Endocrine systems, a go!

I took Isaac to the endocrine clinic a few days ago. It's at a teaching hospital so we saw 4 doctors. The fellow (training to be a pediatric endocrinologist) did Isaac's assessment, history, and plan. She had a resident with her. The fellow was very well informed about UPD6 and even some obscure long term possibilities (way down the road) like HFE-associated hereditary hemochromatosis. I was very pleased with the research she'd put into it, and felt like we were on the same page. After she did her evaluation, the endocrinologist came in for a few minutes with an intern.

Since his diabetes is in remission right now, there isn't as much to be concerned about. In times of illness his blood glucose may spike, so we were given a script for insulin and advised to monitor him closely when he's sick. The fellow demonstrated how to dilute insulin at home so we won't have to rely on a special pharmacy on a weekend. Simple enough. It's all in a bag which I hope I won't have to open. It is reassuring to have it though, in the event...

Isaac is growing well! He's long, 75th percentile, and chunky, 90th percentile. His doctors feel that he is right where he should be as far as growth is concerned. They also did an A1c, which was 5.6. He's well within normal, non-diabetic, limits.

At the clinic, he was a terrible flirt. He charmed the nurse who measured and poked him. "Aww, what a cute little fellow you are!" He flashed gummy grins at all of the doctors, and kicked and squealed with delight when they smiled back at him. You can't help but grin at this happy, social baby.

Isaac rolling away. He rolls back to tummy and tummy to back with ease now.

Endocrinologist

Spoke with the endocrinologist today. He showed me some insulin graphs. Apparently even on Lantus, individuals who don't produce insulin will have higher peaks and valleys. Isaac has been fairly stable, leading the endocrinologist to believe that Isaac is able to produce more insulin now. He does well for about 18 hours on one dose of Lantus and then the endo theorizes that his pancreas cells give out and the Lantus also peters out. It trends upwards fairly sharply after that point. I asked about doing another C-peptide test, and he said that was something we could definitely do down the road. It would show whether his insulin levels have increased, but he was sure just by looking at his glucose levels that he was producing more.

Great news! Perhaps, perhaps, this is transient diabetes. Still not possible to tell, but maybe! At any rate he only needs a small dose of Lantus, so that in and of itself is great.

It is not good when your case interests the edocrinologist...

I saw the endocrinologist today. She started discussing the case with the nurse practitioner. I asked a question, and she gave me a long look.

"And you are?..."

"Rachel." I replied not quite getting what she was asking.

"His mother?!"

"Yes!"

"Oh! You looked too good to have just had a baby."

It is silly, but that made me feel a little bit better.

She was quite friendly and more than happy to discuss the case with me and help me understand a bit more on what was going on. Unfortunately some of it went over my head, but I'm trying to pick up what I can. She has cared for infants in the past with neonatal diabetes. From what I gathered, there are numerous reasons a newborn could have transient or permanent diabetes. It could be a goof up on chromosome 6, or it could be a problem somewhere along the line with the sulfonylurea channel in which the insulin is made, but can't be excreted by the cell. She's planning to start him on sulfonylureas to see if that improves the situation. There is a genetic lab in England that follows cases like these, but they want more information on Isaac before they get involved.

On a good note, the endocrinologist seemed optimistic that Isaac has transient diabetes rather than permanent. She was also pleased that he came out a good size for a baby with diabetes.

Apparently Isaac's sugar numbers while very, very high are not in the upper bracket of blood sugars. She's seen kids with sugars as high as 1500, numbers that would basically take out an adult. "These kids (diabetic newborns) are very, very resilient." She is most concerned with his numbers getting too low and causing seizures and shock, so they are carefully monitoring his sugar levels and insulin. Another primary concern is keeping him well hydrated, because just as in type I or II diabetes, these kids pee constantly. This is why keeping track of wet and messy diapers (he made a lot of those too), wasn't a good indicator of Isaac's health before we brought him in to Primary's. He couldn't make use of the milk he was eating, it was just going right through him. Basically his organs were starving.

As far as long term consequences, the endocrinologist called that a "loaded question." There are a number of possibilities depending on what exactly is going wrong. For one, he's slightly more likely to develop type II diabetes later in life...

From what I gathered, there are still lots of questions, but the focus right now is to control Isaac's sugar and have him gain some weight. The hope is that it is transient diabetes and it will go away over time.

Currently the endocrinologist is optimistic about Isaac. She says she doesn't sugar coat news or give false hope in order to make the parents feel better, because that isn't fair to the parents.

This is all brand new to me, so I may have misheard or misunderstood some things. As I learn more I will write more. For those that are interested, here is one of the articles the endocrinologist referenced, published in The Orphanet Journal of Rare Diseases. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1847805
It goes into a lot more detail than I have. My brain is tired right now and I haven't been able to digest it all yet. I plan to delve into some more articles, read up some so I can ask more intelligent questions.