“Share Your Sparkle” is a new component of Daybue.com where you can share your story about how Daybue has positively impacted your child’s quality of life- a short blurb about a symptom that has improved and a picture is all it takes to share “more of your loved one’s sparkle (with) the world around us.”
Each shipment will include a brochure about this new program on Daybue.com. You can also check out the criteria for submission of your story-here. The main criteria for a submission is- your child has to be over 2 years old and taking DAYBUE for at least 12 weeks.
You can check out the growing gallery at Share Your Sparkle and get an idea of how long the submission should be.
There is another program for those not on Daybue, also affiliated with Acadia, to tell your story and let your child shine! Rett Revealed is an ever growing comprehensive site of awareness- care plans, stories, resources and the amazing new series- “Magnolia’s Guide to Adventuring“; a documentary series by AJ, Jenny, and Magnolia Tesler.
These programs are all set up so that YOU can spread awareness and be encouraged by the wonder that is our children, their families, and the incredible ways they adapt to have access to the world around us all.
Please, do the community a big favor and let’s see all that SHINE!
Due to a misunderstanding on my part, I believed this would be launched in May. I apologize and I am SO excited to introduce- Rett Revealed!!
Announcement from Acadia:
We are excited to share the launch of Rett Revealed (https://www.rettrevealed.com/) in honor of Rare Disease Day and the Rett community 💜. Rett Revealed is a virtual gathering place, designed to inspire families impacted by Rett syndrome with hopeful stories about families living full lives with Rett syndrome. Through collaboration with families in the Rett community we are sharing powerful patient stories. Rett Revealed aims to show that while a Rett syndrome diagnosis may mean the loss of a “typical” life, an “incredible” one is still possible.
In 2022 Rett Revealed was created as an awareness campaign that highlighted the lives of those supporting and those living with Rett syndrome. Inspired by Confetti, the art of Emily Shifflet, a 27-year-old eye-gaze artist who was living with Rett syndrome. Photos of meaningful moments came together to reveal a collective experience of Rett syndrome in the form of a unique mosaic art piece (which we display proudly in San Diego office).
Beginning in May we will be releasing the upcoming documentary series: Magnolia’s Guide to Adventuring. The series will run from May through to October (Rett Awareness Month) with an episode releasing every 2 weeks. This series featuresMagnolia and her family as they head out on adaptive adventures across the United States with others living with Rett syndrome. Each episode will highlight a Rett symptom and share how families are adapting their adventures around it. More to come on this closer to May!
We look forward to sharing more about this campaign at ASCEND and all GLORY to Susan Foley, our consumer marketing leader for pulling this all together.
Please, check this site out! A.J. and Jenny Tesler are AMAZING parents and their film work with Magnolia, including Magnolia’s Hope, a documentary, have helped bring Rett syndrome Awareness to the public in a big way. I am looking forward to watching each of the upcoming episodes of “Magnolia’s Guide to Adventuring.” I think it will be an eye-opening experience about what is possible, even with a Rett diagnosis.
Sign up for updates on new stories and when new episodes drop!
*(Rett Revealed is NOT about Daybue, it is about raising awareness and providing the Rett community the unique opportunity to share our stories, adventures, mishaps and the humorous side of life with Rett syndrome.)*
I need to start a journal; I know, “you can’t BELIEVE I don’t keep one!” Sad, but true. What I can tell you, though, are some of the incredible things that have happened this month.
One day, I promised Katelin to take her outside and I was going to slow for her tastes so she went into my bedroom, shuffled through the clothes on the bed and pulled out a pair of pants and BROUGHT them to me. Def. a mic drop moment.
She has started to pull the arm of her seat in the car down to grab on to and pull herself up. I’ve been trying to teach her that since she started on Daybue.
She has said all sorts of things, just out of the blue- Am I going to school tomorrow? (It was a Sunday). She asked the neighbor boy, “How was school?” And there was more!- Bus coming here tomorrow? Had a party (at her day program) She told her bus driver to “Have a nice day,” when she got off the bus.
Her school is telling me that she is saying all sorts of new things at her program 🙂 Almost done; what’s the time; time to go home; strawberry; money and more. Some of these are even new to me!
Two special things she said were, “taco” (I did make tacos that night and she was so happy) and “zoo” (we went to the zoo that weekend and I can tell you she was Hulk mad when we left.
She’s started speech therapy and has had only three sessions. I’m not sure how it’s going but she is starting to chat away. The therapist asked her “which book do you want” and she replied, “count” and picked up a counting book. Shocked me because I didn’t think she cared too much about math. She’s been able to answer yes/no several times using her app and sometimes verbally. We both think she needs to warm up to the therapist before we’ll really know how it might go.
Gross motor-wise she’s coming along by leaps and bounds- she’s picking up tables and chairs to move them out of her way or to where she wants them. Her ability to keep track of items is incredible- she can pick out the iPad on a field of a black chair or remember that I hid it behind a chair and try to get at it, even if it’s the next day.
She’s beginning to wash her hair correctly; she’s always kinda rubbed her hair a tiny bit, but now she’s using her fingers to scrub, pretty proud of herself, too. One thing about her hair that is a thrill for me- she’s had a skin condition that required lotion and since starting Daybue that has resolved and I can grow her hair out. People know she’s a girl now. ❤
Along with all these improvements, frustration has become an issue, but we are working on deep breathing and talking it out.
It’s been a lucky, magical month. Must be because St.Patrick’s Day is in March. ;). Looking forward to seeing what April brings.
A personal blog needs to be honest. Over the years I have been the best mother for Katelin. The painful truth is by doing that I failed to be the best mother for my other children. This was aggravated by many factors and perhaps a change in any one of them would have changed the outcome of being estranged from my other children.
A single mother is screwed. When there’s only one of you and three children or two children, it’s a Sophie’s Choice life. My son once asked me, “Don’t we (his other sister and himself) count?” He begged me to place Katelin outside the home.
Which mirror image does a Rett mother see at the end of her life? The one which abandoned her most vulnerable child to unseen/unknown hands or the one which virtually, by default, abandoned her other children, in their eyes.
This is a scenario which has played out in many families over decade upon decade, mine is not the only one. What can one say to an adult child who says, “you weren’t there for me?” It’s true, not always and in many ways, I was there for them, they just didn’t know. You listen to the “experts”, “don’t involve the children.” That only works when it’s both sides, when it’s only you-they see failure.
I had to learn not to make promises; Rett syndrome makes a mother out to be a liar. They will never know the tears I cried for that. The memories I didn’t get to make no matter how hard I tried, how I planned. I needed the support of others, and it just wasn’t there. Babysitters that canceled, a non-custodial parent that canceled, court dates that interceded, child support unpaid. That’s not to say there weren’t some really special times, but if a child doesn’t remember them, it doesn’t matter that it happened. Does one special, BIG thing really balance out the rest? No, it doesn’t.
When you have to leave one of your children in the ER and go back home in case your Rett child needs you because the other child at home is old enough but not REALLY old enough. What does it matter all the times you tried when your other children have to deal with hours of screaming, no bringing friends home, helping protect you from a combative child?
My children know I love them and I’m certain on some level they still love me, I’m their mom, but love is not always enough in the world of Rett syndrome; I hope time will heal the wounds I could not save them from, no matter who they were made by.
Rett syndrome is not a singular disorder- it is a family diagnosis. A treatment for one is a treatment for all. My greatest hope with Daybue and other treatments, which may one day come to fruition, is that parents won’t have to make that sort of a choice, it haunts you your whole life.
I’m sorry I’m 3 days late. I should have had this post to GO! But blog writer fail there.
My FB profile picture March 10, 2023
March 10, 2023, the day that ended the “no treatment” era of Rett syndrome. It’s largely true that the first couple of years or so after a new drug comes out is the fourth phase; having a treatment, when it’s the ONLY treatment, means it’s not THE treatment for everyone. This has become sadly apparent. People have struggled with the main side effects- diarrhea, vomiting, and weight loss.
Daybue has been hailed in the circles where stockholders and pharmaceutical companies and medical journals reside; it has been cautiously advanced by doctors who were thrown by having to deal with diarrhea vs constipation for the first time; it has been decided against by doctors who know their patients can’t take a chance at losing a pound or are not mobile enough that aspiration pneumonia is a real concern. It has been defamed by biased, innuendo laced pseudo-reports. And so, what do we really have?
We have the first treatment for Rett syndrome. Like all medications, not everyone can tolerate it. We have a community of ingenious people who are finding all sorts of ways to make it so their children can take it without or, at least limited, side effects. Moreover, we KNEW this would be the case. More than doctors, more than Acadia (AcadiaConnect and AnovoRX have really stepped up to this challenge), parents and caregivers are the line in the sand; that line of defense that has to work it out- and many, many have.
But let’s start with Acadia– they went all out with AcadiaConnect and after a very short, rocky start, gave us all an asset through our FAM’s (Family Access Managers) who are our contacts for concerns and questions. A shout out to my FAM, Ruben, who checks in every week and remains my sounding board. ❤ They gave us AnovoRx, which is available 24/7 (8-8 and after hours on call pharmacist). AnovoRx has done a stand-up job of listening to what worked and didn’t work for diarrhea, coming up with new suggestions as doctors and caregivers provided feedback. This really is a great service.
Acadia continues its mission of educating new parents through its ongoing “Discovering DAYBUE™ (trofinetide) Caregiver Series”-the next one is coming up on March 21, 2023. Reach out to AcadiaConnect or your FAM with questions before or after. I attend each of these and am happy to answer any questions as well.
And the biggest news of all, Acadia was given RoW (Rest of the World) rights to Daybue AND NNZ-2951 for Rett syndrome and Fragile X. NNZ-2951 is considered by many to be the golden ticket of molecules as it is being tested by Neuren in four other rare diseases.
You can see where each drug is in the process. Dame Margaret Brimble created both these molecules. Neuren and Acadia stand poised to bring the treatments of six rare diseases to fruition, tremendous really.
Taken directly from Neuren’s website. All rights reserved by them.
It was a mad scramble at first, in every way-from the rollout, to trying to manage the side effects, to seeing incredible results or, in some cases, no changes. For my part, I have run the gamut of confused, distraught, determined, frustrated, and profoundly surprised many times. But after a year, things are calming down. The major issues are known; interventions have changed for the better, Acadia is listening to caregivers and working on their end to address our concerns.
And in the words of Katelin, spoken yesterday to the bus driver, for the very first time- you have a nice day!
For those hoping for a year in review of Katelin’s Daybue journey, she didn’t start until June, so it’s coming 😉
Oh, this is not an easy trail to be sure, but after about two weeks at full dose it’s easy to see improvements- motor-wise she’s zooming up, language-wise she’s noticeably improving, though not at the extraordinary rate I saw in her earlier trial; for those that hear her, though, it appears she’s zooming up in that as well.
Her balance is truly amazing; she can stand on one foot long enough for me to put her pant leg on and lifts her lower leg higher than I’ve ever seen her do when dressing. She will hold on to a chair or table with one hand if I ask her to or if she feels unsteady. Someone stole her wheelchair, so she’s been forced to do more walking, not much, and she’s doing it without too much complaint. She’s definitely walking faster and doing stairs better.
Her ability to navigate obstacles is mind-boggling. A chair in her way used to stop her, now she walks around it or MOVES it- just picks it up and puts it to the side. If a toy she wants is under the bed, she will get down on all fours to reach it; before she would only be able to look at it or, at best, point. When she gets mad and flips a table or chair, she picks it up and places it back, then picks up the things that fell. This is simply an insane improvement.
Language is still lagging behind, but what she has been able to do is put more phrases together in a logical manner. Last week, I think it was, she used a past tense verb “left” instead of “leaving”. I was getting ready to go out and she said, “Mommy leaving?” and I said “yes”; then through the door I heard her say, “Mommy left!”
What IS becoming apparent is she really is part leprechaun. The sense of humor that has always been evident is now blossoming in the spoken form. A few examples: The bus driver was telling us about how his car was stolen and found in a lake. Katelin starts laughing and goes, “It drowned.” HAHAHAHA
Then the other day, I told her, “Come on, off the bus.” She starts laughing and says, “You’re funny.” The whole bus cracked up. Sometime when I say that, she’ll look at me and say, “Not yet.” LOL.
And just last night, for the first time in over a decade, she counted “1,2,3” in bed and made it seem so easy. I was never going to give up even though there were times I was discouraged on this journey, but how could I when I knew Katelin was counting on me?!? And now I get to listen to her count. We make a pretty good team and I count the blessings of Daybue-1,2,3…….!
It’s now January and we have entered the first year, in the history of the world, where there is no longer NOT a treatment for Rett syndrome. Astonishing. On the heels of Daybue (trofinetide) are other encouraging treatments- Anavex 2-73, NNZ-2951 (a cousin of sorts to trofinetide) and, for those who have been waiting for it, gene therapy trials have begun in Canada, the US, and soon the UK.
These advancements are all possible due to the courage of the Rett community to dare to dream. Dreams never look the same for everyone, so I am glad that there may be options for the different mindsets of people that make up our community and the world. I hope that all these trails and trials are fruitful, but there is definitely something to be said for being first. 🙂
Katelin’s journey so far has been a bit of a rough go; however, I am encouraged with the New Year that she will have an easier time. She has begun to “talk” non-stop in the last week or so, so much so that neighbors and bus drivers have commented on it and have understood enough to have small conversations with her. She’s talking SO much that even she made note of it- “I’m talking!” to which I said, “Yes, you are. Can you be quiet!?! You are soooo annoying!” She just laughed.
Her motor function has taken a jump and I am repeating the experiment I did during her original trial of throwing balls into a vortex. I am excited to see in a couple of weeks how she does compared to last weekend. With all the “improvements” that have come along this past couple of weeks, comes the knowledge that she doesn’t want me to talk about it to others in front of her. First, I ask if I may; if she doesn’t respond I’ll say, “well, you let me know when you want me to stop” and she will whine pretty early on in the conversation. She is learning that doctors are different than “people” and allows me to discuss with her doctors what I need to. I find the more she can make her preferences known and the more I listen to them, acknowledge them and do what she wants, Katelin is beginning to truly learn the power of “No”.
So, what do we see here? Holding on to her lunch box, navigating the curb (her baseline is needing to hold on to my hand), walking at a fairly normal speed (baseline is between sloth and snail, lol) puts the lunch box on the top step, alternates feet (baseline is one step both feet, next step both feet etc) and then she walks directly to her seat without assistance.
One cute new thing she does is give me a running diary of my motion- mommy leaving? Mommy bathroom? Mommy leaving, then come back? Mommy go bus? (No, mommy is not going on the bus!) Mommy no, no go on bus, stay here?- It’s a challenge to keep up with her questions and to grasp the new phrases that are buried in a bunch of jabbering, but I wholeheartedly accept this challenge for her.
I don’t know where this new year will take us or where we’ll be at the end, but I’m sure liking the beginning of it.
Thanks to all who had a hand in it, may you and all of us have a year full of promise and hope.
Leaving her hood on for the first time ever. She removed it when her hair had dried enough and it warmed up. Amazing.
It’s my “job” as a writer and author to put things into words, to take the difficult and make it easier to understand. I am not a writer who likes to take a solid concept and make it oblique, so people have to drag out the meaning from cobwebs or the color of wallpaper. Yet, I struggle with this one issue all the time. How to explain “high functioning” is not a bed of roses, when so many would give anything to be in those shoes. But the other part of that is how to show those of even higher functioning children than Katelin that their progress on Daybue is just as important and outstanding as those hearing voices for the first time, without minimizing the hurt of parents that just hope for a sound, one intentional movement, one taste of food that doesn’t jeopardize their lives. I don’t know how to do that. So, I hope what I write now offends no one, nor makes me sound ungrateful.
I often see, or rather don’t see, posts from parents of high functioning children. They watch from the shadows, probably a bit nervous about posting a concern or a win, given most of the topics on the forums. But as a parent of a “high functioning” adult, I want to say…I know you’re out there. I’ve met you; I’ve seen you; I’m so happy for you. And I’m thrilled for what Daybue is doing for your children even if you don’t like to post about it.
Listening to an adult finally being able to say the Sign of the Cross is a big deal to her family, it should be celebrated. I’m an atheist, yes, but it’s doesn’t take belief to BELIEVE and KNOW this is something they have hoped for forever. I wish I could see more of it, hear more of it, be part of those achievements even if it’s only online.
I remember the first time I went to a strollathon and a parent walked away from me when they saw that Katelin could swing. Instead of being happy for her, we were shunned. I know there are far higher functioning children than Katelin, ones at a level I hope for her one day. I will never shun them and their new achievements, even if Katelin never reaches a level higher than where she’s at. I will rejoice for them. We all want our children to be able to reach the stars. Does it really matter how high the stars are that they can reach?
Writing this is a hope that those who might be wary of posting will feel comfortable sharing their stories more often. I think our community is far more inclusive than it once was decades ago. The wide spectrum of abilities is well known now, and I think we know the grass is not always greener, especially with the self-injurious behaviors, aggression and other behaviors that often come with higher functioning.
I can’t say what it was that made me feel like this is something I should write, but I did, and so I must write it or have it nag at me for forever and a day. All our children have Rett and it’s always a monster; Some boys and girls are just a bit further away from it; I rejoice in that.
Ten years ago, today, Katelin proved to me that there was hope-the war against Rett syndrome could be won. Hope is a powerful thing. When I was young, I read a story about a POW in Vietnam who had sewed an American flag out of scraps, and I can only imagine how much hope that act of defiance gave to those men. Stitch by stitch, beatings, stitch by stitch again. I’ve thought of that story often, when life has been hard in my 60 years, because Freedom is cause for hope; believing that whatever torment, burden or tragedy is not going to last forever, and you will one day be free is sustaining.
Day 1, Day 2 and Day 4 on meds/placebo
Today, ten years ago, was day two of her participation in the NNZ-2566 trial and her drawing had drastically improved from the day before and I believed. I believed that we would one day be here- with an approved treatment for Rett syndrome, that Trofinetide (Daybue) would change lives, that it would reach into the depths of our children’s brains and stitch by stitch repair their brains and set them free.
I created this blog to share our journey, however it turned out, so long ago. I could never have guessed in my wildest dreams the hope people tell me it has given them. I am grateful that Katelin and my words has given to others what Dame Margaret Brimble and Neuren gave to me. It’s been a priceless piece of the crystal of happiness. In the words of Priscilla Leonard, “happiness is like a crystal, fair and exquisite and clear, broken in a million pieces… learning ever to be thankful, though their share of it is small; for it has so many pieces no one ever finds them all.”
All I ever needed was a few small pieces, but Dame Margaret and Neuren handed me such a big piece that imaging the beauty of the whole of it was easy; it dazzled in my mind, I cried from the sheer, staggering size, light and the colors that prism made. I could hold hope, letting it flow through my fingers like sand and catch it again in my other hand; I could throw it in the air like glitter or like the fluttering, gold confetti when someone hits the golden buzzer.
We aren’t “there” yet. Not everyone benefits and that hurts my heart. Some did not live long enough to get a chance, that hurts my soul. But we know it’s possible to be “freer” and that is better than not free at all. Stitch by stitch, scrap by scrap, Hope is created by perseverance in the face of daunting odds, whether on your own or others on your behalf, Neuren and Acadia have proven to be stalwart stewards of that hope.
Every trial, every dose, every test, needle stick, side effect and moving forward is in defiance of Rett syndrome. The Rett community is one full of those “not faint of heart”, we have the courage to hope and that makes us powerful beyond any words I could ever pen.
I’m sorry I haven’t written more; it’s been an ever-changing world in our home as I fine tune the regimen that keeps her able to stay on Daybue. I didn’t want to not check-in, though. Sometimes, I feel we’re in that song- “Going on a Bear Hunt;” with Daybue…you can’t go over it, you can’t go around it, you just have to go through it. 😉 .
Katelin is back up to 20cc per dose and tolerating it well so far. She keeps coming up with a new word here and there. She cheered at her nieces’ soccer game- “Come ON! Help” and has been saying things like “score”, “goal”, and “win;” so, she definitely grasps the basic concept. One of her nieces got to hear her say her name, “Surrey.” The smile on both their faces was something to see.
She’s been having some pretty severe separation anxiety but last week she put THIS together!:
“Mommy leaving, mommy come back?” I was so relieved she got it. It’s been a bit easier to leave the room lately. Now she asks me- Mommy go sleep? (I nap when there’s a respite person) or Mommy go bathroom?
I think these are tremendous concepts for her to put together and understand and I’m so proud of her.
Today, she managed to stun me. She had a sticker on her foot. She stopped. Stood on one foot, bent the other and took the sticker off, dropped it on the floor and went on her merry way. 🙂 Such a seemingly uncomplicated thing to do and yet the stuff of miracles.
She’s having day after day of good days and for this I am extremely grateful to EVERYONE, you know who you are. I was even able to take her to Knotts Berry Farm and go on a few Camp Snoopy rides. It’s clear my girl is not a thrill seeker, lol.
Trail to a Texas Trial 