Saturday, March 2, 2013

Trisomy 2

Trisomy 2 Awareness Day, featuring Jip!  

Hi everyone, we are a family from Holland and we are the proud parents of two beautifull kids, our son Senne (4) and our daughter Jip, we were asked to tell our story for trisomy awareness month and offcourse we were very proud to tell some more about our daughter!

Jip's story
Here is the journey of our little girl Jip, she is born on the 27th of August 2011, she now is 18 months old. After a normal pregnancy ( i carried a very large quantity of amniotic fluid) she was born with polydactylie, this means she had extra fingers and toes and the doctor said to us she had a typpical face (wide spaced eyes, small chin) and that they suspected a syndrome, we were devestated...didn't expect this news about our beautyfull babygirl...We were refered to a genetics doctor and after a few months we got the results, Jip had a partial trisomy of chromosome 2, karyotype 2p 22.1 -24.3. This is a very rare chromosome disorder and as far as we know there is no one documented with this disorder, so nobody can tell us what to expect for the future. What we do know is that Jip has a bigger chance of developing a neuroblastoma because of the oncogene MYC-N at band 24.3, she gets tested every 3 months.

Her development is very delayed, so far she mist all milestones like rolling over an sit independantly, low muscletone and hypermobility, she does not talk and also eating is a problem for her. We get a lot of therapy to stimulate her, here at home and in a revalidation clinic where she will be joining a group when she gets two years. She is quite smalll for her age, only 17 pounds and 76 cm, but a pretty cute little thing! The most important of all is that she is a very happy girl who we love very much and we're proud that we were chosen to be her parents!

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