Vita was born in August 2013. She is our 5th child. During the pregnancy, I had a strange feeling that something was wrong, but in all the appointments doctors always reassured that everything was fine.

The day she was born she didn’t latch immediately, as any newborn will, and the placenta took very long to afterbirth. The day after, her face was so swollen that I could barely see her eyes. She looked like a boxer after a match. I was wondering if she had Down Syndrome because her eyes were almond shaped and completely dark. The day following, she was still unable to latch and losing a lot of weight. We decided to start feeding her with bottle and formula because it was easier to suck and we could check the amount of milk she swallowed.

After this rough start, she began developing. She was able to breastfeed, her face was back to normal and everything seemed okay. After few months, I began to worry because she was unable to roll or sit, but our doctor still reassured me saying she was lazy. Deep in my heart I knew something was wrong but nobody seemed to listen. We she was 1 year old our pediatrician finally agreed that it wasn’t normal to just lay down and we started searching for a diagnosis.

We went to a neonatologist that prescribed a magnetic resonance. Her cerebellum was lightly swollen and he sent us to a neurosurgeon guessing it could be ‘Arnold Chiari Syndrome’. The specialist told us that was not the answer. So we went to genetic testing and the results took months. She was eventually diagnosed with 4 variations that they labeled as ‘uncertain meaning’. One was inherited by me, two by her father and a ‘De Novo’ that was GRIN2A. They said that maybe all the insignificant variations joined together resulted in her delays. So we were left without a real diagnosis. The years went by and she was unable to walk and talk. She only learned to move with a bottom shuffle on the ground and to scream to call for attention or need.

While in kindergarten, although very lovely baby, she started biting her mates. We thought she was frustrated for being non-verbal and we started with alternative and augmented communication. Things got better. She had speech and motor therapy and osteopathic treatments. Little by little she was able to walk, even if in a clumsy way, and to speak few words. Still we didn’t have a diagnosis and, because of that, little access to therapy and care.

Then a ‘miracle’ happened! To cut a long story short, we wrote to Prof. Ballabio of Telethon (an organization that works with rare patients) and he sent us to Prof. Brunetti who finally gave us the diagnosis. It was the GRIN2A mutation that brought on Vita’s issues. We were relieved to know what it was, that it wasn’t a neurodegenerative or mortal illness. We started searching on the web and we found a Unique Charity brochure on GRIN2A and a FB group of GRIN2A parents. We could get in contact with them and felt less alone.

Since then Vita has kept improving and we feel blessed.

Now she walks, runs a little, talks quite fluently and, most importantly, she never had seizures. This was our journey on the clinical side. On the ‘real life’ side we feel so blessed to have her. She made us understand people way better. We discovered that when facing an handicapped person people can be either disgusting or very careful and friendly. We were judged because we didn’t abort her (and even if we could have a diagnosis in pregnancy abortion would never be a choice for me), but we have also been helped a lot from people we did not expect.

Most of all we are blessed because she is a ray of light. She is stubborn and sometimes hard to handle, but she can say ‘I love you’ a thousand times a day. She runs to us and tells us ‘I missed you so much’ even if you were in the kitchen and she was in the living room. She is the purest soul I’ve ever met. She made us change our perspective about life and we live much better than before, because we’ve been tough to rely on faith and hope, that we can’t change our destiny but that we can live happily with all the love that, thanks to her, surround us.