Mother with a mission
We have an exceptional child – Stefano – with a very rare syndrome PWS.The Prader-Willi syndrome. This syndrome is quite complicated and the child is always hungry. What happened previously.
Everything that happened to me up till now made me stronger. I had to overcome many obstacles, grew up in a children’s home. My mother and a brother died young, and a married early. My greatest strength lies in my love for my children. They praised me. I am happy to have had 6 children. During my first marriage a have three full grown children, Bud 1982, Dwayne 1985, Kiona 1988.
From my second marriage with Stefan another three children: Ksenya* 2001, Shanya 2002, and Stefano 2003. I am married to a fantastic man, Stefan.
Ksenya; she started it all The day before our marriage we received the results of an amnioticentesis: Ksenya had an incurable illness.
We married the day after as we intended knowing that Ksenya would live till the following week. Indeed that was what happened. Just married and consulting with the undertaker about the funeral of your unborn child. This horrible experience started me thinking: why? When feeling sorrowful I need to write it off. I contacted various aid groups finally ending up with the national parents’ association. The story about Ksenya was entered in a information brochure about the Edwards syndrome, and that is how it all started. The story was published in a couple of magazines, and I was interviewed on TV. Our intention is to share our experiences with other parents but also to offer help if possible
After the loss of our child Stefan and I grew ever so much closer to each other. Within two months I was pregnant again, this time with our daughter Shanya.
Stefano was born a year and half later. I felt something was not right during my pregnancy even after a positive result of chorionic villus sampling. My feelings happened to be right. Stefano, the youngest of 6 children was born nine years ago with the Prader-Willi syndrome. ‘Well’, the clinical genetic said: ‘twice in the same family?’What next? After the diagnosis we cried, and hoped that he would stay alive, as we were not able to care for his stillborn sister.
Short summary of the Prader-Willi syndrome: The Prader-Willi syndrome is an affection where just a small part of chromosome 15 is effected. Through this a clinical picture developes which is characterized by weak muscles (hypotony), slowed down mental development (hypomenty), small genitals (hypogonadism), and obesitas as a result of an unstoppable appetite! Most patients develop psychiatric derangements among others psychosis at a later age.
Besides that people with the Prader-Willi syndrome do not grow much taller than 1.50 metres.
In The Netherlands some 5 to 10 children are born yearly with the Prader-Willi syndrome. Especially in the present-day society obesitas is a much occurring phenomena. Obesitas too is characteristic for the Prader-Willi syndrome; these children/adults are unfamiliar with a feeling of saturation. The younger generation of PWS children are generally slender: through discipline, good nutrition, and supervision/guidance very much can be achieved. I see it as my mission to broadcast knowledge about the syndrome of my son. Why? When your child has the Down syndrome all doors open up for you, because almost everyone knows what that syndrome means.
This is not so with PWS.
Stefano’s story has been published in regional newspapers and in one big national daily, in magazines, in a radio interview, and even reached the European Parliament. Not only locally but also far across the borders to the UK, the USA, Australia and Canada.
I will keep on with my mission in order that everybody will understand what PWS means. We, his parents, became quite expert in the field of the Prader-Willi Syndrome. Stefano is a great little man, and he is fortunate in it that his parents, brothers and sisters and the other family members love him so well.
He is a sunbeam in the house. That actually is the reason I wanted to have a website to tell my story.
The life of a special child, and how we as a family fit into the entire story.
In my websites I intend to give information about Stefano, healthy nutrition, publications about Stefano, scientific articles, weblog, and much, much more.
What else am I doing besides being a mother? In my daily life I am active in a large international health alliance. I am a member in the Prader-Willi/Angelman society, and recently member of the committee of the same. I am Ambassador of the Prader-Willi Fund, voluntary help in the FNV (Federative Trade Union) Tax service, and I am occupied with alternative medicine, such as foot reflexology. Right now I am following a course as food expert. All in all a very rich and busy life.I hope to meet you often on my website.