|Diagnosis||Inversial duplication 10q24.33-26.3 and duplication 15q26.3|
|Parents||Simone Schubert and Dominique Schmitt|
|monenews [at] web [dot] de|
The first concern began when after the 20th week of my pregnancy with her, she was constantly too small on the ultrasound. We were thoroughly checked but everything seemed ok. Although we knew that some kind of syndrome could be the reason for her growth retardation, the high stress level at my work seemed to be the much more reasonable explanation and since she grew steadily, we didn’t worry too much.
Camilla was born twelve days overdue with a light but normal weight and size (50cm = 19.7 inch and 3 kg = 6.6 pound). The birth was quick and relatively easy, she breathed right afterwards and did not need any medical help. Although she was so late, she looked like she was born early, not much: just like one or two weeks.
Her looks were not alarming (she was not especially pretty either, but we didn’t see that of course!). She had some red hair just like her older brother and – what we thought – swollen eyes. The only thing everyone thought to be remarkable were her very long, thin feet. In one check the doctors noticed a heart murmur, which was diagnosed as two small VSD, not to be worried but checked later. We went home from the hospital very happily after three days.
In the following two weeks we were congratulation ourselves constantly to our easygoing, relaxed and quiet child. Camilla nearly never screamed or cried, she slept most of the day and almost all night. She took her time in breastfeeding, but that was ok.
It was my mother, a physical therapist, who tipped us off and we started to wonder if Camilla’s eyes, her feet and her behavior were “normal”. We hoped to be calmed down at the regular check at the pediatrician – but the opposite happened. The diagnosis of a down syndrome was written in Camilla’s file. Although this turned out to be a strange coincidental mix-up of files, we were even more alarmed and demanded a genetic test.
One week later, the first results came out: No classical trisomy but some extra material on chromosome 10. First we were relieved until I searched the internet and found this website here. In an instant, I simply knew that partial trisomy 10q is exactly what Camilla has. I saw pictures of children (including Jess!) who resemble her more than her brother does. But we had to go through another eight weeks of waiting, first of the results of our own blood tests and later for the results of the array-test. (Which, by the way, showed another, very small duplication on chromosome 15 – what this might mean, especially in combination with the partial trisomy, is a mystery.).
During those long weeks were days of hope and days of despair, the worst being those when she would not look at me, not get into any contact except for skin-contact, which she obviously enjoyed very much. Her brother had been the opposite – very eager for interaction from his first day – so waiting for her first smile was the hardest test so long. But she did smile with eight weeks and her social interaction has intensified ever since.
We started physical therapy (the methods of Bobath and Castillo Morales) very early since she had an extreme asymmetrical posture and definitely a low tonus. From what we see, she reacts very well on this kind of furthering and makes progresses by the week.
What we can say at this moment, is that Camilla is a very sweet, good natured and quiet child. She loves the contact to the people around her (laying on their arm and “talking” with them very animatedly and persistently) and she loves toys hanging above her head. She turns for things, light and lately for voices, she is starting to grip things, moving them to her mouth. She puts her feet in her mouth and has just achieved to roll over onto her belly. So far she is just like any child her age. But she has difficulties holding her pacifier although she loves it and her biggest weakness so far is her tonus in her back. She just started to hold her head up.
Physically, she looks slightly different than other kids. She is always estimated younger than she is (she still appears more like a newborn than a baby) and her looks haven’t changed much during the last weeks. She is growing very fast in length (12 cm within 12 weeks), gaining weight a bit more slowly (1.8 kg within 12 weeks), so she is kind of slender. Her toes and also her fingers are very long and slender too (which looks funny at her feet and pretty at her hands). Her eyes are fully open, but she has epicanthic folds. Her VSD has closed and ultrasound has not shown any kidney anomalies. Her voice is not very loud and there were times when she sounded a bit like a kitten.
Now that we know of her partial trisomy, we can see her for what she is: a lovely child blessed with a sweet calmness – which is a quality that our family lacked before Camilla’s arrival. We openly told all our friends, colleagues and relatives about her syndrome and have received the most touching and caring reactions one can imagine and wish for. For now we can say that Camilla is of course not the daughter we once imagined, but she definitely makes our live very rich with love.