Wednesday, September 29, 2010


The last few weeks have been full. Changing meds, the echo, the eye exam, the genetics appointment, trying to decide when to move, Cristine's graduation and a trip to St G. Wow, it is hot here! I love it.

A little Reader Digest version of a medical update:
We have been decreasing the Keppra. I am not ready to add Depakote yet. Stiripentol may be in our future, but I want to try some other things first.
Cole's eyes are physically healthy. The photosensitivity is completely a neurological issue. The ophthalmologist wants to keep tabs on us though and finds Cole's story intriguing.
The echo did not show a hole in his heart. However, my huge hole did not open up until I put pressure on it by bearing down. Cole was sedated, so we will probably re-do this test in a few years. We will be going to the cardiologist and asking for a 24 hr Holter EKG. This to rule out Long QT Syndrome, something that was brought up to us on Cole's very first inpatient trip to Primary...but for me. I do not have Long QT, but it is what led me to find my 5+ PFO.
Still having the new seizures types. It seems that we need to also add patterns to our list. My mom's rug upstairs seems to trigger him now. He had a 7 minute seizure on Sat and I thought it was going to be a foreshadowing of our little trip. Fingers crossed, no major seizures since! Still having these weird jerking spells, probably tonic-clonics that are short. Sad that we can't recognize them unless they are 20 minutes long!
We are becoming more concerned about SUDEP after the conference, and are on the hunt for a pulse oximeter. I used to be one of those people who wished that I could just die in my sleep, peaceful with no struggle. Now that I know it could be the way Cole goes, it freaks me out. I think I want to say good-bye-or maybe have a warning. I'm still coming to terms with the increased SUDEP factor with Dravet. When we were in CT and the speaker asked who in the room slept with their Dravet children, it really helped me to notice that the majority of the people there raised their hand. Great! I'm not the only crazy one. :)
Cole is still not eating great, but I am not as worried about food as I am about fluids.

In the midst of these new seizure presentations, there have been great things happening. I think we were right about the Keppra becoming toxic. Cole's behaviors have been better the last few days after the drop to 4 mL's. Less violent. We installed his new Airwalker swing and it is incredible. He loves it and I don't have to feel like my shoulders are going to pop out when I swing him in a blanket. He went swimming for the first time since his birthday in Jan! This was a huge risk and made me nervous with the combination of temperature changes and chlorine. There were plenty of small seizures, but no big ones, so we just stayed in the pool-hat, glasses and all. We've been twice since! He still has no fear and poor impulse control so we have to hold him the entire time. He just jumped off of the side yesterday when my head was turned. Even though I had my hands around his waist, I wasn't ready for it, so he went completely under. Our little daredevil ;) He has been outside for short periods every day this week and has been okay. He is loving having other people around-Mr. Social since the day he was born. He is having a great time playing with new toys and watching Cars. You know he is having fun when he can go the entire day and only ask about Daddy once or twice. Brian is working it at the conference and people are very impressed. "Let's go out with a bang", I say! He's worked really hard to build this incredible agenda. I'm proud of him. Mr. PIO has to leave us tonight and go back to speak in SLC tomorrow. Then, he will make the drive sometime between Thurs night and Sat morning to bring us back on Sunday. It's hard to be popular! I hit up some awesome sales at the outlets and have Cole partially clothed for fall and winter. How is it that when they say certain things should happen during a treatment, that I still believe them? I really should have learned my lesson by now! Cole is still growing, out and up, on the diet. He is around 3 feet 2 inches and 33.2 pounds at the last visit. He needs 4T tops to cover his new belly, courtesy of heavy cream and oil. He is in 3T pants, because he is his fathers son and his waist is still skinny. Most likely, a belt will be in his future if his daddy is anything of an indication of how things are going to be when it comes to pants :)

Stay tuned for some more great news...

Monday, September 27, 2010


I know most of you have read this. I came across it again the other day and was moved by how perfectly it describes my life. Especially taking into consideration my lifetime fascination with all things Italy.


by Emily Perl Kingsley.
c1987 by Emily Perl Kingsley. All rights reserved

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.
I have met some of the most incredible people here in Holland. I am so grateful that some of them are teaching me to speak Dutch! I know I can not go back to the days of dreaming of Italy, but like the poem says, you never forget. I am learning to take time to notice the tulips-they are, after all, one of my favorite flowers.

Friday, September 24, 2010


Remember this?

Cole has always had a fascination with how things turn on and off. He constantly tells me that something needs batteries if it does not work the way he wants it to. I have often thought that he could replace the Energizer bunny.

The other day I had just gotten out of the shower. Cole burst in (a regular occurrence), looked at me and asked
"Momma, where's you battry's?" while inspecting me for the tell-tale screws and covers that were hiding my source of power. I was a little shocked, and then I started to laugh.

Hey, it shows his little 2 year old mind is working :) If I can talk, sing, move, etc...I must have batteries. Everything else that is cool in his world does! I should take it as a compliment.

Wednesday, September 22, 2010

Missense Mutations

It's funny how you can put things on Facebook, but forget to put them here.
Remember these guys? I can still sing the theme song.For medical record, we got the results of the genetic testing back for Brian and I. It seems that I have the exact SCN1A mutation that Cole does. Unfortunately, we don't get cool special powers to transform into lean, green, fighting machines. Now, what does that mean in real life?

I do not have Dravet Syndrome. It is a spectrum disorder, as is epilepsy; meaning that everyone is affected differently. I could have something called Generalized Epilepsy with Febrile Seizures Plus (GEFS+). Cole still has Dravet. He fits the clinical diagnosis, as well as having the mutation. I do not.

Here is the Readers Digest version of an incredible presentation given by a friend of ours that helped us to understand our lab report more:
Each base pair of a gene is made up of a bunch of codons, each with three letters. For example, GAG. These letters make up a code to send to the body to make amino acids. Each base codon can be seen as a bead in a necklace. If one is out of order, no one will want to buy the necklace. The color and pattern has to be just right, or there is a "mutation". There are different kinds of mutations, ours is called a Missense mutation. The letter G was replaced with an A making the necklace change. Instead of creating Glutamic Acid, it started to make Lysine (AAG). A really short version of a really complicated detail. Our SCN1A necklace is broken. Obviously, it affects us each differently. The wikipedia version is here.

How does this change things? Most kids with Dravet have something called a De Novo (new) mutation. It is not inherited from either parent. This, is not the case with Cole. Having seen how the mutation can work differently in two different people, it is still not the end all be all. Like I mentioned before, Dravet is more of a clinical diagnosis. The mutation just confirms it. It is safe to say that with ME having this mutation, there is a 50% chance that we could have our next child have this mutation-most likely with some type of seizure disorder. The same goes for each pregnancy since I have the mutation and Brian does not. We do know that there are at least 6 families out there that have two children with Dravet Syndrome. Something that we would knowingly not want. So how do we plan for the future?

We could undergo something called Preimplantation Genetic Diagnosis (PGD). We could create an embryo, just like regular Invitro Fertilization (IVF), and test it before implantation to make sure that it has Brian's good SCN1A gene. This is very expensive and time consuming. Plus, you can never be sure that you won't have a child without seizures, as there are other genes involved and many more yet to be discovered. The field of genetics changes everyday, and they still don't know a lot about epilepsy in general. However, PGD is an amazing resource and can help to avoid a host of genetic diseases. All those who do it have had someone in their family affected tragically by some genetic disease or illness and, obviously, do not want the same for their child.

We could try and get an egg donor, and have a child that is biologically Brian's, but not biologically mine. I could still carry the pregnancy, after IVF, but the baby's DNA would not match mine.

We could always adopt. I know there are many mothers out there who feel their adopted children were theirs in the first place, they just came to them in a different way.

This is a lot to think about. We are not jumping on any of these trains anytime soon. As Cole takes the majority of our energy anyway; adding someone else to the mix right now might just be plain craziness :) We're grateful that we have a diagnosis early. A lot of parents had to wait for years, to find a name for what was happening with their child (hello, Kent and Tami!). It is funny to be able to shake my head and say, "THAT'S why I do this!" for certain things. Being freezing cold at all times, having a regular low body temperature (around 96.4 for normal), blue fingernails, cold hands and feet, sensitivity to the sun-not just because I wear contacts! All of things can be related to sodium channels. Crazy, huh? We just thought I was weird! Okay, so I am kind of weird; but it is nice to know that because of some random thing happening with some random gene-I feel or act this certain way. Science is incredible.

We met with the genetics team at Primary yesterday. They confirmed everything and let us ask a lot of questions. The incredible doctors gave us options for our future, but ultimately the decision is ours. If we pursue more genetic tests for Cole, it is going to get expensive and they do not feel that there is something secondary going on besides Dravet Syndrome. At least something worth a whole bunch of money and a whole bunch of blood. It is still an option for the future, especially if we are participating in research, but it is not practical to do tests right now that are not going to change our diagnosis or the way we move forward with treatment.

So, we forge ahead with some new knowledge. I probably have a name for something after 30 years. Cole still has Dravet. We have at least three options for more children in the future. Well, four, if you count the good ol' fashioned way ;) We might not have special skills with nunchucks, but we do have more information.

Monday, September 20, 2010

The Name Game

Cole:"NIK! Nik?"

Niki:"I'm Mommy"

Cole: "NIK?!"

Niki: "My name is Mommy." (pointing to myself)

Cole: "Mommy?"

Niki: "Yes?"

Cole: "Where's Brian?"

Not sure how many times I have had a conversation similar to this one with Cole, but each time I end up exasperated and laughing.

Saturday, September 18, 2010


Cole is a human experiment. I have met other parents that feel the same.

The constant trying to remove or add variables to see what is making the change sometimes makes me feel like I am working with an over-sized lab rat. A cute one.

This week has been a total science project. Cole has been having more seizures than usual. Perhaps even having another kind (wasn't the 5 types that we can actually classify enough)? He has been having this full body jerking for less than a minute, every day. He does not pass out, have the normal post ictal phase, and will stay standing. The majority of the time he snaps right out of it, like an absence.

It is blowing my mind.
There is no rhyme or reason, although they are more prevalent in the morning.

So starts the elimination process. Did he go outside? What are his ketones? Is he hot? Is he cold? Is it a supplement? Is it the weather? Growth spurt? Tired? Not eating enough? Dehydrated? Is it the phase of the moon?!

Also, hello behavioral problems-we're back! I feel like it's been full blown Keppra rage around here. Hitting, biting, screaming, throwing. Yet he is perfectly pleasant whenever someone else outside of the family shows up. My little actor should get an Oscar. He kicked me full-force, square in the throat when I was changing him the other day. Ouch.

We eliminated all of his supplements, (except for Carnitor, which is really a med) and only gave him Keppra. The jerking continues. SO-it's not the Fish oil, Magnesium, Vitamin D, or the Calcium. I can't even get the multi-vitamin, Selenium, Phosphate, Potassium, and Lite salt in him. We did not go outside for two days and it still happened. Not the temp or the sun. Had labs drawn to see if he was deficient on something or dehydrated as he has not been totally compliant lately (read: ever). They all came back totally normal. What the heck is it?

I'm not sure, but it could be that he is just progressing and developing more types of seizures. Joy.

Brian wrote Dr. Kossoff to see if perhaps the change in ratio in the diet that we made two weeks ago could be the trigger. This month alone has been different and Cole has closed his 7 to 10 day window with more of a 5 to 6 day average for major seizures. He had 3 in 2 weeks. One where he turned a nice shade of blue, that pushed us over the edge, finally springing for O2 at home.

Dr Kossoff replied in his lightning quick fashion and mentioned that perhaps the Keppra is being metabolized differently because Cole is on such a high dose. Perhaps the diet is finally working enough that we can back it off a little? It has been that customary 3-4 months of not changing meds. I think that this theory could pull some weight and be the reason for the behavioral issues. However, I don't think that it is causing more seizures. We see our neuro on Tues. I know that he is going to suggest going on an additional med. He did last time. I just am holding on to what parents at the conference told us. "Keep him as long as you can. Don't drug him up until you have to". My baby is social, he is even polite. Answers the door with a big smile on his face and ushers strangers in with a, "Come in! Please come in! How are you? I'm doing good, good". He tells me, "No thanks!" when I try and get him to drink. He is carrying on conversations. He couldn't even talk in January! I am more than a little reluctant to let that go. It's almost like I can justify seizures, as long as he is with it.

His new favorite saying this week is, "Lets take a look". Do you think he sees doctors on a frequent basis? We were at Primary twice this week and both times he proclaimed, "We're home!" when we pulled up. If I ask him to get his shoes, automatically, "Going to see doctor?" follows. He went behind one of my clients today and reached into her pocket, took out her iPhone, and proceeded to take pictures...all without her knowing;) She was very surprised when he held up the screen and proclaimed, "It's Cole!" I don't want this to go away! Even though I understand that it might.

Until we figure it out, Brian and I are scientists. Perhaps even Mad Scientists?! Cole is our experiment and our environment is our laboratory. Maybe I should get a lab coat?

Friday, September 17, 2010

Hard Stick

I counted 7 poke marks on Cole this morning.
There's probably a couple that I can't see.
Apparently they had a hard time starting an IV yesterday; what's new?
My little man is a warrior.

Thursday, September 9, 2010


We have hope that in Cole's lifetime there will be strides for new information relating to sodium-channel related disorders. Even though Dr Dravet is technically retired, she is still fighting for these kids. We were honored to meet her.We met some of the new pioneers for Dravet Syndrome at the conference and have faith that they will be the ones who will be coming up with new ideas that will shape our future. It was incredible to have such wisdom at the IDEA League conference and have a look at the past and future of Dravet Syndrome. There is a long ways to go. Perhaps there will not be a cure in Cole's lifetime. Embracing that we are high maintenance, and that it's of my favorite things from the conference; we can pull together and make a difference. Please take the time every day to Vote For Hope. You can click on this link. The Global Genes Fund would help research for rare diseases, including Dravet Syndrome. You can vote everyday. If we win, it could mean hope for a lot of our friends. Money is hard to come by for something that only affects 1,000 people in the world. Please Vote For Hope.
Photos by Capture Me Candid