Statistics is nothing but a number, right? I used to be pretty big on stats and reading things into numbers. But not anymore… With Vincent I am convinced that no matter what others may think, I still believe I have won the genetic lottery. The odds were always on “our” side, but he kept fighting and pulled through – Thank God he did, my little amazing prince. But it was:
1/870 for our age group to have a child with DS – got that
1/120 in our case (blood test result) – got that
3-4/100 that he had Translocationaltrisomy 21 – got that
So stats are stats, but someone has to be the one with the small chances. It is us. And also, thank God, he is working against the odds medically. He is doing great and so far has none of the typical medical problems related to DS/T21…
So yesterday we had our appointment for the genetic testing, and also a consultation session with the genetic specialist. The Translocationaltrisomy 21 means that he of course has 3 of chromosome 21 (that is with all forms of DS), and the 3d 21st chromosome is attached to either chromosome 13,14,15,21 or 22 (this is also known as the Robertsonian Trisomy). Most common is to have the extra attached to chromosome 13 or 14. So again, we guessed (which I from now on will stop doing as I obviously get it wrong every time) that he had one of those. Wrong. Prince Vince 3d 21st is sitting on the 21st chromosome.
I do realize how confusing this is to understand, I am struggling with all the genetics, DNA etc myself, but I actually find it very interesting now. Anyways, the 3d 21st on the 21st is in our case the “worst” scenario. For Vincent it does not make a difference, but for us it does. One step backwards: when the sperm meets the egg each has 23 chromosomes (normally) and they connect and make an embryo with 23 chromosome pairs or 46 chromosomes. If it happens that Bookie or me is a carrier (which basically means that one of us is carrying 2 21 chromosomes instead of one – two that are connected or grown together, we are so called balanced carriers. This is what the blood test will show. If one of us are carriers, it is a 100% sure thing that if we have more babies they will also have DS. No if, buts, hows or whys, that is just how the genetic deal works. This form of Translocationaltrisomy is the most uncommon (bingo again) form. According to the Dr yesterday, it is very unlikely that we are carriers – but that is just according to statistics. When the 3d 21st is sitting on the 21st chromosome it is a 99.5% likelihood that it is just nature playing a trick on us, and this has nothing to do with inheritance. It will take approx 4 weeks to get the results. All we can do now is to wait and see. Good thing that we already have won the highest price with having Prince Vince with us!
Filed under: Down Syndrome, Robertsonian Trisomy, Translocation Trisomy 21 |
Prince Vince Meets the World 
Sheena has translocation 21/14. We have felt very overwhelmed with the stats too. When they were doing the test to see if Sheena had DS, we were hoping on mosaic, but then she had the translocation – which is also very rare. We know another DS baby with a 21/21 translocation, and she has 3 other regular kids. It is very rare however. Sheena’s Pead said that outcomes of translocation kids with DS are sometimes better. He doesn’t have any proof, but it is just from his personal experience. Sheena has had the epilepsy too, which held her back, but now that it is controlled we’re hoping that she’ll start proving the Pead right.
Hi!
Did you ever get your results back from your genetic testing? We went thru the same thing with Lauren who has translocation DS. You can email me privately. Love your blog by the way!
I have the small stats too!I had Kendall at 16 years of age,she was born with trisomy 21 and at that time it was reasoned that I had 1/1,000,000 chances of someone in my age bracket having a child with DS.
i am so sorry for what you have went thourgh
Hi there prince vince –
you have a new buddy 🙂 May I introduce you to Benjamin (see http://ml22.blogspot.com) with transloc 21; 21. We just started the blog on January 1st 2009, so there’s not much to see yet – well, Ben was just born four months ago – and we didn’t know before about his little secret. So there he is..
greets,
martin
Hi Vince’s Mom,
I was researching robertonian translocation 21;21 and came across your interesting blog. Vince is adorable! Our son, Alain, is two and a half and also has this rare translocation according to his genetic report so we are members of a very rare club. I often feel very much like you do that we are winners of some sort of genetic lottery. Very glad to have found you.
Shirley
Richmond Hill, Ontario
Canada
[…] Vincent has Translocation Trisomy 21 […]
I would like to be in contact with other parents of Down Syndorme children with the 21/21 translocation (isochromosome). I have a 22 year old son with that rarer configuration of the chromosomes. He has a facebook page if you would like to check us out. He is an absolutely wonderful boy. His name is Jason Shea from Erie, PA. I am his mother, Nancy Shea.
[…] Vincent has Translocation Trisomy 21 […]