Aviles Family

Family Story Aviles

Gabe was a surprise pregnancy! I was 39 and already had three kids when I gave birth to him, and when I was pregnant, all tests came back indicating that he had Downs syndrome, presumably due to my age. We were heartbroken, but studied up and were ready for our little Downs baby. When he was born seemingly healthy, we were elated! Our happiness didn’t last long, however. Gabe quickly began missing all of the milestones. He wasn’t making eye contact. He wasn’t laughing or cooing. He didn’t sit up until he was 10 months old, didn’t crawl until he was a year and a half, and didn’t walk until he was two. He was 100% deaf and didn’t talk, and we were told to enroll our family in sign language classes. When Gabe was still a baby, I told the pediatrician something was wrong with him. He sent Gabe to a local neurologist for testing. The neurologist interviewed us and concluded that Gabe was merely spoiled… that we did everything for him and so he had learned to be lazy. I told him that wasn’t it; I had four kids and a job and didn’t have time to spoil anyone. He insisted he was right. As we packed up to leave his office, in my mind I knew that on the car ride home, I would find another neurologist. Right as we were leaving, he peeked back in and said, “before you leave, let’s take some blood just in case.” I said, “Just in case of what?” He answered, “just in case.” A few days later, he called me while I was driving and told me that Gabe’s CPK levels were at 22,000. I asked him what that meant, and he said, “I will be shocked if he doesn’t have muscular dystrophy. Give him a good life, because it will be a short one. I’m so sorry.” and he hung up. I pulled into a parking lot, and, hands trembling, googled muscular dystrophy. I called my husband sobbing and he came home from work. Genetic testing confirmed the diagnosis, and we found out he was missing exon 68 and part of 69. We learned that these were rare and high exons to be missing. We found a new local neurologist who basically told us the same thing. There was nothing we could do, he won’t live to be an adult. I wasn’t OK with just sitting back to watch my baby die. (At this point he had just turned one a couple of weeks earlier.) I googled “best doctor for Duchenne Muscular Dystrophy” and Brenda Wong’s name kept coming up time and time again. I called her office and they told me that she wasn’t taking new patients, but I could go on a waiting list, so I did. However, through an internet investigation, I found out that she was going to be one of the speakers at a PPMD conference in Orlando, an hour from us. My husband and I registered and went and I stalked her. I begged her to take Gabe on as a patient. I told her he was still a baby. I told her there were no good local neurologists. She invited us to have lunch with her. At lunch, we told her our story, and she agreed to add Gabe as a new patient. She told me we would probably have to wait several months to see her in Cincinnati, but we were willing to wait. Two weeks later, Dr. Wong herself called me at work and said she had just had a cancellation, and could we be there in two weeks. Absolutely, we could.

Eventually, I got involved in the political side of this disease, as Florida is one of the worst states to live in if you have Duchenne. I met with several politicians and went to Tallahassee a couple of times to speak before congress. Together with some of the nicest congressmen I have ever met, we wrote “Gabe’s Bill” that would allow Duchenne patients in Florida to qualify for a medicaid waiver. It passed through the first round, but was killed in budgeting. Gabe’s disease was quickly becoming very expensive. He also was in desperate need tor ABA therapy for autism, but without Medicaid it would be $5,000 a month, and we just don’t have that. Through some Facebook groups, I found out about a CureDuchenne conference in Newton, Mass. I really felt like I should go. I had been to a couple of PPMD conferences but didn’t feel very connected to anyone, and felt like my only value to them was if I raised lots of money for them. I longed to connect with other Duchenne families with no strings attached. (I had a job as a very visual staff member at a large church where people saw me on the stage every week. I felt like my position made fundraising sketchy; I didn’t want to compete with the church, who was building a facility and raising funds of their own at the time.) I flew up and absolutely knew I had found my tribe. Everyone from the CureDuchenne team was so nice and so interested in helping us. Dr. Wong was there and Facetimed Gabe, who was elated! The event was packed with information. I was especially amazed at the amount of knowledge Mike Ke;lly had. After he spoke, I saw him in the hotel lobby and told him how much I enjoyed his talk. He asked about Gabe and I told him a little about him. The next evening, I saw him at the hotel bar and he called me over. He said, “I’ve been thinking about your son. You need to keep your eye on a clinical trial for microdystrophin. That will be his best shot at getting help.” I couldn’t believe that he even gave Gabe a second thought. Likewise, Doug Levine had a couple of meals with me and gave me valuable information regarding PT. This was his lunch break, but he was still sitting among families and talking.. unbelievable! But I learned that this is the CureDuchenne DNA. The more I get to know the CureDuchenne team through events and meetings, the more evident it is to me that this is who they are. Showing families that they matter. Their stories matter. The siblings matter. We aren’t just potential donors or fundraisers. We are families who are trying to navigate this messy, sticky journey called Duchenne. No two journeys are the same, yet CureDuchenne manages to meet the needs of everyone. I could not be more grateful. The rest of our story id still being written. We have moved from Florida to New Hampshire in order to be able to keep seeing Dr. Wong during the pandemic, as well as in hopes of Gabe getting into the microdystrophin trial that Mike Kelly told me about in the hotel bar years ago. Through CureDuchenne, we have found what every Duchenne family is longing for… HOPE.

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