The typical 3-year-old goes through the daily routine of eating, playing and learning. The toddler topples out of bed and begs for chocolate for breakfast, then pitches a fit about getting in the car to go to preschool. He would hug his mother or father goodbye as they walk through the school gate for a day filled with ABC’s, rectangles and recess. A few hours later, he runs through the school gates and launches into his mother or father’s car for a day filled with more games and diversions. For Sebastian Estevez, however, his toddler routine sees the inside of hospital walls at least once a week, which is more frequently than most adults do in their lifetime.
Ms. Jennifer Estevez, eighth grade literature teacher, gave birth to her son, Sebastian Estevez, Nov. 17, 2013. When he was six months old, he was diagnosed with hydrocephalus, which is a buildup of fluids in the brain, but this did not stop him from developing into the strong-willed child he is today.
“He knows what he wants. He’s really smart, hilarious, and very feisty. He and his 8-year-old brother, Omar, love each other to death and when they are apart, they want to be together,” Ms. Estevez said.
As Sebastian grew, Ms. Estevez started noticing subtle differences between Sebastian and the other children his age. Whenever Sebastian got a cold, his sickness would linger longer than it would in a typical child. When he would get healthy again, Sebastian would contract another cold immediately. Ms. Estevez took to Google to research his conditions and possibly find solutions to his problems.
“The one thing I was worried about was that he had fuzzy hair on his back. Children with Hunter Syndrome have excess hair, so I brought it up to the doctor. The geneticist said that because he was just a baby, the fuzz was precedented,” Ms. Estevez said. Also, the doctor felt he was developing too “typically” to be affected by a serious genetic disease.
However, when Sebastian was about 2.5, genetic testing confirmed that he actually did have Hunter Syndrome, or MPS II. According to Mayo Clinic, Hunter Syndrome, or mucopolysaccharidosis II (MPS II), is a rare genetic disorder caused by a missing enzyme. Most children diagnosed with Hunter Syndrome do not live past their teenage years.
“I felt hopeless because there is no cure. We basically just knew that we were going to have to watch our beautiful, smart, perfect child completely deteriorate in front of our eyes. I feel like we’re grieving a life that is not gone yet. He still has so much life ahead of him even if his life is cut very short,” Ms. Estevez said. “He’s still very young, and we should be looking forward to enjoying things with him but there is always something in the back of my mind that says ‘Today is one last day we have with him.'”
There may be hope. The Nationwide Children’s Hospital in Ohio has recently begun conducting human trials for a treatment for Sanfilippo Syndrome (MPS III), a related disorder. Thus far, the trials have been successful. The doctors have found a cure for MPS II, but the project will cost $2.5 million to start human trials. Project Alive, a nonprofit dedicated to finding and funding a cure for Hunter Syndrome, is attempting to raise the $2.5 million.
“Our community has worked really hard on legislating for the 21st Century Cures Act, which was passed a couple months ago, not for just MPS but for the rare disease community in general. That was really big for us. Now, we are looking to raise a lot of money. There are no pharmaceutical companies behind this, so basically it is all just donations for the cure. Because the MPS III doctors already conducted human trials, they know exactly how much it costs,” Ms. Estevez said.
Ms. Estevez, other teachers and students are bringing fundraising to Heritage to reach the $2.5 million goal. The first week of April, the morning announcements will play a different video each day informing students about Hunter Syndrome.
“Hunter Syndrome changed everything. I find myself recalibrating my perspective and my expectations so that I do not completely fall into despair. So I find new dreams, goals and hopes. At this point, my biggest hope is simply that Sebastian will survive Hunter Syndrome. That is enough for now.”
Find out more about Project Alive: projectalive.com
Find out more about Sebastian Estevez: savesebastian.com
Text “ALIVE” to 91999 for information on how to donate.