Lilly’s Story

Meet Lilly! I am Etta and I am from Indiana. My daughter Lilly was born November 12th, 2008 at a very healthy 8lbs 9oz., I thought she was completely normal with great apgar scores and she caught on feeding very quickly. I noticed little things as she got older that didn’t seem normal to me, but I just thought every baby was different and tried not to compare her to her older brother. At 6 months, when she wasn’t even rolling or attempting to sit up I knew something wasn’t right. We started therapy, almost immediately after we noticed problems and were able to see a Developmental Pediatrician at Riley Hospital of Indianapolis. Lilly had many tests done, but they all kept coming back negative. Finally the doctor at Developmental Pediatrics decided it was time for Lilly to see a Neurologist. We went to see the Neurologist and he did more tests and a skin biopsy. Skin biopsy was inconclusive so when Lilly was 2, we did a muscle biopsy. At the same time I asked that they test her for Pitt Hopkins Syndrome, as someone had suggested to me that she may have it. About 5 weeks later we got the phone call confirming her diagnosis. That day has forever changed my life.

Lilly is a happy, sweet little girl. Full of spunk! She is bottom scooting on the floor now and is starting to get into the position to crawl. She doesn’t talk, but babbles all the time. We deal with a lot of constipation issues, so she is on a daily dose of Miralax to help. We have our ups and downs, but Lilly is such a joy to me and my family and I couldn’t imagine my life without her now. I know that things will get harder the older that she gets, but I am ready for the challenge and excited for each new day I get to enjoy with her!