Name Amélie Marlene Ivancsics
Gender Female
Diagnosis Distal 10q
Parents Richard and Marlene Ivancsics
City Kemeten, Burgenland, Austria
Email richard.ivancsics [at] gmx [dot] at
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January 22, 2012
Amélie was born in March of 2007. She is our second child, David (born on the 4th of August 2005) is healthy.

I gave birth to her 2 days before the calculated birthday. It was the second date we were given, because she was very small during the pregancy, and so the doctor thought we had to change the birthdate. The first date was the 19th of february. The Pregnancy went without any big problems. There was just one point of concern: Amélie was always too small, so I had to go to the doctor nearly every day, to watch her grow because the doctor was concerned that she wasn't getting enough essential nutrients through the umbilical cord.

During the pregnancy, Amélie had a lot of energy, she hit me very hard nearly all the time. So I couldn't believe she would be weak because of her weight and length. The delivering was very hard for me and her. I felt it lasted very long and Amélie didn`t turn in my belly, so finally I got a PDA.

Amélie had a length about 48 cm and a weight about 2,58 kg. She had a microcephalus with an amount of 30,5 cm. With her copper red hair she was a little sensation in the hospital.

To feed her by breast was not possible, her tongue was always on the roof of her mouth. She bit into my breast, it seemed as if her sucking reflex wasn't mature enough. I felt very sad about that. When she was two weeks old, Amélie got an infection, and didn't drink for days. We were worried, it was horrible.

Because of this incident and the weak sucking reflex I gave her a baby bottle and cut a bigger hole, so the milk could flow into her mouth. A big problem for me and my family was her behaving like an infant with colic. Her microsomia is a concern obviously. Amélie had serious spasms when she was a baby - she stopped breathing got blue and salivated foam. Later she was very abusive to herself. It has gotten better. There have been fantastic stories with her: she hit her head on the stairs, just because I couldn't take her up during cooking; she jumped out of the high baby bed and landed on her nose...

Now she scratches herself, so I put a plaster on the wounds so she stops scratching till it is healed. It is okay for us, we are very relieved she doesn't hurt herself worse.

In August of 2010 we got a diagnosis: it is a fractional trisomy 10q. It was a very hard time, and her version of the syndrome is the only one documented in the world.

In January of 2012 Amélie looks like a two and a half to 3 year old girl and talks like a child of that age. She is able to learn and get to know things. In cognition it seems at this moment as if it is a benign disease. Her chewing motion is better now. She is moving very well - going up stairs is a bit hard because of her shortness. Amélie is able to take her clothes off, she can put her clothes on with help (tights are especially a big problem). She has had a baby doll called Jimmy since she was 2 years old. She cares for him very well and when she is a grown-up she has just one wish: To be "Amélie-Mama" of Jimmy.

Nice greetings & Bye,