Family Update - Isaac

Isaac has become quite the big brother to Elliot. He helps to keep him safe while also being a bit rough at times. I can't believe it but he just started first grade! He's doing really good at reading and is starting to get into math. Right now he's really into legos, especially Star Wars legos. And he's gotten very good at building things on his own. Now that Andrew is working on this side of the lake, closer to Isaac's school, he has been able to start an after school activity - KARATE! He's so excited. It seems like a really good program and is helping with focus and discipline.He's also recently lost two of his teeth, which he was really excited about. Isaac makes us laugh daily. It's funny how observant he is.

On Fourth of July weekend, Isaac had yet another hypoglycemic episode while we were visiting with Tat and Omi. He went to sleep that Saturday night without taking his cornstarch and the next morning, he was seizing. Once again, we found ourselves in an ambulance. This time, spending the night for observation. He followed up with an endocrinologist and nothing was found. Not sure if I shared this but last fall he was diagnosed with a genetic disorder of PTEN sequencing. It's called Bannayan-Riley-Ruvalcaba syndrome. Say that 5 times fast :). In a nutshell, it puts him at risk for noncancerous tumors called hamartomas. He has to have a skin check by a dermatologist and a thyroid ultrasound each year. We're planning on the skin check in October and the ultrasound checked out ok. According to the geneticist, the hypoglycemia should NOT be linked to this disorder. He did find ONE research article that may support a connection. We enrolled Isaac into a study for another cause of the hypoglycemia.

Right now, he still has a diagnosis of exclusion - ketotic hypoglycemia.

Here are some pics from Isaac over time since  my last post. We're gearing up for his 6th birthday party in a few weeks!

 Playing in the "snow" during the big freeze

 

 

 Mother's Day (He insisted on wearing a tie for the "fancy" day)

 

First day of First Grade:

A Second Opinion

I know I haven't mentioned Isaac's hypoglycemia in awhile. That's a good thing, because he hasn't had any recent episodes. We have been giving him cornstarch before bed and paying extra attention to keeping food in him when he's sick. But we still have no answer/diagnosis. Today we visited the geneticist at Children's Hospital-Dr. Marble. He's really smart and good at his job...he specializes in metabolic disorders. I would know-working at Children's, I'm training in helping the metabolic dietitian :).

He basically got his history and did a physical exam. Isaac will be getting some labs drawn on Saturday to help with a diagnosis.For the most part, he did rule out some disorders. Now he's thinking it may be possible for him to have some type of glycogen storage disease (a defect in the breakdown of stored glucose to glucose you can use when fasting)...although this usually causes an enlarged liver, which he does not have. He also mentioned possibly having just ketotic hypoglycemia. This is better than nonketotic hypoglycemia. Making ketones is a normal response during fasting...it feeds the brain during those periods of fasting. And of course, there are other disorders on the table.

We had to reschedule his 4 year checkup but according to his measurements today, he's growing well! He weighs 34 lbs 5 oz and about 39 inches tall. His BMI/age is 50-75%, Wt/Age 25-50%, and Ht/Age 25%. His height took the biggest jump! In February he was between the 3-10%. So we are very excited about his progress.

Please keep him in your prayers and let us hope that we can find some answers to these episodes that he's had in the past.

Not Again...

Isaac had another episode today. The crazy thing is that I was just letting up a bit. I did notice a slight cough and runny nose yesterday though. And he didn't eat a lot of dinner, so I decided to check it at 1:15 am. I got 80 (a good number). Because of Mardi Gras holidays Andrew was staying home with Isaac today. I was worried that they would sleep late and that Isaac would need to eat so I checked it on a whim this morning around 6:45..I was not expecting to see "Lo" on the screen. Because Isaac was sleeping, it was hard for me to assess him. I blamed the glucometer and decided to change batteries. I did, and when I took it again it was 20. Once again, that is severely low.

I yelled for Andrew and tried to wake Isaac up. It's so weird. After every episode like this we get more and more prepared, yet I still feel lost. I knew that we had to give him a serving of carbs (15g) but I also knew that I couldn't just shove food down his throat. I grabbed the glucose gel and started dabbing it on his gums trying to get it to absorb. He woke up a bit and fought back, and I have to say that it made me happy. Then his teeth clenched, and I was waiting for a seizure...it never came.

I knew the protocol: "Give 15 grams of carbohydrates, wait 15 minutes and retest." Well, 15 minutes is a long time. As time went by he started becoming pale and a bit limp.

I called 911. I have a glucagon shot to give if needed as well, but I'm so scared to use it. (Glucagon does the opposite of insulin-it helps to raise blood glucose.) The paramedics told me just to keep giving the glucose gel.

By the time EMS got to us, he was doing a bit better. They couldn't get an IV in him on the way to the hospital, so they kept giving him more glucose gel. He threw up a little bit but he was sitting up in a little carseat. That's when I noticed his eyes not focusing well, like in the past. In the ER his glucose slowly went to 113 from getting his IV fluids. He was discharged and we went to see the endocrinologist right away.

I don't get much from her. All his labs came back normal, and we were told to follow up in 4 months. Gee, thanks. In the meantime, we need to continue the snack at bedtime.

Yeah, got that. Thanks.

I think we'll be going to Children's Hospital for a second opinion. Not that I don't trust this hospital, in fact, I have nothing to complain about. But, they haven't found anything. I'm no expert in this stuff but dropping 60mg/dl in 5 hours seems like a LOT. I just want another opinion.

I'm really starting to feel powerless over whatever this is. I used to think that as long as I can check the glucose then it'll help my peace of mind. I never thought that it would drop so much so quickly. I knew he had a little cold, but I thought that it was under control. I just wish I can make this stop. I hate to see him go through this each time. And I don't know what's scarier...seeing him have a seizure or looking at him pale and limp. Either way, it's a lot to handle! And now I'm not sure how to deal. At this point I'm wondering if sleeping 2 hours at a time will work!

I'm glad that Isaac's stable now and we're trying our best to keep him well.Please keep our family in your prayers. Here's a pic of him tonight after eating his oatmeal+cornstarch before bed.

Follow Up

Today we went to see Dr. Niyazov (geneticist) for a follow up appointment. After the visit in November, he took a lot of blood and sent everything out to get tested. It was a lot of chromosomal stuff and took a while to get the results. Well, they came in and we went over them today.

It appears that everything is normal, chromosomal-wise. At this point the diagnosis is ketotic hypoglycemia. It seems that this is basically what's left when other disorders are ruled out. Now, he also mentioned Glycogen Storage Disease Type O. He didn't diagnose him or anything, but I guess it's a possibility. I honestly don't think it's that black or white. If you're interested, you can click on the link...but honestly, I don't think it really matters. Either way, we have to be mindful of his glucose and make sure he eats regularly. If he gets cornstarch before bed (we usually put it in oatmeal or yogurt) and he's not sick, then we won't have to really check his glucose.

To tell you the truth, I have to feel really comfortable to NOT check it. I just feel like since it doesn't wake him up...what's the harm? I mean, seeing my child seizing is not something I want to see again. If a simple poke on the finger helps to prevent that, then why not?

The doctor was very pleased with Isaac's development so far. His weight and height are good on the charts so even though his growth hormone is a little low, he's not concerned. His head circumference is almost on the charts now (it was over). Also, he was very pleased with the improvement of speech. So even though we don't really have answers, we're relieved. If it is ketotic hypoglycemia, it's something he'll grow out of. Thanks for all your prayers!

Here's a video of Isaac in the doctor's office. Andrew's been working with him to say "I love you." Halfway through he stopped and said "cheese" for the camera, thinking I was taking a pic. haha. he is TOO cute.

Midnight Snack

For the first time that we've been checking Isaac's glucose at night, I had to wake him up last night and feed him. It's so scary to think that if I didn't wake him up, he probably would have had another episode. I stayed up late and before I went to bed, I checked it and it was 75. For it only being 12:30, that's pretty low. I checked it again just to make sure and it was 81. That's still pretty low. It's just weird because he's been acting completely normal. Now that the glucose was running low I'm wondering if he's getting sick. Anyway, I woke him up which was a task in itself, and gave him a piece of bread with peanut butter and milk. It was pretty funny to see that even though he was half asleep he had no problem eating the bread. haha. I went back to sleep and woke up 2 hours later to get a normal value.

His pediatrician will be calling the specialists on Wednesday to see if his genetics tests came back. In the meantime, we've got to make sure he gets his cornstarch before bed. I guess we slacked off a bit...well, as long as we stay ahead of the game then we're ok.

Health Update/Endocrinologist

We saw the endocrinologist the other day to see if there was anything hormonal going on. Usually when it comes to glucose and insulin, that's where the referral goes.She looked at his growth charts, and since he's been growing consistently, she didn't see much. She took some blood and after the initial test, everything was normal but the cortisol level was slightly low. When they did the repeat, it came back all normal.

So far now, we still don't know anything. We're waiting to hear back from the geneticist about tests that he had to send off. One lab that they've been interested in is the alkaline phosphatase. It's been extremely high since the first ER visit. That can mean a number of things--some a bit scary. But, we've been informed by his pediatrician that it can also mean a growth spurt. He's had it come down quite a bit since then which supports that theory. A normal value would be ~45-150 and the first time it was tested, his was 2200. The last one that was taken was 400. So that's really good to know.

He's been doing great. We've been checking his glucose in the middle of the night every night and it's been normal. He's been eating just like normal (everything). And we've been paying very close attention if he's acting sick.

Please continue to pray that it's nothing. It's possible that as a toddler, he may just have trouble controlling his blood sugar when his body is stressed.

Another Health Scare

Just wanted to let you know that we had to bring Isaac to the hospital again two weeks ago. He had another hypoglycemic episode overnight, and in the morning he had some more seizure-like activity. He wasn't admitted this time, but we were able to move the geneticist appointment up. He told us that some of Isaac's labs are a little funky and we got some more bloodwork this past weekend. These are genetic, chromosomal tests and need to be sent off. We won't get back results for 6-8 weeks. He did tell us what he's thinking, but he also warned that he doesn't have a lot of information yet. He's thinking possibly a glycogen storage disease or a mitochondrial disorder. I only know about glycogen, nothing about mitochondrial disorders. And I'm not going to kill myself trying to figure it out.

For now, we're just praying for the best and taking care of our boy in the meantime. He's doing great as you can see by all the pics.Now that we've had an episode at home, we're much more prepared. I have been checking his glucose in the middle of the night and if it's already dipping, then we have to wake him up and feed him. Other than that, we're armed with glucose gel that we can rub in his mouth to get his glucose up quickly. I also have glucagon that I can inject in his thigh if I can't get it up and the seizure is not stopping. Hopefully I won't ever have to use that.

Please keep us in your thoughts and prayers. We have trust in God :)

Hospital Stay

Recently we had a major scare with Isaac that resulted in a hospital stay and I just wanted to let everyone know what's going on. One morning Andrew got Isaac up for school and kept telling me how tired he was, and he even fell when he tried to walk. I didn't see the fall and I didn't think too much about it. When we got to daycare, the same thing happened but he was really out of it so I came back home and tried to give him something to drink. We brought him to his doctor and he was getting worse and worse. By the time we were called back, he had a seizure. We took an EMS to the hospital and we found out on the way that his glucose was low...very low. In the ER he was taken care of and then admitted to the hospital to try to find the cause of his hypoglycemia. We stayed for two nights. He was doing well during that time, and they took some bloodwork. In December we have to follow up with a geneticist. They want to rule out metabolic disorders that may be the cause of his hypoglycemia. It may just be a case of hypoglycemia, which is possible. Because of the speech delay, they have reason to think it may be more.

So now we just pay extra attention to how long he goes between feedings. He loves to eat, so this isn't a problem. They think it may have happened since he was about to get sick (two days later he had an ear infection and bronchiolitis). I bought a glucometer and have to stick his finger when I feel necessary. I did it every morning for a week after the incident and only a couple times after that. They've all been normal. I'll keep you guys posted on what the geneticist says. In the meantime, please keep him in your prayers!