Thomas’s mother’s journey to acceptance

We are visiting Thomas and his mum at their home to learn about their experiences at the hospital following Thomas’s birth. Thomas, now 18 months old, plays on the floor, pulling himself up to a standing position by the sofa. He is eager to say hello to us as his mother speaks.  

– I didn’t realize anything was wrong, apart from a heart defect discovered during the pregnancy. I was supposed to give birth at a different hospital but was referred to this one due to his heart condition. They did numerous exams and tests, including amniotic fluid and blood tests, but everything appeared fine. The tests did not reveal CHARGE syndrome, and I don’t believe they specifically checked for it.

Thomas’s birth was normal, and he was born full-term without complications. However, he was immediately brought to the inten​sive care unit because of the heart defect. They had done ultra​sounds monthly at the hospital and everything else seemed fine.

The day after Thomas's birth, his mother visited the intensive care unit where Thomas was lying in a respirator. When asked, the doctors didn’t give any straight answers, only mentioning that Thomas was struggling to breathe.  

– I assumed it was because of his heart condition, she says. I thought it would be a matter of a few days before he recovered. But then there was more… They said that he couldn’t swallow. He was doing very poorly at the beginning with breathing and swallowing. He had acid reflux, and all the food just came back up again. They inserted a PEG tube, and he was no longer fed orally. They did try, but it just didn’t work.

After a couple of weeks at the hospital, Thomas was diagnosed with CHARGE syndrome.  

– I had never heard of CHARGE before, Thomas’s mother remembers. I thought: “What on earth is that?” I didn’t want to believe it. It was very hard. I just thought: “It’s not possible! There can’t be so many things wrong with you.”

”I didn’t want to believe it. It was very hard. I just thought: ’It’s not possible! There can’t be so many things wrong with you’.”

Thomas' parents didn’t know anyone who had a child with special needs or suffering from severe illness. The doctors explained the diagnosis, that he might not be able to see, hear, or swallow, and he had problems breathing.

– This was too much for me, explains Thomas’s mother. It was like a surreal, painful dream. I heard what they said, but deep inside I didn’t want to believe it. I just hoped that they had made a mistake.  

They learned that Thomas might not be able to do as much as a normal, healthy child. Maybe he would struggle with speech, vision, and hearing and his brain could be affected, and maybe it would take years for him to learn to walk and to develop strong legs. 

– The only thing I heard was, “He can’t do this, he can’t do that, he’s never going to be normal, like other children. He will be dependent on help for the rest of his life”. That’s not what I wanted. I wanted him to manage fine, right?

Thomas’s mother was in a state of shock, and the doctors only focused on the negative aspects. 

”Thomas’s mother was in a state of shock, and the doctors only focused on the negative aspects.”

– I couldn’t believe any of it. 

Thomas’s mother wished that the doctors had told her everything gradually, bit by bit. 

– It felt like an explosion, a bomb of information! I don’t know if they could have handled it differently. They had an important message, of course, but for me, it was just too much at once.  

She took some time to think for herself, to call her sister, and to cry. She just hoped that Thomas would get well. That he would not be in pain or discomfort. But when she looked at him, lying in intensive care for a long time already, struggling to breathe, she realised that it was all true.  

From that point, she began to accept that this was a part of him, and it was not something he would recover from. He will have to live with the syndrome for the rest of his life. 

– In the beginning, time moved very slowly, but gradually I began to accept that he for real was quite ill.  

”In the beginning, time moved very slowly, but gradually I began to accept that he for real was quite ill.”

Thomas's mother wanted to find a place where she could talk with someone who would understand her and who knew what CHARGE syndrome was. There wasn’t much information online, but then she found a Facebook group where members share their experiences, write, and publish pictures and videos. This has been a great support for her. People also gave positive information; they showed how some children with CHARGE syndrome thrive in education and work. In a global group, there are members from many different countries all over the world. Many of them have children born around the same year as Thomas.

– At the hospital, as soon as they made the diagnosis, they put Thomas in a category, you know. I don’t think that’s right because he is so much more than the syndrome.

Knowing more, Thomas’s mother reflects on the advice she would give herself if she could go back in time to right after birth.

– I would say, don’t panic! Back then, I really didn’t believe that I would ever see all the things he is capable of doing now. He does do so many things, small things that count a lot! Even though he has serious difficulties, his personality, and the things he does make me very happy and proud, she says.

– Acceptance is crucial. I would advise myself to accept it early; then everything will be all right.  

A constant worry is that children with CHARGE syndrome, aside from motoric problems, often are ill, and they frequently end up in hospital. 

– If Thomas catches a cold he might have to go to the hospital. I hope this can change, that his immune system gets stronger, and that he won’t have to be so ill.

Thomas once got very ill with a new infection. Seeing him lying there with such a high fever, wasn’t easy, Thomas’s mother recalls. Managing such a high fever is challenging for anyone, but especially for babies. 

– Why are they supposed to go through this? What have they done? Why can’t they be allowed to be like all the others, enjoy themselves, and just be babies? asks Thomas’s mother.

Now she sincerely hopes that the future brings Thomas a lot of joy. 

– All we can do now is wait and see what the future holds. 

– Eventually, he will learn to walk and maybe pick up sign language, she says while Thomas is playing on the floor, smiling, and babbling just like other babies of his age.