Veni, vidi, vici by Juli(us)a SPECKMOSER

I came; I saw; I was conquered by the feeling that my one year old brother Manuel, my beloved mom and dad do not know who I am. I am Julia, 3 years old from Austria. I have distal 18q- as a mosaic. Nature tried to create a new and better human being by using the method of “Try and Error”. Try; I miss about 91 genes on chromosome 18 on the longer “q” arm including the TCF4 gene, which says; I life with the Pitt Hopkins Syndrome. Error; I am now 38 month of age and cannot walk or speak, I find it hard to communicate with my family and sometimes when I like to say it is enough, I bite.

And then came Rome, the entire city with all her history and the will to create a new and better world. Here we took part at the “Chromosome 18 Europe conference”, which was brilliant organised (including my potty on the room) and was very useful to my family. Manuel and I spend good times at the crèche, while mom and dad were listening to the lectures of the conference. All four of us had lots of fun staying at the pool, swimming and meeting all the other families. I guess, the most powerful moment to mom and dad was the part, when the young adults told about their lives and their experiences. That was the kick; mom and dad needed to understand who I am and who I will be.

We also visited places in Rome where lots of sweating people, took lots of pictures of really old stones and buildings.

I speak in the name of mom, dad and Manuel, when I say; THANK YOU SO MUCH FOR ALL YOU GAVE TO US. The team of Chromosome 18 Europe made it happen. And thanks to the research team in San Antonio, Texas – you made it happen that our blood is part of your research.

See you all next time!