A collaboration between experts and a Danish-based, global reaching patient organization has resulted in a groundbreaking medical publication, where guidelines are being presented on how to manage patients with unexplained low blood sugar.
Danielle Drachmann, founder of Ketotic Hypoglycemia International (KHI), spent years being dismissed by doctors due to the outdated perception that her children's dangerous low blood glucose (sugar) and high ketone levels were a normal variation.
Professor Henrik Christesen, Head of the Complex Hypoglycemia Center, Odense University Hospital, Denmark, could not identify the cause of the condition despite intense efforts, but recognized the severity of the children's condition and implemented strict monitoring and management guidelines to support the family.
Closing the gap: Uniting the patients and the experts
Henrik and Danielle shared frustrations due to the lack of knowledge of severe, unexplained ("idiopathic") ketotic hypoglycemia across the wider medical field.
This led Danielle to establish Ketotic Hypoglycemia International with Professor Christesen leading the Scientific Advisory Board.
The patient organization gathered leading experts from the fields of endocrinology and inborn errors of metabolism, uniting them with patient representatives from across the globe. The result is a shared publication in the international medical journal Orphanet Journal of Rare Diseases.
Low blood sugar in children is not just normal
For the first time since the term idiopathic ketotic hypoglycemia was coined in 1964, the the condition is now being divided in two, a physiological and a pathological (severe) form.
The key message is that pathological ketotic hypoglycemia of unknown cause is more than normal variation in small children. Pathological ketotic hypoglycemia should be diagnosed and treated as any other disease, according to the authors.
"The problem is that an old perception of ketotic hypoglycemia just being a normal variation of childhood has kept children from getting the medical investigations and help they need. The medical textbooks must be rewritten" Professor Christesen states.
Parents and experts are excited
With this paper, the severity-range of the condition has been recognized and family members are labeling the news of the upcoming paper as life changing;
"Multiple seizures and ER visits, and we are still being told that this is normal for children. The news of the paper gives me hope that Ketotic Hypoglycemia International has started a revolution. Hope for my child's future and hope that our voices are finally going to be heard," proclaims Victoria, a KHI group member from the United States.
Hypoglycemia expert Dr. David Weinstein, the former director of the Glycogen Storage Disease Program in the US and co-author of the paper, states;
"These children deserve to get answers and they deserve proper treatment. My one regret is that I never was able to get the medical field to take ketotic hypoglycemia seriously."
Be a part of the revolution
Ketotic hypoglycemia is placed somewhere between the two expert fields, pediatric endocrinology and inborn metabolic diseases, as a real orphan disease. The new patient organization has succeeded in bringing experts from the two different medical fields together in this publication.
On top of giving guidelines for diagnosis and treatment, the new patient organization, Ketotic Hypoglycemia International, is presented in the paper.
The organization urges all medical professionals to increase their knowledge and improve their clinical practice by reading this crucial publication about ketotic hypoglycemia,
The organization aims to help this misunderstood patient-group gain access to critical medical supplies, referrals to specialist providers and finally receive the professional validation that their symptoms warrant a full investigation.
"It's been a fantastic journey from feeling alone with two untreated children to become recognized together with hundreds of other families as having a real disease that deserves treatment", first author Danielle Drachmann says.
Facts about ketotic hypoglycemia
In ketotic hypoglycemia, the glucose metabolism works poorly, which is why the body switches to fat burning more quickly. The poor glucose metabolism results in low blood sugar (hypoglycemia) and the increased fat metabolism results in ketone bodies such as acetone. A patient can therefore directly smell of acetone if he or she has an attack of ketotic hypoglycemia. Both sugar and fat burning are enzymatic processes controlled by a number of hormones. In order to have unexplained (idiopathic) ketotic hypoglycemia, a number of enzyme defects in cell metabolism and a number of hormonal diseases must be ruled out. However, an explanation can be found in some of the patients if the cases are being investigated thoroughly, including major genetic analysis packages.
Over the past ten years, Henrik Christesen has met about 100 children with ketotic hypoglycemia and 15 parents who also had the condition in adulthood. Based on the new research, he estimates that 150 new children and adults annually need medical investigation due to hypoglycemia in Denmark alone.
For more information on ketotic hypoglycemia, see educational materials for both healthcare professionals and families on Ketotic Hypoglycemia International's YouTube channel: https://m.youtube.com/channel/UCOKK0J3HarsfX_MdFN6vC3w
The Patient Organization can be found here: http://ketotichypoglycemia.org
Read the scientific article "Towards enhanced understanding of idiopathic ketotic hypoglycemia: A literature review and introduction to the patient organization, Ketotic Hypoglycemia International" here: Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International | Orphanet Journal of Rare Diseases | Full Text (biomedcentral.com)
Orphanet Journal of Rare Diseases