Nora is a very brave four-year-old girl. She teaches us to live from day to day and to make the most of all her progress during the moments she spends with us and her 9-year-old older sister. Nora is unique in all aspects of her. She loves to dance, play with dolls and laugh a lot. She is happy! She is a very loving and nice girl! We fully trust all the research that is being carried out on TANGO2. We know that there are professionals full of intuition working daily to find a treatment for our little heroes and that is why it is important to support the research. Thanks, with all my heart.
When Nora was born, we never imagined that such a special child would come to us! The first months of her life were completely normal. She only had a slight psychomotor delay to which no doctor gave importance... But when Nora was about 8 months old, she started having a parkinsonian tremor in her neck and then we knew something strange was happening to her.
Once this symptom passed, everything returned to normal, although in my heart the intuition that something strange was happening was already emerging.
During the following months and up to two years, she had two minor falls that triggered a fatigue attack with lethargy and excessive sleepiness that required hospitalization as she spent up to 4 days without waking up. At two years old she started with her first major movement disorder attack in the form of torticollis and her neck and head tilted up in a very strange way. That's when we realized that she was really sick.
Subsequently, these movement disorders recurred in different ways. Her neck turned up, her body leaned sideways, her legs became stiff, and there was instability as if she was dizzy and unable to walk. All these symptoms disappeared with time. She would rest and sleep and wake up again as a completely happy and normal child.
So, I had to record many videos of her to be able to show these disorders to the doctors since it was difficult for them to understand what we told them. They were as surprised as we were by everything. All the tests that she had done up to that point came out fine and unaltered (MRI, cerebral computed tomography, lumbar punctures, metabolic analyses, evoked hearing and sight potentials, electroencephalograms, etc.).
It was then that they began to study her genetics. It was there that it was discovered that there was a deletion in the TANGO2 gene on her maternal and paternal side, which is why she suffered from this rare recessive genetic disease.
We would never have imagined that Nora would have such a serious illness since she is a very active and happy girl despite a psychomotor and language delay.