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

Following the Yellow Brick Road!

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Usually, he’s the one doing the protecting, lol.

I have been quiet of late, a lot go on in the Rettland we inhabit. A bunch of common stuff for Rett syndrome came up, doctor appts and training Katelin’s service pup, Flynn, has taken up a LOT of my time. But a few BIG things have happened since last I posted. First, Katelin turned 24!! That is two times the age I was told she would live to. So take that Rett syndrome. So, that called for special times as family flew in from Massachusetts and Seattle and her old aide, Betty, came to stay for a week and both got treated!

We’ve been kept making presents and other artwork at Color Me Mine and hanging with the grandkids.

Not to mention concerts, plays, baseball and softball!!

But, I need to acknowledge tremendous news about Neuren and Trofinetide.

Neuren has secured the funding to move ahead with the Phase III trial. See their announcement-here and will be meeting with the FDA this summer ” to discuss the remaining development for trofinetide to treat Rett syndrome, including the Phase 3 trial design.”

The golden bricks are being laid out one by one now, very quickly but carefully! No tripping us up, now.

I also want to comment on an old article from Psychology Weekly that’s been making the rounds on Facebook about the reversibility of Rett syndrome and how they talk about medications that may do what activating the “good gene” would do- regrow the dendritic halo. That is the goal of Trofinetide and what it has been shown to begin to accomplish during the short trials that have occurred. So, for those that worry that gene therapy may come too late to cure your children, there really is hope in Trofinetide being able to modify the course of the disorder, as their report on the Phase II results mentions.

Believe me, I know it’s hard to be patient. It seems like FOREVER, but next year is now less than 6 months away, the new and LAST trial will be upon us soon. And, then, perhaps our children will be as in the words of Martin Luther King, Jr. “Free at last, Free at last.”

 

 

 

Posted in baseball, cure, hope, Neuren Pharmaceuticals, Rett Research, Rett Syndrome, Trail to a Texas Trial, Trofinetide, Trofinetide Pediatric trial | Tagged , , , , , | Leave a comment

Mother’s Day in Oz

poppiesI often say that living with Rett syndrome is like traveling in Oz with the Scarecrow, Tin Man and Lion. So, what would Mother’s Day look like there? I think it would happen in the Poppy Field.

Such a beautiful flower, not so unlike the bouquets many of us will get this year. But, it’s a day that makes many of us weary. As we trudge through that day, we just want to sleep. This journey is so hard. And, it’s not just the journey; it’s also the day that makes us weary. We spend part of it cherishing the children we have and we spend part of it mourning the children we’ve lost, whether it is the child we remember before Rett syndrome struck, or the child that was taken altogether, and for some the children that were not taken by Rett syndrome, but who were loved and lost all the same.

So, there we are. Amongst beautiful flowers and our daily travelers. The Scarecrow-our child who trips and falls and is so smart, but whom many people think doesn’t have a brain with an intelligent thought. The Tinman- so stiff and needing oil (therapy) all the time. And the Lion-that’s us moms. So many of us wondering how can we go on???? Convinced that we lack the courage and strength to make it to the journey’s end. And, like the Poppy Field, Mother’s Day can do us in. It can be just too much. And that is where we want to lie down and sleep. To forget. To dream. To stop-like the Lion and Dorothy.

And who is it, then, that comes to the rescue? The Scarecrow and the Tinman. The two that have needed so much help along this arduous path, they are the ones that come to the rescue. And so, our children, all of them, come to our rescue. They lift us up, they carry us through the day and we realize that their courage is great, their strength is wondrous; not just our children with Rett syndrome but the sometimes forgotten siblings who walk along, often on the sidelines, guiding us and putting us back on the path to the Emerald City when we veer off the path.

And those sweet ones who’ve left us- I cannot fathom how their mothers make it through this day, but they do- I can only say, I believe no love is wasted, however short it was with both on Earth, Love lasts for ever. The small, wee hand that wrapped around a finger must ever be wrapped around a mother’s heart. The heartbeat that was heard only within the womb is still an echo for ever and must reverberate within each mother’s soul.

I know that Mother’s Day can be bittersweet. But, in the end, while we may dwell a moment on the bitter, sweet will win the day. For the real bouquet that matters is the hearts that have loved beyond all measure, the color of poppies, but spread in a field of Life. And we will be carried through that field by the memories of all those who made us mothers.

 

Posted in Mother's Day, Rett Syndrome, Special needs Mother's Day, Uncategorized, Wizard of Oz | Tagged , , , , , , , , , , , , , | 1 Comment

Poetry Month: Strength Inspired

I thought a lot about what should be the last poem I posted for Poetry Month. Should I go with hope? accepting your lot in life? the poem about the little girl who still counts her dead siblings as alive when asked “how many are you?”, for certainly all the families that have lost their child still count them, they’re still here among us, not one forgotten by those who’ve loved them. Should it be about how happiness is a crystal ball that becomes fractured and we should be content with the pieces that we find? Because, absolutely all our families find things to be happy about…a step, getting out of the hospital, a spoken word, a conversation on the Tobii.

But, as I sit here, tired, tired of all the little things and big things that come with Rett syndrome- which medication is best, weighing the pros and cons of back surgery, going on  Facebook and seeing who’s in the hospital, who’s made it home, I feel resolute. I am not going to bow my head to Rett syndrome. There are parents out there who have to be so much stronger than I to face each day and there are days when we are all at our wits end.

Our hearts are battered, we are beaten down, but each and everyone of us stands up. We are like the soldier carrying their fallen comrade across enemy lines, to safety. And we face Rett syndrome everyday, determined that it will not beat us, that we will find a way, whether it is for our children or for those to come, to make a difference.

No matter what is sewn into the tapestry of Life or written on the scroll, we are Human. We have been gifted the ability to face our fears, fight them head on, to Hope beyond all reason that adversity can be overcome, we challenge what Fate seems to have in the cards. Like Robert the Bruce and the Spider tale, we find our inspiration in the smallest things; the coward who throws away Opportunity? We pick up that sword and carry on and will one day win. We’ll beat Rett syndrome. It’s just a matter of time.  And so, I’ve chosen “Invictus”  Our heads may be bloodied but they remain unbowed.

INVICTUS

Out of the night which covers me,
Black as the pit from pole to pole,
I thank whatever gods may be
For my unconquerable soul.

In the fell clutch of circumstance
I have not winced nor cried aloud.
Under the bludgeoning of chance
My head is bloody, but unbowed.

Beyond this place of wrath and tears
Looms but the Horror of the shade,
And yet the menace of the years
Finds, and shall find me, unafraid.

It matters not how strait the gate,
How charged with punishments the scroll,
I am the master of my fate:
I am the captain of my soul.

William Ernest Henley

 

Posted in cure, hope, Rett Research, Rett Syndrome, Trail to a Texas Trial | Tagged , , , , , , , | Leave a comment

Poetry Month: Pain inspired

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Many, many years ago, while taking a course in college they gave us this book of poems, rather we BOUGHT this book of poems. And it is my favorite. I still read it from time to time. One of my favorite discoveries after my beloved Aunt Gloria passed away (we share a birthday) was that she had the exact same book and now I have both. Sometimes I flip through to see if we ever wrote the same thing in the sidelines.

When Katelin was first beginning to regress and the doctors threw out numbers like …dead before 5, won’t make it to 12, and I needed a good cry, I turned those yellowing pages to… can someone have a favorite grief poem??… a poem that touched me deeply as a mother, even though I am an atheist. In this poem, the first night of being without her girl, a mother sends a plea to Heaven. One even my non-believing head might allow my wishing heart.

There are always so many girls and boys leaving us. It is the greatest heartbreak of connecting with families, that these beautiful children you’ve cheered on, cried for, clapped for, who beats the odds so many times, finally fly through that final door.

I’m sure we all think about “when”. Not that it consumes us, but there is always, always that fear…will these be the last good night kisses. Will this be the last time she’ll rest her head upon my heart. And I think, please, please on that last night, let her dreams be filled wonderful, beautiful things. And, my girl for the most part is perfectly healthy. I cannot imagine what medically fragile children’s parents go through.

In any case, this poem allows me to cry. It touches my mother’s heart; it is every mother’s hope, that as our child leaves our caring arms they are welcomed into equally caring arms. At times like that, I don’t question the confliction between my views and this hope. Poetry is meant to touch and heal and make you ponder. That is enough reason. And, I am grateful for the written word.

Prayer for a Very New Angel

God , God , be lenient her first night there.
The crib she slept in was so near my bed;
Her blue-and-white wool blanket was so soft,
Her pillow hollowed so to fit her head.

Teach me that she’ll not want small rooms or me
When she has You and Heaven’s immensity!

I always left a light out in the hall.
I hoped to make her fearless in the dark;
And yet, she was so small—one little light,
Not in the room, it scarcely mattered. Hark!

No, no; she seldom cried! God, not too far
For her to see, this first night, light a star!

And in the morning, when she first woke up,
I always kissed her on her left cheek where
The dimple was. And oh, I wet the brush.
It make it easier to curl her hair.

Just, just tomorrow morning, God, I pray,
When she wakes up, do things for her my way!

 

Posted in grief, national poetry month, Poetry, Rett Syndrome, Uncategorized | Tagged , , , , , | 1 Comment

April is Poetry Month-Katelin Inspired

tyler_23-235x300One of the first “poems” I wrote that was inspired by Katie was actually turned into a book! “Tyler and the Spider” is a story of acceptance, no matter the differences. It’s meant to show that being nervous and afraid is not one sided, and that with just a bit of understanding these differences can be overcome.

Having a disability doesn’t mean you can’t be talked to. It doesn’t mean children can’t ask questions; my goodness how are they to learn but to ask questions? Yes, there are things that are “different” about our children and adults with disabilities-sometimes they can’t talk, they may move funny, they may spit, have seizures, vocalize in odd ways that, in the eyes of a child or parent that hasn’t had much experience with something like that, may be disconcerting.  And,  it can be unnerving, make people anxious; they just aren’t sure how to respond. Do they approach? Will they offend if they do? Maybe they are made aware in that moment just how fragile life can be and that truly no child is safe, so they  move to protect their child not from ours but from the sudden fear that it “could be my child”. Or, they could just be rude, because that happens so much more often than it should (which is never).

And, disabilities aren’t the only obvious differences that cause misunderstanding… it can just as easily be glasses or braces or skin color; it could be an accent, a style of clothing. Maybe even that a child is adopted or in foster care. Maybe they have a parent in prison and are being judged for that or an immigrant. Truly it could be anything that makes another person “stand out”. And, I believe, “Tyler and the Spider” addresses these fears from both points of view-of a boy and of a spider. Everyone would guess that the boy may be afraid of the spider, but would anyone guess that the spider is afraid of the boy???

In this story, each “person” is judging the other based upon what they’ve been told, and when a chance meeting brings them they discover somethings for themselves….

….

And each closed their eyes in fright

thinking that the other might

just do some awful, horrible thing!

But Tyler didn’t squash the Spider.

And the Spider didn’t bite Tyler…

And that’s when the realized,

As they looked at each other in surprise,

That just because someone is different than you,

Doesn’t mean you can’t be friends, too…

As now as they go to bed each night,

Each thinks the other might

Just be their best friend!

And that really is the crux to life. Life is filled of different and amazing people, let’s strive to see past our difference, decide for ourselves what people are really like, and become the friends the world needs.

I have a 10 copies of “Tyler and the Spider” and will happily send them free of charge to anyone who wants one, just pm me your address at m3ml@hotmail.com

Ps.

Everyone is a poet. Just write!

Posted in acceptance, poetry month, Rett Syndrome, Uncategorized | Tagged , , , , , , | 3 Comments

Let’s Break it Down-5 (Neuren Aims, Shoots, Scores! Slam Dunk!)

 

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I chose this picture because of the absurdity. An elephant playing basketball… Margaret Brimble discovering how to repair the brain. Both eemingly impossible, yet…here we are!

Yes, we have finally reached the last part of the Pediatric Trial Results. Hooray. It was quite a challenge for me and hopefully I made it understandable for everyone. I want to thank those people who explained things to me until I grasped the concept/s so that I could explain it in my own words. I want to thank the girls and their parents who were so very brave, forging ahead on to unknown waters.

*disclaimer: these are my opinions only, unless otherwise noted.

 

This last little bit doesn’t need a whole lot of explaining, but I don’t want to stop with the shore insight, so here we go!

Lower dose groups and pharmacokinetics
The two lower dose groups of 50mg/kg BID and 100mg/kg BID did not demonstrate evidence of efficacy.  However, two important observations were confirmed by pharmacokinetic analyses:  The level of efficacy measured by each of the RSBQ, CGI-I and RTT-DSC correlated with exposure to drug (which varies within dose groups).  Lighter subjects experienced lower levels of drug in their blood compared with heavier subjects receiving the same dose.  This was also observed in Neuren’s previous trial in older subjects as well as in the completed Phase 2 trial in Fragile X syndrome.  In this younger population, the effect was that the nearly threefold increase in the highest dose compared with the previous trial resulted in significantly lower actual exposure to drug than expected.   In a pivotal trial, Neuren intends to use dosing that will aim to achieve similar exposure in subjects regardless of their weight.     

And what can we take away from all that? The lower doses (under 200mg/kg) did not demonstrate evidence of efficacy.  In my opinion and from the fact that PRE-trial efficacy measurements had to be met, I find it unlikely that there was NO improvement, just none that reached that PRE-CLINICAL bar. So, even if a change was noticed it couldn’t be counted if 1. it just didn’t reach the bar set and 2. if it was something that wasn’t already pre-determined to be measured. They can’t just go… oh, wow, we see this change! Let’s add it into the protocol. Nope, none of that. And the same thing actually goes for the higher dose group if they saw something that was not already pre-decided as a goal.

Lighter subjects had lower levels of the drug in their blood. This was a trend seen in all three Trofinetide trials; the adult, the Fragile X (on boys), and the pediatric Rett trial. So, Neuren’s going to work on that. No worries there, they’ll get it figured out. Of course, people might be wondering why that’s so, and I don’t know. Perhaps a higher metabolism? Maybe it binds somehow to fat molecules, this is a question for someone with way more education than me! I’ll see if later I can get a suppositional answer, or maybe someone out there knows.

So, we’re pretty sure Trofinetide is working. But what good is something that works if it’s not safe? Well, good news there as well!! Super safe!!

Safety
The primary endpoint of the trial was safety in this younger population.  The safety profile appears benign, with the following key observations:  There were no time-dependent patterns of adverse events (AEs) and no pattern of AEs evident with initiation or cessation of treatment.  The majority of AEs during double-blind treatment period were either mild or moderate in intensity.  The most commonly reported AE across trofinetide treatment groups was diarrhea, which was not dose-limiting.  Four serious adverse events unrelated to treatment were reported in 3 subjects. There was one discontinuation – the caregiver withdrew the subject from the study due to AEs of vomiting and diarrhea.  There was no systematic pattern of objective laboratory, vital sign, fundoscopy/tonsil or ECG abnormalities.

So, basically the worst thing was some diarrhea. It is my opinion that Trofinetide may have corrected the neurogenic bowel seen in Rett syndrome and the body was unprepared for that. (This is absolutely only my opinion-it could as easily been the strawberry flavoring or some other issue. I know Katie didn’t need her laxative at all during the trial she was in, but I do not know if she got the placebo or Trofinetide)  I’m sorry someone had to withdraw because of that. However, as a parent, and while you can’t count it here as an adverse effect, the fact that the girls regressed AGAIN afterwards is a terrible consequence of such a trial and one of the reasons these parents were so incredibly brave.

So, to sum up all of the last five installments:

Trofinetide improved many symptoms significantly at the 200 mg/kg dose vs placebo.

Trofinetide is safe.

There was no “cap” seen; meaning, improvement continued throughout the trial on the 200mg/kg dose.

There was a correlation between how much drug was measured in the blood and improvement; lighter girls did not have as much drug in their blood despite the high dosing level. This was observed in all three Trofinetide trials and Neuren is working on a solution.

The Natural History Study is an important data collection study and has resulted in standards that can be used in clinical trials.

It’s not mentioned here, but subsequent announcements put Phase III starting in 2018.

But, the greatest thing you can take from all of this is that….THERE IS HOPE!

Thank you to Neuren, the researchers and all those who believed before us parents ever got an inkling, you are changing our world.

Posted in cure, hope, margaret brimble, Neuren Pharmaceuticals, Rett Research, Rett Syndrome, Trail to a Texas Trial, Trofinetide, Trofinetide Pediatric trial, Uncategorized | Tagged , , , , , , | 2 Comments