At the CAHSAPI Meeting on November 10th 2006, Dr Eve Fernandez reported on the findings of the survey of parents launched at the CAHSAPI meeting in 2005. This survey has been continued through the last 12 months, with new families invited to participate, and everyone was most interested to hear the findings:
- Survey Population
- 31 parents responded to the survey, representing some 39 CAH patients.
- 38 had 21-hydroxylase deficiency; 1 had 11-hydroxylase deficiency
- 32 had Salt Wasting (SW) CAH (11 males and 21 females)
- 6 had Simple Virilising (SV) CAH (all female)
- age at diagnosis ranged from 10 days to 5 months for those with SWCAH (mean age 45 days) and 2 weeks to 15 years for those with SVCAH (mean 8 years; median 1 year)
- 28 of the 32 children with SWCAH were diagnosed through NBS (only 1 of 6 with SVCAH were picked up with NBS)
- ambiguous genitalia was a feature of all the girls at diagnosis, but the majority also had vomiting and failure to thrive; 9 of the 11 boys presented with vomiting.
- 7 siblings of children with SWCAH had died in the neonatal period
- 4 families had more than one child with CAH; 3 families had 2 children with CAH, and one family had 3 children with CAH.
44% of children were using Prednisone (this reflects period prior to CLAN's donations) - 41% of children lived in Manila - texting is the best means of communicating with families. Only 42% reported access to the internet. - the mean time to travel for consultation was 2.2 hours (range 30 minutes to 10 hours), and for travel for emergency treatment mean time was 45 minutes (range 15 minutes to 2 hours). - the biggest worries for families related to the need for lifelong treatment, the cost and availability of medications (over 25%); adrenal crises (over 25%); the child's development; and possibility of death - the biggest burdens were financial; accessing medicine; and the need for lifelong treatment - of the girls with CAH, only 6 had had surgery (5 of the parents were happy with results) - the biggest worries parents had for their daughters related to future marriage and reproduction (over 50%); growth, fertility and adrenal crises.
Dr Fernandez finished her talk with some suggestions for future plans in the Philippines:
- start a CAH Registry in the Philippines, and collect data about CAH
- Develop local books and resources on CAH
- Establish reliable availability of drugs
- Provide more information on CAH to families (website, newsletters, books and meetings)
- Christmas party next year for CAHSAPI
The doctors at PGH plan to continue collecting information from families, and in the future this Survey will be formally written up.
If you haven't shared your story yet, please do so! Check with the doctors at PGH next time you are there and request a survey form.