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In the 31st week of pregnancy, Martynka's parents heard that their daughter would be born still. Earlier examinations did not reveal any abnormalities. The girl was born with a very rare genetic defect - Roberts syndrome. The operation in the United States gave the family a chance for a substitute for normalcy. The editors of the Poradnik Zdrowie portal talk to Martynka's mother.
When did you find out that Martynka will not be born he althy?
Aleksandra Dzięciołowska: In the 31st week of pregnancy.
So at the end?
At the end.
Previous research did not reveal anything?
On ultrasound, the so-called It turned out that Martynka is too small for the duration of pregnancy. The doctor said it was most likely a hypotrophy. In a later ultrasound, the doctor also confirmed that she was too small, but he did not see that her arms and legs were shorter, that everything was not as it should be. It wasn't until week 31 that I was hospitalized to check the flows in the umbilical cord. During an ultrasound in the hospital, it turned out that Martynka's legs were too short. I was sent to Bydgoszcz, where it was determined that it was definitely a genetic defect. I had prenatal tests, cord blood tests and amniotic fluid tests - no tests showed anything.
That's when you found out that Martynka will probably be born dead?
Yes - in the 31st week of pregnancy! Then I got a referral for a childbirth in Bydgoszcz, but if I did not manage to get there, I was given a whole set of test tubes to collect blood from a dead child! They did not give her any chance to survive, and we were ordered to take the blood in order to find out what the defect was …
Terrible … Where was Martynka born?
Finally, Martyna was born in Łódź in "Mother Poland".
How much did she weigh and measure after birth?
It weighed 1400 g and measured 42 cm.
How did you react to the news that your child will be born still? It must have been a shock.
It was a huge shock, so we visited a few more doctors to confirm what we heard. Including that's why Martyna was born in Łódź - not in Bydgoszczshe was given a chance to survive, and the professor from Lodz said that it did not have to be that way. She also added that the child will certainly be born with a genetic defect, which does not mean that it will be born still. Doctors from Bydgoszcz insisted that Martynka be born naturally. In Lodz, on the other hand, pressure was placed on caesarean section.
And of course you chose Łódź. What was your reality like after Martynka was born? Have the doctors in any way tried to educate you about this disease? Have you tried to help you understand what a genetic defect is, direct you or instruct you what to do next?
No. After seeing Martyna, the professor radiologist suspected that it was Roberts's syndrome, which was confirmed by genetic tests. Martyna was in the hospital until she reached a weight of two kilograms - a safe weight that allows her to return home. In fact, we were looking for everything ourselves.
When did she go home?
After a month and 10 days.
From then on, everything you did was the result of your initiative? How did it start?
It started with a visit to an orthopedist who said that Martyna was too small to do anything. The visit did nothing. Even then, he claimed that Martyna would lead a sedentary lifestyle and would be in a wheelchair.
But that didn't put you off, did it?
No. This is how the adventure with orthopedists began - we traveled all over Poland, but we heard that nothing can be done with her legs and that they should be amputated.
What happened next?
We happened to come across an interview on television with the mother of a boy who was treated in the United States by Dr. Paley. It was a completely different disadvantage. I contacted this mom and she put us in touch with the doctor. It turned out that Dr. Paley was just arriving in Poland. We arranged for a consultation, and we heard from the doctor that he is able to perform leg surgery so that she can walk on her own.
It gave you hope …
Yes, it gave a lot of hope, but the decision to leave was very difficult. It was a trip to the States where we had to part ways for many months. My husband Marcin was there with us at the beginning and later he also came to us for a while with our son, but I was there alone with Martynka for many months. The entire treatment was 9 months in the first stage. It was supposed to end in the first stage, but it wasn't over, so we had to fly again, but only for a month.
What was the result of these operations?
Martynka started walking.First at the balcony, and then independently.
This is a great success. How old was she when she was first operated on?
She was 5 years old.
How did you manage to collect the amount for the treatment of your daughter?
The entire cost of the operation was covered by the National He alth Fund. We had to collect for medical expenses, i.e. for the entire stay in the US, renting an apartment, drugs, commuting to the clinic, dressings. The funds were collected by the foundations, but we were the ones who obtained them, and they influenced Martyna's sub-account in the foundation.
The Polish foundation from Chicago also helped us a lot, and during our entire stay in the United States they helped us, also financially.
When Martynka was born, it was the second case of this disease in Poland, right? Was the Polish he alth service prepared then for a child with this genetic defect?
Not prepared to date. We go to the genetic clinic, where the geneticist doctor told me directly that she learns from us - she writes down notes from my reports on how Martyna is developing, thanks to which she can complete the data. If a child with Roberts syndrome was born and brought to the clinic, they would have any knowledge about it.
So, after Martynka, a child with this defect was not born in Poland?
I have no knowledge about it, but probably not. More than once, when I google "Roberts's team", I always only got materials about Martynka.
It's wonderful that you managed to raise funds for the surgery. Is there anything you would like to say to people who have faced a similar situation?
When we found out about the defect, it was indescribable for us. We couldn't imagine what our life would be like, our world collapsed. As time passed, we realized that we shouldn't give up and we should fight. As of today, we function normally! Martyna loves to go on vacation with us, we take her everywhere, we cannot imagine that she would not be with us. Despite the fact that she is a disabled child and will require the help of third parties all her life, she must not give up.
You had a goal for many years, because even a minimal improvement in this situation was a great achievement for you!
Our goal was to do everything possible to make Martynka as independent as possible.
And you did it. In the face of what you heard from the doctors, you managed to achieve a huge success!
More about Martynka here
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Marcelina Dzięciołowska Editor for many years associated with the medical industry. He specializes in he alth and an active lifestyle. A private passion for psychology inspires her to take up difficult topics in this field. Author of a series of interviews in the field of psycho-oncology, the aim of which is to build awareness and break stereotypes about cancer. He believes that the right mental attitude can work wonders, therefore he promotes professional knowledge based on consultations with specialists.