A lot of people dream about a happy family, with children roaming around the house, laughing and turning everything upside down. It was our dream, as well, to give our daughter the chance of sharing life with a sibling, while enjoying more of her childhood with the closest of friends.
When Martin showed no interest or skill in moving beyond his closest proximity, we initially thought he was just the laid-back type. Little by little our questions and fears have started to pile up on our insides and we decided to seek medical advice.
From that moment on, things happened quickly – or so it seems now when looking back. In a matter of 6 months, we went from the basic pediatric consult to the MRI and, ultimately, the all-encompassing genetic testing (the whole exome sequencing) that brought us to the most concrete and terrifying explanations of all.
Learning your child has a genetic syndrome that might hinder him from doing whatever he wishes in life – we all dread this. Learning this genetic syndrome is degenerative and that regress is a possibility no matter how much therapy and hard work he does – this was heartbreaking.
Learning this is one of the ultra-rarest syndromes around the world, with less than 200 individuals currently diagnosed – this shed an ounce of hope in making us think we cannot judge a prognostic based on a number that is small.
This is the silver lining we found. We started focusing on the unknowns and on the freedom of spirit the unknown has to offer.
The past two years have been awfully long and terribly short. With several hours of daily therapies, Martin managed to progress both with motor skills and cognition – bringing us on the verge of exploding whenever he managed and continued to do something new. It was on several occasions we thought this is adrenaline-like. Every progress, albeit so small and coming so slowly, feeds us with the energy and determination to work and aim for more.
Nature, however, has its course, no matter how much we would like to be able to control it. On Martin’s good days I am confident we will pull it through. On his modest days, we realize he needs a treatment, or a cure.
He needs to have this addressed in a scientific way – more than us, his parents, could offer. In this respect, we are so thankful we found other families sharing a similar journey. We are a group inspired by the same vision and fighting for the same goal – push the research through and be able, in a couple of years from now, to provide our children a real chance to a good life.
We will be the happy family we are dreaming of. I am confident.