My daughter Evelyn didn’t develop like a typical child, she did not develop like a typical Rett Girl either. She never sat independently, she took a long time to nurse, she never …crawled and hardly ever rolled over, she had low muscle tone, and once we started trying to find the cause of all the symptoms other issues kept piling up; Epilepsy, scoliosis, bruxism (grinding teeth), irregular breathing, no first words or steps, poor hand control, mouthing her hands (along everything she could get to her mouth), the list just went on and on. We began therapies to treat her symptoms, navigating from specialist to specialist as the co-pays piled up. It was numbing and overwhelming. In order to survive the emotional roller coaster I had to insulate my heart. It took just over two years to receive the diagnosis of Rett Syndrome.
We are approaching the two year anniversary of our “D” Day (diagnosis day). It was the first time I can remember seeing the words Rett Syndrome. Our doctors and the many specialists never suggested it. They never tested for it. In fact, we even authorized a painful surgical procedure called a muscle biopsy that took two months for results to be returned. That felt like the longest two months of my life. We received our daughter’s diagnosis in an email document. As impersonal as that sounds, I think it was for the best considering all we have learned since that day. We could have found out from a simple genetic blood test. Learning that infuriated us. We haven’t spoken with the geneticist that ordered the surgery in almost two years.
From that day forward I have sat on my computer using Google to look up any and all resources I could find to give me more information about Rett Syndrome and what it meant for our family. I made phone calls, left messages, and shared the news with our family and friends. There was so much information to sort through and some of it felt like it conflicted with what I knew about my little girl. In those two years, my knowledge and understanding of Rett have grown and I wish to share with you, what I wish someone had shared with me two years ago.
What is Rett Syndrome?
- It is a debilitating neurological disorder that primarily affects females.
- It impacts their ability to walk, speak, and use their hands.
- It is caused by a gene mutation that impacts an important protein the brain needs.
- The children affected appear “normal” and then between 1-3 years of age start to lose acquired skills
- Their physical disabilities/limitations are not an indicator of their cognitive abilities. They can hear you. They can understand you. They are smart.
Rett is caused by a mutation in the MECP2 gene (methyl CpG binding protein 2)
Who do you go to for a diagnosis?
The diagnosis of Rett Syndrome will typically be given by a pediatric neurologist, clinical geneticist, or a developmental pediatrician.
A pediatrician or therapist familiar with Rett Syndrome may believe it to be the cause of the child’s low muscle tone, scoliosis, seizure disorder, and/or loss of speech/mobility (among other symptoms), but will generally refer the patient to a specialist more familiar with neurological and genetic disorders. Once referred to a specialist, they may look at all the symptoms presented by the patient and suggest different tests to rule out other disorders or syndromes including, but not limited to, Rett Syndrome.
Many girls can be given a clinical diagnosis based on observations by one of the above specialist. A blood test can be performed to confirm a mutation in the MECP2 gene. There are also individuals that have mutations in the CDLK5 and FOXG1 genes who are diagnosed with atypical or congenital Rett Syndrome.
Why education is so important?
The primary goal is to cure Rett Syndrome. “When this happens, intense remedial therapy and teaching will be required to integrate new levels of functioning. We want patients to be starting from as broad a learning base as possible.” (http://www.rsrt.org/rett-and-mecp2-disorders/education/) They can hear you. They can understand you. They are smart. This means they can learn! It is imperative that the individuals responsible for caring and educating a child with Rett understand that from the beginning.
Advances in communication and technology are helping us learn more about our girls than ever before. Through eye gaze technology like the Tobii T15, individuals with limited control of their hands are able to communicate their needs and carry on conversations with family, friends, and anyone else willing to take the time to speak with them.
But you don’t have to have a speech generating device like a Tobii or Dynavox to teach a child how to communicate. It begins with offering basic choices. I started by holding up toys or food options and letting her either reach or stare at one. Once I was confident she understood what we were asking of her I made picture cards and used a cutting board with velcro to offer three or four options to her. With each selection she made she learned how to communicate. That was a defining moment for us. I was being awakened to all my girl could do.
If education is not encouraged and implemented for children with Rett we can never know their true potential. We effectively lock them in their own body and toss away the key. When a cure is found they will have more hurdles placed in front of them, why not help them get past these before that time comes.
How do we help educate children with Rett?
We start by making sure they are in an enriching environment that meets their needs (sights, tastes, sounds). Each child with Rett is different and will require different environments. What is enjoyable for one, may make another anxious. Start by slowly introducing new things to her and pay attention to what interest her and also look for what may be overwhelming or upsetting.
There are two types of enrichment, passive and active.
Sight – patterns, lights, colors, shapes, apps for smart phones and tablets
We’ve used paint chips from local hardware stores to teach colors. I also love using Little People animals to ask Evelyn, “Where is the cow?” She does great an picking out different animals. The bubbles and soft light of a lava lamp can be mesmerizing for some children.
Touch – different textures (rough, smooth, soft, hard, etc…)
I let Evelyn touch practically everything: dogs, cats, beards, rough texture, smooth textures, silky, furry, buttery egg-less cookie dough, paint, play dough, etc… Anything that will introduce a new texture to her memory.I remember the first time Evelyn sat in grass and touched it, she was less than thrilled and then tried to eat it. Don’t be afraid to get a little messy. Make a sensory box using dried beans or corn. Pinterest is full of great ideas on how to introduce new textures to children.
Sound – music, toys, cartoons, apps for smart phones and tablets
Music is one of the most obvious ways to introduce sound, but I have also found that Evelyn loves silly noises like a sneeze or a squeal of delight. Occasionally she will giggle when someone is crying and I explain that crying means someone is upset, but she laughs anyway. Toys are another way to expose a child to sounds; the dog say “Bark!”
We want to encourage parents and caretakers to expose girls with Rett to the same things they would expose a typical child to during their development. Education is all about being open to the opportunities being presented by the world around you. The grocery store can be an exciting learning experience when someone holds up an orange and talks about the color (orange), shape (round), texture (bumpy/smooth), and smell (just scratching the surface to release the sweet scent of any citrus fruit). The taste exposure would be best done at home if the child is able to take food orally.
Talking – This can be difficult for some because they are having a conversation with an individual that can not actively participate in the conversation by asking questions or answering verbally. However, they are absorbing the words you use like a sponge and it will expand their language skills and help them put situations into proper context.
Reading is another great way to expand a child’s vocabulary. Evelyn loves to read books. We have many of them all over our home. She also loves to turn the pages and if she isn’t interested in reading a particular book she will close the cover.
And don’t forget to play! Many times play will offer countless opportunities to expand a child’s world in unexpected ways. Take time to relax in a little unstructured play. The life of a Rett girl will be filled with structure and don’t we all love a little down time now and then.
No two Rett girls are alike. They cannot be placed in a one size fits all educational box. They need to be challenged, encouraged, and exposed to the world around them in a manner that fits their learning style and needs.
With observation and patience our girls’ potential can be unlocked. I have seen great strides in Evelyn since she started attending a school that refuses to accept that she “can’t” and instead believes she can. She walks, stands, paints, rides a bike, helps feed herself, and has recently started drinking from a straw. Yes, these things are accomplished with assistance, but she is learning. Our newest task is setting up her Tobii T15 and teaching her how to communicate through eye gaze. She is pushing forward.
Learning to cope with Evelyn’s diagnosis hasn’t been an easy process and it is a process that never ends. Things are constantly changing, for better and for worse, and we just have to jump those new challenges as they come. Getting stuck on what may happen only kept me in tears, afraid of the road that was in front of our little girl and us. Does it feel unfair? Absolutely! But there are a few things that have helped me push forward… Faith, hope, and purpose. My faith has grown stronger. My hope is like breathing sometimes a little labored, but always constant. My purpose is to share our story, encourage newly diagnosed families, spread awareness of Rett Syndrome, and help find a cure with the help of organizations like Girl Power 2 Cure, Rett University and the Rett Syndrome Research Trust. We’re just going to keep pushing forward.
Hi, we have a darling daughter with Rett Syndrome as well. Lauren is a fraternal twin of 26 years. Yours is THE BEST insight I have ever read about our girls. I tend to shy away from articles, they can be gloom and doom. Who needs that? Let these girls shine! They teach US to become better more living people! Thank you for your spot on insights! Nancy Gilleland, mom of Lauren, Melissa, 26 yrs, Jack 22 yrs and Joseph 20 yrs.