Watching your child become seriously ill without knowing why is every parent's worst nightmare. After years of searching for answers following her son's diagnosis of idiopathic ketotic hypoglycemia, Danielle Drachmann transformed that experience into a career in rare disease advocacy. Here, she shares her family's journey and explains why earlier diagnosis, specialist expertise, and collaboration are essential for improving patient care.
Can you tell us about your family's rare disease journey, and what first led to your children's diagnosis?
Our rare disease journey began with my son, Noah, who was born with severe prolonged neonatal hypoglycemia, with blood glucose levels dropping as low as 0.8 mmol/L. Although the immediate medical emergency was managed, the underlying cause remained unknown. And as Noah grew older, we continued to notice symptoms that suggested an underlying disorder.
When Noah was 18 months old, he experienced hypoglycemic seizures and was referred to Dr Henrik Thybo Christesen, Head of the Complex Hypoglycemia Center at Odense University Hospital in Denmark. Over the following 18 months, he underwent an extensive diagnostic workup, including metabolic investigations, clinical testing, and trio whole-exome sequencing, to rule out known causes of ketotic hypoglycemia. When no underlying explanation could be identified, he was diagnosed with idiopathic ketotic hypoglycemia – a diagnosis indicating that the cause of his condition was unknown.
By the time Noah was three years old, his younger sister, Savannah, was 16 months old. During a follow-up visit, Dr Christesen became concerned by her rapid growth, constant hunger, and frequent nursing. He asked me to stop her nighttime breastfeeding and measure her glucose and ketone levels the following morning.
The results were alarming. Savannah was admitted to hospital that same day and transferred to the Complex Hypoglycemia Center, where investigations confirmed she had the same condition as her brother. Because of the severity of her symptoms, she required placement of a gastrostomy tube to safely manage her hypoglycemia.
Looking back, our experience highlighted how critical specialist expertise and advanced diagnostics are in rare disease care. Noah's diagnosis took years of investigations before known causes could be excluded, whereas Savannah was diagnosed much more quickly because her specialist immediately recognized the same clinical pattern.
I'd also like to take this opportunity to thank Dr Christensen, for his continued care and support over the years.
When your children were diagnosed, what led to further testing across your family, and what did those results reveal?
Although Noah and Savannah were diagnosed with idiopathic ketotic hypoglycemia, the diagnosis explained only the symptoms they had – not the underlying disease causing their symptoms. Extensive metabolic and genetic testing had excluded all known causes, leaving the underlying mechanism unresolved.
After Savannah's diagnosis, Dr Christesen looked more closely at our wider family. My own diagnosis of ADHD was reconsidered, and further evaluation revealed that many of the symptoms previously attributed to ADHD were actually manifestations of previously undetected severe ketotic hypoglycemia.
For our family, this was a powerful reminder that receiving a diagnosis often marks the beginning of further discovery rather than the end of the journey. Progress depends on continued collaboration among families, clinicians, geneticists, and researchers.
Looking back on your family's diagnostic odyssey, what were the biggest challenges, and what lessons do you think clinicians and laboratory professionals can take from that experience?
One of the greatest challenges was reaching the right expertise. Many rare disease families spend years moving between healthcare providers before being referred to a specialist who recognizes their condition.
The biggest lesson is to remain curious when symptoms do not fit established patterns. Patients and caregivers often notice important clinical clues long before they are formally recognized. Clinicians, pathologists, and laboratory professionals play a vital role in connecting those clues with laboratory findings to help families reach answers sooner.
How did your experience as a parent evolve into a career in rare disease advocacy?
I was searching for answers for my children and quickly realized that many other families were facing the same challenges.
What began as a search for information evolved into the creation of Ketotic Hypoglycemia International, bringing together families, clinicians, and researchers to raise awareness, support research, and build scientific collaborations around a condition that had long been overlooked.
That work ultimately led me into broader patient advocacy and engagement across both the rare disease community and the life sciences industry, where I help bridge the gap between lived experience and research.
You have been heavily involved with the patient organization alliance, EURORDIS. What are your main areas of focus, and how are you working to improve outcomes for rare disease patients and families?
My work focuses on shortening the diagnostic journey while advancing research, policy, and patient engagement.
I am particularly passionate about strengthening partnerships among patients, researchers, clinicians, industry, and policymakers. When patients are treated as equal partners, research becomes more relevant, healthcare more responsive, and outcomes improve.
What do you see as the biggest barriers to timely and accurate diagnosis for people living with rare diseases today?
Several factors continue to delay rare disease diagnosis.
First, newborn screening and other screening programs are not implemented consistently across countries and healthcare systems, limiting opportunities for early detection.
Second, advances in research do not always translate quickly into clinical practice. As a result, frontline healthcare professionals may be unaware of emerging evidence, delaying recognition of rare disease presentations.
Finally, many patients experience delays in referral to specialist centers with the expertise and diagnostic resources needed to identify rare conditions. Improving access to these centers remains critical to shortening the diagnostic journey and enabling earlier intervention.
What can pathologists and diagnostic laboratories do to help reduce delays in rare disease diagnosis?
Pathologists and diagnostic laboratories play a central role in improving rare disease diagnosis. Fast turnaround times and triage systems can help prioritize urgent cases, particularly for patients with severe or progressive conditions.
Laboratories should continue expanding access to genomic technologies, including whole-exome sequencing, while automation – particularly in bioinformatics – can improve efficiency and consistency.
Close collaboration between diagnostic laboratories and specialist referral centers is equally important, as rare disease diagnosis often depends on integrating laboratory findings with expert clinical assessment.
Looking ahead, what are your goals as an advocate, and what progress would you most like to see in rare disease diagnosis and care over the next decade?
My goal is simple: fewer families should have to endure years of uncertainty before receiving a diagnosis.
Over the next decade, I hope to see shorter diagnostic journeys, broader access to genomic technologies, stronger international collaboration, and greater integration of patient perspectives into healthcare and research. Diagnosis should mark the beginning of coordinated care, support, and research opportunities – not the end of the journey.
Although individual rare diseases are uncommon, together they affect hundreds of millions of people worldwide. Behind every diagnosis is a person and a family searching for answers. Advances in diagnostics are transforming what is possible, but lasting progress depends on combining scientific expertise, clinical expertise, and lived experience.
Patients and families are more than recipients of care – they are essential partners in research and discovery. By working together across disciplines, we can deliver earlier diagnoses, better care, and improved outcomes for people living with rare diseases.
Newsletters
Receive the latest pathologist news, personalities, education, and career development – weekly to your inbox.
