This disease can be tough for patients and their families. XP patients tend to get sunburnt very easily and are psychologically affected by the burnt skin and turn out being very photo-sensible people. Patients also are psychologically and physically impaired by the fact of always having to stay indoors, not having the opportunity to enjoy outdoor activities during daylight. That’s why some companies have developed and are developing products to fully protect the skin of these patients.
The basic preventive measure for people with XP is avoiding as much as possible solar exposition to the skin with protective sun cream or complete physical protection such as long sleeves shirts, completely covered head hat with transparent protected skin, sunglasses, gloves or even an umbrella. Patients must take special care of sensitive places like eyes and eye-lids. With the correct medical, psychological and social groups support, these patients and their families can find good ways to adapt to this condition to diminished the impact, importantly when children.
It may be necessary at some point for XP patients to need the palliative care team included in their case. Palliative care is an interdisciplinary approach for people with life-limiting illnesses. It focuses on providing relief from the symptoms, pain, physical stress, and mental stress at any stage of illness. The goal is to improve quality of life for both the person and their family.
Palliative care is provided by multidisciplinary team of physicians, nurses, physiotherapists, occupational therapists, speech-language pathologists and other health professionals who work together with the referred specialist to provide additional support. It is appropriate at any age and at any stage in a serious illness and can be provided as the main goal of care. Although it is an important part of end-of-life care, it is not limited to that stage. Palliative care can be provided across multiple settings including in hospitals, at home, as part of community palliative care programs, and in skilled nursing facilities. Interdisciplinary palliative care teams work with people and their families to clarify goals of care and provide symptom management, psycho-social, and spiritual support.
Medications and treatments are said to have a palliative effect if they relieve symptoms without having a curative effect on the underlying disease or cause.
Further information and resources are available at our curated content for Paediatric Palliative Care.
Pregnancy in XP
The systemic retinoids that might be used in women with XP are known to be teratogenic. This means that they have a high risk for birth defects when for the developing foetus. Therefore, women who are using systemic retinoids should be appropriately counselled about pregnancy risks, regular monitoring with pregnancy tests is indicated during treatment. Pregnancy avoidance is initiated before therapy, continues during therapy, and extends post-treatment until the drug is cleared from the body.17
If a tumour has appeared and it needs to be treated, depending on its localization, it might be considered to apply a fertility preservation method. If needed, different ways of preserving the fertility in children is available for girls and boys and was recently established by the ASCO (American Society of Clinical Oncology) in 2018. An adapted version for patients can be found here.
Finally, if there is a case of XP in the family or it is suspected to have the recessive mutation in one of the alleles, genetic counselling should be asked to your doctor.