The story of Christie
My son, Hugo, was diagnosed with a rare genetic condition called MECP2 duplication Syndrome when he was 11 months old. This was not a diagnoses we were expecting nor did we know anything or anyone with a genetic condition or development delay. How could this be as when you go looking they are everywhere in our society?? Why are these things never talked about in the “all you need to know when you are expecting a baby” books and classes?? At the time of the diagnoses it felt like our lives would stop, but it really shouldn’t have to be.
We had to embark on a steep learning curve to uncover what this diagnoses meant so we help our little boy and keep him healthy. It is a scary reality when there are no specialists that deal with your son’s condition. So as a parent, you have to learn to be an advocate and find other parents in the same boat to learn from.
Hugo is now 2 years old and is the sweetest, carefree and happy little boy I know. Although life is very hectic with all his therapies, he has taught me to slow down and enjoy/appreciate the small things in life. He doesn’t walk or talk, but he loves to babble, laugh and dance – so that is what we do:). His happiness and interest in life is infectious and he is such a joy to be around.
We don’t know what the future holds as his diagnoses brings with it a 50% chance of living past 25 years old, communication and movement difficulties, severe seizures and intellectual disability. But that is for us to deal with in the future and for now it makes us enjoy the present even more.
You can learn more about Hugo and his condition as well as donate to research at his website https://hugosworld.webnode.com/