Marco

MMA, Cbl C

If I think of Marco’s first months, it seems like another life, a long time ago to me. When I think of Marco in the PICU, I can’t believe it’s the same kid I’m looking at now, so strong, so happy and so beautiful as he is today!

Marco was born on the 6th of September 2010 after a wonderful pregnancy. We spent the first 24 days trying to feed him more than he was able to eat. On the 3rd of October he was in the PICU, under ventilation and sedation. That was the worst period of our lives.

​After he had blood and plasma transfusion, after lots of complications, between those HUS (Hemolytic-uremic syndrome), we had finally a diagnosis: MethylmalonicAciduria with Homocystinuria. That name sounded so difficult to say and to comprehend!

During those days in that hospital something unbelievable happened, there were other two babies with exactly the same rare disease as Marco!  One was diagnosed before him and the other one after him, all the doctors couldn’t believe it could be true!

After the first months, where it was very hard to understand how to live with such a hard burden, today I can say that I’m one of the happiest mothers on earth! Marco is such a lovely kid! He is always smiling, he just loves life and people around him are by his joy.

We also were very lucky to meet Dennis and Marco (also CblC) and their families, who became our very best friends and live nearby.

The kids are all taking part to the clinical trial of antioxidant EPI-743 in Rome at Bambino Gesù Hospital and we are placing great hopes on this new drug. It seems to be of great help in preventing and reducing eye and neurological damage. Marco until today hasn’t shown any retinal or macular damage, his only vision issues are nystagmus and strabismus.

We really hope our kids and all the kids with CblC can soon benefit of EPI-743 and that can be a great breakthrough in the cure of this rare disease.

Marco is now 3 and half years old, he’s starting to speak and everyday he surprises us with something new. At the beginning of this difficult path I was always trying to push him to sit, to crawl, to stand, to walk, to do everything he was supposed to do at his age. Today I’ve finally slowed down and let Marco do what he’s able to do, encouraging him and gratifying him in full respect of his possibilities, I think this is the only approach we have to use with our kids and the greatest proof of our love.

by: Simona mom to Marco
Italy

From the Spring 2014 OAA Newsletter