October Siblings

sistersThis post, from three years ago, really struck a chord in people. It was the highest viewed post ever. And, the most shared. Rett syndrome Awareness is not just about Rett syndrome, it’s about the families who love them….

One of the overlooked impacts of Rett Syndrome is that on siblings. In some ways, it’s a good impact. Our other children are usually empathetic to disabled in public, stick up for their sisters and brothers in front of others. Debbie once told me she can tell her “sister secrets” to Katelin because she KNEW that she would never tell anyone. But it’s a two sided coin. They also suffer.

They suffer the loss of a sibling that they were counting on to be their friend, teammate on the neighborhood basketball team or baseball team. They lost their tea party planner and guest and Barbie pretend player. They won’t ever share clothes or talk about boys and giggle.

They have to do things “normal” children would never even think about-help restrain their sister or brother when they are out of control, watch and give the heads up if a seizure starts, run for enemas and diapers and wipes for their grown sibling. They lose sleep when it’s a screaming night, their grades suffer, their social life suffers, they are also the silent victims of Rett Syndrome.

These children, that need their moms and dads, don’t get them. The child with Rett syndrome takes precedence every time. Can you imagine your 16 year old just had her heart broke and needs you, but Rett syndrome says “too bad” and your other child needs feeding, diaper changing, is throwing a fit? Who can she cry to, then??  For some, you only get to one baseball game or soccer game and it’s not the one your other kid scores in? What a loss for both of you. Others, it’s countless days at the hospital, and barely seeing their other children. Oh, and the holidays, also known as our least favorite days of all. How terribly sad is that. Christmas isn’t something to look forward to, it’s a day to dread- When there’s no where to go, routines are totally interrupted and presents are taken as soon as possible into other rooms, and life returns to the same old doldrums routine; not to mention summer vacation is something to be survived if at all possible.

The siblings, oh, they struggle. How stuck are they?? They love their sister/brother, of course, but how can they separate Rett syndrome from it’s personification in their sister or brother? What does it matter when they can’t go to the zoo, or their mom can’t go to sporting events, or school functions or when people ask “what is the matter with your sister? Why is she drooling?” Their life is so full of loss it’s heartbreaking. I wish I could take back all those sleepless nights. The days they stayed home from school just so they could sleep, the failing grades during difficult times, when every night was like a battle.
I grieve for my other children as much as I grieve for Katelin, and I can only hope that they realize later, that we did the best we could as a family, that there were some pretty spectacular times, some special moments, that didn’t include their sister, but that there were some pretty spectacular ones that did.

There are of course times when none of this is true, when everything is going ok. When laughter abounds and sometimes “good” goes on for a long time; But the threat of the opposite is always there.

That is Rett syndrome, constantly peering out of the shadows waiting to strike, and I have as often yelled at it to leave my other children alone as I have Katelin. And when effective treatment/cure comes, it will be for my other children as well. How grand it will be for them to meet the sister that was taken so many years ago.

Posted in anxiety in Rett syndrome, boys with Rett syndrome, Rett Syndrome, screaming in rett syndrome, Uncategorized | Tagged , , , , | Leave a comment

Grieving a Child Gone, yet Still Here

#2For many parents, I’d almost dare to say all, Life can be categorized as “Life before Rett syndrome” and “Life after Rett syndrome”. My daughter, Katie, is 24 now. For 22.5 years I have loved the child in the “Life after Rett syndrome” and grieved the child gone from “Life  before Rett syndrome.”

Before Rett syndrome, my girl was so happy; I can still see her bouncing her little diapered bum when she threw something in the trash can, such a big, little helper. I remember her crawling on the floor, picking up my keys and going to the door and trying to unlock it-she wasn’t even 6 months old. Oh, how SMART she was. So full of giggles and laughter. She had a ring of plastic beads and I’d say “Pretty Princess” and she would put it on her head like a crown. And, when I’d say “What does a dinosaur say?”…she’d roar the cutest little roar ever. Even remembering it now, all these years later, the tears are streaming down my face. My sweet, baby girl, stolen from me by Rett syndrome.

And how can you explain to someone when you are crying for your child that is still right beside you, that your pain is so great. It’s not just that your child was taken, it’s that you feel like your child is trying to reach you, to find YOU, to be back, too. And neither of you can make it happen. It’s a knife in the heart.

Life before Rett syndrome held dreams that were not only possible but probable. You held your sweet, perfect baby and saw sports teams and trophies, a first kiss, first love, the prom, a wedding, a baby for them. You saw pictures on your refrigerator, snuggles in bed and tickle fights, you saw a time when Barney and Sesame Street would one day move the heck on out of your house. You saw an end to diapers and mounds of laundry, and all those planned endings would just be the start of new beginnings. And the thief that stole your child, stole all that away, too.

And there you are-left to cradle a living child and grieving for all that was now dead to you. Grief gets easier to bear, except when you see children on a playground climbing up a slide and your child can no longer walk; it’s easier to bear until you are holding your daughter or son in bed cuddling…after a seizure; it’s easier to bear until prom comes along and no handsome young man is going to ask your girl to her first dance or your son is not pulling at his necktie nervous as all hell as he knocks on his date’s door; it’s easier to bear until your younger children surpass their older sibling and help feed them, run for diapers, wipe drool from their mouth, have to defend them at school. It’s easier, until so many times it isn’t.

And those were just MY dreams. What about Katie’s dreams? I grieve for them as well. What would she have been? My girl loves space, so I imagine she would’ve been a scientist. All these could’ve beens, SHOULD’VE beens. They haunt me at times. Yes, in the Life after Rett syndrome there are amazing times. You learn to appreciate every little thing in life, a breath, a heartbeat, a new first word, laughter, hand use, a step. And you love this child fiercely, your child. This is how I know Love is supreme, because it is strong enough to exist in the conundrum of “the child I had is gone for ever, this is the child I have now and so I will love this child to my dying breath” even while suffering such a great loss.

Who Katie is now, is amazing. She is kind, empathetic, compassionate. She is part leprechaun, I say, because she is a jokester. She doesn’t care what color people are or who they love. Everything about her is pure, every emotion is real. She doesn’t have it in her to lie. She is an incredible human being; she’s brave and daring and has to fight every day to win a battle against Rett syndrome. I like to think that each fight she wins, she’s saying “I’m still here, mom, I’m trying hard to get back to you.” And, yes, in many ways I’m lucky. I have a child who will never leave me. I will always get to experience Life in a wondrous way full of small miracles, because of her. But, whether it makes sense or not, I will still always grieve.

Does it seem I am so ungrateful? That my child is alive and so what is wrong with me? I suppose it does. But, you see I am a mother who has to live with grieving a child gone, while loving the child I have and they’re both the same. I love them both, I just miss one.

Posted in boys with Rett syndrome, cure, fund-raising for rett syndrome, Rett Research, Rett Syndrome, Special needs siblings, Trail to a Texas Trial | Tagged , , , , , | 103 Comments

A Month of Awareness



Thanks to Army of Us for a fantastic Awareness poster!

October is Rett syndrome Awareness Month. This means of course to make OTHER people aware of Rett syndrome; for us parents, siblings, grandparents, caregivers the whole YEAR is awareness month.


So, how to make people aware? There are so many ways and we each find our own, simple but effective ways.

I am going to use this first post this month to list the ways we, who love these children and adults, have to be aware. Every. Single. Day.

  1. If our child isn’t awake on time…no matter how old they are…we check to see if they are breathing. We NEVER assume they are just sleeping in.
  2. We watch their eyes. What are they looking at? What do they want? It’s exhausting to be responsible for noticing a flicker and then feel like the worst parent ever, if you miss it.
  3. Are they in pain? Then we have to search for it, like detectives. We have a mental list we go through, head to toe. If we can’t figure it out, we go to the ER. Imagine having broken your arm or leg and not a soul in the world can guess because you can’t speak. Then we are very aware of the GUILT of having missed it.
  4. We have to figure out what is making them upset. This could be ANYTHING-as simple as a favorite toy not being where it’s supposed to be, not having their favorite program on, or even something that happened at school and you have no idea occurred.
  5. We have to keep track of feeding habits. Do they scream after eating? Could be reflux or gall stones. Are they losing weight? Do they need a feeding tube? Can they swallow? They coughed….did they aspirate? Will they get pneumonia, now?
  6. We have to know they need a yearly EKG.
  7. We have to know they need scoliosis checks/kyphosis checks.
  8. We have to think about if/when we should do surgery.
  9. We are aware of who’s in the hospital, we watch their parents chronicle the hospitalization, we see when it goes south, we are there in spirit when parents have to make decisions we never want to make, but are always in the back of our minds.
  10. We have to be aware of what is going on in schools, day programs, how can we make the experience better, how can we educate children who can’t speak?
  11. We are aware EVERY. SINGLE. DAY. that most likely we have somehow failed our children that day by missing a glance, a tear, a sigh, a sound, an effort.

That is how I view Rett syndrome Awareness. Our children need a treatment, a cure. Because the most important thing we are aware of….

Time is not on our side.

Posted in Army of us, cure, fund-raising for rett syndrome, Rett Research, Rett Syndrome, rettsyndrome.org, Special needs siblings, Trail to a Texas Trial | Tagged , , , | 5 Comments

We are Nearing the True Unknown


Boldly going into the unknown

So, we are closing in on the third and final pivotal trial of Trofinetide. It is my understanding that Neuren and the FDA are meeting in October. Sometime next year the study will begin recruiting and start. What the criteria are, the end goals are etc. are still not published as far as I know.

But, because there is definitely a lot of buzz about it, parents are beginning to really contemplate-What will Trofinetide mean for my child?!?

I think that’s a very natural question and fear, actually. I believe I know to some extent what it means for Katelin, but at over 5x the dose she received (or didn’t receive) I can only guess. I mean 5x the dose! So, I think- will she do 5x more in the same short time? or does it cap out for older girls somewhere? I had a glimpse and so did Katie. I know she wants a phone and a car, a black one. I think you can guess which she’ll get, lol. But, her articulating to me that she believes she will talk and wants a phone is HUGE. So, is the fact that she wants a car, but even if Trofinetide fixed EVERYTHING she’s only 4.5 ft tall, I don’t think she can reach the pedal, thank goodness. But, parents are wondering other really significant things.

My child never talked-what kind of therapy is  going to be needed.

Will it be like starting over with a baby?

My girl is 40 or older, do I give it to her?

There’s so much unknown, there’s so much Hope, and there’s fear.

Fear that it won’t work on a particular mutation; that it won’t work on their child; that it WILL work.

These are all understandable fears. Even I, a true believer in what may be possible, am a bit afraid.

Afraid? you say. You! Oh, yes.

I Am afraid of the unknown-how will Katie’s and my relationship change if she can talk? What if she says she doesn’t want to live at home? She has been my focus for 23 years, controlled to some extent everything I do and when I do it. What if she can’t come to terms with the fact that she’s had to use diapers/pull-ups as an adult and realizes not everyone does that. How will she feel when she gets angry and doesn’t resort to banging her head, only to realize the damage she’s done over the years. How will she feel about herself in this (almost certain) new awareness of herself, her disability, her memories. How will she feel when she looks at the scars on my arms and knows that she put them there? How will she develop a new relationship with her siblings-one not based on disability but equality of language and memory. Will she forgive them for their resentment, will they accept her and forge a new relationship with her. One thing I know for sure is that if Katelin can talk, we are going to a counselor. She will need help to process what is happening to her, to us as a unit, and any possible past trauma she can finally speak about.

But, what I do NOT fear is showing her the world and taking her lead about what she may want to learn, where she may like to go. I’ve been in “Holland” so long, I’m excited about finally maybe going to Italy or Ireland or the next state over without worrying. I look forward to being able to go somewhere alone, knowing that she can tell me everything that happens while I’m gone. No more scared to death of what the untold might hold.

There is always a lot to fear in the unknown. It’s like those first astronauts stepping into a teeny tiny capsule that would take them to the moon and back. Really, that “back” must’ve been in their minds all the while, no matter how much faith they had in the science. How brave they were. How brave WE are, our children and us, to allow ourselves to face such a rare opportunity- to truly dare.

So, as we approach this deadline that we have waited and waited for, bravery is called for. We must be brave enough to face our fears. Maybe that means not giving Trofinetide to a woman who’s 40 or 50 when all their lives their parents have hoped for the day. Maybe it means facing that “empty nest” you never thought you would have. In the end, we don’t know what any of us may be facing. All the trials have been too short really, we just won’t know until we get there. Much like being new parents-you never know what life holds in store for you and your new child, but oh the promise that can be.


Posted in acceptance, boys with Rett syndrome, Communication, cure, FDA, hope, Neuren Pharmaceuticals, Rett Research, Rett Syndrome, Talking, Trail to a Texas Trial, Trofinetide, Uncategorized | Tagged , , , , , , | 2 Comments

What to do When you have No More Options?

In Rettland, as coined by Colleen English, there are many times you run out of options. There just isn’t any more medicine and science can do. What do you do then???

Some parents are faced with the awful, horrible truth that truly nothing can be done and they have to make a decision let their child go or keep fighting with an inevitability end even then. Some opt for an option that will save their lives and put even more burden on themselves, and they do it, because, well what else can you do. Those are the heartbreaking choices; when options run out, some place their faith in God, some in if they can hang on  a bit longer, than a new option may present itself, some to both.

I am fortunate. I am facing a “what do you do when you have no more options” scenario, but it’s only about behavior/mood/aggression.

Aggression can be a tremendous consequence of Rett syndrome and it can be a lonely state as many parents are afraid to say how aggressive their children can be. Usually, it is the higher functioning girls that are aggressive. Katie wears a helmet almost non-stop inside buildings because she will head bang out of nowhere; she’s been known to put holes in walls with her head and helmet. And without medication, she can become extremely aggressive. My posts are often met with comment after comment of the same, similar pictures, scars, stories-like being in an abusive relationship but you simply cannot get out of it.

The medicinal combinations Katelin is on for mood control has caused her to gain a tremendous amount of weight. So much so, that now the real threat of diabetes is at hand. And so, it had to go. But, because Katelin is allergic to so many classes of medications, I’ve been told several times there is nothing else to try.

I have only one place to turn now and that’s to naturopathic options. They scare me. They’re not regulated, some come with possible side effects that seem fairly dire if you ask me. I reached out to the community and was given many responses,  but a few were mentioned several times. So, began the search. What would be the best solution for Katie. Many things I would try were combined with things I had crossed off my list, so I’m left with buying individual options and hoping. This is not an inexpensive undertaking and in the meantime her behavior flows.

But, in all honesty, I’ll take this “What to do when you run out of options” to the many heart-wrenching ones made every day  by so many parents. But, in the end, we are running out of options, in so many ways that affect our children daily.

Please, World, hurry up and save them.

Posted in cure, Rett Research, Rett Syndrome, Trail to a Texas Trial, Trofinetide | 1 Comment

The Bleacher Seats

Dolphin Stadium BallgameI read an article yesterday from the Bleacher Report about the race for a “concussion pill”. It went on an on about mouse models stage research and there really isn’t even a possible solution in sight just yet. So, being me, a staunch believer in Neuren’s science and Trofinetide, I just had to write….


“Dear NFL, I know you are looking for a solution to the “concussion crisis” and know that there are several research tests going on but that they are merely in the mouse model stage. I want to make you aware of a drug already in the human clinical trial stage. Trofinetide, made by Neuren Pharmaceuticals, has already had a ten year TBI trial through the army. While it ultimately did not decrease mortality rates, those that did survive had better function and better recovery. This trial was conducted with extremely low dosages on very injured men and women. There are now trials going on in dosages many times those used during this trial. Several mitigating factors were discovered- 1. the dose was miniscule 2. given by IV it was diluted and since many of the wounded received medications for water retention and swelling it was flushed from the system sooner than anticipated. But, there was no denying that those who received it and lived, did better. Trofinetide comes in a liquid form and has been shown to be well tolerated in adults and children at dosages much higher. The lowest used in the TBI trial was 1mg/kg. The highest dose used in children is 200mg/kg. Neuren is also developing NNZ-2591 a “cousin” of sorts to Trofinetide. Other than the TBI trial, Trofinetide has been found to be clinically significant in Rett syndrome and Fragile X. Basically it is a modified version of a portion of the IGF-1 protein that is responsible for brain repair. As a parent who has seen a marked improvement of my severely disabled child, non-verbal to speaking sentences during her trial experience, I would be remiss in not bringing this to your attention. Since the company is in Australia, you may not have heard of it. Here is a link to Neuren’s page that discusses concussions- http://www.neurenpharma.com/irm/content/nnz-2566-in-traumatic-brain-injury.aspx?RID=332

In any case, I felt it my moral duty to let you know there may already be, if not a solution, a drug that can significantly decrease the effect of concussions on your men.”

It pains me to think that the NFL may not even be looking at Trofinetide. Maybe it’s not the answer, but MAYBE it is. And it’s already here. Those other drugs are in the bleacher seats, Trofinetide is sitting squarely on the field at the 50 yard line.

Update: wrote to the Players Assoc. too, because they had an actual email I could find.

And Tweeted to NFL and NFL Players. Here’s hoping someone becomes interested.


Posted in concussion, Fragile X, Intrepid 2566, Neuren Pharmaceuticals, NFL, TBI, Trail to a Texas Trial, Trofinetide | Tagged , , , , , , , , , | 3 Comments

You scream, I Scream (on the inside)We all just SCREAM!

screamingSee this picture here. This is our life, a roller coaster, but our kids are not screaming because they think it’s all fun and games and neither are we.

I’ve seen a lot of post lately, from new parents and parents whose children are entering a screaming phase. Some scream all night, some in the day, some when your attention is divided, some in a new pain you can’t find, and you’ll swear some just scream for the want of screaming. To put it bluntly the screaming can nearly drive you out of your mind- you’ll cry, you’ll be sleep deprived, you’re on edge every second waiting for the next scream, you’ll want to scream, omg you just want some SLEEP! Every bit normal.

Now, Katie rarely screams like that anymore, but from 1.5-11 or so she did, she screaming for hours, and back then the docs would say…aw, it’s just Rett’s, you’ll have to deal with it. Thank  goodness times have changed. But, why do our children scream so much.

Here’s a great blog post about screaming during regression from Grace for Rett. It comes with some great tips, too. But regression is not the only time screaming will occur. With little if any verbal communication possible, screaming becomes communication.

I know Katie will scream if she’s bored, or if she’s hungry, frustrated, mad- but getting to the root of the problem is often difficult especially with the “mad”. Why is she mad?? What happened in her environment that changed and she didn’t like. What phrase or word was said? It is always such a struggle trying to figure out the emotional reasons why. And, how do you deal with it?? Every parent can read their child, for the most part, they can see it coming, and speaking on a personal level, I can tell when she’s on her way to full velocity and my stress gets higher and higher the closer it gets and I get a bit desperate to figure out what’s going on before things start flying.

I deal with different reasons different ways…if it’s clear she’s bored, and I can, we go out, anywhere, even if it’s just a drive listening to music. If she’s beyond mad, I try and talk to her… why are you mad? Is there a way I can help you? I want to help you, but I can’t help you when you are so loud. You need to “talk” to me in a quiet voice. And I commiserate. I don’t always know what I’m commiserating about, but it shows I’m listening. I’ve found that the key is to keep my voice very calm despite my stress level to demonstrate to her that she can calm down. If she’s frustrated, I try to redirect to something she can accomplish or ask if I can help. One of her quirks is when she gets super frustrated her shoes and socks just MUST come off, and just by helping her do that goes a long way in calming her down.

But, what if it’s pain? Hearing her say “owie” and crying is my worst fear. There’s a physical reason for her crying. Then begins a whole session of palpating on the abdomen, rotating and manipulating limbs, checking for appendicitis over and over again, and I have medical training. I can’t imagine those parents who have to figure it out on their own. Is there a new bruise? Did something happen out of my sight, at school, with the aide? What did I feed her? When was her last bowel movement. Our minds just go flying out the window. And when no culprit is found, off to the ER, most often to be told there’s nothing they can find.

And, yes, there are times we never figure it out, though we reach out to other parents…has this happened to your daughter/son? And we all try our best, searching our own databases of minds to remember what it was one time or another that caused it.

But, screaming is part of the Rett experience for many. And those parents need help. If it’s screaming at night, you NEED your sleep, your family NEEDS sleep. Talk to the doctor about options, they’re out there. If it’s after eating, no matter how young, check for reflux and gallbladder issues-notorious in young Rett children.

The main thing to remember is-YOU ARE NOT ALONE, you aren’t doing anything wrong, your child is not the only child doing this, and if you reach out you will get many, many responses from parents going through or who have gone through the very same thing.

Another thing to remember is that children deemed “high functioning” or “less affected” tend to have more of  these behaviors, including aggression. This is commonly known, so don’t be afraid to talk to the doctors about it. You don’t have to suffer in silence. Your child doesn’t hate you if they beat you, bite you, pull your hair etc. Common knowledge tells us that children will often take out there fears and frustrations on the ones they love the most because they trust them the most and they have no other way to ask for help.

When Katie was growing up, doctors were loathe to prescribe medication to address this behavior and our whole family suffered. Many parents, like me, wear the scars because of it. I have bite marks, scratch marks, and unfortunately she didn’t just rip out the gray hairs. But now, with a medicine regimen that helps her sleep and contain her behaviors for the most part, she can focus, she can (usually) use coping skills to calm down and I rarely have to administer meds to break her from a screaming fit. One important weapon in my arsenal is her anti-acid-when she screams for a long period, this causes reflux, which then becomes the reason she keeps screaming, so a dose of that helps a great deal in difficult moments. When she’s not in pain we can work together to solve the initial problem.

Parents and caregivers know when something isn’t right, but there can come the time when medicinal intervention is needed just so you can distinguish frustration screaming from pain screaming. Rett is never an easy road, just remember you don’t have to travel every or any part alone. Reach out and you’ll find there are others on the same one.

And one thing I do, after a difficult morning and I finally get Katie to school is treat myself to an ice cream cone. So, don’t forget to treat yourself after a hard time, you deserve it.




Posted in anxiety in Rett syndrome, Communication, Rett Syndrome, screaming in rett syndrome, Trail to a Texas Trial, Uncategorized | Tagged , , , , , | 2 Comments