Charlotte has joy in being, hanging out and living in the present moment.
Charlotte was a relaxed, happy baby. A dream baby, who slept well, ate well and was full of joy. It was her first birthday when her parents noticed something different. They noticed that she was looking at, but not really seeing her colourful musical toy. Her personality changed and she became gloomy, would get upset and screamed easily. She stopped bottom shuffling around the house and pulling out books to read.
Her mum (Caroline) and dad (Mark) were concerned with these changes in behaviour and sought the opinion of a community nurse, who advised that they should investigate when Charlotte was around 18 months if she was still not meeting her developmental milestones of waving, trying to stand, babbling and maintaining social contact. Charlotte’s condition deteriorated and she steadily lost more control. She stopped babbling, reduced her eye contact; did not try to stand or move and screamed constantly. She had stopped achieving any developmental milestones. Many trips to PMH ensued, but at each trip the advice was to go home as she was still eating, drinking, not presenting with a rash or fever and was at the appropriate body weight.
They say a worried mother does better research than the FBI and so it was for Charlotte’s mother, Caroline.
After much research, Caroline came to suspect that Charlotte had Rett Syndrome. She showed all the symptoms – loss of hand movement, screaming, and regression. Certain that the issues were real, Caroline and Mark sought the advice of a paediatrician. They asked whether Charlotte may have this rare syndrome. The paediatrician researched the syndrome and following clinical observation agreed that this may be the case. A blood test was needed to confirm the diagnosis. Two months later, Mark and Caroline received the phone call that confirmed Charlotte had Rett Syndrome.
Charlotte’s superpower is the ability to use anyone else’s super power when needed.
Charlotte loves cake and all things sparkly. She loves chilling out on her bed, going on the swing, having a bath, swimming, wind in the car and going for a stroll in the park. Even though her current favourite colours for choice of outfit are black and white, she has always loved pink, purple, sparkles, glitter and sequins! Mark nicknamed her Shark. Charlotte is nothing like a sea creature with sharp teeth and because of that, the nickname stayed!
Even though life can throw you a curveball, together we are stronger because shared information is shared power.
Caroline is heavily involved in the National Rett Syndrome group, RSAA. This provides the opportunity to share information about what works or suits their family in the hope that it’s something that can help another family who find themselves in a similar situation.
Our source of strength is in life itself… In the love we share.
The hardest thing for Charllotte’s family is time management but Charlotte has a way of slowing them down. They see the joy in hanging out with her wonderful smile. Holding her hand is enough to break your heart.
As Caroline says, you have to cultivate hope. Hope is the heart of a family. Believe in your child, believe in your ability to do what it takes and share that with everyone. Someone will hear or read your story and it may help them on their journey.
Caroline and Mark hopes the community can support them by sharing the information about Rett Syndrome and also the importance of spending time out in nature for parents, siblings and children with special and complex needs. Charlotte loves being outdoors in nature and also at any event for a good few hours to toddle, sit or roll around. People who have seen her distressed and irritable inside a house are amazed at how happy she is outside. We just need to ensure there is plenty of CAKE and food for Charlotte to keep the HANGRY monster at bay!
Love changes lives beyond possibility and is the key to open communication and engagement with Charlotte.
Rett syndrome is a severe genetic disorder in which the brain does not mature in the way it should which is caused, in most cases, by a mutation of MECP2 gene. The disorder slows or halts development affecting all body movement needing a daily management plan to deal with seizures, breathing swallowing and eating problems, scoliosis, sleeping problems and anxiety. Children and adults living with Rett Syndrome are able to enjoy an enhanced quality of life with the support of a supportive Speech, Occupational and Physiotherapy team who can ensure despite Rett Syndrome there is access to communicate and be mentally and physically strong every day.
| Melissa Emmerson | www.facebook.com/melissa.fong.5/