The following has been shared by Anna Nicolaou:
Within the medical world, there’s positive progress being made on a daily basis for a variety of things such as research and new forms of medicine. However, when it comes to correct diagnosis and transition from a pediatric health care team to an adult health care team, the story is much more complicated.
Twenty-seven years ago, my life was forever transformed by congenital hyperinsulinism. I was born in the beautiful island of Cyprus, where, at 6 months old, I started displaying symptoms such as seizures, which led to a misdiagnosis of epilepsy. Unfortunately, the health care professionals at the time hadn’t met anyone with my case before, so they mistook my symptoms and insisted that their diagnosis was correct even when my parents kept insisting that they had made a mistake. They never acknowledged or recognized the error in their judgment.
As my mum had grown up in London, UK, my parents therefore decided to reach out to a children’s hospital in London known as Great Ormond Street Hospital (GOSH) and get me an appointment to figure out what I could possibly have. After a lot of effort and time, they managed to get me an appointment at GOSH, where the lead specialist at the time, Sir Al Ainsley Green, diagnosed me with diffuse congenital hyperinsulinism (HI) at 3 years old. From there on, my journey with this rare condition officially began.
Receiving the diagnosis was life-changing, as it provided us with a name and a definition of what I was experiencing. It also meant that we could try medication and adopt a new lifestyle that would aim at reducing my hyperinsulinism-induced symptoms. I was given diazoxide twice a day. I’ve been incredibly fortunate that my dose has always been less than what they start a baby on, and that I haven’t experienced any negative side effects of the medication.
As a child, I received wonderful patient-centered care under the care of Dr Khalid Hussain at GOSH. As I am the only case with HI in Cyprus and there is no HI specialist on the island, I stayed under GOSH’s care and had a hospital stay every other year to see how I was doing. The endocrine doctor in Cyprus was in communication with the HI Team at GOSH to ensure that the care plan they had created for me was being followed. GOSH is now one of the Centers of Excellence (COE) (established in 2018) for congenital hyperinsulinism care, and all the healthcare providers I interacted with had a very high informative and caring understanding of HI. I will forever be eternally grateful to everyone at GOSH who helped me navigate and understand my journey with this rare condition.
In the UK, it is customary to start seeing an adult doctor at the age of eighteen. However, I didn’t see a specialized HI physician until I was twenty-three. Following my exit from GOSH at eighteen, I was supposed to transition to another hospital’s adult services department. Unfortunately, I was lost in the referral system for five whole years being referred from doctor to doctor, and at that time, I didn’t have an HI expert to rely on. It almost felt like walking through a labyrinth due to the lack of clarity and direction that was available. I was left to create my own map in order to navigate through the many unknowns hidden within the referral system and hospitals’ adult health care services.
You see, although I had my general endocrine doctor in Cyprus who would help me with getting my medication, they were not able to assist me with any of the questions or concerns that come with being a rare condition patient. This made my transition a difficult and rather isolating experience, as I had to fight through the referral system and through minimal support to find a specialized HI adult health care team that were able and willing to take me on.
My experience within the adult healthcare system was and continues to be a constant fight between what the system should be doing vs what it actually does do. There are still far too many gaps in the care I receive for me to feel seen, heard, and acknowledged. Instead, I feel isolated and struggle to trust medical professionals on a daily basis. Some of the gaps I experience as an adult patient with a rare condition include: Infrequent consultations, lack of regular check-ins, no resources or guidance materials, no direction to patient support groups, limited research and clinical trial access, fragmented records and communication, financial and logistical barriers, lack of emergency protocols and lack of mental health support. In an ideal world, all the gaps mentioned above would be available and provided regularly to adult patients with HI.
This is why I support and stand by the HI Global Registry (HIGR); our stories are powerful, and they need to become the catalyst that will transform adult hyperinsulinism health care into a system that supports and acknowledges its patients. HIGR is the only patient-powered registry for hyperinsulinism research, but the majority of participants are children with HI. By collecting the experiences of adults with HI in HIGR, researchers have a rare opportunity to learn from the unique challenges that adults living with HI face, emphasizing that it is not just a pediatric condition and that specialists trained in the condition are needed for adults, too. There is a need for doctors to train and become specialists for adult patients as we are not seen as much of a high priority as child patients.
Only by working together can we bring change. As they say, “Rome wasn’t built in a day,” and I know we still have a long way to go. I want to use my story to change the narrative; to change the way the system operates, but I cannot achieve my goal alone. I need your help. Wherever you are whilst reading this, I want you to remember that you’re not alone and that your story matters more than you can possibly imagine.
I’ve learned to dream big in my life because my condition didn’t stop me from achieving any of my dreams. It just made me go through a different journey to arrive at my destination. I don’t know what the destination will look like, but I’m hopeful it will be worth the journey.
