Celebrating Sean’s 1st Birthday!

We can hardly believe that our sweet Sean is already turning ONE! 

In some ways it feels that this year has flown by, but in other ways it has been a very long year.  At the beginning of this past June, we were told that Sean needed to wear a helmet to correct his flat head.  At the time we felt that this would be a monumental challenge and worried about how our little Sean would react and how this would affect his interactions at the playground with other kids. Little did we know then what we were about to face and how silly it feels now to have worried about his helmet.  

At about the same time that we were considering the helmet, we noticed some other changes in our little sweet boy. Some changes were subtle and others were more pronounced. Sean who always paired his smart outfits with the biggest smile that could light up a room, seemed to stop smiling as much. Then he started having some small shuddering movements that turned into larger movements. When we brought up concerns with his pediatrician, we were told that he was just developing and that these shuddering movements were benign myoclonus and nothing to be concerned about and that he would outgrow them. But, his smile continued to fade and his movements seemed to get worse and things just didn’t feel “right.”  We decided that we needed a second opinion.

On July 3rd our lives forever changed.  In order to get a second opinion, we needed an EEG. We entered the hospital for what we thought would be a routine test. However, things changed as soon as the EEG began. We quickly learned that those shudders were, in fact, seizures, and that our sweet little boy had a very rare form of Epilepsy called Infantile Spasms (IS). Sean was immediately admitted to Lurie Children’s Hospital and his amazing team of nurses and doctors started him on a rigorous medication therapy to control the fireworks in his sweet little head and extensive testing to determine the underlying cause for the IS. Those first few days in the hospital, we felt that our world was crashing in. We held our sweet baby and between tears promised him that we would do anything and everything to help him. A few days later, armed with medication and shots, we headed home to face a whole new reality. 

Less than a week later, Sean experienced severe side effects from the medication and we found ourselves back at Lurie Children’s Hospital. It was during this next stay that we learned that Sean’s IS was caused by Menkes disease, a rare genetic syndrome impacting copper absorption.  This was the reason he was losing his smile, because  the lack of copper in his body prevented his brain from “speaking” to his muscles. Again our world came crashing in.  Again we held him tight and promised to do everything and anything to help him. 

Sean is a tough-cookie and he has faced these challenges with a strength unbelievable in one who has yet to reach his first birthday. As the copper replacement therapy is beginning to show signs of working, his giant smile once again lights up his face and warms our heart.  Each and every day we see small signs of improvement in his abilities and his development that give us hope for his future. We are truly blessed to have Sean in our lives. We are also blessed to have so many people who have been here for Sean and for us during these difficult months. We are deeply grateful for all the prayers and support.  We know that the progress we see in him daily would not be possible without the love, prayers, and help of so many in Sean’s life. 

In celebration of Sean’s first birthday, we would kindly ask for you to consider making a donation to Citizens United for Research in Epilepsy (CURE) in Sean’s honor. Sean is fortunate to have a team of doctors, nurses, and therapists devoted to helping him. But, we recognize that more needs to be done to understand and conquer Infantile Spasms and Epilepsy and help more children like Sean. Especially those without the resources and support network with which are so blessed. Every dollar donated helps ensure that our sweet boy and kids like him are given the best possible chance for the full and happy futures that they so deserve! 

We are thrilled at each day’s progress and victories. Organizations like CURE provide support for research and innovation that make those victories possible for Sean and kids like him. 

ABOUT CURE:

CURE is the leading nongovernmental funder of epilepsy research in the world. Their mission is to find a cure for epilepsy by promoting and funding patient-focused research. Since inception, CURE has funded more than 60 million in research grants to investigators around the world and has led ground-breaking initiatives in Sudden Unexplained Death in Epilepsy (SUDEP), Post-Traumatic Epilepsy, Infantile Spasms, and Epilepsy Genetics. More than 90% of CURE's funds go straight back into their mission.