Nurses focus on Chronic Granulomatous Disorder
Accreditation from the Royal College of Nursing was one of many good reasons for the high turnout at the first CGD Nurse Study Day.
The event on 27th September attracted nurses from a wide variety of work settings, including GPs’ surgeries, hospital wards and community and clinical nurse specialties. They hailed from Cardiff to Newcastle, Barking to Scunthorpe. The day aimed to raise awareness of chronic granulomatous disorder among medical professionals, and was generously part-sponsored by the World Immunodeficiency Network (WiN), the grant-making arm of the Jeffrey Modell Foundation.
Rhian Lant, the Trust’s CGD Clinical Nurse Specialist, played a key role, speaking alongside Professor David Denning, University of Manchester and Dr Penny Titman of Great Ormond Street Children’s Hospital, London. They were joined by Simon Capell, a CGD Research Trust (CGD RT) trustee who is affected by CGD, and Angela Stockwell, mother of a nine-year-old son who has the condition.
CGD RT Director Dr Nelson gave full recognition to the vital role of nurses in the lives of people affected by CGD. She highlighted the Trust’s decision to double its nurse support service to two full-time staff and encouraged nurses to apply for the new post of clinical nurse specialist for adults with CGD, based in Manchester. Please click here to see the advertisement. Dr Nelson explained that the CGD Research Trust boosts funds for research with proceeds from Jeans for Genes as well as producing information, giving support to patients and families and raising awareness among professionals. Delegates heard how the popular Jeans for Genes brand and campaign was started by the CGD Research Trust.
The Presentations
Rhian Lant, CGD Clinical Nurse Specialist, gave three presentations: An Introduction to Chronic Granulomatous Disorder; Care and Nursing Needs in CGD and Carrier Issues, about the women who carry CGD and are at risk of passing it to any sons.
An Introduction to Chronic Granulomatous Disorder (summary)
The Introduction to CGD explained its pathology; the inheritance of the condition, signs and symptoms and the treatments and cures currently used. Ms Lant stressed that she provides back-up to medical professionals seeking information about CGD.
She advised it was important to take a family history when patients present with a variety of symptoms. Use of language also mattered: professionals who called it ‘Chronic Granulomatous Disease (as opposed to Disorder)’ could cause distress to adults and adolescents who felt stigmatized by the disease label. It was also good to ensure those involved in the care of a child with CGD understood the reasons why they were asked to take unusual precautions. For example, the reason why compost must be avoided is not to avoid dirty hands, but because it harbours aspergillus spores that may inhaled.
Care and Nursing Needs in CGD (summary)
This talk was a factual guide on the prophylaxis for CGD, and the treatment and management of problems in CGD. It was important to understand the underlying cause of a problem in order to give swift and correct treatment, a theme which recurred throughout the study day. For example, it was unwise to assume that if passing urine was painful or difficult there must be a urinary infection. Urinary infection is not a frequent complication in people with CGD and the cause was more likely to be a blocked urethra due to a granuloma, which needs treating with steroids.
Carrier Issues (summary)
Many delegates appreciated the presentation on carrier issues in CGD, a subject rarely explored. Carriers of CGD may suffer feelings of guilt for passing on the condition to a child, and mothers who are X-linked carriers may find this a lonely burden, as it is not (biologically speaking) shared with their partner. The importance of treating ‘Lupus-like’ symptoms in X-linked carriers was also reviewed, as was the importance of genetics counseling for affected family members
Professor David Denning has a longstanding interest and experience in infectious disease and is now Professor of Medicine and Medical Mycology at the University of Manchester. He has been associated with the CGD Research Trust for a number of years and has been on the charity’s medical panel. Professor Denning praised the charity for being highly motivated in its aims and organized in its work.
The CGD Research Trust has been one of the sponsors of the Aspergillus Website, a valuable resource to people with an interest in CGD. Highly and rapidly invasive, Aspergillus poses a serious risk in CGD, so early recognition and treatment is imperative to successful treatment. It is equally important to discover the species of Aspergillus infection. For example, Aspergillus nidulans, frequent in CGD, is amphotericin B resistant. For the other forms of Aspergillus, a relatively new drug voriconazole is better than amphoteriin and in Manchester Professor Denning’s team favours the use of voriconazole and Caspofungin for Aspergillus infections in children. Also in the armoury include itraconazole and posaconazole. He highlighted the ineffectiveness of fluconazole against Aspergillus.
We are surrounded by sources of Aspergillus in abundance, in building dust, grass cuttings and elsewhere. The audience was amazed to learn that a little known site of collection is in pillows. Professor Denning advocated replacing pillows every six to twelve months and Ms Lant recommended regular washing followed by thorough drying of pillows.
The patient perspectives were welcomed by all of the delegates, who found their experiences highly informative. Initially, Angela Stockwell’s son was mis-diagnosed with cancer. The family saw a great number of consultants and on finally meeting Professor David Goldblatt of Great Ormond Street, he asked a significant question – did Angela have recurrent mouth ulcers? [See ‘Lupus like’ symptoms in carriers, above]. On hearing the answer was yes, a blood test for CGD was immediately requested for her son.
Mrs Stockwell’s experiences in hospital illustrate the difference that nurses can make, through their upbeat attitude and openness to new treatment methods, such as hypnotism before anesthesia. She told the nurses that a small thing like a bravery certificate can make a world of difference to a child in hospital.
Trustee Simon Capell is a self-confessed ‘professional patient’ who said he usually knows more about the condition than many of the medical professionals he sees. With a 2:1 degree and a love of travel, he spoke of living life to the full. He appreciated the NHS and the staff working in it but made two pleas. The first, that staff observe simple rules when treating a CGD patient – washing hands, using sterile gloves and sterile gauzes for dressing and administering pain relief for children, whose pain is often ignored. The second plea was for the professionals to appreciate that speed is essential in treatment for someone affected by CGD.
Dr Roy Evison, trustee, shed light on the difficulties there can be in diagnosing CGD, especially in a GP’s surgery where a family may see a variety of doctors over time. Patients can present with a variety of non-specific symptoms, seemingly unrelated – bouts of diarrhea and sickness, skin infections, gum disease. Dr Evison’s overall message was that traditional methods should be employed in such cases – to listen carefully and examine the past medical history, ever more difficult as records are being computerized.
Another aspect of CGD was investigated by Dr Penny Titman, who has a specific interest in the emotional impact on patients with chronic primary immune deficiencies. By the time a diagnosis is made, families and patients affected by CGD are often very anxious with a wide variety of concerns and feelings, from guilt to uncertainty. Isolation, fear of medical procedures, adolescent attitudes to therapy compliance, and differing opinion between parents on precautions are just some of the problems experienced. Listening carefully to patients and avoiding making assumptions emerged again as a key piece of advice to clinicians, this time as Dr Titman explained that physical symptoms are sometimes wrongly attributed to anxiety. Dr Titman explored the relationship between physical illness and emotional impact. Although many children and families can cope with the condition very well, research has shown that physical illness increases the risk of psychological difficulties which present as emotional, rather than behavioural, problems. Access to clinical psychology support services can be difficult and Dr Titman highlighted the provision of a new CGD clinical psychology support service.
- CGD Clinical Psychology Support Service for Patients and Families (PDF)
- Information sheet for Medical Professionals (PDF)
Clinical Nurse Specialist Helen Harvey has much experience in the Bone Marrow Transplant Unit at Newcastle General Hospital. She defined Bone Marrow Transplant (BMT) and/or Haematopoietic Stem Cell Transplant (HSCT) as a means of replacing one immune system with another. The procedure has come a long way since the first treatment for SCID in 1968 and Newcastle have an increasingly good track record with the procedure for patients with CGD. Post BMT, lung function and CGD colitis seem to show improvements in patients who have experienced those problems previously. Transplant is a much lengthier process than the actual procedure, Ms Harvey explained. A suitable donor needs to be found, with a matched sibling donor if possible although unrelated matches are being used successfully. It takes time to prepare the child and the family for a transplant; they need to consider social issues as well as the hospital stay. Nursing care will include preparing infusions administered via the central venous catheter, ensuring there is strict personal hygiene, paying attention to nutrition, giving psychological support, particularly for teenage patients. In the last nine years, the team in Newcastle has treated 22 boys with CGD, 10 with matched sibling donors and 12 unrelated donors, with an 81.5% cure rate. Sadly there were two deaths and Graft versus Host Disease remains a risk. However, the view that HSCT is risky and dangerous for patients with CGD is outdated as patients are treated with increasing success.
The delegates learned that gene therapy has been used for a number of patients with CGD.
Gene therapy may become a treatment option for those who cannot have a BMT. It has been used for a small number of patients as a last resort. It seems to have been effective as a treatment for a specific problem, (although it is not entirely clear to what extent the procedure itself is responsible for improvement) rather than a cure. More research work is underway.
It is possible to give GT to a patient more than once. There are risks associated with the vector inserting genetic material near an oncogene. It is possible that this may trigger leukemia, as in the gene therapy cases seen in Paris. Some differences in the procedure here in the UK, such as using a different vector, may be the reason UK patients have so far avoided this outcome.
Overall Summary
Within the context of each presentation, every speaker highlighted the need always to:
- Listen carefully to CGD patients
- Avoid making assumptions
- Identify the underlying cause behind symptoms
- Give immediate attention and swift treatment to patients with CGD
The positive response from delegates included requests for more study days and revealed the need to aim days at different groups of medical professionals.
For relevant articles, please see:-
Lessons Learnt at the CGD Nurse Study Day.
For relevant news items, please see:-
Mulch poses risks in CGD
CGD features on NHS 'Telling Stories' site
The Editor interviews Rhian-Keturah Lant, the CGD Research Trust's very own Specialist Nurse
IMPORTANT NOTE :
The information contained on this website is intended only as a guideline, not as a substitute for medical advice. Always consult your doctor if you or your child has any CGD symptoms or concerns.
© 2001-2007 The Chronic Granulomatous Disorder (CGD) Research Trust
Registered Charity No. 1003425 email:cgd@cgdrt.co.uk
The CGD Research Trust is a member of the Association of Medical Research Charities (AMRC), the Genetic Interest Group (GiG) and an associate member of the International Patient Organisation of Primary Immunodeficiencies (IPOPI)
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