02/28/2023
What does Rare Disease Day mean to me?
For me, it is a day to acknowledge the rollercaster of a journey my life has been over the past almost 11 years, as I am a rare disease mom, and advocate.
My journey through motherhood has been a long one, beginning long before my son was born. After going through years of fertility treatments, five miscarriages, and a difficult pregnancy, I was blessed with my son Giovanni. We were overjoyed by his arrival but felt that something wasn’t quite right. He was having rhythmic jerking movements and had a difficult time feeding. He had periods where he would turn blue. Despite seeking medical attention on multiple occasions, we were told that he just had an underdeveloped nervous system and that he would outgrow these issues. I would spend most nights just watching him, making sure he was still breathing. Even with a growing list of complications, no one listened. I felt completely lost and alone and feared for his life.
It wasn’t until he had a sudden regression in development that doctors started paying attention. One week before his first birthday, Giovanni had an MRI, and that afternoon we received a call that changed our lives forever. He was found to have an extremely rare disorder of the central nervous system called Porencephaly. He had a large porencephalic cyst in his brain caused by an in-utero stroke. What I remember most about that day was the neurologist telling us that not much was known about this disorder. Here we were, almost a year into this and even though we had an answer, we still had very little information. The information that we could find indicated that he was going to face a lifetime of complications including epilepsy, spastic hemiplegia, speech problems, and intellectual disability. I even remember reading that the average life-expectancy was 8 years. Giovanni is currently 10 years old.
If someone would have told me ahead of time of all the hardships I would encounter, I would have told them there was no way that I could handle any of it. I think that is unfortunately how people see themselves when looking at a family who has a child with a rare disease. You think about how the parents manage to even function, let alone “deal” with the situation. That is how I used to think. Oh, I could never handle that. And then it happens.
I want to be the first to tell you that while yes, it isn’t easy, it is all I know. I want you to know I still fall apart. I still sometimes cry at night for what my son has to go through… and what my husband and I go through. I sometimes doubt my abilities as a mom. I sometimes wonder if I am doing enough or if I am doing things right. Being a rare disease mom has taught me that you can’t take a single day for granted, as tomorrow isn’t a guarantee. Giovanni has taught me how to fight, how to love, and how to see the beauty in life. Although it has been a tough road, I wouldn’t change a thing.
