Closing the Gap: The First Two Weeks on Carbamazepine

We are now at the end of the second week on Andy’s new medicine, Carbamazepine (Tegratol), and so far, we have had no adverse side effects.  We started him on a small dose of 2.5 ml (50 mg) twice per day for the first week and then increased it up to 5 ml (100 mg) twice per day for the second week.  We will continue to increase up to 10 ml (200 mg) twice per day and then get some blood work done to see how he is doing.

No Adverse Side Effects

Our doctor prepared us for the worst by telling us all of the bad reactions to look for; bad rash, grand mal seizures, and discolored urine, etc. We even received a prescription for ??? to have on hand in case of a seizure lasting longer than 5 minutes. That was the one side effect, out of all of them, that scared me the worst. Just thinking about what I would have to do if that happened, insert a medicine in a place I DO NOT want to see on my 12 year old son, sent me into near panic attacks the days leading up to Day 1.

Not only did I have a prescription in case of emergency, I armed myself with support too. As the kids were off school on that Friday and Monday (Easter Holiday), Dan and I both opted to take a day off work and asked one of our babysitters to come as backup. That Friday, as nervous as I was, we tried to make the day as normal as possible for the kids. We played with the kids, building Lego houses and watching videos. Then because Andy wanted stars, we took a trip to the store. We went to Walmart for his favorite foam stars, then Good Will for some much needed shorts, and an Easter dress for Katie. All the while, I was watching him like a hawk and looking for any sign of a new twitch or an unexpected behavior. Thankfully, it never happened.

Improvements Already?

The rest of the weekend and into the next week, Dan and I watched and waited. We were rewarded, not only with no negative events, but, dare I say, improved behaviors? I know it is way to early to tell, but we almost immediately saw Andy be more calm and less aggressive. He even started talking more and his words were more understandable. At least, that’s what we think we have seen.

The hardest part of hope as a parent, is to have an unbiased opinion. In order to make sure we were getting the most accurate data, Andy underwent some baseline testing on the Thursday morning prior to starting the medicine. We will do some follow up testing in 3-6 months. In addition, only his school director knows he is on the medicine, but we are not telling his teachers yet. That way, we can get some unbiased data from them, similar to a “blind study” in the research arena.

Some of the other areas of improvement I’ve personally seen is cooperation with nighttime routines (taking medicine, brushing teeth, going to bed), cooperation with checking blood sugars, calmer behavior in the afternoons, and even less aggression toward me like pinching and hitting. I did see a little increase in the aggression a couple of days this week, but I was also down with the flu. Sometimes, when mom is down, the kids will try to get away with what they can. But isn’t that just a typical childhood behavior in general? LOL

Affect on Blood Sugar

One side effect we did experience, but were really expecting, was a decrease in blood sugars. The question of, if this medicine is closing the potassium channels in the brain, will it, by default, also close potassium channels in the pancreas, was answered pretty quickly. We checked his blood sugars before every meal, when he got home from school, and any other time he seemed to be acting low just in case. The lowest we have seen so far was a 54. That one happened on the first weekend on Sunday night. We were at the end of a long day, from church in the morning, to lunch and and Easter Egg hunt with the neighbors, to playing outside most of the afternoon. It was after 8:00 when I finally started preparing dinner and Andy started rummaging in the kitchen and trying to grab food from the cabinets, the fridge and even right out from my hands. He kept saying he was hungry and needed to eat dinner. Finally I stopped and realized what must be happening and checked him. He was at 54 so I quickly threw together a sandwich and some grapes so he could eat.

Since then, we have seen a couple of 60’s and 70’s, so we lowered his dose of glyburide by a pill in the morning and in the evening. He has stabilized for now, but we will continue to keep a close eye on that until we are sure he is in a better range. I guess the advantage to him being so stable for the last several years is that he is fully hypo-aware and can tell us he needs to eat when he starts to feel it. That was something we never experienced when he was a baby and on insulin.

Going Forward

We still have two more weeks of increasing and waiting to see if there are any issues. There is still a small possibility that seizures can occur, so we are not out of the woods yet. But with each passing day, I get more convinced this was the right move. We still have a long road ahead of us, but with time, hopefully, Andy can start to learn more skills and have a better future. Isn’t that what any parent wants for their child?

Closing the Gap: Is Gene Therapy Our Future?

There are two thoughts that ran through my mind when our doctor told us that our son had a rare genetic mutation:

  1. Which one of us gave it to him (or was it both of us)? – and
  2. Why can’t they just replace the gene with the correct one?

While the answer to the first question may be easier to answer for certain diseases and disorders such as hemophilia and color blindness, others are not so obvious. Does it even really matter?  Both of our children have it and while that in itself is extremely rare, it doesn’t change how we treat it or how we go forward with our research. The second question, however, it just a little more complicated.

For many people, when they hear the term genetic mutation, a picture of X-men may come to mind.  For others, they may bring up images of two-headed frogs or disfigured children from the Chernobyl accident.  But not all genetic mutations are so obvious, and a small percentage of mutations are not even harmful at all.  So when a child is born with a genetic mutation that causes a disease, one potential treatment that is being tested with today’s technology is something called gene therapy.  Gene therapy, in essence, is an experimental treatment where new genetic material is introduced into the body by the way of a vector, the most common being viruses that have been inactivated.

When a disease is caused by a single genetic mutation, that is, one specific gene has a mutation at a specific location, it is considered a monogenic mutation.  This is what our kids have.  Their type of diabetes is caused by a single mutation located on the gene that tells the potassium channel how to act.  In their case, the channel remains in the open position, where a normal person’s potassium channel will open and close in response to the amount of sugar in the blood stream.  Hence the title of this series, Closing the Gap. One thing that has intrigued me through the years of dealing with this is the possiblity of gene therapy.  Why can’t it be just as simple as going into the cells and replacing the mutated gene with the correct gene?

According to Gene Therapy Net, there are currently 248 clinical trials for disorders and diseases with a monogenic cause (what our kids have).  The bulk of these clinical trials are treating well-known disorders like cystic fibrosis, hemophilia, muscular dystrophy, and severe combined immunodeficiency (SCID, aka “bubble baby syndrome”). There are scatterings of other diseases and disorders, but I doubt ours will be on any doctor’s radar for a clinical trial of gene therapy any time soon.  One of the most surprising discoveries I found was that the vast majority of clinical trials are happening in the US alone (over 1500)! While that is encouraging, gene therapy is still very much in its infancy, but at least those big pharmaceutical companies are starting to take notice and put their money into research and development.  There are conferences taking place all over the world now with some speakers from well known companies such as GSK (GlaxoSmithKline), Pfizer, and even a division of GE Healthcare.

So maybe we are still years out from being able to use gene therapy for our own kids, but at least science is starting to move in that direction.  Maybe one day, I will put my own passion to work and discover a way to join the ranks of the scientists and work toward fixing that gene.  Who knows, maybe the future is not so far away after all!

Spreading Awareness

One of the problems of having a rare disease is that awareness does not spread very quickly. It surprises and saddens me that we are coming up on 10 years into a new treatment for about 90% of patients with Neonatal Diabetes and still the estimated undiagnosed are in the thousands. Three years ago at the conference in Chicago, I remember the slides showing the numbers worldwide. Reported cases of different ND cases were just under 500. This year, the numbers were just over 500. I still find families in the Type 1 Diabetes community who don’t know about it and could possibly be tested for it. As for doctors, unless you are in the field of pediatric endocrinology, sadly, it’s unheard of.

So I’m on a mission. I want to spread awareness of this rare disease with a “new” life-altering treatment. I am back to working on my book with a passion and will begin sending out query letters to agents very soon. I am also contacting local news stations with our story in hopes of one of them picking it up soon. I think I will also try some other routes of exposure by working on some magazine articles and trying to get them published. I know that just being a blogger doesn’t make me a writer and I’m sure I need a lot of work to turn me into a true writer. But I also know that with enough passion and a loud enough voice, our story can touch the lives of families throughout the world.

If you would like to help me spread the word about this very rare but important disease, please comment, tweet, or post this on Facebook. Together, we can change lives.

Here is a link to the recap of the conference in Chicago.