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?

Update

I know it’s been a while since I’ve done a major update.  Life has happened.  I have been back at work full time since August of 2014 and had a part time job that felt like a full time job from August 2012-June2014.  That being said, I feel that I need to get back to blogging at least on a part time basis.  So much has happened and we have reached so many milestones with the kids in that time, but the journey is still confusing and frustrating.  I still have new families find me through my blog and I feel like having the most up-to-date information on this site will be a necessity.

Yesterday, a documentary was shown on the PBS station in Chicago.  It was called Journey to a Miracle: Freedom from Insulin.  I have not seen the documentary yet, but I hope that it shows some of the challenges that some of us face, even though we did experience the miracle of taking our son off of insulin at 21 months of age.  While I agree that was a miracle, and hope that many more families can experience this same miracle for themselves, we still wait for the other miracles every day.  I pray that some day, I will be able to talk to my son in a real conversation.  I pray that some day, my daughter will be able to go to college.  I pray that some day, my children will experience love beyond our family.  But above all of that, I pray that they will live fulfilling lives.

It seems so far off right now, but I can say that there have already been miracles.

Andy became fully potty trained (day time) when he was almost 8 years old.

Katie became fully potty trained (day time) this past summer at 5.

Katie finally outgrew the screaming in the car phase (we’re still working on the screaming at home) and we are able to take at least short trips as a family now.

Andy is now reading site words and counting to 9 independently.  He can also write his name with some assistance (holding his wrist, not guiding).

Andy 11_2_14

One of the biggest milestones has been reached in just the last few days.  I’m almost afraid to write it down for fear he will regress as soon as I type it.  Andy has chosen for the last month to not wear diapers to bed.  It was a never ending round of washing bed sheets, underwear, t-shirts, and blankets.  But he absolutely refused to wear the diapers.  And then it happened.  {cue the angels singing the “Hallelujah” chorus}!  For the last 3 nights, he has been completely dry and slept through the night!!!!!!

What miracles have you experienced lately with your special needs kiddos?

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. http://kovlerdaily.com/2013/07/celebrating-miracles-milestones-a-recap/

New Tests, New Diagnoses, New Pills

It’s been an absolutely crazy busy month which is why I haven’t posted anything in so long.  Andy graduated from Kindergarten on Friday and the last day of school was Monday.  We are trying to find a house to buy (if we get approved) while also looking for a place to rent just in case we can’t get everything closed by our lease end (hello, NOT paying $2200 a month to stay here!).  Add to all of that a job search for summer and a teaching job hunt and I’m already exhausted.

Andy has once again added something to the mix of his symptoms for us to dig into.  Back in February when he was having those bad lows, I started noticing some unusual behavior.  He would just stop all of a sudden whatever he was doing, stare into space and his eyelids would flutter.  This all would take place within about 5-10 seconds and then would be over as fast as it started.  The first one happened when he was having a low so I thought it might just be a reaction to his low blood sugar.  But when it continued to happen off and on at varying times, I started to get suspiscious.  One day, I happened upon a documentary while channel surfing called “Autistic-Like” and many of the symptoms of this little boy were very similar to Andy.  When they mentioned having an EEG and finding out that he was having Absence Seizures, the light bulb clicked over my head.  As I listened to them describe what they saw as the EEG recorded the seizures, it sounded just like what I had been seeing in Andy.  Since Epilepsy is part of the syndrome he has (DEND syndrome) it has always been in the back of my mind, but I always just equated epilepsy with the grand mal type of seizures that were very obvious.  I had never heard of any other kind.

So I put on my research cap again and got down to finding out as much as I could about it.  When he had his yearly check-up in April, I mentioned it to the pediatrician.  She said it wasn’t an emergency, but that we should get it checked by the neurologist when we see him next.  I’ve mentioned it to our Neonatal Diabetes support group and got a few other parents responding that they have seen and/or been diagnosed with varying types of seizures.  So now, we are checking into it.  The neurologist told us that we needed to do an EEG to get a better picture of exactly what type of seizure activity he could be having since the treatment for different types can actually make one worse if you get it wrong.  So off to another test we go.  We are scheduled for Monday right now, but it may change as I have to coordinate with dear hubby with his job.  I also think he would be better as a support for Andy during the placing of the probes as he is much better at calming Andy down.  I’ll update when I can.

We are also starting Andy on some medicine for ADHD tomorrow.  After a year in Kindergarten and a discussion with the IEP team and all of Andy’s doctors, we have decided it is time to explore some medicine to help him calm down a little so he can focus.  Of course, with Andy’s reaction in February to the amoxicillin, the endocrinologist is very cautious about trying any new meds.  I’m a little scared too so we have decided to get him hooked up to a continuous glucose monitoring system (CGMS) for about a week.  It’s a pretty small sensor, but we do have to go to the clinic for the nurse to insert it somewhere on his body.  Andy hasn’t had anything permanently attached to his body since he was 21 months old so I’m curious as to how he will react.  He’s now 20 pounds heavier and much more muscular so I hope it won’t be too much of a struggle.  But it will give me peace of mind and that’s the most important thing.

With all of that going on, we are also finally starting some speech therapy for Katie.  It’s actually a class we are attending for 8 weeks this summer so I’m hoping to learn a lot.  Luckily, they were more than happy to have Andy join in and yesterday’s class seemed to go well.  At least the kids group leaders didn’t have to come get me in the middle of class, so I’m thinking that’s a good sign!  We are also attending a playgroup on Thursdays for toddlers.  Katie has been going for 2 weeks now and is doing well and the great ladies at the hospital agreed that Andy could come in too.  Today will be the first day for that.  We’ll see how it goes.  The main think I worry about is his size compared to the toddlers in the class.  Hopefully he can behave and maybe even learn a few things about social interaction.  Say a prayer for me to have patience.

Summer Has Begun! 🙂

Going Up and New Families

Finally after nearly 3 months of dealing with lows, both kids are trending up in their blood sugars.  Noses are not visibly running any more on a daily basis and all stomach bug issues are gone.  Yesterday Andy had a huge spike, mainly brought on by the fear that has gripped me over the last few weeks.  Even after dropping him to the lowest dose pill and splitting it in half, some days he would come home for lunch and be in the 50-70 range.  So when he came to breakfast and tested at 129, I decided not to give him any meds with his breakfast because I didn’t want to risk him going low at school.  When he sat down for lunch, he was at 544!  I was shocked, washed his hands and checked him again, to the tune of 547.  Gave him a full pill and an hour later, we saw the first HI on the meter that we have seen in more than 3 years.  Another hand washing confirmed that he was indeed HI (over 600). 

I am happy to admit that I did not panic.  It did run through my mind that I didn’t have any insulin in the house, but I pushed that thought away.  I reminded myself of all the articles I’ve read about Neonatal Diabetes and how sulfonylureas work in their bodies.  I knew that, unlike a shot of insulin, the pill would take a little longer to work, especially since he is on a reduced dose and doesn’t have a lot built up in his system right now.  Sure enough, by 2PM, he was down to 318.  He ate a wonderful dinner and had a snack later before bed so I gave him another 1/2 pill and he woke up this morning at 208.  Not a wonderful number and definitely not in the ultimate range, but it tells me that his body is going back to “normal” (whatever that is) and the slow increase of his meds is going well.  Maybe we will be able to get both kids back to their previous dose over the next couple of months.  At least the lows are gone, FINALLY!

One of my passions with Neonatal Diabetes is in research and finding other families so they can be connected and find the support that wasn’t there just a few years ago when we started on our rare journey.  It amazes me that the more families we find, it seems the more genetic mutations start showing up.  Over the last 18 months since starting this blog, I have connected to several other families who have either found out they have a form of ND or are being tested.  There is still so much that is unknown about it and the doctors are learning right along with the parents and patients.  I was able to connect to one family whose daughter has Transient Neonatal Diabetes and started going into remission just as she started glyburide and now generations of family members are either transitioning off insulin or being tested for the genetic mutation. 

Then there are the unusual cases of familial diabetes that even the doctors can’t explain.  One baby was started on glyburide and it seemed to be working in the beginning but after a period of time it just wasn’t working as efficiently so the baby is now back on insulin.  That is also another case of other family members being diagnosed young.  Maybe someday they will have a miracle like ours, but maybe in a different way.  My heart goes out to that family.

And finally there are those who are waiting.  One other family is waiting for the test to come back.  A test for the baby and the parent.  Another case of a family history.  And one family whose baby was diagnosed after 6 months of age, but just not presenting like a typical Type 1 so the doctors are questioning and testing, just to be sure.

I think that is what needs to happen.  Even if these tests come back negative.  Even if the tests show a possible genetic mutation, but the pills don’t work.  Every test helps the doctors understand this rare diabetes even better.  Every test helps another family know that they did everything in their power to make a better life for their child (or themselves).  More than four years ago when I was getting Andy tested, I told myself that I was doing it for one reason.  I didn’t want to find out 20 years from now that he could have lived a different life.  I wanted to be sure that he was on the best type of therapy for his diabetes.  That is the reason this test is so important.  To Know.

My thoughts and prayers are with all the families who are waiting, transitioning, and finding out today.  If you need support of any kind, please don’t hesitate to ask.  If I can’t answer from my own experience, I can direct you to a doctor or family who can.