Debby wrote her story in 2006. She lives in The Netherlands.
My name is Debby. I am 28 years old and happily married to Benjamin. Last 2 years we have tried to become parents. May 2005 I miscarried after a pregnancy of 6 weeks. We regretted that, but we thought it was a freak of nature. May 2006 we found out I was 4 weeks pregnant. We were very excited and couldn’t wait to tell everybody about it. Unfortunately I had my second miscarriage in June, after a pregnancy of 10 weeks. This was very painful for us.
Chromosome analysis
Our gynaecologist requested to have our chromosomes analyzed. Just for precaution, to see if there was a genetic reason for the miscarriages. It took 3 months before we got the results. My husband’s chromosomes were fine, but I have a chromosome aberration. We got a short explanation. According to my chromosomes I am a “superwoman” (that’s how the gynaecologist called it). I appeared to have a 47,XXX chromosome pattern instead of the normal 46,XX. He could not tell me what that implied exactly. He told me to make an appointment at the genetic laboratory of the Erasmus Medical Centre in Rotterdam. We called to make that appointment, but had to wait 4 weeks before we could come.
Search on the internet
To gather more information about this subject, I searched the internet. With help from www.google.nl and www.erfelijkheid.nl (red.: a Dutch website about genetics) I came up with a lot of information.
Recognition
Together with my parents and my husband I have been reading a lot of information. My parents reacted to several charactereristics. For instance they recognized that I was a very quiet baby. I always was shy and I started to talk late. I did not speak until I was 2 years old. The doctor at the infant welfare centre wondered if my mother ever talked to me. I was potty trained very late and I had some delays at school. I don’t like to speak in groups, I am not assertive at all and suffer from fear of failure. Some things just take a bit longer, but when I can take the time I need, it all turns out fine.
Education
I don’t have a very high education. After elementary school I attended MAVO (secondary school for lower general education). After that I studied MTRO, a touristic training. It took me a lot of effort to do what I wanted to do, because both MAVO and MTRO took 5 years for me to graduate instead of the usual four years.
Sales employee
Nowadays I am a sales employee in a store for construction materials and I like that job very much. I tend to avoid awkward situations. But sometimes I have to face them and then I do so reluctantly. I informed my colleagues about this and they help me in these kind of situations.
Explanation genetic lab
Last week we went to the genetic lab. Fortunately they took a lot of time to explain everything to us. They gave us the explanation of a bookcase. They said to look at every cell in your body as a bookcase. In every normal bookcase you’ll find 46 books, but mine contains 47.
Having babies
The genetic counselor explained to us that we can have normal babies, just as every other couple can. Our chances of having a baby with for instance Down’s syndrome, is the same as for everybody else. But it could be a bit more difficult to get pregnant and have a child. We are entitled to have extra checkups. And they did not recommend Chorionic Villus Sampling (CVS), because of the higher risk of a miscarriage. They preferred amniocentesis.
Explanation
On one hand we now have an explanation for the miscarriages. And all the things my parents mentioned about my behavior as a child, fall into place. On the other hand I find it all very confusing, because I don’t know what future will have in mind for me.