First, Do No What?

>> Sunday, June 28, 2015

I was cc'd on an email thread today and felt the need to respond. Only because I believe the spin on this issue needs to stop, and stop NOW before it gets embarrassing.

The email had this statement highlighted in it:

The families and children coming to Colorado are receiving unregulated, highly variable artisanal preparations of cannabis oil prescribed, in most cases, by physicians with no training in pediatrics, neurology, or epilepsy. As a result, the epilepsy specialists in Colorado have been at the bedside of children having severe dystonic reactions and other movement disorders, developmental regression, intractable vomiting, and worsening seizures that can be so severe they have to put the child into a coma to get the seizures to stop. Because these products are unregulated, it is impossible to know if these dangerous adverse reactions are due to the CBD or because of contaminants found in these artisanal preparations. The Colorado team has also seen families who have gone into significant debt, paying hundreds of dollars a month for oils that do not appear to work for the vast majority. For all these reasons not a single pediatric neurologist in Colorado recommends the use of artisanal cannabis preparations. Possibly of most concern is that some families are now opting out of proven treatments, such as surgery or the ketogenic diet, or newer antiseizure medications because they have put all their hope in CBD oils.

Hmmm..... only a couple of things about this that are complete crap, the rest is just fluffy BS. I edited myself, add the colorful vernacular yourself.

So let me rewrite the headline from:

American Epilepsy Society President Says Side Effects of Artisanal CBD Oils Can Be So Severe No Pediatric Neurologist in Colorado Will Recommend Them 
In a desperate attempt to stay relevant, President of Epilepsy Specialists Group criticizes patient reports and alludes to parent nullification, forcing parents to decide between Doctors and their need for better treatment options.
Parents want to try this, they already know that the mainstream medications are causing as many, if not more of the side effects they say they are seeing now. Bug had to be put in a near-coma three times to stop his seizures. And he wasn't on cannabis. OH MY HOLY HELL...what does THAT mean? What caused that?  Refractory epilepsy. Duh.

The idea that Doctors sit by their patients bed while they are in status...that made me laugh out loud, especially when they are puking, just ha! I love Bug's Doctors but none of the them held his hand while his heartrate was in the 30's. Glenn laid on the couch in his room, checking on him every few minutes and I sat, arm on the bed, hand in hand with my boy while I thought he was going to die. If there was a Doctor sitting beside him, I would know. And if she thinks we will believe the nobel, caring Doctor line, well...that's just cute. Paints a good picture though. Nice try.

I am rendered speechless at the thought that because a medication is FDA approved that means it's perfect and safe and a better choice than mother nature's kitchen. I can show page after page after page of both dangerous side effects and death's created by medications. Medications designed to help, that ended up causing dire results. Some, the luck of the draw because individuals are different and respond in different ways and others, tainted during the manufacturing process. Old, tired argument, get a new one so I don't have to scare people and YOU don't create more fear about cannabis AND FDA approved medications. Take another tactic, this one is a yawner and shows how out of touch you really are.

What I want to see are the numbers. The really real numbers. I want to hear from ALL of the Doctors that refuse to treat patients on cannabis. I want to hear them say why and then I want to ask them if they say this out of fear from federal repercussions, or from investments made by pharmaceutical companies. I want to know how many of these children with the reactions were patients BEFORE they saw them in hospital in status. Because if this is a new patient, there is NO way to know if the cannabis was the catalyst or not. What is being quoted here is...wait for it...anecdotal. Why is that, you may ask, she's a Doctor, doesn't that mean there is a scientific basis for it? Nope, not at all and here's why:  because it was NOT in a controlled environment. See how that works?

If you can not control all of the variables, then you are left with opinion, not science.  Or you have to admit that what you have is as good as what parents are giving you.

And I want to hear from their patients. I want to hear how they feel about their Doctors refusal to treat and if it is stopping them from trying the artisan oils. The parents I know, when faced with a Doctor that says no, find another. THEY FIRE THEIR DOCTOR.

In one such case, the parents were told by their then-current Pediatric Neurologist their paperwork was lost, then they sent the paperwork in, then they had no idea if the nurse sent it in. So, after months of cat and mouse, the parents took their daughter to a new Pediatric Neurologist who agreed that their child was severe enough to try the oil and signed the recommendation. 

From the first dose, the child has been seizure free.

Months later, their child finally got access, their child is more active, has not been in status ONCE, which is better than once a month (documented), is learning to speak with technical assistance and even making some noises. Is laughing.

When I met this child and the parents years ago, there was little movement, little eye contact, almost no smiles. When smiles happened, pictures happened. Once or twice every few months.  Last week, Mom posted a video of the child giggling. Something I had never heard.

So, Doctor, who is doing no harm (remember that part of the oath you took) I DARE you to call Mom and tell her she can't have the CBD Oil. I DARE YOU. Let's book the Oprah Show and get the two of you on it. Doctor, who is trying to kill all hope for all families because she is overwhelmed by the response and can't keep up (OR owes someone something for being vocal about the evil and dirty CBD) versus Mom who met her child for the first time. OR better yet, Doctor naysayer versus a smiling child.

If you are so concerned about the quality and the dosing, become a part of setting the guidelines for it.  Lend your voice to getting it FDA approved, or at least TESTED, and then help establish the dosing protocol. Because, good Doctor, you are behind the curve, you will not get in front of this steam roller, you will not persuade desperate parents watching their children suffer to NOT try CBD with or without THC, you will NOT, they have given you your chance and feel hopeless. And now, they feel betrayed.

If you were Bug's Doctor, you wouldn't be for long. He is your patient, and if you are not committed to trying to help him, then I will find someone who will. I will find someone as dedicated to helping him as we are.

If any of you that read this have a story to tell about your Doctor in Colorado denying access to, or help in getting, CBD as a treatment, please, feel free to share this post and tell your story, or post it in the comments. I would LOVE to hear this. Good or bad, I can take it, and the world needs to hear it. No, your DOCTORS need to hear it.


Number 61: The Conversation

>> Monday, June 22, 2015

We had expected the call to come the next week (this week) and were quite surprised to be at lunch on Friday, June 19th, 2015 when the good Dr. called to tell us he had received the confirmation earlier than he thought.

He explained that they sent away for the assay from California and when they received it, it didn't work. So, they made their own. One point for the Dr. and I told him so. Glenn never makes assay's for me. 

So they made the assay, and they ran it. A few times. They wanted to be absolutely sure before he called us. We were in a restaurant and I told him I would call him back. An hour and a half later, right before meeting with some wonderful folks in Ogden about helping with the Epilepsy Association of Utah, Northern Region, I called and left a message. As we were finishing the meeting and laughing, he called back. I ran to get Glenn and we headed out to the car. 

We listened as he detailed what had occurred to get us to this point. He told us that Bug was unique in the entire world. 

Well, we know that, but he told us why.

Bug has an insertion in the location that they have NEVER seen before, all of his KBG symptoms will be different, even though KBG symptoms run the gambit anyway. HIS will be all his own. And from our research, we have verified this to be a factual statement. So far, his seizures are the absolute worst part of his presentation. Whereas, seizures are not the most common in KBG patients. The short stature and bone growth issues seem to be the most common. Bug is short, but we are more concerned with the seizures and developmental delays. 

KBG was first identified in three families using research based on the work of Dr. Opitz and others, who is now at the University of Utah: 

"Herrmann, J., Pallister, P. D., Tiddy, W., Opitz, J. M. The KBG syndrome--a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig. Art. Ser. XI(5): 7-18, 1975."

Dr. Opitz has been quoted as having a preference for naming findings based on the families affected by using the family's initials.  I've yet to find out the surnames, but I haven't been looking at the naming convention so much as the treatment and prognosis. And the treatment is not uniform. It's as symptoms present, and apparently, those change with time as well. We are left with looking at gene therapy to truly help him and we may have that option. But I get ahead of myself, we haven't even spoken with the Dr face to face or anyone that might be able to guide the treatment plan.

The most common symptoms:

  • physical abnormalities of the head and face (craniofacial dysmorphism)
  • Fibrous joints (coronal sutures) between certain cranial bones of the skull may close prematurely; as a result, the head may appear unusually broad, short, and/or rounded
Characteristic facial features may include:
  • eyes that appear widely spaced (telecanthus) or crossed (strabismus)
  • wide, bushy eyebrows
  • and/or thin, bow-shaped lips
Characteristic features may also include:
  • abnormally large teeth in comparison to the jaws (macrodontia)
  • jagged, crowded, or misaligned teeth
  • and/or unusually short, flattened, supporting bones or sockets of the jaw (mandible) that house the teeth (alveolar ridges)
  • short stature
  • speech and hearing impairments
  • and/or have mild to severe levels of mental retardation
In some cases, mental retardation may be attributed to a small head in relation to the rest of the body (microcephaly)
  • abnormal bone development (skeletal dysplasia) such as malformations of the bones of the spine (vertebrae)
  • shortened middle portion of the thigh bones (femoral neck)
  • abnormally developed hip bones (hip dysplasia)
  • and/or shortened, hollow finger bones (metacarpals)
Features may include
  • a sunken, pushed-in appearance of the chest (pectus excavatum or “funnel chest”)
  • webbing or fusion of the middle toes (syndactyly)
  • a single deep crease across the palms of the hands (simian crease)
  • and/or six fingers or toes on one limb (hexadactyly)
The number and severity of these symptoms vary widely among affected individuals.

We spent 40 minutes on the phone, listening, asking questions, trying to take in EVERY little detail. When we hung up, we agreed to meet in person this week and talk details. The good Dr will try to answer our questions and we will talk about where we go from here. The one thing that really stood out was there is no support group or foundation for this syndrome. I looked at Glenn and he said: yep, I know. You'll make one.

We have started building the KBG Foundation, I mentioned this is his diagnosis post but we have progressed a little further. The Foundation will be an affiliate of the Epilepsy Association of Utah until the NPO paperwork can be filed. I will be too busy to file the paperwork immediately so having the little extra time will be helpful.

In the last 3 days, TWO families have been identified and I have spoken with one of them and sent an email to another. We know there are a few families in Turkey that I have yet to be in contact with, but I need to find someone to translate...any takers?


The First Post - Meet Glenn's Diagnosis

>> Saturday, June 20, 2015

Let's cut to the chase shall we?

Glenn is unique. Uniquely unique as it turns out.

He has been diagnosed with KBG Syndrome. That, in itself, is rare (About 60 documented cases worldwide) but the really unique part of Glenn's diagnosis is that he has an insertion in the chromosome that is related to KBG Syndrome whereas most patients have a deletion or duplication.

Glenn is the ONLY documented case of an insertion in the world. The ENTIRE world. Animal or human. At this moment he is 1 in 7 Billion. We are confident there are more, but where? And who?

Important to note: Bug has two copies of this gene, one good and one bad, just like everybody. BUT his bad boy is more dominant, it took over the house.

The details for those of you playing along at home:

In the ANKRD11 gene we have 20 exons. One right after another, lined up lovely (in Bug it's lovely until we hit exon 10). But hooray! That's what we should have, sorta. Those exons work together to produce a sexy protein; ankyrin repeat domain 11 (ANKRD11).  In Bug, we have 9 lovely exons and then...we stop building lovely things when the ugly stepsister shows up: Exon 10 (The Insertion Mutation). After that we have, maybe, 10 exons with 'good personalities' (read: might be lovely but they are not being used). At line 10 of that code, we have an anomaly. Half of that gene is wonky which means that the ANKRD11 protein rides the short bus (they are LITERALLY too short in length) with Bug. Seems simple doesn't it?

Well, it is simple really, almost beautiful in its abilities to function mostly perfectly but it's also very problematic. This is the foundation for a lot of things. Face shape, teeth size, intellectually ability, hearing, sight, organs...hands...they all can be affected. And the treatment, you may wonder? Treat the symptoms.

Chances are almost non-existent that his condition will be replicated in our family. There is no familial inheritance in play. That's a relief.

There is no magic bullet. And there is no large population affected, there is no Foundation, there is no unified support group.

What there Bug.

So I put this out into the world, looking for more KBG Syndrome families or people that MAY have heard this as a possible diagnosis. Let's compare notes, let's talk about what we know, what we don't know and let's kick this to the curb.

Please share this post.

Invite people you know that have KBG or another ANKRD11 diagnosis to join the new FB page, KBG Foundation, and share their stories while I build the KBG Foundation (Yes, we are forming a Foundation to try to help our boy and the possibly countless others like him).

The more we know, the closer the cure.


For reals....

>> Wednesday, June 17, 2015

Another week.

I can not make this up even if I wanted to.

We know that Bug has a pretty big genetic boo boo, we need confirmation and, there has been a delay.

If you have been reading this Blog for a few years off and on, you KNOW this happens to us ALL THE TIME. ALL. THE. TIME.

Just when we think we are there, we have some answers, there comes a delay. It's as if the Universe does not want us to know. As if we have to earn it, it's too special.

This entire week has left me at a loss, mired in the knowledge of the lack of understanding. The completion of 8 years of looking. I sound greedy, and yes, I am. His diagnosis is sitting on a computer hard drive having algorithms run against it. Oh, the irony. All these years and it's technology that brings us the farthest, technology that Glenn and I could probably recreate!

I was thinking today, not that I do that much, but I thought: Bug has trisomy traits. But does not have a Trisomy mutation. He has A LOT of Trisomy markers. But he is a Genetically Normal Male. Oh yeah? Wanna bet? So if he has these traits but does not actually have the mutation maybe the mutation he has is a primordial version of it. Maybe he holds an answer.

I also wondered about the Stem Cells.

When Bug's little brother was born two years ago, we elected to bank his cord blood. We were called by the President of the Company that is holding the goods for us and he said: Normally we get about 100,000 to 300,000 but from yours we got over 1,000,000. So these stem cells...can they be used to help Bug? It's something I am looking into. The possibilities...if we can ever get the results...are that which dreams are made of.

Could we cure Bug?



>> Friday, June 12, 2015

The long wait is taking its sweet time. I have been staying busy and active and trying to not focus on what lays ahead, but as soon as I am not neck deep in a project, I look at things and relate them to the possible genetic outcome.

For instance:

I had to go to the Pharmacy and pick up his refills, not a big deal, takes a few minutes, costs a few bucks, but when one refill is expired and not ready and you have to go out to the car to get it AND then you end up waiting, what happens is a little off the hook.

Ava said:

Can I have a drink? Yep, and she chose it. It was sugar.

Ava said:

Can I have some candy? Yep, and she chose it. It was sour and sugar.

Then she saw the ring pop and we bought that. I answered a few questions and was incredulous when I was told that the Diastat needed a pre-authorization. What, I said, What? It was the Pharmacy's error, it turns out, but straightening that error made me sit longer. And looked around. I stared at the wall of supplements ahead of me and thought: what if what he needs has been in front of me for 5 years and I have been an arms length away from it this entire time?

One can not live like this so I moved into a different place mentally and focused on Ava and the fact that she was neither eating her sugar or drinking it.

When we got home, I watched Bug. I watched him play and smile at me. I watched him trade toys with his little brother. My mind was locked in the potential of what next week may bring.

More of the same? Less time?

I asked Glenn if he thought about it and he said:

No. It won't change the outcome. It is what it is and nothing I can think, at this moment, will make a difference.

Yes, I agreed, point taken.

Yet, here I sit. Guess what's on my mind?


Longest. Week. Ever.

>> Tuesday, June 9, 2015

We received a phone call today, then an email, then a call to the EAU office. I had been busy getting stuff ready for membership meeting and got to returning the call later than I had intended.

Although we know there is something genetically amiss with the Bugster, the thought of there actually being something found is foreign.

Until today.

That call led to this:

We need to verify the findings before we tell you what we are looking at.

Well, OK, let's do that. Wait...wait...what? Really? We WERE right?

Yes. A lot. We were right in a big way it seems.

There are areas of our genetic code where we KNOW everything should be aligned and doing well and plodding along in synchronicity. 5 of the 6 in our family are synchronized. Bug is not. It's a new genetic variant for us. Something very rare but has been seen before. And for now, that is where we sit.

I am not kidding.

For another week until the results can be confirmed. A week of me putting it out of my mind, and yet slapping me back into it when I look at him. A million questions repressed. Every part of my brain is swimming with the possibilities and it will swim for another week.

How can I focus? How can I NOT obsess over trying to guess what it means and what IT is before he tells us? I can do it because there a million OTHER things to focus on. Things I have been focusing on before much else, before him sometimes. Things that I think are important and it turns out, are only important for a short while until people forget what it took to get to this point.

Now, we have a diagnosis, a really real probability of knowing what is going on with Bug, of knowing WE are not carriers, we did NOT pass this on, he just IS.

So for the next week, forgive me if I don't put everyone else first. And forgive me in advance if I just don't see your priority as my priority. Give me this week. Let me be. Let us be...just us. For another week. Then it may be us and this diagnosis. A flurry of activity surrounding it, emotions, dedications, acceptance, grief, all the things that come with a diagnosis. Most importantly, a new direction.


Test results and a rant.

>> Monday, June 1, 2015

Vitamin D.

Turns out that vitamin D and Bug are not playing on the same team. He is deficient. Not a shock, really, a fair amount of people taking AED's need to check their Vitamin D levels. Combo of reasons, I imagine, I didn't look into the 'why', I just took this one at face value. Usually, I learn all I can and ask around and delve into how our body creates, uses and releases Vitamin D. But really, do I NEED to know?

It doesn't seem to make much difference what the answers are, and if the why's are brought to light. We don't DO anything with the extra information.

He is doing so much better since taking the extra Vitamin D. He had a bad round of one day of 5 seizures when he was getting sick, but aside from that: one seizure a day. Maximum of two. His energy is up, he is more attentive, more persistent and just...better. Thank you Vitamin D.

I have stopped looking for answers to everything. I am tired of talking and talking and getting....nothing. Of getting put off. I went so far as to lay my reputation and time and money on the line and aside from thank you's, we are no closer to being able to solve the why. I admit it, I am jealous of those parents that have answers after writing some letters and visiting a couple of Doctors, I am. What makes Bug's story not worth a happy ending? What have *I* done differently than those other parents? Because, if we are honest, there are very few Doctors that have made finding out what is not working inside of him a priority. Mostly they are reacting to my questions. And while I am good at asking the right questions, I am getting tired. Tired of the answers either being not noteworthy or a shrug of the shoulders and: I don't know what to do with this. And back to the research I go. BUT...At THIS moment, I am really tired.

Don't say burned out. I will cut you. I am not burned out, I am frustrated, feeling like helping Bug will NEVER happen and tired of being wrong for being right.

We have been at this place for 3 years. I have been meeting people, helping people, sharing company information for organizations that may be able to provide an understanding of how his life took this turn. And we get: lost results, our work praised for other people, organizations being valued for the work that *we* have done and people complaining about how we don't do enough for them. How I ruined it.

Here's my response:

Sorry. You can't blame ME for YOUR failure. You will, but I won't take it. I will rise above it and continue on without your blessing. I don't need it. I will continue to help people where I can, looking for something to help my boy in the meantime. I will do those things I KNOW will help the most people and I will not think again on how you think I did something TO you by not lavishing praise on your efforts that are ONLY self-serving. You go ahead and keep taking credit for our work, you go ahead and pretend to be something wonderful, because the people that KNOW, know you are faking it. There is no sincerity in your words.

So, this summer, while he smiles more, and while he stomps and fights with his little brother over who gets the Batman Car this time, I will keep plodding along looking for what the hell he has going on. Tired as I am, there is no one else that loves this little monster like I do, and I will make sure he has every chance to be heard. Even if I am being dismissed, HE won't be.


What a Seizure looks like (Graphic Content Included)



Free online tools to provide people living with epilepsy and their doctors with a better understanding of the relationship between seizure activity and anti-epileptic medication dosages. Reports generated on include detail graphing capabilities and are easily sharable with caregivers.

Diamond Potential Awareness Award

Diamond Potential Awareness Award
Thank you Holly at Diamond Potential for this award. Awareness leads to understanding and acceptance. And let's face it, we all need to feel accepted for who we are. The battle has just begun!

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