CarLeigh Rose Avery

We are the Avery family, and our littlest member, CarLeigh, lives with MSD. Our journey started earlier than most when our mom, Valerie, realized something was off while she was still pregnant with CarLeigh. Her mother’s instinct told our dad, Craig, and us kids (Aleeah, Skylar, and Timothy) that something wasn’t right. Mom didn’t gain her normal pregnancy weight, and she had more swelling and complications than with any of her previous pregnancies. When CarLeigh was born, she didn’t scream and cry like the rest of us did. She wasn’t breathing, and none of us, even Mom, were able to see her for a whole hour after she was born. More issues arose over time because CarLeigh started having continual constipation and bloody stool. Everyone believed it was a formula allergy, but it didn’t stop there. When CarLeigh was six months old, we couldn’t deny something wasn’t right because she wasn’t able to gain weight and she was smaller than the rest of us at her age. The first pediatrician we went to didn’t see any issues, but Valerie knew they were missing something, so we switched pediatricians, and our journey with MSD began. 

Our new pediatrician knew Mom’s and Dad’s concerns were valid and decided to proceed with testing to figure out what was wrong. They were able to find out that CarLeigh needed breathing treatments, and she had a fatty liver. However, that wasn’t the root cause of her issues, so our pediatrician sent us to a geneticist. After more in-depth testing, we got the worst news of our lives—CarLeigh has Multiple Sulfatase Deficiency (MSD). And we were told we’d likely be planning her funeral before her third birthday. We were shaken to our core, and everyone broke down in tears on our way home, dark numbness taking hold of our hearts. 

The geneticist gave us a binder of information to read when we were ready. We couldn’t open it immediately, because that would make it real, and CarLeigh would deteriorate before our eyes. We had to ride out the waves of sadness that hit us over the next few weeks like nothing we’d ever experienced before. It was nothing we’d even wish on our worst enemies. Sharing the news with the rest of the family was even more difficult because, with such a rare disease, we had no idea how they’d respond. They ended up taking it as best as possible, but they didn’t understand its complexities. We still needed support, and so after two long weeks, we opened the binder. What we found was the United MSD Foundation ready and waiting for us with open arms. 

The Foundation has given us a place to look for help when everything has seemed lost, and we had nowhere else to turn. Their geneticist has been doing everything in their ability to make sure CarLeigh’s physical health is being taken care of, but it’s still hard getting help from other doctors who don’t understand the disease and still need Mom and Dad to explain it to them. CarLiegh always “seems” fine, and it felt like pulling teeth to get providers to go the extra mile for her. We’ve worked so hard to give CarLeigh everything she could ever need as a strong and growing three-year-old who has yet to decline, but it still feels like we’re on a countdown and we’ll never know when the time will run out. We live every day with CarLeigh to the fullest because we cherish our time with her. 

CarLiegh is a happy, high-energy toddler who loves to clap, eat bananas, dance, jump on the trampoline, and be with us, her family. While CarLeigh is not meeting the milestones for an average three-year-old, she is still a ball of love and energy. As her siblings, we love to spend time with her and help keep a smile on her face and everyone else’s faces, even in the darkest of times. CarLiegh is currently undergoing physical and speech therapy to help strengthen her body and mind. As a family, we ask anyone who wants to help to donate to the MSD Foundation or to pray for us and CarLeigh because there is nothing greater than prayer. We hope that one day, the Foundation will have the cure ready for CarLeigh and for the other children affected by MSD, because parents shouldn’t ever have to watch their child deteriorate, and every child deserves a full life free of pain.