Confirmation of the diagnosis has been described by some families as being like a rollercoaster, often involving many obstacles along the way.1 Once diagnosed, parents and carers experience a number of strong emotions (see Figure 1).1 Although there is a feeling of relief at knowing what is causing the symptoms, it is a huge emotional blow which can lead to feelings of devastation and despair about what the future may hold, especially where symptoms are mild or other, less severe diagnoses have been discussed with doctors initially. In the case of young children, being diagnosed with NP-C can remove the stigma of the `naughty child’ or the `pushy parent’ and they can finally access the support or services they need.
Figure 1: The emotional impact of a diagnosis of NP-C
A confirmed diagnosis at any age means that you and your family can now start accessing the help and support available.
Caring for a family member with NP-C requires time and energy, which although extremely rewarding, can at times be all-consuming and overwhelming. Therefore, it is important to look after yourself and ensure you take time to rest as well. The wide-ranging symptoms mean that you, and your family, may have to liaise with different medical specialists and administer a number of therapies, so it is important to remember that there is help available to support you in your caring role. Patient associations (click here for further information) are an important resource, providing access to information and counseling services. They also provide the opportunity to talk to and meet other people living with NP-C as well as to share experiences and concerns. This can include information about managing symptoms, finding grants to increase the accessibility in your home and accessing respite care. In addition, specialist medical centers supported by highly trained medical staff can provide information and help with all aspects of NP-C care.
…remain as calm as possible given the situation and not to get overwhelmed any more than is necessary…take each day as it comes because not all the problems happen at once and you can resolve them one by one as they happen. You can’t do anymore than this.
Parent, Spain, NP-C patient survey 20101
Introduction to Jackie Imrie
Jackie Imrie has been supporting NP-C patients and their families for over a decade and has more than 20 years’ experience in metabolic medicine. In 1999 she became a valuable member of the UK NP-C patient group, the Niemann-Pick Disease Group (NPDG (UK)), as a clinical nurse specialist. In this role Jackie provided emotional and practical help and advice to UK families who needed support. Jackie retired from the NPDG (UK) in December 2011 and is now an independent consultant working with Actelion. She continues to support patients and their families, alongside the Clinical Nurse Specialist and the NPDG (UK), as well as carrying out research and raising awareness of NP-C across the globe.
In this interview, Jackie provides insights into how diagnosis and management of NP-C has changed and what information and support is available to patients and their families, both in the UK and internationally.
How has the diagnosis and management of NP-C changed over the years?
The diagnostic process is similar but as NP-C is such a rare disease, the often lengthy time to diagnosis is still a huge challenge. However, awareness of the disease has increased over the past decade, for example, in 1999 there were 44 diagnosed NP-C patients in the UK but in 2012 this number is almost double, which shows our efforts are having an impact.
We need to work hard to achieve accurate, fast diagnoses for NP-C patients and their families, therefore the aim is to educate healthcare professionals to raise awareness of the condition. Patients and their families can only access support and treatment if they have a confirmed diagnosis and so it is vital that we reach a diagnosis in the shortest time possible.
What do patients and families need to know about NP-C?
In the UK, the role of the NPDG (UK) is to talk with patients and families, explain what the symptoms are, how these might affect them and how the disease can progress. Talking about medication is also useful, as this helps families to understand the treatments available, possible side effects and how best to manage these.
Access to information about NP-C varies across the world, so it is important to contact the local patient group or healthcare professional to find out more.
What questions do patients and families frequently ask?
I am often asked if there is a cure for NP-C. Unfortunately there is currently no cure, but we do have disease-specific and symptomatic treatments, which can maintain quality of life. I always tell families that NP-C affects every patient differently, so it is difficult to know how the disease will impact them. It is important that families talk with an NP-C specialist, if possible, as they will be able to assess the individual and offer the appropriate support for their needs.
What information and support are families looking for?
I often say “families don’t know what they want until they are told what they need”. Patients and families in the UK have benefited from a range of support and services offered by the NPDG (UK), such as:
Educational booklets and resources
Advice on how to tell teachers, healthcare professionals and extended family about NP-C
Emotional support for day-to-day life with NP-C
Practical support including advice on mobility aids and disability benefits
Organization of consecutive medical appointments to minimize interference with school, work and valuable time spent together.
We are working to try and make this information and support available across countries worldwide. In countries where no patient groups exist, families may benefit from contacting their healthcare professional. They may be able to put them in contact with another family to share experiences, which can prove extremely valuable to families.
How can symptoms of NP-C be managed?
Alongside disease-specific therapy, there are a number of symptomatic treatments available, which really do help patients maintain quality of life, including treatments for seizures. Aids, such as special cutlery to make eating easier, and adaptations to the home can make life easier for the whole family. Speaking with other families can really help to understand what has helped them in their day-to-day life.
In some countries the patient groups are able to put patients and families in touch with a team of specialists to help manage the individual symptoms, including:
Pediatricians to help manage symptoms in young patients, for example seizures
Neurologists to help manage the neurological symptoms of NP-C
Physiotherapists to provide practical support to maintain mobility
Speech and language therapists to help with speech and swallowing
Dieticians to offer dietary advice to minimize the gastrointestinal effects associated with some medication.
Families may find it helpful to try and coordinate their appointments with healthcare professionals on one day to minimize disruption.
What benefits can patients and their families expect from disease-specific therapy?
Patients have told me that they have seen benefits of disease-specific therapy, which is supported by the clinical trial data. Some patients have been receiving disease-specific therapy for around a decade and symptoms have remained stable. Patients may experience some side effects but in most cases these have been manageable with dietary advice and changes.
What is the emotional impact of NP-C at the time of diagnosis and throughout the disease course?
Receiving a diagnosis of NP-C can be extremely emotional and it is important for families to understand they are not alone in how they are feeling. For some families it is a relief, especially if they have experienced a long journey to diagnosis and it finally provides an answer to the symptoms. For others it is a complete shock, especially if the symptoms presented are minor.
I try to reassure families that although they may fear the worst when hearing the diagnosis, talking to someone who understands the condition can really help.
What support is available and what advice would you give to families seeking support?
In some countries, there is considerable support available through patient groups, who can provide advice on education, hospices and respite for the carer.
In countries where this level of support is not currently available, families should contact their healthcare professional who may be able to put them in touch with other families. This may facilitate sharing of information, aids which have helped the families and where they might be able to access further support.
Families and healthcare professionals can also contact the NPDG (UK) as they, through the International Niemann-Pick Disease Alliance (INPDA), may be able to access more local support.