Meet Lucy Hanson, four years old from Westbrook, Maine. Lucy’s journey towards an RTS diagnosis started at a routine ultrasound when I was eighteen-weeks pregnant, it was discovered that she was not growing at a normal rate and I was diagnosed with intergrowth uterine restriction. We had genetic testing done at that time which all came back normal. My pregnancy was closely followed until it was determined at thirty-four weeks that it was best to deliver her. When she was born, she weighed 2lbs 4oz, but was incredibly healthy. She amazed all the doctors and nurses in the NICU by how little intervention she required. We spent a total of thirty-five days in the NICU, in that time she flourished, breathing on her own within twelve hours, learning to eat from a bottle and do all the necessary things that she needed to do to go home. One thing that was very obvious was she was slow to gain weight and certainly, on her own growth curve. The day we were finally able to bring her home she only weighed 3lbs 4ozs.
Once we got her home, she closely monitored by her pediatrician, an at home nurse and an occupational therapist. When she was three months of age, she started seeing a gastroenterologist because she continued to grow at such a slow rate. Around the same time, she began to develop a rash on her cheeks that was persistent and we saw a dermatologist who told us it was eczema and to treat it as such. A few months later I noticed it had begun to spread to hands, backs of her arms and to her knees, we were again told it was to eczema and to treat it as such. Shortly before she was one and half, we sought the opinion of another dermatologist and it was at that appointment they were able to tell us that Lucy had poikiloderma but the cause was unknown and suggested we see a third dermatologist. The very next day we had an appointment with the recommended dermatologist and that was the very first time I heard about Rothmund-Thomson Syndrome. Quickly following that appointment, genetic testing took place and we took a trip to Boston’s Children’s Hospital to see Dr. Stephen Gellis, a pediatric dermatologist, who had treated other RTS patients. He took one look at Lucy and told us he could clinically diagnosis her with RTS. It was about a month later that the genetic results arrived confirming what we had expected, Lucy had Type 2 Rothmund-Thomson Syndrome.
Fast forward to today, Lucy is a happy, healthy, kind and everchanging little girl. Her daily life is pretty typical for a toddler, she loves to play with her friends from school, dress up, read and is always up for an adventure. She is still very small weighing in around twenty-two pounds and wearing size 2t clothing. Lucy like all RTS patients is so unique, her father and I have made it our mission to trust our guts when it comes to her medical care, to advocate for her as best we can, to spread awareness and support the RTS family anyway we possibly can. We are grateful for all that Dr. Wang, Dr. Levy, Ta-Tara, the Kimmel’s and the entire RTS board for what they have done for RTS research for so many years. Having a community of professionals, parents like myself and people I can now call my friends to lean on as we navigate so many unknowns is comforting.