Table 2.
Description of the six levels of carrier risk disclosure
| Level of disclosure | Description |
|---|---|
| 1. Condition | Initial discussions about D/BMD usually started from a young age and were often prompted by their daughters’ questions regarding their brother’s symptoms or hospital appointments. The mothers tended to use gentle language such as ‘poorly legs’ or ‘muscles not working properly’. |
| 2. Genetics | The fact that D/BMD is an inherited genetic condition usually came a few years later. The mothers reported that they had instigated this conversation themselves and some had used diagrams to aid their explanations. |
| 3. Carrier risk accompanied by reproductive risk and the option of carrier testing | Five of the six mothers stated they had disclosed their daughters’ carrier risk at an average age of 10 years old. They had used figures to represent risk, such as ‘it’s 50/50, we don’t know which’. During the same conversation, they informed their daughters that carrier testing would be available as a blood test when they were older. They had also disclosed the potential reproductive risk but had not gone into further detail about reproductive options. |
| 4. Carrier test request | Deborah’s and Eleanor’s daughters subsequently requested carrier testing at age 12 and showed frustration at being told by their mothers that they could not be tested until they were age 16. Fiona’s daughters also requested genetic confirmation of their carrier status at around age 14. |
| 5. Reproductive options and carrier testing | Deborah’s daughter, Eleanor’s daughter and Fiona’s eldest daughter were seen in the Genetics Clinic between ages 14 and 16, following their mothers’ request for an appointment. Their genetic counsellor discussed the reproductive options for the first time during their appointment, and carrier testing was performed in all three cases. |
| 6. Life expectancy | Only one mother, Deborah, had discussed the reduced life expectancy with her son and daughter, as they had been aware of this since early childhood having been part of a family support group where many families had lost sons. |