Acadia Prepares for the Triple Crown

horseIt’s been a long haul for all of us waiting on this final phase of Trofinetide trials. It’s like waiting through the Triple Crown… First, the Kentucky Derby! Such a big deal, it’s crazy the hoopla that surrounds it. Then, the Preakness! Not really a big deal, kinda on the down low as far as hoopla goes… but IF the winner of the Kentucky Derby wins the Preakness, well then it’s an agonizing wait to see if that horse is going to win the Triple Crown.

And  so, we have Trofinetide. OMG, the adult trial (Kentucky Derby)-so much amazing stuff happened, a winner!- enough of a winner to go on to the Pediatric (Preakness) phase and the waiting and waiting began to see if it would win. It DID! And, now it’s taking for.ever.to.get.to.this.last.phase! (Belmont Stakes).

But, there was a lot to do to make sure our horse, Trofinetide, is a pretty sure bet for us  to put our money on. And now, Acadia has launched its website for the trial, putting us  one step closer to the start of the race.

Any parent/caregiver interested in having their child (between ages 5-20 at baseline testing) be in the Trofinetide trials-

  • Lavender- a 12 week double blind trial; 1/2 gets Trofinetide, 1/2 gets placebo
  • Lilac- a 40 week open label trial of Trofinetide (must have participated and completed the Lavender phase

Trot on over to https://rettsyndromestudies.com/ and email Acadia for more information about the studies and to find out whether your child may qualify.

Here are the 16 sites currently slated to participate:

Aurora, CO
Baltimore, MD
Birmingham, AL
Boston, MA
Chicago, IL
Cincinnati, OH
Cleveland, OH
Greenwood, SC
Houston, TX
La Jolla, CA
Nashville, TN
New York City, NY
Philadelphia, PA
Phoenix, AZ
St. Louis, MO
St. Paul, MN

LET’S GET THIS DONE!!!

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Posted in Acadia, Neuren Pharmaceuticals, Rett Research, Rett Syndrome, Rettland Foundation, rettland.org, rettsyndrome.org, Trail to a Texas Trial, Trofinetide, Trofinetide Pediatric trial, Trofinetide Phase III | Tagged , , , , | 2 Comments

And Another Year Around the Sun

sun-rise-1148031Twenty-six years ago, in about 3 hours from now, I went through what I thought was the worst 30 seconds of my life… I waited for my new baby to breathe. It was an eternity, nearly 30 years in 30 seconds, a blink. And now as I look back, twenty-six years has gone by in that same sort of blink.

Was it the worst thirty seconds of my life seen through a backward lens? No. I’ve had FAR worst thirty seconds since then. There was the time my son almost killed himself when he was about 6 by climbing backward up a rock that had nothing but a 500 foot cliff on the other side and I grabbed his shirt right before he went over. Truth be told, I do think that was the worst moment of my life. But, there have been others. The time my ex-husband backed me up into a wall and punched a picture frame above me so the glass fell on me, that was pretty terrifying; that was followed by many more such moments.

So, I bet you were all thinking that my worst moments have evolved around Rett syndrome. Not so. Some of my toughest, maybe, but not my worst, because you see Katelin could NEVER be my worst moment in anyway.

Twenty-six years gone by in a blink. I had dreams, so many dreams, for her. I could so easily go there again, in a blink. Wedding dresses, grandbabies, scientist or astronomer (she does so love the solar system, Jupiter is her favorite planet, but calls Earth, “home”) and discoveries (she was the smartest baby! At 5 months old, picked up my keys, crawled to the door and tried to unlock it). I could, but I won’t. I won’t because, yes, it’s painful, but there’s also no point because who she IS is just as wonderful and amazing.

And, as we now surpass this one more year around the sun, I’m just as happy today as that first one that she is a “Child of Mine.” We’ve had AMAZING moments. We traveled the United States, climbed mountains, climbed the inside of a cave, saw buffalo and geysers, Mount Rushmore-where, according to her, they have the BEST ice cream, Thomas Jefferson’s original recipe. In our trips around the sun, we’ve been on adventure after adventure, and who’s to say if I would have done all that if I hadn’t wanted to show it to her? I may have settled for a humdrum, “normal” life, full of no expectations, no surprises. Instead, I’ve seen giraffes up close and personal, been to almost every state, seen some great wonders of this generous and wondrous land; I’ve fed lions with a stick, got soaking wet at Niagara Falls, been to the Baseball Hall of Fame. Thanks to this girl of mine, I have lived life fuller than I ever would have.

So, Katie-girl, I am so sorry you have Rett syndrome, but I am so, SO happy you are a “Child of Mine.”

Posted in Child of Mine | 2 Comments

One Moment in Time…

kodi

Copyright to America’s Got Talent

To be honest, I had to wait over a day to try and write this post. And still, I start crying; I ramble; I’ve looked at what I’ve written and while to a special needs’ parent it may look coherent, that would’ve been about it. So, I’m trying again and grammar and coherency be damned.

*I am only writing from my perspective. I am not assuming to know how anyone else feels. 🙂

There is a Whitney Houston song, “One Moment in Time”, written for the 1988 Winter Olympics. Meant to be an inspiring song about the athletes, their years and years of work and sacrifices all for that-

“one moment in time
When I’m more than I thought I could be
When all of my dreams are a heartbeat away
And the answers are all up to me
Give me one moment in time
When I’m racing with destiny
Then in that one moment of time
I will feel
I will feel eternity”

But, as a parent of a special needs parent, it is also my hope for my child, and truth be told, for myself.

For those who watch America’s Got Talent or is one of the millions who have already watched Kodi Lee’s audition, I’m willing to bet, you cried. Like me, like, well, everybody. But, have you asked yourself WHY you cried. Those of you who don’t have a special needs child in their lives… Why did YOU cry? Because, I can’t fathom it. I can only watch that audition from the viewpoint of a parent with a nonverbal child. And my tears are for his mother.

You see, I KNOW what that moment must have felt like, that moment she talks about when she says “he started singing and… I was in tears” And when I watch this video (over and over) I think of all the Rett syndrome moms out there who’ve dreamed of such a moment- a true glimpse of what could be; a real, undeniable glimpse into the world of their child; a moment when you KNOW on some level, an amazing level, that your child is going to be truly seen and heard and accepted. A moment where people will see past his “odd” behavior; a moment where people forget he’s “disabled”, “autisitic”, ” blind”, “not normal”. And Tina Lee, Kodi’s mom, got her moment and my heart just burst for her.

You see, when your perfectly normal child eventually learns to speak it’s exciting, but still expected; when your child is NEVER expected to speak to HEAR them speak becomes a joy on an whole other level.

We dream of “one moment in time” when it all comes together and a miracle happens. And sometimes we get it. Just this one small, tiny and yet immense gift to remember for always… a child who can’t speak while awake, but calls for “mom” in their sleep; a child who has not once fed herself grabs a chip off a stranger’s plate; a child, who for just one single day doesn’t have a seizure or doesn’t scream; a child who is excluded at every turn and then goes to a different school and FINALLY has friends. These are the stuff of our dreams and when a mom gets that moment, when they can stop worrying for just one day, or better yet know that for all the days coming, their child has permanently managed to bridge this vast gap between being on the outskirts always looking over the great divide of “normalcy” you can’t help but cry tears of joy for her and for the hope that brings to  you as another mom, waiting and hoping for the same.

I had such a moment, and I know that other moms have cried for me, because they’ve told me so, and for the same reason- for me and for the hope they were given. With the words “You’re a cute guy,” during the Trofinetide trial, my daughter handed me that moment on a silver platter. I got a glimpse into what was possible- that my daughter would have a chance. A CHANCE. And that is no more, no less, than what we want for all of our children. A CHANCE. The greatest gift. And, it never becomes less of a gift, this moment in time. I could see it on his mom’s face. And you know why? Because the fear of it being taken away must be around every corner. So, you never, ever take it for granted.

So, I do wonder why others have cried. Have they cried because as mothers in their hearts they inherently know what it means to his mother? Were they just brought to tears by the miracle of music and the gift they received because of it? Were they crying because they realized it could’ve been their child and would they have encouraged this connection or believed it wasn’t really possible and so it never was?

But, I don’t wonder why, for me. I know. I cry for his mother and all the mother’s still waiting.

I know dad’s are out there feeling the same, and I hope this moment for you as well.

Posted in America's Got Talent, boys with Rett syndrome, Communication, hope, Kodi Lee, Music, Rett Syndrome, Rett syndrome Awareness, screaming in rett syndrome, seizures in Rett syndrome, Special needs siblings, Trail to a Texas Trial, Trofinetide | Tagged , , , , , , , , , , , | 3 Comments

Rett Syndrome is Such a Trial… #2 Ketamine

purple 2Many parents can attest to the fact that after a procedure requiring anesthesia our children have a decrease in Rett related symptoms. For Katelin, this was a drastic decrease in behavioral issues. My other children would often say… Can we get some of that stuff to bring home?? This anecdotal evidence is so pronounced and consistent across different experiences/procedures etc. that it would be beyond the scope of “coincidence”, imo. Apparently, I’m not the only one who thinks so! So, we know what happens after just one dose, but what happens to symptoms after repeat dosing??

Rett syndrome Research Trust is conducting a trial with ketamine to find out and is the sole funding source. Dr. Jana Von Hehn gives a nice breakdown of the reasons this is a trial worth trying in this article on RSRT’s website.  This trial has some really good things going for it, which is great news for the Rett community.

Safety– Ketamine has been used for decades; it has a good safety profile and after decades of use, parents can be reassured that it’s been tried on all ages, males and females and any variety of patients with pre-existing conditions.

Scope and Convenience– Only 48 participants are needed for this trial. Currently there are five sites recruiting, with another one in the works. This means a large area of the United States is covered and within reach of many families. Also, RSRT and the Rettland Foundation are working together to assist families with the financial impact of participation.

Crossover administration– Even though this is a double-blind trial, it is one in which each participant will be given the placebo during one part of the trial and Ketamine during the other, to compare the findings between the two phases. Both the dose and order in which it is given is randomized and neither the study coordinator nor providers/parents know which is being given at any particular time.

Oral doses- A previous study for the use of Ketamine was discontinued due to a funding withdrawl. That study was IV administration. This trial is being done with oral dosing and may be given through G-tube as well.

Ketamine is already FDA approved– This is a HUGE bonus. If the trial provides positive results, the path to approval for Rett syndrome would be much easier than starting from scratch.

As you can see, this trial has a lot of good points going for it.

For more  inclusion criteria/exclusionary criteria check out-clinicaltrials.gov

A couple things of note are the ages: 6-12 and the girls cannot have had their first menses. Which I found interesting. Reaching out to Dr. Hehn, she responded with the following data:

“Currently FDA’s position is that the neurotoxicity observed in adolescent rats but not in younger animals is sufficient for them to feel cautious about exposing our patients to a semi-chronic dose of a 5-day administration, rather than a 1-time administration as ketamine is intended. The references that FDA cite for their concern are Olney et al, “Pathological changes induced in cerebrocortical neurons by phencyclidine and related drugs”, Science 244, 1360-1362 (1989) and Jevtovic-Todorovic et al, “A comparative evaluation of the neurotoxic properties of ketamine and nitrous oxide”, Brain Res. 895, 264-267 (2001).”

Does this mean if it’s found effective in the age range for the trial that it won’t be made available to older children/adults at some point?- No. The FDA makes it decisions based on verifiable data, which can change over time. So, even if at first it isn’t approved for older children/adults that doesn’t mean the FDA won’t/can’t later approve it when more data about the safety of chronic use in adults becomes available.

One thing I really like is that, in addition to the various questionnaires, participants will be wearing biosensors:

“(from clinicaltrials.gov) 2 different non-invasive, wearable devices will be used in the study to determine changes in physiologic measures for the patient in the home environment. Biosensors will be worn continuously during the screening and treatment period to measure activity, sleep, position, heart rate, and breathing.”

These devices are being used more and more often in studies and I like that physiological data is being recorded and part of studies because it provides concrete non-subjective data. It’s one thing for a parent to say, optimistically…I THINK her breathing is better; it’s a completely different thing for a sensor to SHOW that her breathing is better or even that her breathing ISN’T better. This objective data is irrefutable and a better measure of certain things.

The main thing we, as a community, need to do is GET THIS TRIAL COMPLETED! Last time I checked, there were already 10 children enrolled and another 8 slated, that leaves only 30 left. With an anticipated completion date of by the end of 2019, this trial looks on track, but it does still need 30 children. Take a look at the trial sites and see if any are within reach for you (for those not recruiting yet, you can still call and say you’re interested for when they start up)and remember the Rettland Foundation is there to assist  you in getting there!

United States, Alabama
University of Alabama Birmingham School of Medicine
Not yet recruiting
Birmingham, Alabama, United States, 35294
Contact: Judy Combs 205-996-4935 combsj@uab.edu
Principal Investigator: Alan Percy, MD

 
United States, Colorado
Children’s Hospital Colorado
Recruiting
Aurora, Colorado, United States, 80045
Contact: Trusha Rajgor, PhD 720-777-8499 Trusha.Rajgor@childrenscolorado.org
Principal Investigator: Timothy Benke, MD, PhD

United States, Illinois
Rush University Medical Center
Recruiting
Chicago, Illinois, United States, 60612
Contact: Thao Tran 312-942-2815 Thao_Tran@rush.edu
Principal Investigator: Elizabeth Berry-Kravis, MD, PhD

 
United States, Massachusetts
Boston Children’s Hospital
Recruiting
Boston, Massachusetts, United States, 02115
Contact: Grace Bazin 617-355-1495 Grace.Bazin@childrens.harvard.edu
Principal Investigator: David Lieberman, MD, PhD

 
United States, Pennsylvania
Children’s Hospital of Philadelphia
Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Casey Gorman 267-426-5171 GormanC@email.chop.edu
Principal Investigator: Eric Marsh, MD, PhD

 
United States, Tennessee
Vanderbilt University Medical Center
Recruiting
Nashville, Tennessee, United States, 37203
Contact: Diana Coman; diana.l.coman@vumc.org
Principal Investigator: Jeffrey Neul, MD, PhD

 

 

 

 

Posted in Breathing issues in Rett syndrome, FDA, ketamine, Rett Research, Rett Syndrome, Rettland Foundation, rettland.org, RSRT, Trail to a Texas Trial, Uncategorized | Tagged , , , , , , , , , | 2 Comments

Lavender and Lilac

Allow me to introduce you to the code names of the Trofinetide Phase III! Makes me think of the time I was in the VP’s motorcade and we all had code names, lol.

First up we have Lavender- a 12 week double blind trial of 180 participants. 1/2 receive the placebo; 1/2 receive Trofinetide. This is to be followed up by…

Lilac! One of my favorite flowers ever. Lilac is a 40 week trial of Trofinetide. Everyone who finishes the Lavender phase is eligible to participate in the Lilac phase.

I just want to say whomever came up with these names is BRILLIANT! What a sweet and subtle way to pay homage to our girls and boys.

You can read Acadia’s full statement-here!

Steadily moving forward!!

Posted in Acadia, cure, Neuren Pharmaceuticals, Rett Research, Rett Syndrome, Trail to a Texas Trial, Trofinetide, Trofinetide Phase III | Tagged , , , , , | 1 Comment

Rett Syndrome is Such a Trial… #1 Anavex 2-73

seven…and 2019 looks to change that up a bit- Rett Syndrome, so many trials! According to the most recent GP2C newsletter (GirlPower2Cure)there will be at least 7 trials this year, currently in various stages. This is SO exciting! What does this mean for parents? Well, of the trials already listed on clinicaltrials.gov it means that there are trial sites in 15 different states and two in the UK; this translates to, “there is a trial site near YOU!” and the Rettland Foundation is there to help you make it all possible.

Starting off the pack of currently enrolling trials is Anavex with their compound Anavex 2-73. Anavex 2-73 appears to be a versatile compound and may be effective in a variety of conditions. It also appears to have a good safety profile since it was first trialed back in 2014 and Anavex has multiple trials with it in various stages; the three  disorders currently being addressed are Rett syndrome, Alzheimer’s and Parkinson’s Disease Dementia.

Anavex has a great video that gives an overview of how Anavex 2-73 works and the end goals they hope to achieve with their compound in Rett syndrome. One of the main “targets” is neuronal growth, which is critical for our children because the nerve cells in the Rett brain have dendrites (fingerlike projections) that are a combination of too few and too small. If you think of the brain as a network of telephone wires, basically the wires have been cut and the brain can’t talk to the body like it needs to; it’s firing off all the right messages but they are getting lost in the gigantic space between telephone poles.

How are they to do this? They hope to provide the brain with homeostasis- “the tendency toward a relatively stable equilibrium between interdependent elements, especially as maintained by physiological processes.” I heard Dr. Kaminsky speak about it once. He said, and I paraphrase here, “Rett syndrome stresses out the brain and so it doesn’t function properly; Anavex 2-73 makes the brain happy and in that environment things tend to work better.” While certainly an over simplification of the process at hand, it does provide insight into the ultimate goal- a happy brain functions better.

I had to dig around a bit to get information about the potential in Rett syndrome based on findings in other trials. One very promising thing I found is it’s potential in controlling seizures. You can also read about it from their presentation at the 2016 Rett Syndrome Symposium. Just a couple of weeks ago, Anavex presented at the American Society for Experimental Neurotherapeutics (who knew that was a thing??) Dr. Kaufmann presented:

Longitudinal 148-Week Extension Study Of Anavex®2-73 For The Treatment Of Alzheimer’s Disease Demonstrates Maintained Activities Of Daily Living Score (ADCS-ADL) And Reduced Cognitive Decline (MMSE) For Patient Cohort On Higher Drug Concentration And Confirms Role Of Precision Medicine Patient Selection Biomarkers 

(For those of you who have not heard of Dr. Kaufmann, he is a juggernaut in the field of Rett syndrome research and one of the best doctors Katelin has ever had. He understands the need for wrap around services and a team approach to the challenges our children face. In his extensive career he has participated, in one facet or another, in almost every single Rett syndrome trial. Knowing that he is on Anavex’s team instills great confidence in me that we can place our children in their hands.)

The thing that jumps out at me is “reduced cognitive decline.” Whether this was achieved via a mechanism that would be helpful in Rett syndrome, I don’t know, however, I find it to be an optimistic observation. What else does Anavex 2-73 have going for it? It’s been given Orphan Drug Designation by the FDA; it is an oral medication; has demonstrated “favorable  safety  and  bioavailability” in the Alzheimer’s trial.

By this time, you’re probably thinking…Cut to the chase, already!

This trial is for adults, 18 and over. You can review all the criteria, goals etc. on Clinicaltrials.gov. The sites are:

United States, Alabama (recruiting)
UAB | The University of Alabama at Birmingham
Recruiting
Birmingham, Alabama, United States, 35294
Principal Investigator: Alan Percy, MD

 
United States, Illinois (not recruiting yet)
Rush University Medical Center
Not yet recruiting
Chicago, Illinois, United States, 60612
Principal Investigator: Peter Heydemann, MD

 
United States, Ohio (recruiting)
Cincinnati Children’s Hospital Medical Center
Recruiting
Cincinnati, Ohio, United States, 45229
Principal Investigator: Shannon Standridge, DO, MPH

For more information and to register interest in the trial you can go to: rettsyndrometrial.com

For possible assistance with trial expenses contact: Colleen English, Rettland Foundation

They only need a total of 15 participants for this trial, which is 7 weeks long. They’re giving themselves until DECEMBER! We can do better than that. Let’s get this done!

Posted in Anavex, Anavex 2-73, cure, Dr. Walter Kaufmann, FDA, gp2c, hope, Orpan Drug Status, Rett Research, Rett Syndrome, Rett syndrome conference 2016, Rettland Foundation, rettland.org, rettsyndrome.org, Trail to a Texas Trial, Uncategorized | Tagged , , , , , , , , , , | 3 Comments

Poetry is my Pocket Watch

frozen-in-time-1454764

April is Poetry Month. As I have traveled this journey with Katelin, one of the few ways left to be ME was to write, and so I wrote. There were times I wrote on my  lunch break that turned into two hours and thank goodness they never fired me, because when I write I HAVE to write until it’s done.

Very few people who read this blog have a clue that I am a published children’s author and a poet. Being Katie’s mom or any mom can be what you become “known” as. Literally, people often just call me “mom”. I think it’s because they have so many patients that they can’t possibly learn all the parents’ names, so we just become “mom” and/or “dad”. There IS more to us, dreams we left behind or have tucked away in a pocket like a pocket watch- a dream attached to a chain that just seems to show us time is passing by. But, sometimes over the years, I’ve taken it out and held the watch in my hand and felt the curve of it, the weight of it, the beauty of it and admired it for all that it has meant. In those moments, it reminds me that I keep it attached to a chain so it won’t break off and leave me.

I’ve had the great honor to be asked to write poems for the moments in life that other people cherish and to do this I’ve been trusted with memories and emotions that are often overwhelmingly beautiful and heartbreaking. But, if someone were to ask me what is the achievement that is my greatest personal honor, I would have say without hesitation, being asked to write a poem for the Hyannis JFK Museum.  For all my life, I will never forget being given the opportunity to put into words the feelings of a Nation, even after all these years.

I thought I might share a few poems with you all, written words that are from the heart of M. Lancaster and not “Katie’s mom.” (Though I do love that name just as much)

A Silver Day

I have seen a silver day
stretched out across the land
and mist that seeks the mountain
like the water seeks the sand;
I have seen a golden sunset
blaze across the sky
and felt the wind against my skin
so sweetly, like a sigh.
Life’s challenges have their place-
like the wind and rain-
yet, offers plenty of beauty
to balance out the pain.
And, all the riches you may find
made by the mind of Man
will never equal in worth
what I can touch with my own hand,
nor what my eyes can see,
nor what I can reach with my soul-
for I have been blessed by silver days
and sunsets made of gold.

M. Lancaster

A Sentimental Journey

A sentimental journey
can be done by thought or step,
down a path of hopes and dreams
or one laden with regret.
There are the roads untaken,
the ones that might have been,
had we but spoken one kind word
or let one in anger go unsaid,
ones where you lose your way
along a path shadowed with “what if”
and countless lost chances
at a word, a touch, a kiss.
And then there are those journeys
that bring peace to a grieving soul
and to a heart too far away
when someone traveled on alone;
and the ones where love still echoes
and trust was not betrayed,
when your friend walked beside you
and purpose never strayed.
Who we are and who we’ll be
is built into these paths,
and sometimes to move forward
we have to journey back.

M. Lancaster

When Death Takes me From this Fair Earth

When Death takes me from this fair earth,
and gathered ’round my grave they stand to grieve
to speak of how I lived and my life’s worth
and of what gave beauty and joy to me,
would they know, then that day, to speak of you
and how we passed the golden days of Time
among orchids bright, sweet and kissed with dew,
heart to heart, days, like us, combined, entwined
’til no beginning, no end be discerned?
With more ease could one say, “Here is Heaven,
Here is sky and from the other here they turn,”
than discover the boundary that made us twain.
Or, would they mourn, “to love she never dared?”
Ah, such would be the waste of unearned tears.

M. Lancaster

Ode to 9/11

Lady Liberty stands in a harbor
Her light held high for the world to see
Standing watch o’er her country,
Its life and its dreams
While the blood of innocents
Flows to the sea.

Still she beckons,
Steadfast and sure
Send me your tired,
Your hungry and poor,
Those yearning for Freedom
Come, come to my shores.

Lincoln hears the drums of war,
And weeping for his fellow man,
Keeps watch o’er his Nation,
United hand-in-hand,
While the blood of innocents
Flows ‘cross the land.

And his words of Gettysburg
Echo from that day
“That these dead shall
Not have died in vain.”
And “this government shall not perish”
Though it suffer heartache and pain.

The bell that rang in Freedom’s dawn
Tolls from sea to shining sea
Three thousand times and more,
Proclaiming the heroes’ deed
While the blood of innocents
Blends with the trees.

Yet for all the struggles our Nation survives,
Still we join our voices and sing
For this great land of Liberty
And all the honor that she brings.
So, from every mountain, bell and heart-
Let Freedom, sweet Freedom ring.

M.Lancaster

 

Posted in national poetry month, Poetry, poetry month, Uncategorized | Tagged , , | Leave a comment