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)

    

 

Social media and being rare, a good match

“It is a hype, it will be blown away by itself, it is a ‘dot-com bubble “. I get a bit tired of those remarks on social media, but I do recognize them as well. I heard them before: at the end of the nineties about internet. I went online in 1995, now in 2010 I am totally into social media. And still I think that especially internet and all new possibilities – like social media – are a tremendous aid for rare disorders and diseases.

Back in time, web 1.0

In December 1995 internet arrives in the Jongman-van Betuw home. The first e-mails with the USA and Canada are being exchanged. I feel ‘flabbergasted’. We send information via e-mail about rare chromosomal disorders on the long arm of chromosome 11 (=11q) and I think “wow, this is fast”. I also think ‘update my English’, because in April 1996 I visit the very first ’11q’ conference, in Dallas USA. This has been agreed by telephone and through e-mail (!) with the organisors. For the first time I meet children with a similar disorder as our daughter.

My Canadian internetfriend Stephanie St-Pierre starts a homepage on ’11:22′ , later the chromosome 22 network. She mails: why don’t you start a homepage too? Me? From my husband (credit where credit is due) I receive the book ‘Beginnen met zelf World Wide Webpagina’s maken’  (The complete Idiot’s Guide to Creating an HTML Web Page) and I start. Januari 1997 the first homepage of our European Chromosome 11q Network is online.

We are not the only ones. During the next years all over on the web networks for rare disorders and diseases are being set up: big, small, for a child, for a big group, in many languages but more and more at least in English; it is a patchwork. Thanks to the internet we find and meet faster and better than in earlier days. Very striking: especially rare disorders and diseases go international, country borders are often too limited.

Summer 1998, the first conferecne of the European 11q network in Lunteren/Ede (Netherlands), agreable close to home. Afterwords we move the conference to Germany; in autumn 2009 the sixth conference is organised there. We know that most ‘new parents’ find us via internet. The homepage is now called website and has been updated many times. An Italian father and his brother-in-law keep it updated. The network can also be found on Facebook and has a lot of international contacts to other networks: online, offline, IRL. I am not active anymore since some years.

Web 2.0, social media

But blood is thicker than water and I give one more presentation about the impact of a small parental network at the Eurordis Conference in May 2010 in Krakov, Poland. I think the ‘parallell’ workshop on online patient networking is equally important. It fits the workshops social media, which I am now presenting in the Netherlands.
My presentation is called Taking part in the online evolution. It is a blink to the online revolution, the YouTube movie. I choose this title, because this is what organisations for rare disorders and diseases do, there is an evolution going on, they adapt (survival of the fittest). They use the possibilities of the internet, chaotic, structured, everyone in his own way. Search for yourself, you will find rare disorders and diseases on Flickr, Youtube, LinkedIn, blogs, locally, international.

A strong example is Unique. With their permission I presented these figures (May 2010):

>7300 members, 77 countries
—Hard copy magazine posted
to >3570 member families—
Electronic copy emailed to nearly 3000—
Discussion forum website 2500 members—
3658 fans on Facebook, 50 new fans per week—
1200 – 1500 visitors to Facebook page each week—
130 followers on Twitter—
>9000 unique visitors website per month—
A lot of new families are discovering Unique first through social networking sites eg Facebook

Towards the future

Did we use internet to find information and eachother, now there is an overload. You must learn how to search, you must understand how social media ‘work’ and English still is a problem. However: internet and social media are the future. Internet gave new possibilities, thanks to social media there are even more possibilities to find and meet. Moreover, finding is faster than ever.

My advice: it is an evolution. Join and share, add your own talents. Enjoy all the different cultures. And realise that the youth already is mobile and online.