Angelman syndrome. Parents say that people marvel at their children on the street, saying, ‘How cheerful he is’. The parent replies, ‘He’s smiling because he’s sick’.

‘Imagine you’ve always dreamt of travelling to Italy. You get on a plane, but the plane lands in the Netherlands. And there are windmills and tulips and it’s beautiful, but you wanted it to be Italy. I identify with this comparison as a parent of a disabled child’, says Jacek, Jacuś’s father.

Jacuś is cheerful and sociable. He never stops smiling. Smiling is one of the symptoms of the disease. A very rare disease, associated with a defect in the 15th chromosome. It causes the boy to develop much slower than healthy children. He will probably never speak, he might not be able to walk, he will start suffering from regular epileptic seizures. The child will never gain independence. Angelman syndrome was discovered relatively recently, in the 1960s. Jacuś’s parents waited a year and a half for a diagnosis, and a genetic disease was the last thing they expected.

MISIA (JACUŚ’S MUM): You know, in retrospect, I feel like everything in our life was leading up to something like that. Our life was just too perfect.

Was the pregnancy perfect too?

MISIA: Yes. There weren’t even the slightest problems or indications that something might be wrong.

JACEK: It all started after the birth. Jacuś was unable to take a breath. He tried, but couldn’t. He was immediately connected to a CPAP, which is a breathing support device for newborns. Our parenting began with trauma.

MISIA: We spent the first month in hospitals. Jacuś had pneumonia and did not respond to antibiotics. It was a constant swing. He was about to be disconnected from the mechanical ventilator, and a moment later he had to be reconnected to it. We were about to leave the hospital, and they would inform us that they couldn’t help us after all and they were sending us to another facility to check if Jacuś had a fistula in his trachea. No one told us to get tested for a genetic disease, it wasn’t suspected at all. However, I feel that this first month, which at that moment was the most difficult experience we ever had, paradoxically, also prepared us for what was awaiting us the next year.

What was the first year together like?

JACEK: I was constantly worried that Jacuś would not survive. Misia didn’t allow this thought at all. On the other hand, from today’s perspective, it was a good place to be in. From what we knew, we had a healthy baby. If we lived in a remote area, we probably still wouldn’t suspect that our son is sick.

MISIA: For the first month in the hospital, I felt like I was on a parenting exam that I was constantly failing. I had to feed on time, Jacuś had to be able to swallow, and it wasn’t working. Today, I know that babies with Angelman syndrome have a problem with their sucking reflex and they tend to spit up a lot. The nurses wouldn’t let me feed him. After I managed to persuade them, I would feed him while he was connected to a device that constantly alerted me to measurement errors. If it worked out, I had another chance to feed and cuddle him, and if it didn’t – I was only allowed to try again in a couple of days. Under stress, I tried to do my best. This heavily undermined my confidence as a mother.

That’s when my postpartum depression started. I felt like I was an inadequate mother in every respect. That everyone would take care of my child better than I did. And I rejected him, I didn’t want to take care of him. When we got home, Jacuś was colicky due to the strain several antibiotics put on his body and he wasn’t gaining weight. At the follow-up appointment in hospital, they said he had to be admitted back to the ward because he was pathologically malnourished. I didn’t allow that. From the perspective of my second child, I see that our first experiences as parents were a nightmare. We later learned that most children with Angelman syndrome do not suckle, some are even fed enterally. We didn’t know that.

How does such trauma influence you as a parent?

JACEK: It’s like post-traumatic stress disorder. Especially when another hospital visit is coming up. At first, we turned on survival mode, there was no time to analyse or even take a closer look at ourselves. We had to feed Jacuś every three hours. The feeding lasted about 40 minutes, then it took an hour to put him to sleep. That left him an hour for sleep, during which we tried to bed down too.

MISIA: There was a moment when Jacuś had to receive extra feeding intravenously and I couldn’t stay with him. When you have to leave a tiny baby in hospital, you feel like the worst mother ever.

Why did the diagnosis take so long, a year and a half? What were you concerned about in your son’s development?

JACEK: A year and a half is still a short time. Some children with Angelman syndrome are diagnosed at age seven or eight.

Jacuś was developing very slowly. He crawled in an unusual way. He only started sitting up when he was a year old. First steps were out of the question.

Initially, we thought that such a delay might have been due to the difficult beginnings. I was most concerned about autism.

MISIA: I, on the other hand, was not afraid of it at all. When we were finally referred to a neurologist, I jokingly said to my husband that I was going to this appointment to prove to him that our son was not autistic. However, when the neurologist saw Jacuś, she said it was very bad, and immediately referred us to the hospital. I came home wondering how to tell my husband that he had to take the baby to the ward. I was far along in my pregnancy at the time.

JACEK: In the hospital, mothers of sick children would chat with me. They said that I needed to create a foundation sub-account right away and collect 1% from taxpayers (In Poland, it is possible to donate 1% of your income tax to charity.). But I knew it wasn’t my case. When I looked at the sick children and then at my smiling son, I couldn’t fit my life into that narrative.

MISIA: Jacuś was referred for tests for metabolic and genetic diseases. But we didn’t consider the latter at all.

JACEK: Anyway, we barely qualified for genetic testing because you have to meet certain conditions to be tested at all. There were no indications – no genetic diseases in the family. And the medical history was extremely extensive – Misia submitted about 40 pages of documents. Education in the family, photos of the child. You have to describe several generations back. We were only tested because nothing came up in the metabolic tests.

The diagnosis came a month after the birth of Tymek, your second son. Were you not afraid to get pregnant again?

JACEK: We wondered many times whether we would have decided to have a second child had we known the diagnosis. We don’t know. But now we are very happy that Jacuś has a sibling.

MISIA: I think it’s great that Jacuś will have a friend. On the other hand, I worry about how not to wrong Tymek. Not to place too much responsibility on him and have him live in the shadow of his brother’s illness.

How were the test results communicated to you?

MISIA: Over the phone, during a walk with the boys. We had already called the institute to find out if they had our results, and we had been told that they did, but they couldn’t give them to us and we would get a call in a few weeks. Sooner, if the matter turned out to be urgent. And when an unknown number popped up on my display a few days after our conversation, I already knew it was bad.

The geneticist said she needed to give me all the information to refer us for further tests. She said that Jacuś has a gene defect and that it is connected with a genetic disease. She was in a hurry, so I only asked two questions: if he would talk and walk. And she said he wouldn’t. I wanted to ask her more about the disease, but she said it was best to write to other parents on Facebook because it is a rare disease.

JACEK: The advice about Facebook the geneticist gave us, though it seems ridiculous, was the best we got from her. Angelman syndrome has only been diagnosed since the 1980s, and there are few adults with the condition. The current diagnostics and support that children get cannot be compared to what was available 20, 30 years ago. So today’s children will probably grow into better functioning individuals. But we were confronted at first with rather gloomy information, old studies with pessimistic prognoses. It was only the information we read on Facebook that gave us a ray of hope.

How did you tell Jacek?

MISIA: After I finished talking to the geneticist, I burst into tears. I hugged Jacuś and kept apologising to him. Suddenly I saw my friend on the street. And I immediately nestled up to her. I cooled down and I thought that I’m not going to think about it now, but I had this persistent feeling that it was just impossible. The children had to be taken care of. At home, I made sure to have the best possible conditions for a conversation. I told Jacek that the geneticist had called, he sat and listened to me very carefully, asked about everything and finally said he didn’t believe it. We figured that it couldn’t get any worse. We cried nonstop for several days.

We started telling our family and closest friends about it, and through this constant repetition of the diagnosis, we came to believe it ourselves. I recover pretty quickly, move on, take action, seek therapy.

Aren’t you afraid that by doing so you are cutting yourself off from your emotions?

MISIA: After the final diagnosis, my despair was short-lived. We reached out to a psychologist at the Crisis Intervention Centre and they helped us get ourselves together emotionally. We talked about experiencing loss and grieving after imagining a healthy baby. It made me see that Jacek was at a different stage than I was. We have different defence systems. I am a natural activist and optimist. After such a big re-evaluation of life that occurs at the time of diagnosis, many things cease to matter. We enjoy what is joyful in a given moment three times more because there are many difficult emotions that accompany us on a daily basis. Everyday life became more dynamic, surprising, interesting.

JACEK: I don’t see the positives yet. I need a lot more time than Misia to work things out, to think them over. I was definitely in the grieving process and I think I still am. For now, I can say that I try to just live through this time, reflection comes when I feel stronger. This is when I try to pay attention to the positives, both the overall positives of this situation and the happy things in our day-to-day life.

When I first searched ‘Angelman syndrome’ in Google, what popped up was a dreadful term ‘happy puppet syndrome’. Did someone call Jacuś that?

MISIA: This name is now being abandoned, but unfortunately, many doctors still use it. Just a few days ago, this is how Jacuś’s eye doctor called him. I held back the tears. Children with Angelman syndrome, due to changes in the nervous system, walk on stiff legs and flap their arms. And they are usually smiling. But what parent would want their child to be called a puppet? I heard that when the diagnosis was made. But I prefer to think of my baby as an Angel. One reason is that this arm flapping resembles the flutter of wings, and the other is the association with the name of the discoverer of the syndrome.

You started looking for contact with other Angels’ parents. Did that help?

JACEK: Only when we met with them did it give us relief. The first parents we met were Poles living in Canada. During the video call, we saw their child riding a scooter. The child uses a tablet and talks abstractly about their emotions using alternative communication – this was good news for us. Then there was the opportunity to host a gathering for the Angels at our home. But I didn’t want that. I was afraid of meeting older kids.

MISIA: We met with the Angels in a larger group in Gdańsk. It also allowed me to look at my son as someone unique. I still haven’t sorted out how I perceive Jacuś and how I view him in the context of the disease. I realised it when I talked to other parents, who would say that they hated the disease or would never accept it. Some even said, “I didn’t like this child from the beginning”. I listened to it with horror. To me, it’s not like there’s Jacuś and he has an illness, as if he had a runny nose. It’s simply who he is. I know that certain difficulties, such as epilepsy and insomnia, are part of the disease, because he takes medication for it. But there are other aspects, like the fact that he needs closeness, he hugs a lot and laughs a lot. When I look at him, it’s not Angelman, it’s him. Parents say that people marvel at their children on the street. ‘How cheerful he is, how tightly he hugs’ – and the parent says gloomily, ‘He’s smiling because he’s sick’. But I think to myself that he’s wonderful, he has admiration for life and an unconfined joy of existence. We often talk about gene therapy, which we are waiting for and which we can hope will be available in a few years. Jacuś would be given medication to help him develop faster. Many parents ask about what will happen to their child’s character, whether it would change. This causes anxiety. I too think about what kind of person he would become if this filter of illness was taken off.

Together with Jacuś’s grandmother, you run a Facebook page called “My Silent Angel”. It caught my attention because the narrative about the disease is very different from what we’re used to. It doesn’t shock with suffering. Instead, it attempts to tame this world.

MISIA: We want to show how you can get used to disability and make it more present in the society. I have a great sense of purpose about it, it is a kind of mission for me. We considered Jacuś to be a healthy child for a long time. I remember vividly that state when disability was something strange to me, when it made me feel embarrassed and guilty. When I was passing people with disabilities, I would cast my eyes down. I want to be a normal mother and normalise children with Angelman syndrome because no one will do it for us. Now I’m on the other side of it, and I have the right to look disability straight in the eye. I want to show it very truthfully, with its difficulties, sorrows, uniqueness, and, at the same time, ordinariness. If we, as caregivers of children with disabilities reach out to the world, it will be easier for the world to reach out to us. And I believe people want to help, they want to listen, they want to know.

I don’t like the rhetoric based on compassion and suffering that many sites like this represent. Facebook, while incredibly superficial, is nonetheless accessible, casual, ordinary. There are ‘normal’ people there, and I want to be among them, because I’m terribly afraid of being pushed into invisibility that comes with disability. That we will get ourselves entangled in it.

What else are you afraid of in the future?

JACEK: We try not to go too far ahead with our plans. Now, Jacuś is a sweet little boy. I don’t know what it will be like when he becomes a teenager or a grown man.

MISIA: Life before the diagnosis, from my current perspective, was like a bubble that had burst. I saw the future in dark colours, so we promised to ourselves to focus only on the present. I try to look at Jacuś as my teacher. He perceives the world mainly through his senses and emotions.

He needs a firm grip, constant physical contact with another person. Then he feels safe.

He loves to be enveloped by something, which is why he finds water soothing. He loves light, music and vibrations. When we were in the Sculpture Garden, he would hug them to feel their vibrations. As an artist, I try to look at the world through his sensitivity.

Do you have plans to travel to Italy together?

JACEK: Luckily, we currently have both Italy and the Netherlands at home. Raising each of them brings different challenges. The fact that they are so different will make our life fuller.

 

Author: Agata Komosa-Styczeń

Photo: family photo

The text was published in „Wysokie Obcasy” a magazine of „Gazeta Wyborcza” on 26 February 2022