Rare Disease Day, marked each year on the last day of February, shines a light on the millions of people around the world living with rare conditions. The day raises awareness of the challenges patients and families face while celebrating their incredible strength and resilience. A disease is considered “rare” when it affects a small percentage of the population, but collectively, rare diseases impact millions of people around the world. The day is a chance to amplify the voices behind the rare disease and their journeys, to increase awareness and understanding and encourage research for better treatment options.
9-year-old Toby lives in Warrington with his parents, Mike and Gemma, and his siblings Mia and Jacob.
Toby has a condition called Addison’s disease. Addison’s disease is a rare, lifelong condition where the adrenal glands don’t produce enough key hormones like cortisol and aldosterone, which help control energy, blood pressure and the body’s response to stress. Without treatment, it can cause severe fatigue and low blood pressure, and in serious cases, lead to a life-threatening adrenal crisis, so it requires daily hormone replacement therapy.
In the UK, about 8,000-10,000 people are estimated to have Addison’s disease, and roughly 300-350 new cases are diagnosed each year, which makes it extremely rare, affecting around 1 in every 10,000 people.
Toby’s parents Mike and Gemma, tell us more about Toby’s journey:
- What were Toby’s symptoms?
Since about the age of three, we noticed characteristics about Toby, like a preference for savoury food and skin that tanned easily, which, at the time, we didn’t attribute to a medical cause. However, from January 2024, when Toby was seven, we noted more significant changes in him. His mood became low, he had an aversion to cold weather and wind, his salty food cravings intensified, and his physical stamina and endurance markedly reduced. By March 2024, we also became aware he was having significant difficulties in school; he had behavioural and communication changes, as well as academic difficulties – he was struggling to follow lessons and retain information, and his handwriting became illegible. His symptoms were so wide and varied, we didn’t know what could be causing the problems, but we began looking for answers. Because of Toby’s food cravings, we went to the GP to query diabetes, but his blood tests all came back clear (cortisol is not routinely tested for). We also had his sight and hearing checked to see if they were causing issues in school, but once again, they came back fine. As parents, we knew there was something ‘wrong’, but we were stumped about the cause.
- How was he diagnosed?
In August 2024, we went on holiday with a group of friends. A few of the group picked up a sickness bug and, on our return from holiday, Toby still wasn’t well. He was into the 3rd / 4th day of intermittent vomiting; he was struggling to keep any food or drink down and complained of his body feeling like ‘jelly’. We decided to call 111 and took him to his Warrington A & E. Initially, they investigated appendicitis, but routine blood tests discovered his sodium levels were depleted; in fact, they were the lowest the consultants at Warrington and Alder Hey had ever seen. Thankfully, the Dr quickly identified that Toby was in an adrenal crisis and within an hour, we were transferred to High Dependency Unit at Alder Hey where the on-call Endocrinologist led his care. Toby’s treatment began immediately but we were told to prepare for a harrowing few days whilst his sodium was slowly raised to a safe level. It was a terrifying time whilst tests were conducted to find out the cause of Toby’s adrenal insufficiency; either Adrenoleukodystrophy (ALD), or Addison’s Disease. A few months later a full diagnosis of Primary Adrenal Insufficiency (Addison’s Disease) was given. For Toby, Addison’s is a rare auto-immune disease that means he cannot produce the steroids cortisol and aldosterone, which have many vital functions within the body. The diagnosis explained the widespread difficulties and symptoms he was experiencing.
- How have diagnosis and treatment improved his symptoms?
Toby is now steroid dependent for life and sudden illness or injury could cause a dangerous adrenal crisis, so we are always prepared with an emergency kit. As parents, we were in shock and incredibly scared to begin with; it took us a year to get used to daily medication, sick day rules and emergency situations – and we are still learning and growing in confidence. However, it has also been a relief to have an explanation and treatment for all his symptoms.
18 months after his adrenal crisis, Toby is a different child. He moved to a new school immediately after diagnosis, and they have supported us and Toby as we’ve navigated his condition and daily life. His new headteacher aptly described Toby as a ‘phoenix rising from the ashes’. The difficulties he was having before diagnosis have been corrected. He loves school where he has strong friendships and enjoys maths, history, sport and art. His energy levels are stable, and he leads a full and active life with few limitations (for the most part it is an invisible disease). He still loves salty food, like sushi, soy sauce and savoury snacks, but these are now more of a preference than a necessity.
- How is he doing today and what’s his favourite thing to do e.g. sport etc?
Before diagnosis, Toby struggled to reach the finish line at Sports Day, but now, taking medication has allowed his natural talent for sport to shine through; he regularly plays tennis, swims and does Jiu-Jitsu. One of his favourite hobbies is attending Cubs, where he loves the fun, varied activities with friends as well as outdoor / camping experiences. Toby says; “I love sport and want to be a basketball player when I’m older.”
Alongside his vital steroid replacements, we help to manage Toby’s condition by keeping him healthy; eating well, keeping hydrated and resting when needed. We are also conscious of managing his emotional stress levels through lots of love and support, along with strong, healthy relationships.
- How has the care been at Alder Hey?
Toby’s adrenal crisis in 2024 was traumatic for us as parents, but Toby was mostly shielded from the severity of the situation. He commented at the time that he felt ‘cared for’ when he was in hospital and he is always happy to return to Alder Hey for his routine appointments, where he loves the food, staff and environment. The wise advice we received from Dr Das, Dr Senniappan and Alder Hey staff was a great comfort and their words have stayed with us. It is reassuring to know that we are just a short drive away from Alder Hey’s A&E and an email away from specialist endocrine advice, if needed.
- What does Rare Disease Day mean to you?
As parents, we don’t want Addison’s Disease to define Toby or limit his choices; however, it is a chronic condition he will have to live with and manage for the rest of his life. This Rare Disease Day, we want to raise awareness of Addison’s and Adrenal Insufficiency and its varied symptoms, as it may help another person find the correct diagnosis and, ultimately, save someone’s life. We want to use this opportunity to highlight the vital importance of schools and professionals raising and sharing concerns about children in their care. There may be many reasons for changes in a child’s presentation, medical and otherwise, but without swift and open communication between parents, carers, schools, GPs and other professionals, vital information can be missed, and diagnosis (for many conditions) can become harder.