Anton

(align:"===><==")[(text-colour:blue)[''ANTON'S STORY'']] (align:"===><==")[''A diagnostic journey ''] (align:"===><==")[Your task is to solve the diagnosis. If you do not solve the diagnosis, go back to the beginning and start again. ] (align:"===><==") [[BEGIN]]

(align:"=><=")[''ANTON'S STORY''] First Anton had a sore throat, and then he lost his voice. Two days into his illness, he and his mother, Yulya, come to see you. Anton is 14, and looks miserable. He waves at his throat, his mother, and puts his head in his hands. Yulya says, he’s had three sore throats this year. He’s allergic to nuts, maybe he had some nuts at school by mistake. [[You examine Anton]]

He has a temperature of 37.6 degrees, BP 90/60. PR 78 sinus rhythm, RR 11, no rash. He has an inflamed, reddened pharynx, with enlarged tonsils. He has four enlarged tender submandibular lymph nodes. He is tender on pressing the frontal and maxillary sinuses. His respiratory and cardiac examinations are normal. You diagnose him with tonsillitis and frontomaxillary sinusitis. [[The treatment is surgical. He needs his tonsils removed.]] [[The treatment is supportive. He needs pain relief and rest.]] [[The treatment is medical. He needs antibiotics.]]

His symptoms resolve over the next two weeks. [[Three months later, Anton comes to see you.]] .

He is now on a six month waiting list to see the otolaryngologist in the nearerst regional town, 150 km away. His symptoms resolve over the next two weeks. [[Three months later, Anton comes to see you.]]

You are aware that the Australian therapeutic guidelines would advise you to not to use antibiotics for sinusitis and tonsillitis. You discuss this with Anton and Yulya, and recommend supportive treatment. His symptoms resolve over the next two weeks. [[Three months later, Anton comes to see you.]]

He tells you that he is always tired, and has fainted on multiple occasions, including at school which is really embarrassing for him. He also says that his parents are going to divorce. Life has been stressful on their dairy farm, and they are thinking of selling. [[You examine Anton, and organise some blood tests.]]

Anton has been going through a growth spurt and is 178 cm tall, and has a BMI of 14. He is afebrile, BP 90/60 with no postural drop, PR 68 sinus arrhythmia, RR 15. On examination his throat is clear. His lungs are clear. He has the following test results: UEC, TSH, LFTs all normal. FBC: Hb 138, normal red cell indices. Total white cell count 4.1 x 109/L (within normal range). Neutrophils within normal range. Lymphocytes 1.0 x 109/L – ie a bit low. [[This sounds like a possible arrhythmia.]] [[This sounds like a psychosomatic problem.]]

You refer him to a to a paediatrician in the nearest city, 150 km away. The pediatrician conducts a telehealth interview, and diagnoses simple vasovagal syncope. He advises Anton to stay active and eat a balanced diet, and that his fainting should resolve spontaneously. [[Three years later, Anton, aged 17, comes to see you.]]

You suggest telehealth counselling and refer him to some youth mental health websites. Anton appears dubious about either of these routes. He doesn't want you to discuss this with his parents. He tells you he will read the youth mental health sites and think about counselling. You later hear he and Yulya have decided to see another doctor in the practice. [[Maybe you missed something ->BEGIN]]

He needs a medical certificate as he has missed two weeks of school. Anton looks tired and frustrated. His parents are divorced, have sold the farm, and Anton rotates between them weekly. They live in neighbouring towns. He feels bad for both of them. He is in his final year of the local high school, not enjoying it, and counting the days till he can move to a bigger city. His frequent fainting has caused him to stop working at his part time job in the post office. Even with his tonsils removed, he continues to get sore throats and sinus infections. [[You examine Anton.]]

Anton looks stressed and tired. Temperature 37.8, BP 10/80 with a postural drop to 95/72, PR 78 sinus arrhythima, RR 18. On examination, normal cardiac and respiratory examination.. He is tender over both maxillary sinuses. His left eardrum is reddened and has a dull light reflex. [[You decide to focus on the recurrent fainting.]] [[You decide to focus on the recurrent sinusitis.]]

Six weeks later, Anton returns with Yulya, after seeing the cardiology technician who visits a nearby town. He conducted a stress test and an echocardiogram neither of which revealed abnormalities. The cardiologist in the major regional centre 150 km away reviewed these results by distance and affirmed the diagnosis of simple vasovagal syncope. [[Yulya tells you what her natural therapist has advised.]]

On closer history, Anton has sinusitis four or five times a year, and ear infections at least as often. When things are bad he goes to the hospital emergency department, where he may receive antibiotics, or he just waits it out at home, or he sees his mother's natural therapist. He tells you that he also has loose bowel motions for the last year which he finds profoundly embarrassing. [[You wonder about all these infections.]]

Yulya tells you that Anton had several bouts of pneumonia and whooping cough before the age of ten. She had made sure that he had all his vaccinations, and "instead of helping him, he got all the infections anyway." She also tells you that one of the reasons Anton is so thin is because he has recurrent loose bowel motions. Anton looks mortified. [[You wonder about all these infections.]]

Yulya is surprised that you are not more open-minded. She and Anton draw away from Western scientific medicine for a few years. Anton's diagnosis is delayed for several years as a result. [[Let's review this case again ->BEGIN]]

Yulya's therapist advises that Anton should stop all dairy products, to help settle his loose bowel motions. Yulya says she blames vaccines for her son's illness. They never protected him from any of the illnesses they were supposed to. She suspects that there were toxins inside the vaccines. [[It's getting late. Frankly such dietary advice is dangerous.]] [[Maybe there's something in this. You ask Yulya to tell you more.]]

You discuss Anton's case with a colleague who is an general physician who does travelling clinics in your town. She suggests you measure serum immunoglobulins. Anton has reduced levels of IgA, IgG, and IgM immunoglobulins. Your colleague arranges [[a review by an immunologist.]] In the meantime, she prescribes Anton daily co-trimoxazole as prophylaxis against infections.

Anton is diagnosed with common variable immunodeficiency. His fainting is attributed to dysautonomia. Anton returns to you 6 months later and tells you that he is feeling much better. He has not had any respiratory tract infections since he commenced regular immunoglobulin therapy. <iframe width="670" height="377" src="https://www.youtube.com/embed/KYby-wkw_Sg" title="Diagnosing Primary Immunodeficiencies" frameborder="0" allow="accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share" allowfullscreen></iframe> Anton has not been able to finish school this year due to recurrent illnesses. [[You reflect together on whether the diagnosis could have been made earlier.]]

Anton had recurrent respiratory tract infections which were often treated as intercurrent infections, rather than part of a whole. Like many people with undiagnosed primary immune deficiency, he sought medical help from multiple providers - whoever was available when he became acutely ill. This meant that the frequency of his infections was underestimated by his clinicians. Other pieces of the puzzler were: * his recurrent diarrhoea may also reflect primary immune deficiency * the history of recurrent cases of vaccine-preventable disease despite being fully immunised. Anton wonders if being a kid in a rural town "miles from anywhere" could have contributed to the delay in his diagnosis. [[What happened next?]]

Three years later, Anton has responded well to immunoglobulin treatment. He is now studying in a major capital city. He is surprised to find that he is thinking of taking up dairy farming. . (link:"Read more about Primary Immunodeficiencies.")[(gotoURL:"https://www.idfa.org.au/")] [[CREDITS]]

''(text-colour:blue)[This game was developed by (text-colour:white)[The Australian National University]] ''Christine Phillips Jane Desborough Anne Parkinson Tergel Namsrai'' ''//School of Medicine and Psychology National Centre for Epidemiology and Population Health// ''(text-colour:blue)[Game development consultant]'' (link:"Ruqiyah @ ub4q")[(gotoURL:"https://ub4q.games/")] ''(text-colour:blue)[Advisers] '' Carolyn Dews, Immune Deficiencies Foundation Australia Anita Chalmers OAM, Myositis Association Australia Christine Lowe, Myositis Association Australia Elaine Kelly, Sarcoidosis Lyme Australia Dianne Gregory, Sarcoidosis Lyme Australia ''(text-colour:blue)[This project was funded by ]'' The Commonwealth of Australia represented by the Department of Health Australia as part of the Rare Diseases - Support, Education and Training, Activity grant program # 4-G60XELC This game was made with Twine 2.8.1 and Harlowe 3.3.8.