Taking a Break

taking-a-break-1373894

I would not normally post anything political on this blog, however I am taking a break from this blog for a bit. The current political crisis in my country is demanding my attention. In many ways, Katie’s journey will be affected by our current administration and the overwhelming plummeting that our country is taking on a daily basis is proving too much to even think about anything else at this time.

For those of you at Neuren and others who have a vested interest in my girl, please keep her in your thoughts as next month she will undergo spinal fusion. She has a fairly high chance at some complications given the degree of her kyphosis and BMI; however her lungs are beginning to collapse and this was my red line. I will let you all know how she does come August.

I’d like you all to know that I have read the updated timeline and, while of course I wish it would move along just a bit faster, we are patiently waiting without one ounce of doubt that when Trofinetide Phase III gets here it will be a homerun. Until August then, have a great summer in the Northern Hemisphere and may the winter not be too harsh for the Southern. 😉

 

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Posted in baseball, bone deformity in Rett syndrome, kyphosis, Neuren Pharmaceuticals, Rett Syndrome, Rett syndrome Awareness, Trail to a Texas Trial, Trofinetide, Trofinetide Phase III | Tagged , , , | 2 Comments

Right to Try-Walking the Tightrope

tightrope-walker-1314832Yesterday, the president, signed the Right to Try Bill into law. But, what does that really mean for the majority of patients suffering from TERMINAL illness?

I’ll try to break it down as best as possible from what I know and understand. These are MY opinions only, for your own certainty, I suggest reading articles that contain pros and cons.

The FDA already has a “Compassionate Use” program. They approve approximately 99% of requests. The new bill implies that the hold up is the fault of the FDA, this is incorrect; per the article noted below, the time from a complete application to approval is about 4 days, in some instance verbal approval is given immediately over the phone. The ACTUAL culprit is the drug companies themselves. Here is the link to the FDA requirements-here

How does the Right to Try law differ-

First of all it bypasses the FDA and by association the FDA safety guidelines. It allows for drugs which have only passed a Phase I trial to be given out to patients. A Phase I trial is very small, it’s basically a “it doesn’t kill you outright” kind of phase. There is no data on efficacy, no data on possible side effects, no concrete optimal dosage. The FDA will not oversee the Right to Try “program”.

How are they similar-

Both have some safe guards for patients, but the Right to Try law sets a much lower bar.

In my opinion-what are some of the pros to The Right to Try Law

  1. Definitely if a person is near death and qualifies, this could be their only option, a hail Mary if  you will.
  2. There is the chance that an experimental drug that hasn’t made it through trials yet miraculously cures a patient.
  3. It gives people who can afford it a chance.

In my opinion- what are some of the cons to The Right to Try Law

  1. It sets the lowest bar for safety, only a Phase I trial.
  2. There is no regulation by the FDA, that means a drug company does not have to file side effects/death etc. statistics except for once a year.
  3. Very few drugs make it through the Phase II trials because efficacy is either not proven or the side effects are severe. Therefore, ineffective drugs can be given to patients or worse, drug companies will knowingly provide drugs that have not had safety proven and reap the rewards of a dying person’s hope.
  4. Just because a patient has a right to request the experimental drug, the drug company is under no obligation to actually provide the medication AND insurance companies are under no obligation to cover an experimental medication, which means there is almost a 100% chance that the patient would need to cover the costs, which could mount into the hundreds of thousands of dollars, and get no actual benefit.
  5. I can easily see a scenario, where a company decides to forgo costly trials and just make the medicine available to those who can afford it, saving millions in trial costs, but creating a severe loss to the population that cannot afford an experimental drug, one that might have eventually made it to market and been covered by insurance.

What are some of the reasons a drug company would say no?

  1. A  drug company would most likely say no if there is an ongoing trial due to insufficient supply of a drug for the trial if it is given to patients not enrolled. Also, a patient who has reached the point where there are no other options and is given the medication may die while taking the medication. This would probably be a natural course and in no way connected to the drug, but this would look VERY bad to investors and make them leery to continue investing in a trial.
  2. Even if a drug company has completed a Phase II, there is still the matter of a Phase III, if the drug is given and again the patient dies, the Phase III may never get completed and a drug that may be perfectly safe won’t get approved by the FDA and insurances will never cover it.

What are some reasons a drug company might say yes?

  1. If a drug has gone through a Phase III and is simply waiting for approval from the FDA, which appears imminent, then yes, I can see a drug company releasing some of the medication to a patient- optimal dosing will have been worked out, in addition there will be documentation of safety and efficacy, so that if the patient does not survive it can reasonably be assured that it was not from the medication. In such a case, I can even see the drug company providing the medication for free for a period of time, while awaiting for FDA approval as it is possible any participant in the Phase III trial would have been offered the same.
  2. A drug company may also say yes if it wants to gather data and bypass the stringent rules of the FDA. It could do a Phase I and then instead of doing all the work to get to a Phase II and possible failure, provide the medication to the sickest of patients and if there is no improvement in any of them, scrap a Phase II and not only save a ton of money, but MAKE money.

Here is an article that really goes into it all in depth.

In my opinion, what does this law mean for our children. Unfortunately, nothing.

In order to get an unapproved medicine, patients will have to have a “life-threatening illness” and they can’t be eligible for clinical trials. They’ll also need to have exhausted all available treatment options.”

Even with this low bar, I don’t believe Rett children/adults will be approved. First, we do not know the criteria for Trofinetide, so it may very well be that they would be eligible for clinical trials. There are other promising treatments in the works (Anavex comes to mind) and until the criteria is set for a trial how can anyone know if they are eligible? I can think of some children and adults for whom this may hold true, that they are not eligible for clinical trials; but, then we are left with these hurdles-

  1. Will the drug company supply the medication and take a chance that the patient survives and actually improves if there is a current trial going on.
  2. If there is not currently a trial, will the drug company take the chance of investors interpreting a death as a failure of the medication and pull out of funding for future trials.
  3. Will the drug company have enough medication TO supply it to a patient not in a trial.
  4. Even if a drug company is reasonable assured of efficacy, has enough medication to provide to a patient, how will a patient afford an experimental drug? Someone suggested crowdfunding, and yes, perhaps in a rare instance this is a viable option, but if a thousand people with an incurable disease all start to fundraise for a medication that they have to take the rest of their lives, we’re talking millions of dollars per patient.

Is there some hope in this law, of course-if a patient can afford it. Do I think that this law should exist? Actually, yes. I think a patient SHOULD have the right to at least try IF they are willing to sign away any right to sue a pharmaceutical company for unseen side effects, since that is not the focus of a Phase I trial. Do I see the real potential for abuses by pharmaceutical companies, yes, I do.

In the end, each parent/patient should do their own research.

 

 

 

Posted in Anavex, cure, FDA, fund-raising for rett syndrome, hope, Rett Research, Right to Try Law, Trofinetide, Trofinetide Phase III, white house | Tagged , , , , | 3 Comments

Pain is in the Eye of the Believer

As I’m writing this Katelin is into her third month with a cavity that needs a root canal. Perhaps, you are saying to yourself, “My God! How could this mother let her child’s teeth go so long without seeing a dentist and now the poor child needs a root canal?!” In the regular world that would be a fair question, but Katelin and I don’t live in the regular world, do we? Nor does any Rett family when it comes to pain.

There are four major aspects of pain that we deal with: pain our children can’t tell us they’re in; pain we know our children are in, but the doctors don’t believe us; pain everyone knows they’re in but can’t find or won’t do anything about; emotional pain. Emotional pain is for                                                                   another day, I’m writing about physical pain, today.

Take the first-pain our children can’t tell us they’re in.

Can anyone tell you have a headache unless you tell them in some way? I mean unless it’s like a migraine? You have got to say the words, or rub you’re temples, or go to the cabinet and grab some Tylenol or Motrin. Or let’s go for something even simpler-an eyelash in your eye or an itch that’s driving you crazy. How about a broken arm, a dislocated hip- bet you can’t imagine living with any of those in silence. But our kids do it every day. Very few have the words to say where it hurts or even that it hurts. How can you decipher that they are rubbing their heads because of headache when they rub their head all the time? For the children who aren’t mobile, can’t speak, throw in a high pain tolerance and that broken arm is going to go unnoticed for at least a little while. (bones become fragile due to seizure meds and non-weightbearing; they can spontaneously break during a seizure or from simple movements) How truly messed up is that?

Next, the pain we know they’re in but no one believes us:

It’s very true that parents and primary caregivers can tell the difference between screams. There’s a scream for hungry, bored, mad, pain. There can also be changes in behaviors- yeah, Katie may scream and there are times she throws food, but when she screams and throws food at the same time that sets off alarms in my head. Why doesn’t she want to eat? Is her reflux acting up, is she constipated? Is it worse? Case in point- when Katie was almost 18 I got a call from the school… Katie has been throwing her food the last few days. Now, to throw food was not entirely unusual, but to consistently throw food was. I took her to the GI and said there is something wrong. After about an hour she was almost ready to just say go up on the reflux meds, but I looked at her and said…there is something wrong. You have to find it. And, she said, “well we checked for gall stones a year ago, but I suppose we can check again, though they don’t usually form that quickly.” Katie and I were lucky. We had a doctor who trusted my opinion, how well I knew my child. She had her gallbladder out the day after turning 18. But, lots of the time, our kids aren’t that lucky. They are turned away by ER docs and others constantly, to only a few days later be admitted for pneumonia, intestinal issues, the flu, truly any number of reasons. If you ever want to see an emotional mess go find a Rett mother trying to convince a stupid doctor that there really is something wrong with their child only to have them turn their backs.

Now, pain everyone knows they’re in but can’t find or won’t do anything about:

The pain we can’t find. That’s a tough one, even for the docs. Our kids get put through test after test, sometimes pretty invasive testing like an endoscopy or an MRI under anesthesia and…nothing. Everyone knows but nothing can be found, all for the sake of silence. And we watch those tears and feel completely lost, helpless, a failure.

But, let me tell you one thing, you will never see a mother/father fight like hell as a Rett parent does when the doctors KNOW what’s wrong and pretty much go…”oh, well”. Think it doesn’t happen, pshaw. The stories I’ve heard would make anyone furious. No “normal” human would be made to suffer through what our kids sometimes go through. I can’t tell the other parents’ stories. But, this brings us full circle to Katie’s cavity needing a root canal.

Two years ago, Katie had a teeny tiny cavity on her front tooth, just a dot. I had just moved to California and started looking for a dentist that could follow her. After nearly a YEAR of being sent to different dentists and turned away because of one reason or another, an office was found 4 hours away that would actually see her. So, I drove those four hours and because they couldn’t x-ray the cavity on the front of her front tooth, they turned her away; the dentist would not say it was a cavity without an x-ray. He wouldn’t even do an actual exam of the tooth. A couple of months went by and I brought her back because it was worse. Same thing. I told the dentist, “I’m not leaving this office until you stick that pointy metal thing in her tooth and tell me it’s NOT a cavity. He acquiesced and yes, I was right. That was almost 6 months ago. Her cavity is still not fixed. Three months ago it abscessed. In the end it took calls and letters to the California Governor’s office, the California Senate and the U.S. Senator for California’s office for a dentist to finally say they would do a root canal. If they can’t, they’re going to pull her tooth. I don’t really need to say it, because I know you are all thinking, “I would NEVER put up with that!” But, then, you wouldn’t have to because you aren’t disabled.

Here’s a little more reality for you-I know it’s JUST a tooth, I’ve had ways to ease her pain. Other parents have watched their children suffer needlessly in much greater ways. Our children and other disabled children and adults are some of the bravest and strongest people you will ever meet. They somehow manage amongst all this unfairness to find reasons to smile, to laugh, to love. They face every single day knowing within themselves that this might be the day they get an eyelash in their eye, or have an itch they’ll never get scratched or it might be the day they break their arm and no one will figure it out for days and yet most days they wake up with smiles for their momma. Most days I wake up and silently beg for Trofinetide to hurry up. My girl is my hero and the bravest person I know. Pain is in the eye of the believer; Beauty is in the eye of the beholder. Behold, beauty-

 

 

 

Posted in bone deformity in Rett syndrome, Communication, Neuren Pharmaceuticals, Pain in Rett syndrome, Rett Syndrome, screaming in rett syndrome, seizures in Rett syndrome, Talking, Trail to a Texas Trial | Tagged , , , , , , , | 4 Comments

Faith in humanity

This gallery contains 4 photos.

Originally posted on blueberriesandgiggles:
This morning Lily, Urzsula (one of her beloved caregivers) and I met our cousins the Darlings at the Children’s Museum. We had a blast, especially at the dance party! Everyone at the museum was super accommodating…

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Concussions are a Big Pain!

tackle-1313972I’m going a little off topic, but this is becoming a pet peeve of mine. I think I’ve done a pretty good job of letting the Rett community know Trofinetide is a real hope- the way it works, why it works, the trial results and how they break down to SHOW it works. Well, for the last year or so, concussions have become a hot topic with Chronic Traumatic Encephalopathy (CTE) in the news and how it’s showing up in the brains of ex-football players.

Every time I read an article about it and it allows you to comment, I do. It usually goes something like… The players should really look into Trofinetide and post a link to the page on Neuren’s site that goes over TBI and Concussion. I’ve written to the NFL via email and Facebook. I’ve been blocked from writing on their Facebook page. I’ve written to the Player’s Union. I’ve even written to individual players mentioned in articles if I can find a Facebook page, Twitter page or email. And, I’ve written to the sports writers who write the articles. I’ve never once received any sort of response, until the other day.

I read an article written by Robert Hohler of the Boston Globe: Billion-dollar NFL concussion settlement ‘on the brink of collapse. So, I wrote to him.

Dear Sir,
I write because I cannot in good conscience be quiet. I have written to the NFL so often they have blocked me from writing on Facebook. But, because I KNOW there is a drug that has a good chance of helping players that have had concussions, I must keep trying. Trofinetide is a drug developed in Australia; it is indicated for TBI and concussion as well as Rett syndrome and Fragile X.

Trofinetide was developed with the aid of the US Army and Walter Reed Hospital. After a 10 year study, while the mortality rate did not improve, those who survived and were given the drug vs placebo did much better. (Study was called Intrepid 2566)
3 things hindered the study-the minuscule dosage, they are using many times the dose now (compare 10mg/kg to 200mg/kg; the drug was diluted by being administered by IV; and many patients were on diuretics and so the drug was flushed through their system. However with ALL that the soldiers who survived are doing better than the control group.

I hate knowing there may be, if not an answer, a treatment that will improve the lives of those suffering due to concussions.

Neuren Pharmaceuticals is the name of the company. Their website has a page devoted to Concussions and TBI.

I hope some day, someone, anyone will look into possibly doing a trial with football players, it could be a game changer.

And, he wrote back. “Thanks very much, Melinda. It looks like it might be promising. Best, Bob”. It’s not much of a response, but it’s A response and maybe just maybe he’ll mention it to someone who will at least take a look.

I also wrote to the law firm representing the most players. I am sick to death of hearing about how any kind of treatment is years and years away, when it’s possible there is already something that might help. I feel so sorry for those players that are suffering, knowing that maybe they shouldn’t have to suffer.

I know concussions are of 0 significance in my life, except the one I got from my brother once, yet knowing my fellow human beings may be suffering and be left to that suffering simply for the lack of knowing that there is already something that might be able to help them is not something I can sit quiet about.

So, if there’s any one reading this who has any connections in the sport world, PLEASE, PLEASE mention it. Read about it. Print it out and put it in front of someone who can be the difference.

 

 

Posted in concussion, Intrepid 2566, Neuren Pharmaceuticals, NFL, TBI, Trail to a Texas Trial | Tagged , , , , , , , , , , | Leave a comment

The Inner Workings of a Star

milkywayI have known Katelin from long before she was born. Through ultrasound, I saw her when she was just a little bean and later, when she looked more like the little girl I would soon hold in my arms, I saw her hiccup, suck her thumb and got to say “oh, I felt that kick, right here!” And then much later, because of Rett syndrome, I would see more.

When she fell out of a swing around 5 and broke her arm I got a copy of her x-ray. I could see, as if her skin and muscle had been zapped away, the obvious, that there was something not right. So much is obvious even to an untrained eye when you strip it down to the very basics. I’ve gotten pretty good at x-rays.

I’ve seen x-rays of her abdomen and chest, all the things you learn about in school with fake skeletons or better yet, those 3-d puzzles of sorts of just the thoracic cavity,  you know like you see in sit-coms that invariably get dropped in the doctor’s office. And, I find it a bit surreal, there in living gray is my child’s intestines, her stomach, her heart. I’ve seen her kidneys, close up, in incredible detail, as I’ve run through the disc of a CT scan. I’ve seen her brain in the same way. Picture by picture I have seen the convoluted miracle that is her mind. Pouring over each image, I have crossed reference any unsymmetrical difference with normal scans until I was assured that it was in the range of normal. If I get really stuck, I call the radiologist and ask him to explain what I see. The response has certainly run the gamut of irritation to impressed, lol. If I want a  compete answer of a troublesome thing I see…I have a source who is as kind as can be, because in real life he could charge me a fortune for the time he’s given to me over the years.

Of course, my inexperienced eye falls short of what the radiologists can see. Even though I know where her arm was broken, I’m hard pressed to see the evidence of it now, whereas a radiologist can spot it right away.

When it comes to EEG’s, I basically go, that looks cool. Yet, someone can take all those jumping colored lines and make sense of them, this amazes me. I can look at an EKG and point out obvious irregularities, but then I see the cardiologist pull out this little measuring tuning fork looking for the disorder known as Prolonged QT syndrome, that often lurks in the hearts of our children. The devil is definitely in the details.

And once I got to compare her pre-born heart beat, which had looked like a twinkling star, to the one that lives within her now. Of all the things I’ve seen within her body, this was the one that made me cry for the sheer miraculousness of it all. Her beating heart, there are no words for how that felt, only tears. I sometimes think on the doctors that do open heart surgery and wonder if, after so many, they lose the sense of what a miracle they are holding in their hands or if they are always just a bit reverential before this incredible natural machine.

Yesterday, as many times before, I poured over pictures of her spine. Sometimes, when I focus on just a single frame, looking, comparing, it becomes a puzzle, one that is possibly complete and right or perhaps a piece is overlapping another and not quite in its spot. Yet, when I look at the whole picture of her back, I can see in acute detail, even with my untrained eye that something is definitely not right. I can see how it affects not only the shape of her, but the way her muscle and fat in her back have layered unevenly. I can see corners that simply look like slopes from the outside. That part makes me feel sad, for want of a better word.

Yet, when I think on the experience of having seen, on a level denied most parents, the inner workings of my child’s body, I am not sad. I’m incredulous. I marvel at the sheer beauty and intricateness of what I’ve seen. My daughter is a sum of all her parts, not just Rett syndrome, and in that, she is a thing of beauty. Imagine this- billions of years ago the Big Bang set forth a ripple effect that billions of years later made the nearly impossible occur- it made my daughter’s life out of star dust. And I sometimes think on her infinitesimally small heartbeat, really that of all my children, and believe that it twinkled like that as a reminder that we are all made of stars. I want her to feel better, but nothing Man can do will make her more than what she already is, a star amongst the cosmos.

Posted in Big Bang, Dr. Robert Chesanow, kyphosis, Radiology in Rett syndrome, Uncategorized | Tagged , , , , , , , , , , | Leave a comment

A Backbone of Steel

For 24 years I have taken care of Katelin. I know every mark on her body. I know when a new freckle pops up. I know why she has scars on the tops of her feet, because in severe anxious states she takes off her shoes and kicks the top of her feet into things. It is my job to know where every little bruise or scratch comes from and to find out if I don’t and do my best to prevent injury. I have been lucky. Her smooth, chubby belly has not been marred from a feeding tube button; she hasn’t needed a tracheostomy; no PICC lines, nothing. So incredibly fortunate.

The one thing hanging over my head has been when, not if, she would need back surgery. Now, in this I’m not alone. It’s a rare child with Rett syndrome that doesn’t need spinal surgery. Some go off with out a hitch, others…well, others have a rough time and still others have a really, really rough time.

So, Katie’s turn has come and soon her beautiful body will have a new scar and her backbone of steel will truly be a backbone of steel. And so I find myself in need of a bit of help. Katie’s service dog, Flynn, needs to be in training school during this time. Unfortunately, I will not have the funds available for his session. Each one is $2000. But, he’s still a puppy and he needs to be better behaved when Katelin comes out of the hospital; he might hurt her inadvertently and be too frisky when I need to be attentive to her.

I have been very blessed to have had so much help along my road and I hate to ask for more, but it’s what Katie needs. If you can donate, thank you. If you can only share, thank you. If you only feel comfortable hoping for the best outcome possible, I thank you. To say that I’m a tad apprehensive of this surgery would be an understatement, but I know that my girl has many, many people in her corner.

Here is the link to Flynn’s GoFundMe campaign: https://funds.gofundme.com/dashboard/Flynnsuperdog/

Any funds raised above what he needs will be donated to Rettland.org, an organization that helps parents with the costs associated with participation in trials.

Thank you all.

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Posted in animals, bone deformity in Rett syndrome, kyphosis, Rett Syndrome, Rett syndrome Awareness, rettland.org, service dog, skeleton, Trail to a Texas Trial, Uncategorized | Tagged , , , , | 1 Comment