Noah and Savannah

“We thought Noah was born with hyperinsulinism. He was 2 days old, when we were admitted with a blood sugar of 0,8 mmol. After 4 weeks with 50% glucose, he was better. The doctors and nurses told us he had outgrown his transient HI.

We came home, and tried to start a normal life, with a baby who screamed whenever he wasn’t eating. He screamed so much that the hospital made an appointment for him with the infant psychiatrist. He developed perfectly according to their scale, and they calmly told us not to worry at all.

Even though he continued to scream whenever he didn’t eat.Little did we know; something was so very wrong.”

  • Location: Denmark
  • Diasnosis: Idiopathic ketotic hypoglycmia,

The first symptom: low blood sugar

We thought Noah was born with HI. He was 2 days old, when we were admitted with a blood sugar of 0,8 mmol. After 4 weeks with 50% glucose, he was better. The doctors and nurses told us he had outgrown his transient HI. We came home, and tried to start a normal life, with a baby who screamed whenever he wasn’t eating. He screamed so much that the hospital made an appointment for him with the infant psychiatrist. In his first year, he was seen by the neuro team, to ensure Noah was not brain damaged from his transient HI at birth. He developed perfectly according to their scale, and they calmly told us not to worry at all.

Even though he continued to scream whenever he didn’t eat…Little did we know; something was so very wrong.

Our first seizure

When Noah was 17 months old, and big brother to 6-week-old-Savannah, he had a seizure one morning. The paramedics measured his blood sugar to be 1,2 mmol (21.6 mg/dL). Sadly, for Noah, and us, Noah was admitted in the weekend, where there is a lack of hospital staff. No action was taken, and we were told to come back a few months later to do a safety fast. We took Noah and a glucose monitor home, terrified that our child might die in our care, while waiting for the fasting test.

A specialist doctor and a diagnosis

A week later, Noah was low again, and was admitted with a blood sugar of 2,6 mmol (46.9 mg/dL). The hospital decided to do an emergency fasting test. Finally, Noah was transferred to the HI specialist, Henrik Thybo Christesen at Odense University Hospital, also in Denmark. After a long wait for genetic testing, Noah was diagnosed with idiopathic ketotic hypoglycemia. Translated into human language; Low blood sugar with ketones, with no known genetic cause.

After Noah was diagnosed, I was finally able to focus on baby Savannah, who had nursed every 30 minutes for the entire first 17 months of her life. One night, she was also admitted to the local hospital with high ketones and a blood sugar of 3,7 mmol (66.7 md/dL). The pediatric endocrinologist told us to just give her some more food.

Glucose monitors and ambulances

Yeah… right… My 17-month-old girl with thighs as big as her tummy, was starving. No, I did not buy into that. Not by a long shot… It didn’t make sense that she should need to eat more.

I reached out to Dr. Henrik Thybo Christesen, Noah’s doctor. He gave Savannah a Dexcom (continuous glucose monitor), and asked me to cut down on her nursing at night time, to see how her body would react. Savannah reacted the very first night, and was admitted to the hospital by ambulance…. Savannah is now also diagnosed with idiopathic ketotic hypoglycemia, just like her brother.

And me. I am not an ADHD patient – even though many of my symptoms are similar. As it turns, out, I am a ketotic hypoglycemia survivor, and a mother of two warriors, fighting a disease most doctors know nothing about.

Magic buttons and new-found enthusiasm

With their tubies (g-tube) and their magic button (Dexcom, CGM) they live life with an enthusiasm and passion I can only admire.

Our hope of a cure, a treatment and a patient support organization quickly crashed, when we discovered how little knowledge there was about ketotic hypoglycemia. Luckily, we heard about Congenital Hyperinsulinism International, and this became our safety zone of likeminded families and specialists from all over the world.

Even though we don’t produce too much insulin like the HI patients, our symptoms are very much alike. Low blood sugar, caused by too much insulin, or low blood sugar caused by an unknown metabolic disease, is still the same life-threatening hypoglycemia.

What’s next?

I will make an effort to unite the ketotic hypoglycemia patients with the worlds leading hypoglycemia experts, in this patient union. I created www.hypomom.com where I share stories, tips and tricks, and show that hypoglycemia is indeed something you can live with – and live well!

To all of you parents who cried like me when you realized that the doctors believed you didn’t feed your child. To all of you parents who cried when genetics testing came back without an answer, and to all of you parents who everyday are fighting to normalize daily life of a child with a rare disease:

You. Are. Not. Alone.

Best regards,

Danielle, IKH patient, IKH mom and founder of Ketotic Hypoglycemia International

Hervør and André

“They told me her body was completely exhausted, and that was the reason she didn’t respond to anything (her eyes did not even move). Then I got rice porridge in the room for me at 23pm, and I thought: “I’m not going to sleep before I have given my daughter something to eat”. I laid the spoon on her tongue and let the fluid flow into her mouth, and I did it again and again. Half an hour later she began to move her eyes and respond to me.”

  • Location: Faroe Islands
  • Diagnosis: Ketotic hypoglycemia, suspected GSD 

We almost losted our youngest daughter in 06 January 2017 when she was almost 1 years old.

She fell down on the floor and stopped breathing and had no pulse, this was at 20:45pm  the tongue stuck out of her mouth, her eyes rolled on, and she became completely pale and blue, she came back to life and few minutes later she was gone again, the two other kids were screaming – she is dying – my mother (their grandma called 112 (911)) and the hospital told us in the phone that this was epilepsy (because my mother told them that the body got stiff) and the hospital said that we couldn’t do anything. She came back to life again and the ambulance came, and the porters did nothing, because they were also told from the hospital that it was an epilepsy (even though she wasn’t responding to anything and still was pale). She was at intensive care unit and still wasn’t responding to anything for 2 1/2 hours. The staff on the Hospital also said that it was normal when someone had an epilepsy seizure. They told me her body was completely exhausted, and that was the reason she didn’t respond to anything (her eyes did not even move). Then I got rice porridge in the room for me at 23pm, and I thought: “I’m not going to sleep before I have given my daughter something to eat”. I laid the spoon on her tongue and let the fluid flow into her mouth, and I did it again and again. Half an hour later she began to move her eyes and respond to me.

Today when I know what was going on, I can’t imagine what had happened if I did not do that and had just laid myself to sleep that night!

I am so bitter about why the doctors didn’t do something more and how they blinded themselves to epilepsy.

Before all this, she was a happy little girl, that grew and developed as she should. But after I stopped breastfeeding her, in December 2016 she immediately got sick, she had constant diarrhea, vomit, sweating, shaking, and fever. 24th of December I called the hospital and said that I wasn’t comfortable to having her at home anymore. The ambulance came and took her to the hospital, they took some blood test and we were sent home again the same night, and 23 days later (06 January 2017) we almost lost her!

We were so worried about her after that incident.

If the doctors had looked after her blood test from 24th Decebmer 2016, they would have seen that there was something wrong already there, but they didn’t!

No one could find out what was wrong with her. She started in Kindergarden, but was sent home almost every time (she was there so rare, because she always was sick) and if she got to sleep in the carriage, she slept so deep that she was tough to wake again. So, we decided that we would not lay her to sleep alone again in the middle of the day.

When she got older (about 2 years old) her symptoms began to be much worse, and we knew clearly that here was something wrong with this girl, because her body couldn’t be in itself, she lost her hair, got nose bleeding all the time, and she got hysterical seizures through all the day, it was hardest every morning when she woke up, and we could’nt do anything with her, before she had had her breakfast. She refused everything, was just screaming (we knew that this wasn’t our little girl) She refused any food or anything, closed her mouth so we had to hold her and get some liquid in her mouth, then 2-3 minutes later, her body relaxed. This was going on for about 6 months before we by our own contacted the specialist Ulrike Steuerwald. The doctors in the hospital couldn’t find out what was wrong and took us not seriously enough.

It was a coincidence that I contacted Ulrike Steuerwald, but we were so desperate, I found Ulrike on Facebook, and I took a chance and wrote to her on messenger, to see if she was able to figure out what was wrong. Because every day was a struggle (all we knew was that the local doctor had sent us to the hospital 3 months before this, because he had measured low blood sugar at 2,7mmol/L and said this was not normal)

And just by writing to Ulrike about everything we had been through with our daughter (Ulrike lives i Germany and we in the Faroe Island) she knew what was wrong and told us to change the diet. Our daughter changed almost immediately

Ulrike Steuerwald saw our daughter for the first time 3 months later and diagnosed her with ketotic hypoglycemia and then she told us all about this blood sugar and ketones and how we should do.

2 months later we tested our son’s blood sugar and ketones one morning, because I recognized the symptoms, I’ve read about in GSD patient and the experience we had with our daughter.

Our sons blood sugar was 2,7mmol/L and ketones 5,8mmol/L, and I immediately contacted Ulrike Steuerwald again, and 11 days after he was also diagnosed with ketotic hypoglycemia.

When André was about one year old, he also fell down and got unconscious for about 1 minutes, the ambulance came and we got to the emergency, but they only said that maybe this was how he responded when he did fall. This also happened in the Kindergarden. One day they called me at work and said my son just fell down and got unconscious, and asked me what to do, I got hysterical scared and just said call 112 (911) and i hang up, and called my mother, because she was in the same village and i was in another town at work. My mom drove immediately to the Kindergarden, and when she came there, he was by consciousness again.

There have also been several times in the Kindergarden, that he got no energy, and just sat down and fell asleep, while other children on his age ran and played together and he was asleep, and then when he woked up and got something to eat, he was feeling well again.

Hervør and André’s blood sugar are dropping very fast if they consume sugar (just one bit of a cake). If they to, about 7-12 minutes later, they will go low. At the moment we avoid any fast sugar and they are eating often, with very low carbohydrates and are getting regular cornstarch to keep the blood sugar up.

The first symptoms our daughter said when she could talk were

  • my heart is “knocking on”
  • I have pain in my body
  • I have a headache

I’ve been pausing my career for a while and am now a home going mom to look after my 2 gold nuggets so we also can get the situation stabilized, and we are learning to know our children, with the low blood sugar and ketones, to figure out what works best for them to thrive and develop.

As parents we can both relate to much of all this from when we were kids and a younger age. And I can myself just say that my body can’t find out to use sugar properly. I feel best when my blood sugar is between 5,0mmol/L – 6,0mmol/L lower and higher I feel as shit.

I hope one day there will be some answer for all of us

Kitty Madsen, mom to Hervør and André

Declan

“Upon arrival Declan was still conscious and seemed to be doing well compared to other instances… well almost in a moment notice he went from stable to critical. His temperate was falling even more, his blood sugar was to 19, his BP was falling and he was now unconscious. After the medical team retrieved the blood work and worked on stabilizing him he was not responding to treatment… it took Declan’s blood sugar to get up to near 300 for him to wake up.”

  • Location: South Carolina, United States
  • Diagnosis: Ketotic hypoglycemia 

This is Declan, he has been diagnosed with Ketotic Hypoglycemia. Declan came into this world having issues right off the bat. After his third day of life his blood sugar fell to 11. I experienced seeing him have a seizure and lose consciousness. The Drs. ended up chalking it up to him transitioning into life. 14 months later Dec woke up tired, crabby and almost flu like. Later that evening after a whole day of resting/eating Dec lost consciousness and his blood sugar fell to 21. The doctors believed this was a separate event from birth and not related but ketotic hypoglycemia was mentioned. We were referred to an endocrinologist where she had ordered pre-designated tests at my local children’s hospital for the next episode if it occurred… 5 months later we experienced another episode… this one was slightly different. I had noticed signs of flu like symptoms (cold sweat & lethargic) and took him temp and noticed his temp read 94 and immediately tested his BS upon results he was 46 so I packed up our things quickly and we headed to the hospital (15 mins away). Upon arrival Declan was still conscious and seemed to be doing well compared to other instances… well almost in a moment notice he went from stable to critical. His temperate was falling even more, his blood sugar was to 19, his BP was falling and he was now unconscious. After the medical team retrieved the blood work and worked on stabilizing him he was not responding to treatment… it took Declan’s blood sugar to get up to near 300 for him to wake up. We were referred to a geneticist to test for GSD with inconclusive results. We are now being referred to Duke University for further clinical studies.

Elizabeth Ann, mom to Declan 

Amelia

“We got the ketotic hypoglycemia diagnosis after we started taking her sugars when I mentioned she woke up frequently shakey, lethargic and shoveling food in her mouth. It started around a year once I weaned her. Our first pediatrician said it was normal. We moved to California and I mentioned it to our new pedi who told us to start taking her sugars and if they were low, check ketones as well. We did this and found out she frequently dropped into the 30/40s. We took her in for critical labs when she dropped to 34 one morning and her ketones were 3.9”

  • Location: United States, California
  • Diagnosis: Ketotic hypoglycemia
     

This is my daughter Amelia. She’s 3.5 yrs old
We got the ketotic hypoglycemia diagnosis after we started taking her sugars when I mentioned she woke up frequently shakey, lethargic and shoveling food in her mouth. It started around a year once I weaned her. But our first pediatrician said it was normal. We moved to California and I mentioned it to our new pedi who told us to start taking her sugars and if they were low, check ketones as well. We did this and found out she frequently dropped into the 30/40s. We took her in for critical labs when she dropped to 34 one morning and her ketones were 3.9.
We’ve seen an endo and metabolic geneticist but unfortunately our insurance makes it near impossible to get things done in a timely manner. It took 8 months and a hospitalization to get our dexcom approved and we are still waiting 6 months now for them to approve the genetic testing to check for suspected GSD Type 0. Our endocrinologist suspects GSD and wants to refer us to a GSD doc. But our geneticist wants to wait for genetics to be run.
We started treating her with cornstarch every night before bed and that has been successful in keeping her from dropping critical most nights. She spends most of her day and night in the 60/low 70 range. And jumps to 200+ with sweets followed by a fairly immediate crash to the 50s.
We have pretty much given up on getting an official diagnosis for why she has KH and we’re just treating the lows
Thankful for the Dexcom so we rarely have critical lows anymore.

Katy Pryce, mother to Amelia

 Theodore

“Our Journey with KH started when my autistic at the time 3 year old woke up lethargic.. Refusing to eat or do anything and he looked very pale. We dont mess around when it comes to him because he doesn’t react to things normally so if he is showing signs that something is wrong.. Something is really wrong.. I took him to the nearest children’s hospital and told them what was going on right as we walked in. They immediately did a finger stick and his blood sugars were at 46. No waiting, they rushed him straight back, started him on an IV drip to get his levels back up”

  • Location: United States
  • Diagnosis: Ketotic hypoglycemia
     

Our Journey with KH started when my autistic at the time 3 year old woke up lethargic.. Refusing to eat or do anything and he looked very pale. We dont mess around when it comes to him because he doesn’t react to things normally so if he is showing signs that something is wrong.. Something is really wrong.. I took him to the nearest children’s hospital and told them what was going on right as we walked in. They immediately did a finger stick and his blood sugars were at 46. No waiting, they rushed him straight back, started him on an IV drip to get his levels back up. Our Journey with KH started when my autistic at the time 3 year old woke up lethargic.. Refusing to eat or do anything and he looked very pale. We dont mess around when it comes to him because he doesn’t react to things normally so if he is showing signs that something is wrong.. Something is really wrong.. I took him to the nearest children’s hospital and told them what was going on right as we walked in. They immediately did a finger stick and his blood sugars were at 46. No waiting, they rushed him straight back, started him on an IV drip to get his levels back up. 

Shawna Adler-Dorner, mom to Theodore

Braeden

“Every test they ran through the years came back negative. They did test at one time for GSD but it was the wrong type and not sure why they didn’t look more into the other types. We went through a lot over the years of him getting really low readings and throwing up. Had too many hospital visits to count during that time. Finally someone joined our medical team that had knowledge about GSD and when she went over my sons file she said she believed he had GSD and was between 9a and another one and wanted to test him for it” 
 
  • Location: BC Canada, Vancouver Island
  • Diagnosis: GSD 9a
 

This is my 11 year old son Braeden who was just diagnosed this past July with GSD 9a. We live in BC Canada on Vancouver Island. Our story began when he was just over a year old and had a seziure. One of the scariest things I’ve gone through. At first they didn’t know what caused the seizure until a few days later when we ended up in emergency again. This time he didn’t have a seizure but he was very lethargic and unresponsive. Someone happened to check his blood sugar levels and found out they were extremely low. From there we went and stayed at our local children’s hospital for a week for them to do tests. Every test they ran through the years came back negative. They did test at one time for GSD but it was the wrong type and not sure why they didn’t look more into the other types. We went through a lot over the years of him getting really low readings and throwing up. Had too many hospital visits to count during that time. Finally someone joined our medical team that had knowledge about GSD and when she went over my sons file she said she believed he had GSD and was between 9a and another one and wanted to test him for it. That is how we finally got answers for him. It’s been a very hard adjustment for him but he’s taking the changes better then I expected. Seeing that he had to give up so many foods he loved and now having to eat so often. I am truly proud of how he has handled all of this

Kasey Armstrong, mom to Braeden

 

 Vanessa

“I’m a 43 year old diagnosed KH years ago. As a baby in the 1970’s I would have corn syrup added to my bottles and fed non-stop as a growing toddler. My protruding belly was always a topic of conversation, but never concerning to anyone. I could manage mostly fine until puberty, then passing out became normal. Doctor after doctor, decade after decade I was told my body was waiting to become diabetic, that high ketones are normal, I needed more calories, or more sugar, was told to stop starving myself, told I was anorexic (but eating 3000+ calories a day to maintain bs), and other wild theories” 
 
  • Location: Casablanca, Morocco
  • Diagnosis: Ketotic hypopglycemia
 

I’m a 43 year old diagnosed KH years ago. As a baby in the 1970’s I would have corn syrup added to my bottles and fed non-stop as a growing toddler. My protruding belly was always a topic of conversation, but never concerning to anyone. I could manage mostly fine until puberty, then passing out became normal. Doctor after doctor, decade after decade I was told my body was waiting to become diabetic, that high ketones are normal, I needed more calories, or more sugar, was told to stop starving myself, told I was anorexic (but eating 3000+ calories a day to maintain bs), and other wild theories. I received very poor dietary advice in those years, but instinctively followed a low carb diet, limited sugar (before I knew better than to have any sugar) and good protein (before I really understood what high protein meant). This year I was retested for an Insulinoma, which again proved negative. That’s when I found an incredible NET specialist who combed over all my labs and said “you have an enzyme issue, I can see the problem, it has to do with glucagon/glycogen and you need to see genetics asap.” I met with genetics who found I’m only a carrier of 9b, but now I’m finally being treated with CS and protein and feel so much better. My CT scans show a “very affected liver” with multiple lesions from years of untreated metabolic unrest.

Vanessa, living with ketotic hypoglycemia

William

“William were diagnosed with ketotic hypoglycemia 2 yrs ago. We have had genetic testing for GSD but all have come back normal but the doctors are treating him as a GSD patient. We are hospital at least once every couple of months due to ketoacidosis. … He also has epilepsy and autism. As of the 5th of December, we are getting a g-tube to help with extreme lows and bolus feeds at night. He has started to refuse anything by mouth. Like all parents I would like some true answers. Prayers for anyone who deals with this”.

  • Location: United States
  • Diasnosis: Ketotic hypoglycmia
     

William were diagnosed with ketotic hypoglycemia 2 yrs ago. We have had genetic testing for GSD but all have come back normal but the doctors are treating him as a GSD patient. We are hospital at least once every couple of months due to ketoacidosis. … He also has epilepsy and autism. As of the 5th of December, we are getting a g-tube to help with extreme lows and bolus feeds at night. He has started to refuse anything by mouth. Like all parents I would like some true answers. Prayers for anyone who deals with this.


Barbare Cooper, mother to William

 Lucian

“This is my youngest son Lucian he is 2 will be 3 in February. He was diagnosed KH after a week long stay in the hospital following an illness this past February. Although since then we have realized he has battled this for much longer. We are from the Baltimore MD area. We are working on getting a better diagnosis and team to help us manage this. He also was been diagnosed with hydronephrosis in utero and is nonverbal Autistic with a feeding disorder”

  • Location: United States
  • Diagnosis: Ketotic hypoglycemia 

This is my youngest son Lucian he is 2 will be 3 in February. He was diagnosed KH after a week long stay in the hospital following an illness this past February. Although since then we have realized he has battled this for much longer. We are from the Baltimore MD area. We are working on getting a better diagnosis and team to help us manage this. He also was been diagnosed with hydronephrosis in utero and is nonverbal Autistic with a feeding disorder. I feel like we have been pretty lucky since we have come across these Facebook groups and been able to gain the knowledge needed and support team to manage it all especially where his medical team has failed.

Kirsten Bradley, mom to Lucian

 Sienn​a

“Then at 11 months old she displayed the same symptoms again – floppy, not feeding, not passing urine. We took her to hospital and they put her on a drip to get fluids into her and then discharged her. We took her home, put her to bed but then we could not wake her. We rushed her back into hospital and by this time her toes, fingers and mouth were turning a blue/purple colour, they did a blood gas test and admitted her straight away when her BS level was only 1.8”

  • Location: United Kingdom
  • Diagnosis: Ketotic hypopglycemia

Sienna first showed symptoms at 7 weeks old when she stopped feeding, wasn’t producing wet nappies & was quite floppy. At that time the GP sent her into hospital. The hospital did not run any tests but wrongly diagnosed her with oral thrush even though there was no sign! We were discharged and I went straight back to our GP who was amazing and spent over an hour with us trying to get her to take some of my milk. The following day she finally started to feed again and gradually got back to herself. 

Then at 11 months old she displayed the same symptoms again – floppy, not feeding, not passing urine. We took her to hospital and they put her on a drip to get fluids into her and then discharged her. We took her home, put her to bed but then we could not wake her. We rushed her back into hospital and by this time her toes, fingers and mouth were turning a blue/purple colour, they did a blood gas test and admitted her straight away when her BS level was only 1.8. They tried to make her feed but she started projectile vomittimg so they put a NG tube down and she was in hospital for 6 days before being told she had a virus and was then discharged. 

Unfortunately 4 months after this admission she displayed all of the symptoms again! From seemingly being 100% well to lethargic, floppy, vomittimg, no urine, refusal of food, blue tinge to fingers. This time we saw a different doctor in the hospital who was brilliant and started running tests straight away. This time we wasn’t just brushed off with a virus etc, I was actually listened to and from the information I gave and clinical examination of Sienna, this consultant actually suspected KH. As soon as blood tests started coming back out of normal ranges she wasted no time in referring Sienna to Great Ormand Street hospital. 

Sienna ended up under the care of the Endocrine team and Metabolic team. She had many tests including an 18 hour fast and after a couple of years of admissions, tests, appointments, she was officially diagnosed with KH at age 3. Sienna also has sleep apnea, a collapsible windpipe which was found during an endoscopy at GOSH and she needed to have her adenoids removed for her breathing issues and constantly needing pumps and steroids. She also has gastro issues such as lots of blood in her stools and tummy pains. This was investigated by Addenbrookes and after having another general anesthetic for endoscopies and biopsies, she was found to have a milk protein allergy which was causing an allergic response in her bowel. 

Sienna is also under a dietician for her height and weight as she struggles to put weight on. She has dropped from the 52nd growth centile down to the 8th. Sienna on the whole is well and fit. She joins in with a range of activities including gymnastics and has now started school too. We are based in the UK and now have a detailed emergency regimen to follow along with open access to our local children’s ward. We are very grateful that we ended up with a great consultant who finally listened to what was happening and then going on to receive great care at both Great Ormand Street Hospital and Addenbrookes. Parents really do know their children best and I wish we had been listened to sooner by healthcare professionals but she has ended up with a very good team around her. I’m not sure how closely linked all of her health issues are, we have been told that they’re not linked but we do find that when she’s had a KH episode, the rest of her health issues are affected too

Jo Fitch, mother to Sienna