What support is available for patients with Gaucher disease and their families?

In a survey of 28 patients with Gaucher disease, most patients sought psychological and social support from their spouse in coping with the disease, followed by their friends, extended family, religious groups and children. Most patients reported that Gaucher disease in fact had a positive impact on their outlook on life, causing them to become more realistic, with many stating that having a fairly positive attitude helped them handle their disease, and that acceptance of their diagnosis was important. However, several patients with Gaucher disease in this study also noted that the most difficult aspect of coping and living with their disease was the unknown element of when or if their disease was going to get worse. The surveyed patients also indicated that they felt there was a need for increased education about Gaucher disease, and that although self-education was important, they would like healthcare professionals to provide more information to them via websites, pamphlets, and individual or group information sessions.1

Information for patients with Gaucher disease

Patients with Gaucher disease require accurate, easy-to-understand information about their disease, symptoms and progression.2

A number of patient support groups across the world have been initiated by patients with Gaucher disease and their families seeking information. These patient support groups promote the exchange of experiences between patients and their families, either via email or telephone; and can act as an intermediary in many discussions on a national and international basis. Recent initiatives to involve patients in scientific and medical meetings has meant that leaders of these patient support groups can interact with clinicians and scientists from around the world, and can play an active role in enhancing collaboration with Gaucher disease medical centres.2

Providing emotional and practical support is critical for families of children with neuronopathic Gaucher disease, and may involve visiting new families in their homes or in hospital. Families of children with Gaucher disease may also meet older children with the disease, as this may allow them to have a more positive outlook of the disease and the future.2

Detailed advice should be delivered to families of patients with Gaucher disease Type 2 on the clinical management of the disease as soon as the diagnosis is made, and children should be referred to a specialist Gaucher disease centre. Due to the rapid deterioration of the patients’ conditions and the need for regular hospital visits, families may have little time to adjust to the situation or liaise with other families; therefore, supporting these families can be difficult. Nevertheless, some families of children with Gaucher disease Type 2 do seek emotional support during their child’s life and following their death.2


Genetic counselling for risk of Parkinson’s disease in patients with Gaucher disease Type 1 and carriers of GBA1 mutations

It is well established in the scientific literature that patients with Gaucher disease Type 1 and carriers of the disease have an increased risk for developing Parkinson’s disease (see neurological disorders).3,4 Over the past decade, information about this link has been reported by the mainstream media and is freely available online to patients.5 To ensure that this risk is communicated in a timely fashion to patients and in the correct setting, genetic counsellors and healthcare professionals will need to decide when to discuss the risk of Parkinson’s disease with patients who have Gaucher disease and also those who are carriers of the GBA1 mutation. It is also important to understand the reasons behind whether these patients want to be told of their risk.5,6

To assess whether there is a knowledge gap between the risk of Parkinson’s disease reported in the scientific literature and the counselling of patients with Gaucher disease, a survey of 125 adult patients with Gaucher disease Type 1 was conducted. Of these 125 patients, 80.0% (n=100) reported having known about the increased risk of developing Parkinson's disease prior to taking the survey. Most patients (87.0%) learned about the increased risk after their initial diagnosis, and 90.0% reported that they had made no medical or lifestyle changes based on this knowledge. When participants were asked what they felt was the ideal way, and when they felt was the ideal time, to find out about their increased risk for Parkinson’s disease, 83.7% of patients agreed that the best way to find out was from their healthcare provider, and 71.0% of participants agreed that the increased risk should be disclosed at the time of Gaucher disease diagnosis.5

In a US survey of prospective parents who were being carrier tested for Gaucher disease, those who screened negative for the GBA1 mutation (n=75) were asked if they would want to learn about their own risk for developing Parkinson’s disease (only non-carriers of Gaucher disease were surveyed, to ensure that participants would not learn unwanted information about their own health by taking part in the study).6

 

Of the participants surveyed, the following results were reported6:

  • None had been informed prior to carrier screening about the increased risk of Parkinson’s disease among carriers of Gaucher disease.
  • 93.3% reported that they would still have wanted to have been screened for all disorders, even if they had been given this information.
  • 86.7% either agreed or strongly agreed that prior to carrier screening for Gaucher disease, the increased risk for Parkinson’s disease should have been discussed with them.
  • 70.7% disagreed or strongly disagreed that only those found to be carriers of Gaucher disease should be informed about the link to Parkinson’s disease.
  • 82.2% disagreed or strongly disagreed that it is not necessary for healthcare providers to inform individuals undergoing carrier screening about the correlation between Gaucher disease and Parkinson’s disease.

 

Results from these studies suggest that genetic counsellors and other healthcare providers should consider the possibility of incorporating information about the risk of Parkinson’s disease into their counselling sessions with their patients with Gaucher disease and those who are carriers of GBA1 mutations.5,6

However, guidance from professional groups and researchers on how to inform patients about the link between Gaucher disease and Parkinson’s disease is limited. As such, there is a need to establish the knowledge, practice and comfort levels among genetic counsellors, healthcare providers and researchers regarding Gaucher disease and Parkinson’s disease. Further deliberations between clinicians on whether and how to discuss the full implications of carrier screening for Gaucher disease would be beneficial, as this would help establish recommendations for educating and counselling patients with Gaucher disease, and carriers of the GBA1 mutation, who are at risk of Parkinson’s disease.7

C-ANPROM/INT//7568; Date of preparation: September 2020