April 17th marks World Haemophilia Day, a global awareness day for haemophilia and other inherited bleeding disorders. This year’s theme is “Access for All: Partnership. Policy. Progress.” As healthcare professionals, it is our duty to understand these conditions, advocate for service users, and ensure they receive proper treatment and support. In the UK alone, over 8000 people live with haemophilia and related disorders. On World Haemophilia Day, let us reaffirm our commitment to this community.
What is Haemophilia?
Haemophilia is a rare genetic condition, usually inherited, that impairs the body’s ability to form blood clots. This results in prolonged external and internal bleeding after injury. The two main types are haemophilia A, a deficiency in factor VIII, and haemophilia B, a deficiency in factor IX.
Severity ranges from mild to severe based on how much clotting factor is present. People with haemophilia experience spontaneous bleeds into their joints and muscles, which can be extremely painful. This causes deterioration and disability over time.
Providing Optimal Patient Care
Early diagnosis and comprehensive treatment are key to preserving quality of life for those with inherited bleeding disorders. As a healthcare provider, being able to recognize the symptoms is crucial. Prolonged bleeding after vaccinations, surgery, or trauma may be a red flag. Referring to service users for prompt testing and diagnosis enables earlier access to therapy. Once diagnosed, developing a personalized treatment plan is essential.
This includes prophylactic clotting factor infusions to prevent bleeds, access to specialist physiotherapy, and effective pain management. Emotional and psychosocial support should also be incorporated, as living with a chronic condition can be challenging.
Partnering with Haemophilia Treatment Centres
In the UK, a network of Haemophilia Comprehensive Care Centres (HCCCs) deliver specialised care for those with bleeding disorders. These multidisciplinary teams include nurses, physiotherapists, orthopaedic specialists, and lab scientists. As primary providers, we must foster relationships with our nearest HCCC. This facilitates information sharing and a smooth transition of care for newly diagnosed patients. Ongoing communication also enables optimization of therapy if bleeds occur. Furthermore, HCCCs offer summer camps and family support groups, providing psychosocial benefits beyond just medical care. Connecting our patients with these resources can greatly enhance their wellbeing.
Evolving Treatment Landscape
Recent advances in therapies are revolutionizing the treatment of haemophilia. Extended half-life clotting factors offer the convenience of less frequent infusions. Gene therapies, delivering functional genes to compensate for the missing clotting factor, are starting to emerge as potential cures. Other novel non-factor therapies are in development. Understanding the shifting treatment landscape empowers us to provide up-to-date counselling and education to our haemophilia service users. Attending conferences and engaging with reputable organizations keeps us informed.
Improving Access to Care
In the UK, patients benefit from public funding via the NHS for clotting factor products. However, enhancing access remains an opportunity. Restrictive NHS treatment protocols mean not all patients receive optimal prophylaxis to prevent bleeds. Remote home delivery of therapy for suitable patients could improve adherence. Increasing availability of extended half-life factors would require less infusions. Supporting tweens and teens in self-infusing promotes independence and school attendance. As advocates, we can write to NICE and the NHS, amplifying the voices of our patients in requesting expanded treatment access.
Raising Public Awareness
Surveys show general public understanding of bleeding disorders is low. As haemophilia is an invisible condition with no outward symptoms, there is a lack of empathy for patients’ struggles. Fostering awareness is vital to building an inclusive society. We can display posters and distribute materials about bleeding disorders in our clinics. Speaking about haemophilia when teaching students highlights the need. Social media posts and participating in fundraising events gets the message out into the wider community. Radio or TV interviews provide platforms to share knowledge and personal stories. Collectively, we can make haemophilia understood.
Supporting Families
Receiving a diagnosis of haemophilia has a profound impact on families. Parents often experience anxiety, guilt, and overprotectiveness towards their affected child. It is crucial we provide adequate psychosocial support early on. Explaining the condition in positive, hopeful terms is important. Facilitating connections with other families can establish a sense of community. As the child grows up, issues like school absences, pain, isolation, and self-esteem may arise. Counselling services help promote resilience. Discussing reproduction options empowers informed family planning decisions. Our emotional support eases the challenges families face.
The Future for People with Haemophilia
Though much progress has been made, there is still no cure for hemophilia. However, the future looks brighter than ever. Gene therapies like etranacogene dezaparvovec are producing long-term factor levels and bleed reduction. Innovations like emicizumab, mimicking factor VIII, are making profound impacts. With emerging treatments on the horizon, one day bleed-free lives may be achievable. We must keep this hope alive for our patients.
Support groups and summer camps allow kids with haemophilia to connect and gain independence amongst their peers. As we celebrate World Haemophilia Day this April 17th, let us continue working together to create better tomorrows for this inspiring community.
