We are Deborah, Davide and Thomas, our lively 6 years old child born by caesarean delivery at the 39th week.

We felt on top of the world when we found out we were going to be parents, the pregnancy went on peacefully until the 7th month when, suddenly, the morphological scan showed a dark spot on the head. We got an MRI done and the sentence was crushing, a cerebral hemorrhage.

The result was a right hemiparesis, we were told that he would have never walked on his own, it was a blow to the heart.

He was 10 days old when the therapy begun.

At 9 month of age the first seizure, another blow to the heart.

At 15 month of age we enrolled Thomas in the day care, we were excited and happy because on Monday it would have begun this new experience and at the same time mom found a job and she got a part time contract that allowed us to balance everything.

It all looked perfect, finally, after all this time, something seemed to turn for the better.

But the buckets of cold water never end.

On Saturday evening mom Deborah felt pain on her torso and left arm, I called an ambulance, after the ecg they told us that it was all ok and that we could not think it was an heart attack because she was only 40, that she had only a little cold, she had to take Tylenol, they said, and it would be all right.

But that was not the case!

The pain kept going, she went to the emergency department alone in the middle of the night, she didn’t want us to accompany her because she thought that the fault for that pain was a chill.

The next day the pain was continuous and stronger and stronger.

Finally her turn arrived, she was dead tired and full of pain. The doctor looked at the exams and he immediately sent her to the cardiologist.

She was put in intensive care, acute myopericarditis with healthy coronary, but after the RM the outcome was HEART ATTACK.

Our lives turned upside down once again.

Only when Thomas was 3 years old we found out that it had all been caused by this rare disease, a variant of the gene COL4A1.

From the genetic exam another truth emerges.

This rare disease was transmitted from mom Deborah, so she has that disease too, and the cerebral hemorrhage and the heart attack where both caused by the mutation of COL4A1.

For us parents it was hard and it still is nowadays but we will not surrender and, as we always say, “we are a family” and we will face everything together!

It’s constantly an uphill climb but we will go on without stopping, step by step.

Thomas now is a cheerful child, sociable, very sweet, determined and really stubborn and what’s good about him is that, with his stubbornness, he wants to do the things on his own.

Now, after much work, He only wears a brace on his little right leg and he never stands still for a moment. Who would have thought it! He loves swimming and he wishes to be a cyclist like his grandpa, even though Thomas’s bike has three wheels.

Thomas loves books, music and he has a huge love for trains.

There isn’t a sport he doesn’t want to try.

We are very proud of him, He amazes us every day and he continually shows his love for us.

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