Counsel the family of a newly diagnosed child with haemophilia A — OSCE

Candidate instructions

You are the paediatric registrar. You have eight minutes to speak with Mrs Patel, whose fourteen-month-old son Arjun has just been diagnosed with severe haemophilia A after presenting with two swollen knees. Arjun's maternal uncle needed injections for bleeding as a child. The team is starting him on prophylaxis. Explain what haemophilia A is in plain language, what the treatment options are including the choice between factor infusions and the subcutaneous medicine emicizumab, what to do when Arjun bleeds, the warning signs that mean coming straight to hospital, and how the condition may affect his future. Answer her questions, check her understanding, and agree a plan. [1]

Actor brief (parent — Mrs Patel)

You are worried but articulate. You knew bleeding ran in the family because your brother had it, but you did not realise it could affect your son. You want to know: (1) Is it your fault he got it, and is it because you carried it? (2) Will he need injections forever, and can he have a normal childhood with sport and school? (3) What do you actually do when his knee swells up again? (4) When is it an emergency — what frightens you most is a head injury. (5) Will he pass it on to his own children one day? Push back gently if the candidate uses jargon, minimises the lifelong nature of the condition, or does not check your understanding. You settle when you feel the candidate respects your knowledge of your brother's condition and gives you honest, practical, balanced information. [2]

Exemplar candidate approach

Open and acknowledge. "Mrs Patel, thank you for coming in. I know this diagnosis has been a shock, and I know the condition is close to your family's experience because your brother has it too. That actually gives us a head start in looking after Arjun. I want to explain clearly what haemophilia is, what the treatment options are, what to do when he bleeds, and what it means for his future, so that together we can make the right plan for him." [1]

Explain the diagnosis and inheritance in plain language. "Haemophilia is an inherited condition where the blood is missing one of the proteins that makes it clot properly — in Arjun's case it is called factor eight. Because his blood does not clot as quickly as it should, he bleeds for longer, especially into his joints and muscles, which is why his knee swelled up. It is not your fault, and it is nothing you did or didn't do during pregnancy. It is carried on the X chromosome — women are carriers and men get the condition — so because you carry it, there was a fifty-fifty chance Arjun would have it. Your brother has it because he is male. It does not mean Arjun's form is more or less severe than your brother's was." [2] [3]

Explain the treatment options honestly. "There are two main ways we treat it today. The first is regular infusions of the missing factor eight through a drip or a port — a small device under the skin — every couple of days, which keeps his level up and prevents bleeds. This has been the standard for years and it works very well. The second is a newer medicine called emicizumab, which is given as a small injection just under the skin once a week and does the same job as factor eight without needing a drip. For many children emicizumab has made treatment much easier, because it means no regular drips and no port. Both are very effective at preventing the joint damage that used to happen in your brother's generation. We will talk through the pros and cons and choose together." [5] [9] [11]

Explain bleed management and the emergency signs. "When Arjun's knee or another joint swells up, the first thing is the medicine — a dose of factor eight to bring his level up quickly — plus rest, ice and keeping the joint still. We will teach you to recognise a bleed early, because treating it early prevents joint damage. The emergency you must never wait on is a head injury. If Arjun bumps his head, even if he seems fine at first, you bring him straight to hospital or call an ambulance, because bleeding inside the head is the one thing that can be life-threatening, and we give the medicine immediately without waiting. We will give you a card and a medic alert bracelet that tells any doctor he has haemophilia, and a clear plan for what to do." [1] [3]

Address the lifestyle and future-children questions. "Arjun can absolutely have a normal childhood. With good treatment he can go to school, play most sports — we will guide you on which are safer — and do everything other children do. We avoid a few things: no injections into the muscle, so his immunisations go under the skin or into the vein instead, and we avoid certain pain medicines like ibuprofen that can worsen bleeding. As for his own children one day: because the gene sits on the X chromosome, each of Arjun's future daughters would be a carrier, but his sons would not have haemophilia. So his children are very likely to be well, and when he is older we will make sure he understands the inheritance fully. Many adults with haemophilia have healthy families and full lives." [2] [3]

Check understanding and agree a plan. "Can I check — what is your biggest worry right now, and has anything I have said been unclear? Here is what I suggest: we start Arjun on prophylaxis over the next week or two, we teach you and your partner how to recognise and treat a bleed, and we give you a written plan and a medic alert bracelet before you go. We will see you regularly in the haemophilia clinic with a team that includes physiotherapy, nursing and social work. Your experience of your brother's condition is invaluable, and I want you to feel confident every step of the way. Does that sound right to you?" [1]

Mark scheme (10 marks)

• Empathy and relationship (2): acknowledges the family's experience, respects the parent's knowledge, plain language, does not minimise the lifelong nature of the condition. [2]
• Explains the diagnosis and inheritance clearly (2): factor VIII deficiency, carried on the X chromosome, not the parent's fault, fifty-fifty chance. [2] [3]
• Explains the treatment options with balanced pros and cons (2): factor infusions versus subcutaneous emicizumab, prophylaxis preventing joint damage, the choice made together. [5] [9]
• Explains bleed management and the emergency signs honestly (2): early factor for a joint bleed, rest and ice, and the rule that a head injury means coming straight to hospital. [1] [3]
• Addresses the lifestyle and inheritance questions and agrees a plan (2): normal childhood with guidance, avoidance of intramuscular injections and certain pain medicines, daughter-carrier son-unaffected inheritance, checks understanding. [1] [11]