Our association

Having a child with a rare disorder mostly means that you always will be looking at other children who can be comparable. This blog is about our associations and finding some explanation after 31 years.

Some months after her birth of our oldest daughter Geertje (Jongman) was diagnosed with a partial trisomy on the long arm of chromosome 11q (11q13.11>11q21.1). We really did not know what to expect, but we knew that her future would be very hard. She died in 2000, at age of 20,  giving all the best and known as the child with the ‘happy gene’. I still meet people who remember her laughs and big smiles.

This blog is not about her life, nor is it a semi-scientific article about findings. It is about associations that we had with other children, not knowing why.

In 1996 I joined the first ’11q’ conference ever in Dallas, USA. I said there ‘this is what I waited for for 15 years’. I was happy not being alone anymore in this very rare world, sharing infos and emotions with other parents.

My husband (Rob Jongman) and myself decided to start a European 11q network ourself in 1997 that is successfull until now. This weekend was the 7th conference in Pforzheim, Germany. Although we are not active any more and our daughter died nearly 11 years ago, we were there. We loved to meet our old friends and especially were interested in the presentation of Prof Dr Teresa Mattina who researched 11q children already a  long time now. She involves both children with a deletion on chromosome 11q (most of them having a terminal deletion, Jacobsen Syndrome), a partial trisomy and all kinds of variations in her research.

Back to the Dallas conference in 1996. Before joining this event, I contacted a Dutch geneticist about what to expect. He explained to me that although USA families decided to look for both children with a partial trisomy (11q+ we called that later) or a deletion (11q-), comparing it is like comparing chromosome 11 to chromosome 12. It would be an illusion.

My husband said: he does not know, hecannot say this as this has never been researched. So I decided to go to Dallas and finding not the same disorder but the closest. I certainly would learn from it.

In these 15 years we never found a child with the same disorder as our daughter. But we saw children with a different disorder on 11q who had some similarities, like stature, growth of the hair, art of playing or simply looking as niece and cousin. Totally about 4 resembled. And they all had a different chromosomal disorder on 11q.

Prof Dr Teresa showed us on 26th November 2011 some results. She will continue publishing. I was surprised to hear that children with an inversal partial trisomy (so the duplicated parts are in inversal order attached to eachother) probably will have a deletion. Dr Mattina told me some years ago that the feet or our daughter (we made some pictures before Geertje’s death) did not look the same as from other partial trisomy kids. So I was kind of warned that she might have had a deletion too. Yet, this message was ‘maybe maybe’ and now ‘most probably’.

I was suprised. Because know I understood the similarities from her with other children: there will some chromosomal connection. Our association just by looking at children seemed to be correct.

(more info about 11q: http://www.chromosome11.eu)

    

 

Reacties

  1. Joyce Schaper zegt:

    Mooi om te zien dat je nog zo met haar bezig bent! En respect voor de manier waarop je dit steeds weer naar buiten draagt. Prachtige foto’s trouwens,nu heeft haar naam voor mij ook een gezicht.:-)

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