I had hoped to get this published, but no takers. However since this is Rett syndrome Awareness month and I won’t have time to update regularly, I would rather share it than let it never get read, especially after all the work Carrie Weaver put into editing. Without her, it would not have said all that needed to be said.
20 Years in Oz
By Melinda Lancaster
Seen almost exclusively in females, Rett syndrome typically represents between 6-18 months of age. Characterized by developed microcephaly, stereo-typical hand movements and a regression of skills, Rett syndrome effectively wipes away all hand-use, verbal language, and mobility, leaving children trapped within their own bodies. Many children develop seizures, breathing abnormalities, swallowing difficulties, abnormal weight loss, GI issues, cardiac abnormalities and behavioral issues.
For 20 years now, my daughter and I have been in Oz, searching for the Emerald City with its Grand Wizard – a cure for Rett syndrome. When my daughter, Katelin, was about eighteen months old, the Scarecrow came to visit. I did not know it, but her brain was beginning to malfunction. Deep within her genes a protein, called MeCP2, had a mutation, and it was about to wreak havoc on my once verbal, mobile child. During the next three months, my daughter lost her ability to use her hands, to walk and to speak. In essence, to all those around her, her brain was no longer working right. Her beautiful, sweet baby words were gone. I remember the last time she said “Mama,” her face pressed against the screen door. She had not said it in a while; I stopped in my tracks and ran to her. I held her and kissed her. In that moment, I was so hopeful; how wrong I was to hope.
The Scarecrow stayed. Katelin retreated into her own world, one in which she remained in, untouchable and unreachable for a year – stuck like the Scarecrow on his pole. I cannot imagine the horror she must have felt, her brain refusing to work for her, fighting her every desire to speak, move and use her hands. I was lost in a cornfield maze. Every turn I made, I hit a wall. I took her to doctor after doctor, only to hear “we do not know what is wrong.” And that is the beginning of one’s journey with Rett syndrome. The doctors do not know what is wrong; no diagnosis, a lost child and a lost self.
Sometimes, I would sit by her feet, look up at her and cry, “Help me find the way out.” She would just stare at me, her eyes filled with tears. My heart cries for the Scarecrow and all children with Rett syndrome. They are so smart, only no one truly knows how much. You see, they are taking in the world around them from where they have been stuck. They see everything. They hear everything. They understand everything. They are longing to talk and have conversations and learn even more, but they are now off the beaten track. The world is passing them by and many people do not see them nor know they are there.
The parents of children with Rett syndrome wave our arms frantically, shouting “Over here, over here! Come help me get the Scarecrow down. Please, someone help me. Oh, why can I not get to him?” And then, somehow, he is down! Just like that. The regression phase is over. Parents probably have a diagnosis by now…Rett syndrome. The crazy running in circles is over, but the Scarecrow is still there; and you begin your journey down the Yellow Brick Road, often carrying him along.
When Katelin and I began our journey those 20 years ago, the medical research was not there and I did not know why I had to carry the Scarecrow along. Now, I understand why he came and why he stays- the pathways within the brain are broken; he is tripping and falling over the gaping synaptic spaces that were so much smaller when Katelin was a baby, before MeCP2 and microglia came along and cut the road in pieces. The Scarecrow cannot walk very well, sometimes not at all. He is shaky, he falls a lot, and sometimes has seizures. He needs so much help.
MeCP2 is essential in normal nerve function, inactivating some functions and activating others. Due to the mutation, normal function and activation/inactivation is impossible. In addition, microglia in the brain attack the synapses in the Rett brain. In essence, this combination prevents the growth of dendrites and thereby lengthens the synaptic space, allowing for gaps too large for the brain’s signals to reach their designation.
And that is how life remains. Your daughter cannot feed herself, or dress herself or play. She NEEDS you. She needs you every moment of every day. You watch her while she seizing and you curse her brain. You drag her along the road so fearful that something might happen and we are put back in that blasted cornfield of mazes and walls. Parents become so bruised as they stumble along the Yellow Brick Road of parenthood and broken promises. We envisioned the Yellow Brick Road as golden and smooth with open meadows of flowers and butterflies, instead it takes us through the dark forests of fear, worry and grief…where we meet the Tin Man.
The Tin Man is so stiff. He needs a lot of oil to undo the damage of rusting. Basically, he needs therapy, and lots of it. So, you search. You search for the cabin where the oil can is. There is no one directing you. You are definitely ALONE. No Glenda the Good Witch here. You spend days…weeks… years looking around, not sure which way to go, hoping someone who has been there will jump out and say, “Hey! Over here.” But, that does not happen. You just have to find it on your own. And not everyone finds it as soon as someone else. It is a terrible feeling, being so indecisive, unknowing, unsure, but you have to do SOMETHING. So, you strike out, still holding on to the Scarecrow, who can never be left alone, pushing through the underbrush of paperwork of this agency and that agency. There is a terrible sense of urgency as time goes by and that oil can remains out of reach. The Tin Man is getting stiffer and stiffer. You worry if there will be enough oil to help him now. Finally, the cabin is in sight. You rush inside only to find an infinite amount of oil cans each labelled DIFFERENTLY; ”standing,” “walking,” “hand use,” “communication,” “dystonia.” There are even ones that are labelled “swallowing,” “eating,” “breathing.” You are overwhelmed, like in the cornfield, looking this way and that, confused and lost. Which do you grab? Where do you begin? So, you gather up what you can, stumble back through more paperwork, people saying, “sign here,” all while still holding and helping the Scarecrow. Finally you get back to the Tin Man.
The Tin Man is patiently waiting. You would give anything to hear him talk, so you start with the oil can marked “communication.” You empty that damn can and he tries. He tries so hard, but nothing happens, not a single sound. There you go; that is Rett syndrome again. You pour your heart and soul into helping your child talk, and you are left empty handed. No amount of therapy seems to help. You toss that can to the side, you let go of that hope, and you move on to the next oil can. Some of it will work and some of it will not; it is a constant battle of time versus rain and rusting. You keep running back for more oil. You do not get much sleep and when you do, you feel guilty. But, the stoic Tin Man, he puts up with it and he works as hard as he can. You know how much heart he has, how hard he is working. He never stops, even when all the while people around him are saying, “It is futile. He is too rusted.” Or worse, “He is not really trying; if he wanted to, he would move.” YOU know he hears it all and he must get so disheartened. But…sometimes, when you think nothing is working and you no longer have the strength to go back to that cabin one more time….he moves, all on his own! And you will throw yourself on your knees and cry with joy that SOMETHING you did finally helped this sweet soul.
This is how Rett syndrome parents live. Our lives revolve around therapy and doctor appointments. We have to learn the names on all those oil cans. We become medical encyclopedias. We become so weary from all the effort, not just getting our children to all these appointments, but doing therapy at home, researching on the internet, doing hand over hand exercises. Seven years; that is how long it took, doing hand over hand, to reteach my daughter how to feed herself. The search for the right therapy is brutal to the psyche. So many times, like tossing away an empty oil can, we have to throw away a hope that becomes futile. My daughter is lucky, she has relearned some words; she has good hand use and walks independently. This is not the norm and it is heartbreaking to know there are children and adults with Rett syndrome who have never said a word and may never walk nor use their hands effectively.
Therapies that are helpful for children and adults with Rett syndrome vary with each person. It is almost a certainty that they have speech and OT/PT. Others include hippotherapy, aquatherapy, augmentative communication and therapies for swallowing, eating, anxiety, behavioral issues and the list goes on. Those afflicted with Rett syndrome can suffer from many physiological issues as well-scoliosis, kyphosis (hunched back), reflux, chronic constipation, etc. Many people will need spinal surgery, feeding tubes, respiratory assistance, and cardiac intervention. It is important to remember that just because children and adults with Rett syndrome are often unable to move or reach for what they want and are almost always unable to verbally communicate, they are constantly aware of their surroundings, they are understanding and listening at age appropriate levels. There is nothing wrong with their receptive language; it is only expressive language that is nearly impossible. With the right interventions, i.e. Pragmatic Organization Dynamic Display (PODD) communication books, switches, and even Eye-gaze technology, these children are learning to communicate.
Just as Dorothy discovered, not everything about a journey in OZ is scary and hard. Some of it is beautiful and some wonderful things happen along the road. Every once in a while, the Scarecrow might point at something he wants or the Tin Man moves without a squeak. Now and again you meet people on the road, where it intersects with someone else’s journey. What a relief it is, to sit down and talk with others who understand you, understand your child. You swap stories and ideas, but you do not get to stay there very long. They move on and so must you. And all you really want is a poppy field, a place where you can sleep. Sleep becomes a dream all its own. The Scarecrow and Tin Man, they do not seem to need sleep; At all. You push on, and then there comes a time when you have entered yet another dark forest and you think to yourself, “Will I ever get to the Emerald City?”; that is where you run into the Lion.
The Lion peeks out from behind a tree. He knows you are coming. He is ready for you. He jumps out and he ROARS. At first, you’re startled. The Lion huffs and puffs and growls, hoping that it works, hoping that he has frightened you away. Then you slap him on the nose, and he cowers. He cries. He really cannot understand why his ferocious stance did not work. As you watch the Lion cry and comfort him, you realize that you need to help him; you have come to see that the Lion is a lot like you. He is trying to put on his best courageous face, even though he’s really scared, lonely and unsure of what is going to happen. All he wants is to be somewhere not as frightening as this dark forest. So, you let him tag along. And it turns out to be a good thing. He is a lion! The things lurking in the shadows do not know he thinks himself to be uncourageous, they just see a lion. They believe in his courage and ferociousness, even if he does not. Those who dare to stand up to him scurry away when he roars. He’s strong, too. He helps carry the Scarecrow and Tin Man. And what about the Scarecrow and Tin Man? They help when you and the lion finally reach that poppy field and want to give in and stop fighting. They are the ones that carry you that day.
In the end, parents and caregivers of children and adults with Rett syndrome are lions. In the beginning, our attempts to advocate are thwarted. We are unsure, we are learning how to stand up like the lion did so many times. We say all the right things, but then schools systems, government agencies and insurance companies swat us on the nose, and we bleed. We go down, but we come back up after losing that first round and we push on past our fears. We roar when something stands in between us and the goals we have set for our children. We become the advocates we need to be; fierce out of fear; fierce out of desperation; and fierce out of hatred for injustices wrought against our children. And, when we feel we can no longer go on, when our lion’s heart and ferocious roar leave us, our children carry us through that day. These children who have trouble moving and cannot speak, somehow help us over mountains.
Advocacy for our children becomes a driving force. IEP’s (Individual Education Plan) are a test to our endurance as we battle schools for what is best for our children. Very few children with Rett syndrome are mainstreamed with their typical peers. When my daughter was in middle school, her classroom was a modified janitor’s closet with no windows. I have had to fight to have her included in art and gym with the general education students. We must advocate at every turn, not only with our schools, but with doctors, various agencies, insurance companies and society as a whole. Tenaciously, we raise awareness through fund-raising, lectures, and painting our fingernails and toenails purple in October. We hand out “purple cards” and “angel cards” full of information about our children and Rett syndrome. We are joined by the lion cubs, siblings who courageously stand up in their schools, in our community and are there every step of the way, helping and supporting their sisters and brothers on this journey that is Rett syndrome.
Katie’s and my journey in OZ has lasted 20 years. Some are new on the journey, while others have been here much longer. Too many have been lost along the way. But all roads are now converging on the gates of the Emerald City. The Emerald City is full of our dreams, rose colored, emerald colored, a horse of a different color than most parents’ dreams. We don’t dream of our child being the best athlete, nor president, nor even being a parent themselves-those are paler dreams that what we hold in our hearts. Words. Walking. Reading. Seizure free. Independence. These are the stuff of our dreams. In the Emerald City, they are sparkling. And we are going to get through that gate. We will pound on it until we get through. We will scale the walls if we need to. And, when the Wicked Witch of the East (Rett syndrome) writes “SURRENDER” across the sky, we (parents, doctors, researchers, and our children) will yell out “NO,” and together we will find a way through or over that final barrier. It will not stand in our way forever. And we will walk hand in hand down that long hall to the Grand Wizard where we will stand in line as he hands out his gifts; A diploma to the Scarecrow whose brain is healing and who can now dance and jump without falling; A heart to the Tin Man, who now moves with ease. A heart that beats so loudly no one can deny its strength. A shiny gold medal to the Lion, who overcame his fears and helped us all over obstacles. Only then will we finally get to go home and truly rest.
We are close to a cure. Rett syndrome has the potential to be the first reversible brain disorder; it has been reversed in mice. We are so very close. Clinical drug trials, like the NNZ-2566 (Trofinetide) trial in Houston and the IGF-1 trial in Boston, are providing essential data and promising results. The days of hopelessness are in the past and we are daring to believe in our dreams again. We can see the spires of Emerald City. We are closing in on those distant gates… and a cure.