dystrophy, I will fight for the possibility of continuing this therapy in Poland as the only one that will give my son a chance to keep my son fit.