Nirmala

[align center] **NIRMALA'S STORY** \ **A diagnostic journey** \ \ Your task is to solve the diagnosis. If you do not solve the diagnosis, \ go back to the beginning \ and start again. [[BEGIN]]

[align center] **NIRMALA'S STORY** [align left] Nirmala is apologetic about taking your time. She has brought in her twin four-year-olds who both have mild eczema. At the end of the consultation, she asks you to check her lungs. \ \ It’s probably nothing, she says. I just keep running out of breath, for the last month. From the car to the child care centre, I have to take a breather. And that’s only fifty metres. I go do the shopping, I have to sit down after 15 minutes to catch my breath. But it's probably nothing. \ \ Nirmala isn’t physically distressed and has no obvious shortness of breath. [[You ask her about recent exposures to infections.]] \ [[You ask her about her respiratory symptoms.]]

Nirmala says: \ Well not to COVID, if that’s what you’re thinking. I’ve had three vaccinations and COVID last year. \ I wondered if I’d got something in Singapore. I was there not long ago for my sister Kiran’s wedding. Big family gathering. My mother came out from Mumbai for it. Spent the whole time telling us all how tired we all looked. \ Nirmala tells you that her mother had treated pulmonary TB when she was a child but is in excellent health. Other than that no one is sick at home. The last two months have been a rare respite from childhood respiratory illnesses. \ [[You ask her to describe her respiratory symptoms]]

Nirmala says: \ I just seem to get more puffed when I’m trying to run around with the catering business and the kids. I seem to be forever catching my breath. Maybe it’s just because I have so much to do: Peter’s working FIFO with the mines in WA and he won’t be back for another week. \ \ Nirmala tells you that she has no cough, though she does sometimes sneeze. This is not too uncommon for her at this time of year. She’s already checked herself for COVID using a RAT test. She went to Singapore a month ago for a family wedding function. [[You proceed to examine Nirmala]]

Nirmala says: \ I just seem to get more puffed when I’m trying to run around with the catering business and the kids. I seem to be forever catching my breath. Maybe it’s just because I have so much to do: Peter’s working FIFO with the mines in WA and he won’t be back for another week. \ \ Nirmala tells you that she has no cough, though she does sometimes sneeze. This is not too uncommon for her at this time of year. She doesn’t get night sweats. She’s already checked herself for COVID using a RAT test. [[You examine Nirmala]]

On examination, Nirmala is in no respiratory distress. BP 110/72, PR 68 sinus rhythm, RR 12. Respiratory examination returned a normal finding with clear lung fields, no added sounds, resonant percussion note. There is no lymphadenopathy. Her cardiovascular examination is similarly unremarkable. \ You wonder if she could have exposure to any respiratory pathogens on the trip to Singapore, so you order a Chest X-ray, which is reported as normal. You decide to treat this as exercise-induced asthma in the context of a seasonal flare-up of hayfever. [[Three months later, Nirmala makes an urgent appointment to see you.]]

On examination, Nirmala is in no respiratory distress. BP 110/72, PR 68 sinus rhythm, RR 12. Respiratory examination returned a normal finding with clear lung fields, no added sounds, resonant percussion note. There is no lymphadenopathy. Her cardiovascular examination is similarly unremarkable. \ You’re a little bit concerned about latent or reactivated TB given her mother’s history, so you order a Chest X-ray, which is reported as normal. \ You decide to treat this as exercise-induced asthma in the context of a seasonal flare-up of hayfever. [[Three months later, Nirmala makes an urgent appointment to see you.]]

Nirmala requests urgent conjunctivitis treatment. \ She tells you that her right eye has been painful for the last three weeks with some light sensitivity. \ On examination she has a reddened bulbar conjunctivae with a ciliary flare. Her vision is 6/12 uncorrected in the right eye, and 6/6 in the left eye. There is no conjunctival discharge in either eye. The remainder of the physical examination is normal and she reports no other symptoms. \ \ [[You decide to treat this with topical antibiotics.]] \ [[You write a referral to an optometrist for assessment.]] \ [[You refer her urgently to the public hospital which has an ophthalmologist on call.]]

Her vision and eye pain worsens over the next week while self-administering the antibiotics. \ She self-refers herself to the public hospital, where she is diagnosed with uveitis and treated with prednisolone eye-drops and topical cyclopegics. Luckily her vision is restored. \ Nirmala remains a patient of the practice but she does not return to see you. [[Make a different choice|Three months later, Nirmala makes an urgent appointment to see you.]]

Nirmala is diagnosed with uveitis, as you had suspected, and is treated there with prednisolone eye-drops and topical cyclopegics. She returns to see you for review the next day and you begin to taper down the prednisolone dose over the [[next week.]]

Nirmala calls in to see an optometrist that afternoon. \ \ The optometrist urgently refers her to hospital for suspected uveitis. She is treated there with prednisolone eye-drops and topical cyclopegics. \ Nirmala is encouraged to see urgent ophthalmological review should she have another episode of uveitis. \ \ She returns to see you for review the next day and you begin to taper down the prednisolone dose over the [[next week.]]

Three months later Nirmala brings her children in for routine immunisations. \ \ Salma the practice nurse pops in to your consulting room to say that Nirmala is pushing at her chest and says she has had a “weird pain” there for two months. She has been to the emergency department who have made a presumptive diagnosis of heartburn. It hasn’t improved with antacids. \ [[You decide to see Nirmala as a fit-in between other patients.]]

Nirmala looks tired, which is understandable because the twins are a handful. Kiran bangs the cupboard doors throughout the consultation. Naresh is wailing after his immunisations. Both Nirmala's eyes are reddened. \ \ Nirmala thinks her pain is due to stress because her husband recently gave up his FIFO work and there has been a lot of family discord at home. \ \ The pain is clinically in the chest wall, though hard to localise. \ \ [[You decide to focus on maternal mental health]], while asking safety-netting with an ECG and cardiovascular examination. Her cardiovascular examination is normal, and you can find no abnormality on abdominal examination and there are possibly some ronchi heard on the CXR (difficult to tell with all the ambient noise).

You do your best to get a mental health history in the chaotic context of the consultation. \ You conclude that Nirmala is indeed under a great deal of stress at the moment. [[You refer her to a parent support service in your region.]] [[You ask her to come back to see you for a longer consultation.]]

Nirmala doesn't attend the parent support group. She goes back to the emergency department and has another cardiac work-up which is normal. She is diagnosed with non-cardiac pain. She and her husband split up and she moves town. You don't see her again. [[Start again|BEGIN]]

Nirmala comes back a few days later. Without the children in the room, you can examine her more fully. You do think you can hear some ronchi in her chest, and you notice that both her tarsal conjunctivae have multiple small nodules. The remainder of the examination is normal. You order a range of tests including urea and electrolytes, a full blood count, and liver function tests, and you consider ordering a Chest X-ray. Nirmala notes that you ordered one six months ago that was reported as normal. [[You decide you will do another Chest X-ray.]] \ [[You don’t do another Chest X-ray. It will expose her to too much radiation.]]

The Chest X-ray reports hilar lymphadenopathy and many micronodules in her chest. All her blood tests are within normal limits. \ In the meantime, she has seen the optometrist who has an office next to the Xray department for her sore eyes and she has referred her to an ophthalmologist for a biopsy. \ You are now very suspicious about sarcoid, and ring an immunologist and sends a copy of the X-ray report. You are advised to start oral steroids while waiting to see the specialist in one month. The ophthalmologist appointment is several weeks away. \ You discuss with Nirmala starting on this presumptive treatment while [[getting a formal work-up.]]

All her blood tests are within normal limits. You decide to refer her to the ophthalmologist for a biopsy of the tiny nodules in her conjunctivae. The ophthalmologist rings you with the results of the biopsy one month later. They are consistent with sarcoid. You ring an immunologist and are advised to start oral steroids while waiting to see the specialist in one month. You discuss with Nirmala starting on this presumptive treatment [[getting a formal work-up.]] Part of the work-up involves a chest Xray which shows hilar lymphadenopathy and many micronodules in her chest.

After some further work-up by the specialist, and the conjunctival biopsy report Nirmala is diagnosed with sarcoidosis. She starts taking methotrexate weekly and her eye and chest symptoms improve. You and she reflect on her [[diagnostic journey.]]

Nirmala's diagnostic journey evolved through a range of presentations. Sarcoid is diagnosed through careful history, examination, investigation to exclude other causes of symptoms. The initial symptoms after the trip to Singapore may or may not have been associated with sarcoid. Ocular sarcoidosis is rare. Her framing of the problem as conjunctivitis was not consistent with her symptoms, and required you to recognise that she had uveitis. Although sarcoid is a cause of uveitis there are many others. At her final presentation in the middle of a family crisis, she had conjunctival nodules and chest pain, both of which may be associated with sarcoid, Neverthless, neither is specific for sarcoid. The combination of a Chest X-ray and conjunctival biopsy in the context of her symptoms was most useful in arriving at a diagnosis. \ \ There are many other presentations of sarcoid, and many other journeys to diagnosis. Nirmala's persistence and your own willingingness to re-examine and re-assess while still managing symptoms were both necessary to reach a diagnosis. [[What happened next?]]

Five years later, Nirmala remains stable on weekly methotrexate. She and her husband have started a catering business so that they can work together from home. Her fatigue has not resolved. She is hopeful that her condition will be stabilised and she will not have progressive lung disease. She has no further eye complications of sarcoid. The children are now both ten years old, and have recently persuaded their parents to purchase a python. \ \ [[Learn more about sarcoidosis.]]

{embed YouTube video: 'https://www.youtube.com/watch?v=oc_LZunuUE0'} Source: Cleveland Clinic "Understanding Sarcoidosis and How it Affects People" Read [[patient stories->https://www.sarcoidosisuk.org/sarcoidosis-stories/]] about living with sarcoidosis Read [[factsheets ->https://lungfoundation.com.au/wp-content/uploads/2018/09/Factsheet-Sarcoidosis-Jul2016.pdf]] about sarcoidosis. [[CREDITS]]

**This game was developed by The Australian National University** Christine Phillips \ School of Medicine and Psychology \ Jane Desborough, Anne Parkinson, Tergel Namsrai \ National Centre for Epidemiology and Population Health **Game development consultant** \ [[Ruqiyah @ ub4q->https://ub4q.games/]] **Advisers** \ Elaine Kelly, Sacoidosis Lyme Australia \ Dianne Gregory, Sarcoidosis Lyme Australia \ Anita Chalmers OAM, Myositis Association Australia \ Christine Lowe, Myositis Association Australia \ Carolyn Dews, Immune Deficiencies Foundation Australia **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 Chapbook 1.2.3