List of rare diseases in Australia
Only one child, whose parent had been diagnosed with the same disorder, was diagnosed before birth. Two (7%) children were diagnosed at birth, 9(30%) before 12 months of age, 9(30%) between 12 months and 3 years of age, and 9(30%) at 4 years of age or more. The majority (73%) of families reported that symptoms or signs of the disease began before the age of 4 years. Eleven (38%) children had seen 3–5 doctors and 4 (14%) children had seen 6–10 doctors before receiving the correct diagnosis. Five families (17%) reported that their child had initially been given a wrong diagnosis. Twelve (43%) believed their child’s diagnosis could have been made earlier, citing reasons such as lack of knowledge by health professionals about the disease, and unavailable or delayed testing.
Twenty-three (77%) families were ‘very satisfied’ or ‘satisfied’ with the way in which they were informed of their child’s diagnosis, while 3 families were neither satisfied not dissatisfied. The 4(13%) families who were dissatisfied with the way the diagnosis was given cited reasons such as an insensitive style of communication, no offer of support or counselling, and inadequate provision of information about the disease (Table 3).
Table 3. Examples of comments about the way the diagnosis was given to families
The median score on the RAHC MOF was 4 (some difficulty in a single area). Eleven (37%) children scored 1 or 2 (superior or good in all areas), 3 (10%) scored 3 or 4 (slight problems or some difficulties), 12 (40%) scored 5 or 6 (variable problems in some areas or severe problems in at least one area), and 4(13%) scored 7 or 8 (major problems or unable to function in almost all areas). No child scored 9 or 10 (needs nursing supervision).
One child had a cochlear implant, two used hearing aids, five had extremely poor mobility (‘unable to control or use arms or legs’) and eight used a wheelchair. Families with children aged over 5 years (22 of the total 30) were asked more detailed questions about health functioning. Fifteen (68%) of the 22 had pain or discomfort, and one child had severe pain not relieved by medications. Eight (36%) reported impaired abilities in speech, hearing and communication.
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Are you aware Catamenial Pneumothorax has been added to the rare disease list at the NIH?
Catamenial Pneumothorax is caused from endometriosis on the lung, which causes the lung to collapse.
Thank you for helping to bring awareness through your book and your internet posts to this form of Endo. The more the words gets out, the better. Keep up the good work.