Once you find yourself with a newly diagnosed child, or simply suspect that your child may suffer from hypoglycemia, chances are good that the world around you feels a bit out of place, and that it’s suddenly becoming difficult to navigate it all. One thing in particular, is the new terms you need to get a hang off.
After all, you’re now caught up in a strange new situation in which you must familiarize yourself with a massive cocktail of strange new words, odd abbreviations, diabetic-sounding slang and medical terminology.
On the plus side, you may have made new friends with other parents and diabetic/hypoglycemia patients through all the various social groups that are available online, but the terminologies and diabetic jargon may still seem to be foreign and unfamiliar to you. I know this, because I’ve been there myself.
I for one felt a bit cross-eyed, when our two wonderful kids got the diagnose Idiopathic Ketotic Hypoglycemia next to their name and I had to navigate this jungle of new-found blood-sugar related lingo.
Ketones, G-Tubes, Exome Sequencing? For all I knew at the time, I may as well have been reading NASA’s field manual to space travel engineering!
So – to make all of these super duper easy for you to digest, I’ve polished up and read through my notes over the years, so that you can get some peace of mind, in plain English.
The following (which I sure hope you’ll share with your friends!), has been my personal notes and definitions for what all of these strange new words mean for me, and for those two bundles of sunshine I have been so incredibly fortunate to love and care for! My hope for this piece is that you, by the end of it, will feel better informed, a tad comforted, and better equipped to take on the life (and pride) that goes into being a well-prepared parent that can handle and understand hypoglycemia regardless of the disease background!
“I am by no means a professor, MD or even a nurse. These are simply one mom’s personal survival manual to the Jumanji-like world of medical terms and strange language” – Danielle Drachmann from Hypomom
The guide will be updated (After all, a rare diseases parent gets their vocabulary refreshed with new tongue-twisters on a rather frequent basis). Don’t forget to check back later.
Without further ado – here’s the 3 Terms You Need To Know, if you, or someone you love is curious about hypoglycemia and want to learn more!
One of the first new, Space-like abbreviations I had to get used to, was the G-Tube. I first came upon this word when I logged into one of the many Facebook-based support groups for parents to kids with hyperinsulinism and ketotic hypoglycemia. Kids with G-tubes are frequently referred to as “tubies”.
- The 1-sentence-definition: A G-tube is an abbreviation for Gastro Tube, which is a tube that has been operated into your tummy.
- Why it’s important: A G-tube makes it easy to give preventive and urgent treatment for hypoglycemia
At home, Noah and Savannah, my two wonderful kids, are both going to bed with a tube-pump at night, which slowly gives them a stabilizing veggie juice as well as some of Nutricia’s Fantomalt, (which is a Maltodextrin base). It’s being dispensed at a rate of 25-35 ml an hour, depending on how active our two troublemakers have been during the day, and their current blood glucose levels.
We were initially very skeptical and suspicious on behalf of our two babies, when we agreed to have these operated in. After all, a hole in your stomach, and food tubes are for really sick people, right?
WRONG! 😊 Your children can be just as full of life and energy as their peers, despite their tubes (although you do need to watch them well). As a matter of fact, that hole in the stomach is actually something that can later be stitched up so they can get back to normal life without much issue! Take it from one parent to another, when we tell you that these are not all bad – they may be life saving wonders, and we couldn’t be more thankful that medical innovation is at this level in 2019. It is super fast, and really, really efficient.
Our initial hold-back and the stigma around potentially having our kids playtime be limited compared to quote-unquote “healthy kids” was something that really left us with a bad taste in our mouths! Thankfully, all those fears were put to shame when you look at how much their quality of life has improved since that little magical wonder called g-tube came into our lives!
Prior to this, we had them in hospital way more frequently (sometimes as much as several times a week), where today, post-G-Tube, we’re often home for months without any dire visits to the hospital. All of that, thanks to the wondrous medical device known as a G-Tube. No more would we need to get out that dreaded Cornstark-porridge when our two wonderful Drachmann Juniors didn’t feel like eating but had to get their blood sugar stabilized.
In summary: G-Tubes has been a life-saver for the Hypomom household, and even though you may still feel a bit put off by the idea of a tube – take it from us – you’ll want to send over a bottle of champagne to your doctor soon enough! 😊
Next up is Ketones, and that’s another one of those riddle-like words that make you want to go: “Huh, is that another word for Kryptonite?”. Ketones took awhile before it finally made sense to me, so here’s what I believe best describes what they are.
SO – when your body is losing available glucose (you know, your body’s primary source of fuel!), and your glycogen in the lever are all used and gone, blood sugar and insulin are both lowered and that body of yours starts prowling for alternative sources for delicious fuel, in this case – fat! Ketones are mormes when the body converts fat to glucose.
Professor Jacob Petersen from Novo Nordisk dropped by, to give us an understanding of ketones in diabetics:
“In diabetics it is a little different. The most common cause of ketones in diabetics is insulin defiency. Without enough insulin, glucose builds up in the blood stream and can’t enter the cells. The cells then burn fat instead of glucose like described above. For people with diabetes ketones should be lowered by a combination of insulin an carbohydrates so the glucose stored in the liver as glycogen can be build up again, thereby rebuilding defense against hypoglycemia”
Ketones have a characteristic smell which can easily be detected in breath. It is often described as fruity or like nailpolish remover.
In summary: Ketones are what’s left from when your body has been burning fat to convert into glucose (rather than burning glucose directly).
An example from real life
To put this into a real-world scenario – When my daughter was first diagnosed, one of the first things we did, was monitoring her ketones and blood glucose. After having a good look, we started seeing a clear correlation between high ketone levels and her feeling moodier than usual (moodier than your average 2-year old of course). To read more of our personal story with hypoglycemia take a look at http://hypomom.com/hypo-story/
Our bodies are different, and your ketones may start spiking at a different time from when mine does.
For instance – our sons glucose levels are almost always below 3.3 or less before his ketones begin to increase! Our loving Supergirl on the other hand, produce ketones as soon as she reaches that 4.0.
This is, by any definition of the word, a bit of a struggle because it means that even at a relatively okay blood sugar (4.0), she starts feeling upset (and let’s face it – a bit of nausea as well!), as her ketones start doing their thing – the net result is often that she loses her appetite.
When Savannah can’t eat due to elevated ketones, we often end up with her blood sugar levels taking a parachute dive, driving her ketones higher and higher.
To make sure that scenario is as rare as possible, we try to capture her ketone levels before they reach 0.5, making sure she can just fetch herself some juice or food, which then becomes the treatment with which we flush the ketones out of her body!
Thankfully, due to Savannah’s g-tube, we can treat a high level of ketones through the tube, even when she is suffering from a lack of appetite!! When her ketones are alarmingly high, what we do is make sure she’s on the tube, making sure she does not throw up, keeping those fingers crossed that our little princess can fight the nausea that comes with such high level of ketones.
Whenever that happens (it’s getting rarer and rarer, thanks to all of the awesome juices and recipes we’ve made!), all that’s left to do is make sure she gets a round of IV 20% glucose (administered at a local hospital). As soon as that’s in her system, she recovers like the champion she is, and we’re often back home within less than 24 hours!
So, to sum up: Ketones are good as fuel for the brain, but not quite as good for the appetite.
3. Exome Sequencing
When you get yourself a child with a case of unexplained hypoglycemia, you will most likely have made friends with the local hospital, as they try their best to identify the underlying cause of the hypoglycemia. What that means (and how you should read it), is that hypoglycemia is actually a symptom of a condition, and not the condition itself.
Very often, patients will find that the genetics they’re equipped to be part of the key that helps reveal what treatment they’ll need. The reason that is, is something called exome sequencing which is a test that will run your DNA sequence against a database of all known medical conditions in recorded medical history.
Tip: If you find yourself in a situation in which a doctor is recommending an exome sequencing, we’ve found this thread incredibly helpful, and thought we’d share it with you.
When a doctor takes your blood with the end purpose being Exome Sequencing, they sometimes take a few samples for the GSD Panel, meaning that they’ll send a blood sample down to have your genetics test specifically for GSD.
GSD is short for Glycogen Storage Disease (Metabolic disorder associated with hypoglycemia)
An example from real life
Granted the speed in which EXOME checks operate, you’ll likely get a response about the GSD much faster than the results from the exome sequencing. In our case, our professor suspected our kids symptoms to be a GSD-related disease. The GSD panel results however, showed us that they did not have a pure GSD disease, but that our son was carrier of both GSD type 1b and GSD type 5.
Noah thus got the type 1b gene from myself, and the type 5 from his dad. Our doctor was wondering to himself: “Huh, was this the cause of Noah’s hypoglycemia then? – that he was carrying genetics from 2 GSD types”. It is known among the GSD community that you must have 2 of the same genes in order to get diagnosed with GSD meaning one on each on your two chromosomes.
The day we finally got our answers from the Exome Sequencing saying that Savannah was not carrying any GSD genes at all, unfortunately coincided with the first day that she was admitted by ambulance due to severe hyperketotic hypoglycemia.
Exome sequencing later showed that both Noah and Savannah (and myself) all had been the lucky recipients of a rare gene mutation (although I’m not quite an X-Man yet!), which might potentially be a brand new type of GSD. This gene mutation seem to be the only common denominator in all of our shared genetic material, but unlike other GSD types, there is only one gene from the parent, and not two.
The exome sequencing has been a beacon of hope, as it was what might give us an explanation as to why we found ourselves in such a genetic quagmire. Through it, we were equipped with the hopes of a treatment and cure. However, we are painfully aware that new drogs for individuals suffering from rare genetic diseases are not high on the pharmaceutical industry agenda so our hope is that once we better understand our disease that a drug that is already out there will be effective.
Having reached this far, we now know the kids and myself do not suffer from a known condition hey can scan for in the system. What we do know however, is that talented and well-read doctors found this “something” in our genes, and for that i am hopefull for them finding a better treatment plan – despite that “something” being a new gene mutation!
I am still under the strong conviction that there’s others like our little family out there, and that their story might help shed light on how our genetic code’s puzzle might be solved on day in the future.
In the meantime, if you’re out there, and you’re going through anything like the test above, or hypoglycemia in general, please feel free to reach out to the fantastic team over at Congenital Hyperinsulinism International, spearheaded by Julie Raskin, or me here on Hypomom.
Note: We’ll be attending The Congenital Hyperinsulinism Family Conference 2019 in Vienna, Austria in September. If you would like to meet up with both us here at Hypomom, as well as the biggest hyperinsulinism team in the world, make sure to book a ticket and come say hi!