One thing is very clear to me here almost 5 years after I gave birth to my first born child with severe hypoglycemia.
Knowledge is power. Knowledge makes us capable. Knowledge gives us the tools to ask the right questions, which is the key to make sure your kid with hypoglycemia is getting the right treatment provided from the right specialist.
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 6 Terms You Need To Know, if you, or someone you love is curious about hypoglycemia and want to learn more!
1. Blood sugar / blood glucose
My introduction to the word “blood glucose”
When the nurse student told us Noah’s blood glucose was 0.8 mmol/L, I smiled and said, “That sounds super!”, just before she pressed the emergency button, and took him out of my arms, and ran… In that moment, I realised I had become a mother. When I ran after the nurse in my pink fluffy flip-flops, and saw the doctors and nurses came running from every corridor, trying to stabilize him with glucose water in the hallway, I realised it was bad. I saw them poking him with needles, saying it was impossible to find a vein, to start a glucose drop. The lady doctor, who tried to find a vein in unconscious 48 hours-old-Noah, told the nurse to call emergency in NICU. She could’nt find a vein. Second round of running through the corridors of the hospital started, with a court of nurses, doctors and me. The goal was NICU. When we got there, a large team of white robed medical staff was waiting us.
A nurse took my hand, and told me to stay outside. She ensured me, the doctors would do everything they could. I was in chock, sitting on the chair outside the emergency room, whispering to myself 0,8 was bad…
“He is doing okay right now. Now we have to see about the long term consequences”, the doctor told us casually during the morning-rounds the second week on NICU. Once again, we faced a new horrible truth of how bad a blood glucose of 0.8 mmol/L was.
I swore to myself, I would do everything in my power to be prepared. Prepared in advance on every medical emergency that could accur in relation to low blood glucose.
Blood glucose in general
A person’s blood sugar should generally be above 3.5 mmol/L to ensure that the body and brain get enough fuel to function properly. Some people who has had multiple recent hypoglycemic episodes, sometimes gets what is called “hypoglycemia unawareness”, where they don’t register symptoms of hypoglycemia. When the glucose hits 2.8 mmol/L or below neurological symptoms can occur like confusion, loss of consciousness and seizures.
Unlike diabetics, hypoglycemic children have low blood sugar. Diabetics have problems with high blood sugar because they only have a small production of insulin (type 2 or type 1 in the honeymoon phase), or no insulin production at all.
It is not unusual for babies to be born with low blood sugar, which we hoped was the case with Noah. A low blood sugar promotes the baby’s sucking reflex to help establish the breast milk flowing. Unfortunately, there are some children who get so hypoglycemic they don’t have energy to nurse.
Babies may also have low blood sugar because their mother has had undiscovered gestational diabetes during the pregnancy. This means the baby have gained high insulin production during pregnancy because the body has been trying to get the mother’s (and baby’s) blood glucose down. Inside the mom’s stomach, the baby is protected by the nutrition from the umbilical cord, which ensures nourishment. When the baby is born and the umbilical cord cut, the baby can still have an overproduction of insulin without getting the nourishing from the umbilical cord, and then the problem arises.
Insulin is a hormone secreted from the pancreas that regulates blood sugar from high to low. The higher the blood sugar, the more insulin is excreted there (unless you have diabetes and your pancreas is reduced or not working at all). If the newborn baby of a diabetic mother has too much insulin, while struggling to get the mother’s milk running (which often take 2-3 days), it won’t be long before the baby’s blood sugar is so low that the baby ends up in life-threatening hypoglycemia. This condition is called “transient hyperinsulinism”, which means “temporarily elevated insulin production”. After 1 month of intensive care, Noah became strong enough to nurse out of his hypoglycemia. He was therefore diagnosed with “transient hyperinsulinism” and subsequently discharged.
This was either a wrong diagnosis – or ketotic hypoglycemia replaced his transient hyperinsulinism. Noah had a life-threatening seizure with blood glucose down to 1.2 mmol/L when he was 17-month-old. God knows how many times he had been in hypoglycemia, without us knowing what was going on.
The wisdom in this? Trust your gut. If you feel something wrong, break down every wall you meet until a qualified specialist doctor listen to you!
We are so lucky Noah survived.
2. Safety fast
The safety fast is a necessary step to confirm the hypoglycemia, and is done at the hospital. While in hypoglycemia (2.6 mmol/L or below), the doctors take a lot of bloodsamples to get a step closer to a explanation of the hypoglycemia.
When in hypoglycemia (2.6 mmol/L or less), healthy people should shut down their insulin production. If the insulin production does not stop, it suggests that there is overproduction of insulin, and something is wrong in the pancreas. If this is the case, it leads to suspicion of the rare disease “Congenital Hyperinsulinism”. In addition, it is here checked for ketones. If the body does not create high ketones during hypoglycemia, it increases the suspicion of Congenital Hyperinsulinism, as these patients cannot switch to fat burning in the same way as normal people can. After Noah was stabilized from his seizure at the hospital, we were sent home with a blood glucose meter, to wait for the safety fast scheduled 2 months later. Unfortunately (or fortunately) Noah went into hypoglycemia a few days after his seizure, so the hospital called for an emergency safety fast.
Noah’s safety fast showed him shutting down on his insulin, just like he was supposed to. Congenital Hyperinsulinism was ruled out.
However, Noah wasn’t able to fast for more than 10-11 hours, through the test, before he was in a state of hypoglycemia. Noah was transferred to the specialist hospital for complicated hypoglycemia: HC. Andersen’s Children’s Hospital at Odense University Hospital.
Professor Henrik Thybo Christesen welcomed us. As many of you guys out there, I was sitting through sleepless nights, watching and monitoring my hypoglycemia kid while nursing his baby sister, in the quest of finding the best hypo experts in the world.
Google and CHI told me it was time to take a deep breath, and let Professor Christesen take charge of Noah… for the first time since I became a mother, I felt safe. For the first time since we almost losted our son, I trusted a doctor with his care.
But who is CHI? I’ll tell you.
3. Congenital Hyperinsulinism
CHI is the mother ship. A patient-powered-mother-ship, seeking to make awareness about congenital hyperinsulinism and hypoglycemia in general.
“Congenital hyperinsulinism (HI) is the most frequent cause of severe, persistent hypoglycemia in newborn babies and children. In most countries it occurs in approximately 1/25,000 to 1/50,000 births. About 60% of babies with HI develop hypoglycemia during the first month of life. An additional 30% will be diagnosed later in the first year and the remainder after that. With early treatment and aggressive prevention of hypoglycemia, brain damage can be prevented. However, brain damage can occur in children with HI if their condition is not recognized or if treatment is ineffective in the prevention of hypoglycemia. The material below explains the different forms of HI, the mechanisms of each type of HI, the genetic defects responsible for HI and their mode of inheritance. There is also information on treatment options and recent advances in diagnosis.
Insulin is the most important hormone for controlling the concentration of glucose in the blood. As food is eaten, blood glucose rises and the pancreas secretes insulin to keep the blood glucose in the normal range. Insulin acts by driving glucose into the cells of the body. This action of insulin has two effects 1) maintaining blood glucose levels and 2) storing glucose particularly as glycogen in the liver. Once feeding is completed and the glucose levels fall, insulin secretion is turned off, allowing the stores of glucose in glycogen to be released into the bloodstream to keep blood glucose normal. In addition, with the switching off of insulin secretion, protein and fat stores become accessible and can be used instead of glucose as sources of fuel. In this manner, whether one eats or is fasting blood glucose levels remain in the normal range and the body has access to energy at all times.
With HI, however, this close regulation of blood glucose and insulin secretion is lost. The pancreas, which is responsible for insulin secretion, is blind to the blood glucose level and makes insulin regardless of the blood glucose concentration. As a result, the baby or child with HI can develop hypoglycemia at any time but particularly when fasting. In the most severe form of HI this glucose blindness causes frequent, random episodes of hypoglycemia.
HI causes a particularly damaging form of hypoglycemia because it denies the brain of all the fuels on which it is critically dependent. These fuels are glucose, ketones, and lactate. The usual protective measures against hypoglycemia, such as conversion of protein to glucose (called gluconeogenesis) and conversion of fat into ketones (called fatty acid oxidation and ketogenesis) are prevented by insulin. Once the brain cells are deprived of these important fuels, they cannot make the energy they need to work and so they stop working. The lack of appropriate fuel to the brain may result in seizures and coma and if prolonged may result in death of the cells. It is this cell damage which can manifest as a permanent seizure disorder, learning disabilities, cerebral palsy, blindness or even death.
Hypomom would not have been established, without the support of CHI’s Julie Raskin. She is a true inspiration, showing the world how we – yes! you, me, your kids, your spouse – everyone can make the best of life, despite the difficulties living with hypoglycemia. Julie gathered the patients living with Congenital Hyperinsulinism and experts around the world. She is making sure every patient and CHI-family out there has a safe place to vent and like-minded CHI families to talk to, in her Facebook-support-group: “Congenital Hyperinsulinism International Family Support Forum”. Did she stop there? No. Her patient-powered organization is raising money to find a cure for Congenital Hyperinsulinism. Take a look at https://congenitalhi.org/ to see more of her amazing work, and to get more knowledge about Hyperinsulinism in general.
Julie is the mother of the mother ship, like Daenearys is the mother of dragons in Game of Thrones. Can we just take a minute, to salute her:
To Julie Raskin
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.
6. 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!