Every 90 minutes or so a baby girl is born with Rett syndrome. You go to the movie theater, get there a bit early, watch the pre-show, the previews, the movie… that’s two new Rett girls. Every two and a half days a new baby Rett boy is born. Just little drops in the bucket of new life; but to us, the people who love them, they are the glass full of joy, dreams, and hope. We watch them roll over, crawl, walk, babble, talk and then along comes Rett and dropperful by dropperful takes it away. Some days it feels like it just tipped the whole damn glass over all at once.
We try to stop it. We watch it slip away toward the edge of the table, our hands cupped, trying to catch as much water as we can- through therapy upon therapy. Sometimes we put some back in the glass, other times we just have to sit there and watch it slip through our fingers. Such is this life we’ve all been given.
There are times when the glass seems fuller, and we toast to a victory; other times it shakes so badly it seems it will shatter. We watch it… what does its reflection show today? A smile for the bus? A seizure? A giggle for grandpa? Or severe breath holding? Will there be a clock still ticking time? Or one with no time left? That’s our lives. Drops of this, drops of that; bubbles of laughter/bubbles in an IV bag; drops of kisses at night/kisses after drop seizures; splashes in pool therapy/splashes of tears on a hospital bed.
It reminds me of a stanza from the “Rime of the Ancient Mariner” by Samuel T. Coleridge:
Water, water, every where,
And all the boards did shrink;
Water, water, every where,
Nor any drop to drink.
So often we are adrift on that great ocean of the unknown, surrounded by all the things we need and, even still, Rett shrinks their hand use, their voice, their dreams whatever they may be. We can be completely engulfed and not one drop of anything will make it better.
To live in America, right now, means that some of our children have access to Daybue and many are seeing their glasses filled again, drop by drop; that does not mean we still don’t see reflections of what could have been in that glass nor that we don’t still watch for the clock to stop.
I’m never sure what will appear upon a page when I sit down to write during this month. Maybe it’s the hurricanes that made me think of Rett syndrome like water- swirling, flooding water causing so much destruction and yet even in the midst of devastation there are always pockets of joy, good will, a life saved, and there’s good water- good clean water brought in to help people survive, like Daybue and the constant research which will bring options around the world and one day a cure for some.
Please keep those in the path of destruction in your thoughts and, if you can, be a drop of good for someone in need.
There are so many things I could choose from for my first post of the month, and I will get to all of them eventually- Acadia’s RettRevealed; the World Rett Conference, just held in Australia; the many events being held across the States. But I’ve chosen a topic that has reverberated across the US Rett Community this past week- the death of Syndi Knowlton.
Syndi was an inspiration to so many people, she started Utah Kids’ Foundation; their mission”… is threefold: provide information and emotional support to our members, facilitate the sharing and distribution of medical supplies, and run programs and events to provide experiences for families with disabilities.” She served on the board of directors for Epilepsy Association of Utah and never tired of helping others, despite multiple challenges of her own.
When Katelin and I visited her on our way out West, she was as gracious and as funny as could be. Her passion for helping others obvious as there were boxes upon boxes piled up ready to be filled or already filled with necessary items for families. Not once was there anything but a smile on her face and positivity just glowed off of her.
Mine is but one teeny, tiny story in a life that touched thousands of others in the most positive of ways, often in their darkest times. She was a role model for humanity.
There is a poem I think of often: The Dash Poem by Linda Ellis (the “dash” being the one between your birth and death). The final stanza goes like this:
“So, when your eulogy is being read With your life’s actions to rehash… Would you be proud of the things they say About how you spent YOUR dash?”
I know for a certainty Syndi should be very pleased with how she spent that dash-she helped selflessly, she tried tirelessly, she loved immensely.
Please keep her children in your thoughts as they learn to navigate this life without her and especially, Izzy who lost the one person who understood her the most.
Katelin started Daybue the last week of June 2023. From that first dose of 15cc until now has been quite the adventure. I’m not going in chronological order, I only have a bit of time to write, and this is not a case study. Yet, I hope that all will understand how brave she was and how she persevered through all my trial and error, effort, mistakes and the times that were simply magical in their absolute simplicity.
Our journey started out with a party! So much excitement…and then the vomit. Yup, this was not going to be easy. Even at 15cc the diarrhea was an experience of epic proportions. Too many of you know of which I speak. I soon realized that Katelin had adverse effects to everything initially recommended-and it all had to come to a halt.
This was a hard time for Katelin, even with the small dose and side effects she was improving. She asked the dentist- “Are we DONE, YET!!!” Her walking speed increased, her ability to get in the van improved greatly and her behavior plummeted; but a regrouping was in order.
Here’s where the wonder of Facebook forums came in handy. Tip after tip was posted for the general population and I was able to take it a more natural route-adding bananas, baby rice cereal, banatrol, fennel for gas, turmeric for indigestion, simethicone gel for gas and slowly, slowly over the months I came upon a formula that works for her. One of the main changes was going to lactose free milk (Daybue curdles regular milk, so I could only imagine what 60cc would do, when a few drops in a tsp was so gross) I was able to jump from 40cc to 60cc overnight.
It was not easy, I spent thousands of dollars on possible things to help, new sheets, pillows, blankets. My kitchen had become a laboratory. But, I KNEW, because Katelin kept taking it despite everything, that she wanted it and trusted me to figure it out.
Now we’re a little over a year in and about 4 months or so at full dose, give or take a day here and there. Can I say it was worth it? Indeed, I can. I wish I had the RSBQ in front of me so I could use the standard for testing improvement.
Behavior: this is the number one improved symptom that makes the biggest impact on our lives. I no longer worry about taking her to new places or if she can handle it. Of course, she still has her moments, but our lives are filled with a lot more peace and she gets to enjoy more of the community and in general her quality of life has jumped quite a few steps up.
Hand movements: she still wrings her fingers, but it’s much less, there are periods when they don’t move, even at rest; she’s able to self-feed more often and better, dropping less and catching it on her spoon before it falls. She can switch things between hands now and when she can’t, she places the item on a table.
Gross motor skills: I would put this as the most important skill but because behavior has the greater impact on daily living, I count that as most important. I could not possibly list all the improvements, and it would get boring. One of the very first things I noticed was the ability to stand on one foot! This helps immensely when getting her dressed. Eventually, she was able to use her right arm (always slightly impaired from seizure activity as a toddler) equally as her left, though the left remains dominate. She can catch different sized balls; she can throw forward instead of too the right; her gait is so much improved, her feet are much closer together and she walks faster and farther than before (unless she’s lazy 😉 ) Her swimming skills have jumped- her arms move in synchrony and she is able to climb out of the deep end of the pool without assistance nor an actual ladder, just the holes cut into the cement.
Her ability to problem solve has become problematic as it is difficult to keep her out of things now. She will go into the refrigerator and search for what she wants, moving items around until she’s found it. Unfortunately, she can now open most things- milk, deli meat container. the grapes etc. and if I’ve stepped out of the living room, I find things in very odd places around the apartment.
Language skills: This is the one area I had hoped for more progression based on her trial experience. However, she is babbling much more, her words are clearer, and I don’t have to interpret. She’s been able to tell a couple of jokes- like the time the bus driver said someone stole his car and it ended up in a lake and she laughed and said, “It drowned.” She’s choosing books a bit more often than the iPad; mind you those skills have skyrocketed, and she knows the YouTube icon and Pandora and choses what she wants. One of my favorite things is she’s begun to like chapter books and being read more advanced books than Dr. Seuss.
One really interesting this is her verb use is now including present and past tense. So she used to say, “stay in” which has now become “staying in”. She used to say “leave?” Now she will say “leaving” and ‘Left” and has progressed to, this then that- go in car go leaving, go to store, go eat.
Physiological changes: Though what I discuss now was in no way part of the trial, I think it is important to discuss. Just because Daybue is approved for Rett syndrome does not mean that it is the ONLY thing which it can help with. In Rett syndrome, Daybue helps to regrow the dendrites, the telephone wires that pick up the brain’s signals and sends them where they need to go. How it does this isn’t exactly known. What is known is that trofinetide is a modified portion of the Igf=1 molecule responsible for “brain repair” in general. My theory, based on Katelin’s response in other areas, is that if trofinetide can help fix something “off” in the brain, it will.
Katelin has PCOS, I won’t go into all the symptoms of this, but I can say with all certainty that since on Daybue, all the symptoms she has demonstrated have improved or completely disappeared. This is a remarkable medical finding, in my opinion, as PCOS is one reason for infertility in the US. On a personal note, I’ve been able to grow her hair long and can once again braid it, which we both love. One thing that I will note as a query-I know some females on birth control have had breakthrough bleeding and I wonder if trofinetide knows something is “off” and is trying to correct it. Just a thought.
July 2023Sept 2024
Secondly, through a totally random occurrence of having taken a pre-Daybue infrared scan picture, I have shown that, at least in Katelin, her hands and feet show normal circulation/heat post Daybue. Couple that with the fact that she has begun to sweat really gives me hope that the temperature dysregulation in Rett syndrome may be reversed in some. This would probably be the most medically significant change as overheating is a real danger to our children.
Hands and feet showing as blue/cold
Taken in summerFeet are red, taken in summerHands are red
Taken in summer
So, how can I sum up this year. “Damn, that was hard.” But I know that what we do here in the States will benefit those around the world. We are in the last, great trial of Daybue. It’s not for everyone, but it can be for more. I am so encouraged by the incredible stories I read about- more/better communication with Tobii’s, children and adults reaching for things, petting animals, making choices, saying first words, walking for the first time or the first time again. This is the miracle of Daybue (trofinetide) and I’m definitely here for that.
I’m so far behind on posts it’s not even funny. Katelin is still not in a day program and so our days are filled with going here and there, trying to keep her ever evolving sense of “there’s more out there” entertained. The heat is nearly unbearable, and our choices are limited- the mall, the very shady zoo, the Children’s Museum. Today, however was not like any other day. We had a huge chunk of time and filled it with the California Science Museum.
There’s a lot packed into three small floors, some aquariums, hands on experiences and a large exhibit devoted to space exploration- the final frontier- and tucked away between two other exhibits was an infrared reader. And the day became unlike any other day.
I’m not sure I can adequately explain what was happening inside of me when I saw that little scanner. Wondering, building upon itself, fidgeting waiting for our turn, almost afraid to dare to hope and hoping more and now wondering out loud, someone saying I could go ahead of them, but NO! I wanted no one waiting behind me. I think they were quick at it because I was acting just a tad bit like a person I might not want to be too close to either. And THEN…it was time to find out the answer. I felt like bees were buzzing all up inside my skin.
What answer, you ask? What colors would it show on her hands and feet. The last time we were there in the summer it showed her hands and feet as blue. And I wondered- would they be red this time??
I pulled her up close, I raised her hand and… it was RED!!! The very same as mine. I felt like I hit the lottery, the jackpot, the gold medal of waiting out trials to WIN irrefutable proof, scientific proof, objective proof that Daybue had made a physiological change in Katelin’s brain. Do you KNOW what that felt like??? Can you guess??? I held up her right hand, her left hand. “Oh, oh, her feet, I wonder about her feet!,” grabbing her shoe and sock off and pulling her foot up high enough, grabbing a person in line- “take a picture of her foot!! No, no, the one on the screen!” That beautiful red little foot.
Hands and feet showing as blue/cold
Taken in summerFoot is red; Taken in summerHands are red
Taken in summer
I jumped, I spun in a circle, I cried. I felt like a person who had made an actual scientific discovery, one I had hoped for, like an amateur astronomer who discovers a new star. Katelin and I helped to make this discovery possible. I felt every bit as proud, overwhelmed, and simply beside myself as I imagine anyone who chanced upon a discovery would. This will be a moment I NEVER forget- the day I proved Daybue may be the answer for some when it comes to temperature regulation, and it may improve the medical quality of life of some of our children.
A day unlike any other day which no one can take from me. I live an incredible, fortunate, improbable life; what a ride.
What a month, glad it’s over. Katelin will be needing to start a new day program, but I look forward to the change and am optimistic for better leadership and communication.
It’s been a bit of up and down month for Daybue. Mainly, Katelin has decided… ENOUGH BANANAS! Bananas being the first ingredient in the BRAT diet, the diarrhea came back with a vengeance.
I learned that the peppermint I gave for gas made her reflux worse. I learned that the medicine I gave for reflux had been causing adverse effects which I attributed to Daybue (they were started at the same time); so almost a year. Mom fail big time.
I had to rethink a lot and stop for a few days. But, once I put together ANOTHER new plan- in the last few weeks some pretty incredible things have happened ❤️
I’ve been watching the progression of her right arm usage for the last year. Slowly, she has used it more and further from her body. This is significant because she was temporarily paralyzed on her right side after seizures at 3 and she’s been a steady southpaw since.
About three weeks ago, Katelin extended her right arm all the way. This hasn’t happened since age 3. She couldn’t reach a cup with her left, so she just shot out her right, grabbed it and transferred it to her left.
This past week two things stand out. She picked up the broom and began sweeping the patio, she’s done that twice. She’s only using her left right now, but baby steps!
The other skill she’s discovered is a bit problematic for me, lol. She likes the front door open and I would put chairs in the way so she couldn’t walk out. A few days ago, she PICKED UP the chair, held it in front of her, walked it down the walkway, put it down, and then sat down in it. You could’ve knocked me over with a feather n CA ree we r a a. X .
Since then, no matter what I put there, she finds the way out. Incredible.
She’s also choosing to walk more often which I certainly approve of. 🙂
“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 😉
Trail to a Texas Trial 