Chloe was born in Germany on 8/9/2018. We are Italians and had moved to Germany for work. The arrival of Chloe was calm and without signs of anomalies but as the first three months passed, I knew that there was something wrong. Chloe’s development was slow and I expressed my first concerns to my family. Seeing Chloe in perfect health, they reassured me and told me that I was only a little anxious. Our little girl had monthly checks by the pediatrician who did not express worry. The months passed and when Chloe reached five months old the fear inside me that there was something wrong was not extinguished. Together with my now perplexed husband, we took my daughter to the pediatrician. I showed him my fears about what was wrong with Chloe because she had not reached any of her milestones up to that stage. The pediatrician placed her on the examination table and began a thorough check and at the end confirmed in detail everything I had noticed.

The pediatrician immediately prescribed a first hospitalization and from there the ordeal began: the fear, the shortness of breath, because by now everyone confirmed that Chloe was not well but at the moment no one understood why. Chloe underwent about 20 days of hospitalization in two different hospitals. She was subjected to all the radiological tests and no abnormalities were detected. At the end of February 2019, they were about to discharge us without a diagnosis. I was angry and I could not accept to leave without knowing—it was not right for my little girl. I shouted and I swore that I would not move from there until I had a diagnosis and so they conducted a genetic test on Chloe.

The diagnosis arrived after three months on May 23, 2019 with the result that Chloe was affected by a c.1655C> G – (Pro552Arg) variant GRIN2A genetic mutation. Our path of physiotherapy, osteopathy, visual therapy began and Chloe also has speech therapy now. At 23 months, Chloe has unfortunately not yet reached her developmental milestones. She does not maintain herself, she does not support her head, she has no control over her body, she does not speak, she does not grasp objects, she does not interact, she does not stare at things or people, she does not walk. We are afraid because unfortunately when we ask the thousand questions we have to various medical specialists they have no answers for us about the present and above all about the future. It is very frightening. We have another six-year-old girl who every day asks us questions that we cannot answer and it is very hard.

Our life has changed. Now we have a thousand fears, a thousand uncertainties, and often we are afraid of making mistakes and not doing enough. We dream for the moment when our little girl can give us a caress or run to meet us. We dream that one day she can see us and see how much love we have for her. Chloe is a fantastic and strong girl, always cheerful and serene. She has many problems but she faces them with strength, without ever getting tired of a full and super busy life between various visits and therapies. She always has a smile that fills our heart. It’s easy because you live the days holding onto hope because you can’t know how far you can go if you don’t live it. But we have faith—she is a gift from GOD and in our hearts we know that we will reach important goals. My little girl is simply special.