Lucy-Sotos syndrome or Cerebral Gigantism

Lucy: Age 5

Diagnosis: Sotos syndrome or Cerebral Gigantism


When Lucy was born, the doctors kept saying something was wrong but didn’t know what. She wasn’t hitting any milestones. I was just trying to keep her alive. They said she was emaciated, so frail and they listed all the problems she had. She didn’t make noises; she didn’t move. As time went on, Lucy got further and further behind developmental milestones. We didn’t know if she would ever talk or be mobile.  Many of her early months were spent just trying to eat. At four months we learned she was aspirating all her food. The doctor placed an NJ tube from her nose to her intestines. Eventually she was given a G tube. Lucy was totally tube fed until 15 months old. She didn’t start to walk until 18 months, and then it was done using a walker.  She didn’t walk on her own until 2 years old.   She was 2 ½ years before she said “mama” and 3 years when she said 2 words together for the first time.Lucy-Sotos SyndromeWe worked so very hard with her, and she had so many doctors and therapists. I don’t know how she ever would have made it without Primary Children’s Hospital and Kids on the Move (Utah County early intervention). Lucy had occupational, physical and speech therapy every week. We worked at home every single day with her for hours. She worked 1 hour daily at home with physical and occupational therapy from when she was 4 months old to 3 years old. Primary Children’s Hospital is a happy place for us – there has been such great support. Dozens of specialists have invested in her.

Lucy likes the medical help she has received and has really responded. She has made a lot of progress. Her speech has improved and her language has progressed.Lucy-Sotos SyndromeLucy was 17 months old when she was diagnosed with Sotos Syndrome or Cerebral Gigantism. Sotos syndrome or Cerebral Gigantism is a genetic syndrome with early overgrowth (some kids grow extremely tall) and a lot of global delays. Excessive overgrowth starts when a child is born and continues until the age of 13. A lot of children have intellectual disabilities and delays. They struggle with cognitive difficulties and social interactions.  One of Lucy’s biggest problems is hypotonia (low muscle tone) which makes it hard to swallow and eat. Some children have other troubles. Lucy has had trouble with eating and indigestion and with speech. Sotos is caused by a mutation on the NSD1 gene. That gene is in charge of making a protein that helps with growth and development. Lucy has a lot of discomfort because she grows so fast. She fatigues very easily and sometimes she gets “stuck” – she just can’t do things.Lucy-Sotos SyndromeI had been so worried about Lucy’s survival. It was a relief to receive a diagnosis for her. Now we could have expectations. We could see what other Sotos children had been able to achieve, we could get more specialists, and we could get more support. We are so grateful for her doctors. We were paired with ones who were perfect for us. Lucy loves her doctors so much. Sometimes she wants them to hold her during her appointments because she loves them so much. When she says prayers she lists the names of her doctors, her therapists and her nurses.

Sometimes Lucy hits a roadblock. Lucy has been working with Shriner’s Hospital lately. They gave her a special bike. They helped her get a bigger stroller, which, in essence, is a wheelchair. We try to go hiking to build her strength. When she gets tired on a hike, we just sit down and draw or eat.Lucy-Sotos SyndromeLucy’s nervous system is immature. With her syndrome, children can still do a lot –it just takes a longer time for their “train” to get to the development. Many children have a lower IQ; some are on the upper spectrum. Even when they grow up, they still need help and are dependent.

Lucy’s Painting

Lucy received the First Place Award in the Special Artist category at the State PTA Reflections Ceremony at The Leonardo Museum in Salt Lake where her painting was on display. Her painting went on to be displayed all over the country! We were able to travel to Washington DC and see it on display in the United States Department of Education where Lucy was recognized in a ceremony. Imagine her joy when she later received word she was named the National Champion in the Special Artist category! This category includes anyone with special needs ages 3 to 21 in the whole country! I am overwhelmed with emotion. Lucy is a pretty amazing little girl.

Originally, Lucy painted a flower as her entry. Her big sisters and a neighbor were in my studio working on finishing their entries, and Lucy kept wanting to paint more. I told her she was already finished and suggested she watch TV while the other girls finished, but she didn’t want to. I got out a paper and pen and asked the other girls to tell me how their paintings portrayed their ideas for making the world a better place. Lucy listened to what I was saying to the other children. I was so focused on the discussion that I didn’t even realize that Lucy was working on a new painting of her own until she came over, held it up, and announced,”The world be a better place if us have love in ourshearts. It makes us nice and kind and us not want feel sad in ourshearts, us want get happy. Don’t feel sad. A heart make you nice in a minute, my heart make you feel nice.” (I’m so grateful I was ready to write down her explanation!) She was really taking the Reflections theme to heart of what would make the world a better place. Then I asked her how she created her painting and she said, “Just make a heart with a paint brush, just do something, then it’s all done.” I am now trying to emulate what she produces. She simplifies, yet has a profound sense of painting. She is deliberate, but simple how she approaches art.Lucy-Sotos SyndromeLucy’s entry competed with anyone in her school with special needs, pre-school to 6th grade. I didn’t think of her painting going on, I was just happy to have it hang in our home. Once it left her school, she would be competing against anyone with special needs ages 3-21.  According to rules, adults can help special needs children with their art work. She could be competing with a 21-yr old who had an adult artist help with her work.

On the night of awards at her elementary school, Lucy was willing to go up on stage to accept the award, and even shook hands with the principal. Ruby, her sister, had entered the contest for regular students. Lucy said to Ruby, “Yours is so good, I wish you would have won instead of me.” Later she couldn’t believe she had won for the entire country.Lucy-Sotos SyndromeLucy is a hard worker. She has a very special, special spirit around her. Heaven is closer for her than for other people. Some people have really connected with her and can tell there’s something special with her. She can be a good helper to adults and children to try to help them have a better perspective on things. She adds her insights. I think they are profound. She has insights that people appreciate.

She likes to go into my studio. She craves it. She has told me, “We’ll have a studio together when I grow up.”

Lucy has had a painting displayed in my art show, and the Leonardo Museum hung up the painting she created at age 3.Lucy-Sotos SyndromeShe has passion – she paints because she want to and has something she wants to communicate. Even when very young, she made very deliberate marks, not just scribbles. She doesn’t do things just to do them, she is very purposeful with every mark she makes. She is very thoughtful. She is good at just painting and letting it be – not reworking it. She has a definitive use of color. Lucy uses a complementary color scheme and has a nice sense of colors and composition. She has fine motor skills.Lucy-Sotos SyndromeEven when she was very young I had her on my chest in a babycarrier and a backpack with her feeding paraphernalia on my back, Lucy always seemed very interested in what I was doing. She would turn her head, watch and follow, taking it all in. She liked being in the studio, liked watching me paint. You could tell she felt painting was engaging to watch. I took her in a carrier to the tulip festival at Thanksgiving where I go every year to paint. She was very curious and interested in what was happening.

I allow her to paint on my paintings that I sell. Sometimes she puts paint on the canvas then wipes it off. She likes to experiment and see what happens. I have learned from her and have used some of her processes in my own art.

My daughter Ruby can copy Master artwork. She has technical art skills and is always thinking about what people would want to buy. Ruby loves to draw animals and nature and has a keen eye for detail, she creates intricate patterns and is so sensitive with her line-work. My daughter Grace is so good with the business of art, she is wonderful at connecting with her audience, creating artwork that is relevant and delightful to purchase, – she does very well at the A local bazaar, the Beehive Bazaar. This has been a great outlet for her to create and sell her artwork. She has a lot of fun coming up with concepts and ideas and does a lovely job producing them! She is famous for her Modest Mermaids, and especially for her series of Star Wars Mermaids. Lucy is more about emotion, trying to communicate what she feels, trying to express herself through painting. I have really worked with her to improve her fine motor skills, hence she has improved. This has had good and bad results.  Yes she has improved, but because of her progress she does not qualify for therapy and help in that area. In teaching art, I’ve always tried to allow my students to generate their own ideas, I help them, but I don’t try to steer them, I feel that we create out best art when we are driven by passion, and the same is true with my daughters, I marvel as I watch them develop their passions and create work that reflects what they love, it’s interesting, they are less inclined to learn from my instruction as they are to learn from my example.  I just try to make materials and opportunities available for them, then I get to enjoy what they make!Lucy-Sotos SyndromeShe keeps on exploring, doing more exploration and doing more on a theme.  She is willing to try it, then tries it again.  Sometimes she just closes her eyes and thinks, then she says, “Jesus teaches us things when our eyes are closed.”  When she gets really quiet she will say, “Jesus is teaching me.”

I’m getting some quality studio time with my little Lucy. I’m in love with this new painting she just finished! I love it even more after I asked her to tell me about it, and she said, “These are Heaven Swings. Jesus puts them all around us, to make us happy, and everyone gets a turn any day. Sometimes you have to close your eyes to find them. Jesus just wants us to be happy. Has swings for us. Babies can see them, but grownups have to close their eyes. They are there so we can be happy.” Her “Heaven Swing” paintings have and are still displayed in the store called “Here” in Provo, and they also sell her artwork there, and were so inspired by her Heaven Swings, they built a” Heaven Swing” in the front of their store, with Lucy’s words describing what it is! The paintings have been so popular, that a Local newspaper, the daily herald, is working on a story about it that will be on their cover next week! This year for reflection, her painting is at the state level now, we are waiting to hear the results, the theme is “what’s your story” and Lucy drew her own story, she drew herself as a baby with a nj feeding tube, then as a toddler with her walker, now holding an ice cream cone and running! It is a wonderful piece of art, she worker so hard and was so determined to tell her story, it melts my heart.Lucy-Sotos SyndromeIt’s very gratifying to see Lucy develop and to see her artwork so well received. Lucy has defined in her own sincere way an answer for the National PTA Reflections theme “What would make the world a better place.” She figured out a way to communicate it. Her artwork resonates with a lot of people. It has been rewarding to watch people connect with her artwork. They love what it means. Some have wanted copies to hang in their home and have it be part of their life.  She’s been able to do that as a little girl and make people feel that way.

The Tulip Painter: