*Medical Student, ANU
I would like to share a reflection on the topic of X-linked recessive diseases and their impact on the mothers of affected children.
X-linked recessive diseases include haemophilia, Duchenne Muscular Dystrophy (DMD) and Charcot-Marie-Tooth (CMT) disease. In Australia, there are approximately 14,000 cases of haemophilia, DMD and CMT combined1-3. Inheritance patterns in these diseases are complex and are not inherited exclusively as X-linked recessive diseases; up to 30-33% of cases of haemophilia and DMD are due to new spontaneous mutations while the majority of cases of CMT are of autosomal dominant inheritance2-3. During my clinical attachments this year, I met several female patients who had sons born with a disease inherited in the X-linked recessive mode. This inheritance pattern and its impact on the emotional state of the mothers is the focus of this article.
During consultations with mothers whose children were affected by X-linked recessive conditions, I could not help but sense notions of responsibility, or perhaps even self-blame. I wondered about the emotional turmoil that these mothers must experience. With the disease being inherited in an X-linked recessive manner, the mothers were generally unaffected, healthy and in almost all cases, unaware of their carrier status. While it is well established that these diseases are due to genetic mutations beyond human control, it is also the unfortunate fact that the affected children were born with an illness that was, in effect, transmitted through the mother. It may be such a view that could create an emotional burden.
There is limited research specifically assessing mothers of children with X-linked recessive conditions. A study by James and colleagues in 2006, found that X-linked recessive inherited diseases have greater psychosocial consequences than diseases with other inheritance patterns4. Mothers were more likely to feel guilty and blame themselves, whilst fathers blamed the child’s mother and the mothers sensed this blame4. Other studies found that where there was no family history or personal experience of the condition and when genetic responsibility is linked to one parent, then the feeling of guilt is more likely5-6.
It would not be unreasonable to predict that these feelings of guilt and self-blame may place the mothers at greater risk of mental health illnesses. One study analysed the mental health status of parents of children with childhood X-linked adrenoleukodystrophy and found that mothers were significantly more likely to be depressed and anxious than fathers. There appeared to be a differential distribution of mental ill-health between fathers and mothers of affected children. More than half the mothers were moderately to severely depressed, with younger mothers tending to have the most severe depression7.
Considering the inherent nature of the transmission of X-linked recessive diseases, the reality is that the mothers may always carry some level of responsibility regardless of what others may counsel. One of the goals of consultations should be to reduce these feelings of responsibility. The approach to consultation with these mothers must take a psychosocial focus,and should employ a multi-disciplinary team approach involving clinicians, mental health professionals and genetic counsellors.
Clinicians, particularly primary care physicians, must take an active role in leading the team approach. They are in a unique position with an established trust relationship with the patients and have a greater understanding of their social background8-9. They generally have frequent contact with the family and are thereby able to monitor progress over time8. They are also able to promote family planning practices.
Mental health professionals will be experienced in addressing the psychological aspects surrounding the feelings of responsibility.Merely giving the opportunity for the mothers to express their emotions may help unburden them10. Husbands, family members and friends should be encouraged to support the mothers.
Genetic counsellors can play a particular role in education.It should be ensured that the mothers and fathers understand the specific disease, concept of genetic disorders and the different modes of transmission. Such education may have many benefits; it can demystify false beliefs and improve the understanding of the impact of the disease on future pregnancy11 while concurrently reducing the emotional burden on the mother. The use of medical genealogy and pre-conception counselling by genetic counsellors may also prevent the perpetuation of the disease9.
During consultations, appropriate wording must be used to ensure that there are no associations between the disease and the mother. A personal anecdote identifying what not to do was the statement: “Being an X-linked disease, did you [the mother] know that you were a carrier, or was there a family history of haemophilia on your side?” This seemingly harmless question may conjure up feelings of responsibility for the disease and such repeated statements from family and friends may only validate feelings of self-blame. An alternative and more appropriate statement may have been: “Being a genetically transmitted disease, is there a history of haemophilia on either your or your partner’s side of the family?”
Mothers of sons with X-linked recessive diseases are a unique group of people who are at risk of mental health illness arising from feelings of responsibility in the form of guilt and self-blame. These feelings must be addressed carefully by clinicians by focusing on the psychosocial needs of the mothers through a multi-disciplinary team approach.