Rett Syndrome: Happiness, a mother’s greatest gift
“Agathe was born when I was 43, it was the best gift,” says Martine. At 21 months, Agathe’s health began to deteriorate. “Her development was slow but she was my first child and I didn’t notice at first,” Martine explains. Agathe was no longer responding to her name so underwent hearing tests. A specialist suggested rehabilitation. Martine couldn’t understand why a two-year old child would need rehabilitation and worried that her lack of experience was the cause. In fact, there was no problem with her hearing and so began a stressful series of tests.It was clear that something was seriously wrong. Martine explains, “Agathe would scream all day, bang her head on the floor, wouldn’t sleep, couldn’t be calmed. It was hell and we had no diagnosis.”
In Budapest, Danijela was experiencing a similar situation with her daughter Eszter. At around 20 months Eszter began to show clear signs of regression. Although she had learnt to walk, she was dangerously unstable. She was displaying autistic like behaviour and developing stereotypic hand movements. Like Agathe, Eszter underwent tests but no diagnosis was forthcoming.“I came back from the hospital one day and told my husband that I hated doctors and the tests,” says Danijela, “I just wanted to be home with my child and didn’t care what was wrong with her. Till then, he thought I was a paranoid mother and the problem was me not her.” He googled ‘hand stereotypes’ and Rett syndrome appeared as the first option. “We knew as soon as we began reading that we had found our diagnosis”.
Rett syndrome (RTT) is a severe neurodevelopmental disorder primarily affecting girls.
Martine also found the elusive diagnosis by chance, on the Internet, when Agathe was six years old. She immediately joined the Association Francaise du Syndrome de Rett and was on the Board of Directors until May 2011 and is now secretary of Rett Syndrome Europe.
She has since given up her high-pressured professional job to devote her energy to the association and the welfare of Agathe who attends a school for children with multiple disabilities. “Her father and I separated. I am grateful for the support I get from the association. It is important for parents of children with rare diseases to work together and to create a constructive dialogue with those who care for our children, the institutions, the politicians,” explains Martine.
In Budapest Danijela was also making life-changing decisions. A few weeks before Eszter’s RTT diagnosis was confirmed, Danijela discovered that she had a tumour on her gall bladder. Danijela says, “It was then I made a decision. I wanted to be there for Eszter. I did not want to be miserable. I was going to be happy and enjoy my beautiful girl.”
Danijela became involved with the Hungarian Rett Syndrome Foundation and joined the board in 2009. “ I knew nothing about patient organisations and what was involved, nor did any one else on the board.” Despite her own personal difficulties, including the death of a baby son, Danijela agreed to become chairwoman and set about trying to save the Foundation. The event that most encouraged her to persevere was the EURORDIS Summer School in Barcelona.
‘I have become stronger, more motivated, more concentrated on the present and on the things that really matter, thanks to Eszter. I have made some special and unexpected friendships. I would love her future to be brighter, so my priority is to encourage research into drug therapies,” states Danijela.
Martine echoes these sentiments saying, “we have a duty to our children, and that is to be happy.”
This article was first published in the February 2012 issue of the EURORDIS newsletter
Author: Irene Palko
Photo credits: © Martine Gaudy / Danijela Vlajic
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