The long story of how we came to be

How families united with leading medical experts

Established in January, 2020, Ketotic Hypoglycemia International (KHI) is a new, worldwide patient organization for families affected by idiopathic ketotic hypoglycemia (IKH). Our scientific advisory board and organization board of directors are volunteers. The mission of KHI is to enhance the understanding of IKH for the benefit of children, parents, and families who have been affected by IKH. KHI aims to support patients and their families by sharing knowledge about IKH and to support the continued research into etiology, monitoring, and treatment.

Our patient group 

We define our patient target group as patients with KH without a known clinical metabolic or hormonal etiology. This is to differentiate KHI from patient organizations for GSD, growth hormone deficiency and adrenal insufficiency, even though members of these groups may also experience KH symptoms. KHI welcomes all patients who suffer from KH in our support group, where we will assist them in connecting with other disease-specific support organizations.

Which challenges are we facing?

Current literature provides a broad, unclear etiology and pathophysiology of IKH, thereby limiting the scope of understanding especially the more severely affected patients. The KHI support group has the impression that pathological KH may often be underdiagnosed and inappropriately treated. For those with pathological KH there is a lack of support for both the patients and their primary caregivers. Rare diseases often come with additional stress to the family unit, as advocacy, research, and support falls on the patient and family members. It has been shown that in the case of a rare disease diagnosis, oftentimes the parent or caregiver will have a better understanding of the disease process than the healthcare team providing care for the patient. 

Limited support 

Limited access to services and government support, fragmented communication, and minimal experts in the field result in the need for family to step in as a patient medical navigator and advocate. Advocating for a child without a diagnosis can become overwhelming to the family as social support dwindles and health care management becomes convoluted. 

The initial screening for KH is not standardized in many institutions, and when a diagnosis of IKH is made, parents have reported feelings that providers had offered minimal education and instruction on management. This results in families navigating uncharted territory with episodes of KH, hospitalizations, pushback from schools regarding symptom management and prevention plans, etc., while being explained that KH does not meet the definitions of a rare disease and therefore may not qualify for extra services.

KHI recognizes that pathological KH, as with many health conditions, is not only affecting the child, but creating daily challenges for the families and caregivers. The most significant of these challenges is the fear of hypoglycemic episodes that can lead to a range of complications and can have devastating consequences.

Source: Drachmann, D., Hoffmann, E., Carrigg, A. et al. Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International. Orphanet J Rare Dis 16, 173 (2021).