CGD is a rare life-threatening and life-limiting genetic condition that can be managed with care and support. It affects around 8 people in a million and has severe consequences for those affected. People with CGD carry a faulty gene, which prevents the immune system fighting off certain infections. As a result, they tend to get frequent bacterial and fungal infections, and need to take daily medication to stay healthy. CGD-affected people experience a wide range of health complications, many of which are due to chronic inflammation rather than infections. Families affected by CGD often face overwhelming medical, emotional and financial challenges, which can be even more tricky around the Christmas season.
What we are raising funds for
This Christmas, we are asking for donations towards the support provided to families and individuals affected by Chronic Granulomatous Disorder (CGD) by our UK based CGD Clinical Nurse Specialist. Our charity fully fund this specialist support through a contract with Great Ormond Street Hospital.
The CGD Clinical Nurse Specialist clinical and wellbeing support is critical in the coordination of care for families and individuals affected by this rare disorder. The CNS supports around 180 patients a year which includes help with decision-making, medication management, discussing treatment options, and coordination of care including speaking with GPs and local medical teams to ensure correct treatments are in place.
She provides a point of contact, including visits, for hospitals and GPs presented with a CGD patient (both for emergencies and regular care) and for schools and other organisations to provide information about CGD and the care needed for a student or employee with CGD. She also makes referrals for genetic testing and provides clinical and emotional support to female X-linked carriers.
Her support for families in clinical and non-clinical settings means that those affected by CGD experience joined up clinical and social care/support, improving their medical outcomes, enhancing their wellbeing and quality of life and improving their overall experience of care and support across a range of settings. Families are also helped to access appropriate state and third sector support as needed. Overall, this improves the wellbeing of families affected by CGD, leading to an overall improvement in their quality of life.
Feedback from CGD families on the support they have received by our CNS:
“As grandparents of a child with CGD, we have also had first hand dealings with the CGD Clinical Nurse Specialist. She is amazing, so kind, understanding, compassionate, truthful and knowledgeable about this rare disease. I shall always be grateful for her support and care throughout this ordeal that our family went through. Truly a huge asset to all whose lives need to pass through the CNS care.”
"It feels like we are coming out the other side!! A huge thank you to you for the support you have shown us, especially when my child was really ill! I couldn't have done it without you! The whole experience was so daunting & I felt very lost, between you and the Community nurses you completely kept me going and did the best for my child."
“Without the specialist nurse’s support our CGD journey would have been vastly different. She has supported every member of our family when needed and has always gone beyond to help us. We honestly could never thank her enough.”