Unfortunately, some children develop speech and language and/or learning difficulties, especially in maths and science. We are not entirely sure whether this is because of some damage which may have occurred in the womb (this is no fault of the mother), or whether it is because all of us make a small amount of galactose in our own bodies. This then affects the brain but does not cause the liver disease to recur.
There is no way of preventing this at present. The speech and language difficulties consist mainly of problems with organizing speech and the term used for this is oromotor dyspraxia. There may also be a problem with movements which is called motor dyspraxia. This leads to slowness in completing tasks.
There seems to be no clear association between how ill your baby was initially or how quickly the diagnosis was made and the chance of developing these neurological difficulties. We do not understand why one child has more problems than another. Although we cannot undo these difficulties, by picking them up early we can try to minimise the effect they have on your child’s education and social interactions. For this reason, assessments will often be carried out if there are any worries.
In addition to these neurological problems, galactosaemia can affect the ovaries. Many girls do not go into puberty at the right time. This is because their ovaries do not produce enough of the hormone oestrogen. All girls are kept under regular review and, if necessary, puberty can be started by giving them some oestrogen (to replace the hormone that their ovaries are not making). This is done slowly and carefully so that puberty happens at the same speed as for girls that enter puberty naturally. Some adult women have regular periods without receiving hormone treatment but most women continue to need oestrogen replacement (usually in the form of the oral contraceptive pill). Some women with galactosaemia have had babies (who are completely normal) but unfortunately, most women with galactosaemia are infertile or have reduced fertility. There may be ways of getting around this in the future but even now women can have babies by IVF using donor eggs. You will be kept up to date with any new information on fertility treatment.
Possibly related to the hormonal problems, but also due to the diet, older patients may develop osteoporosis. As dietary factors are important, boys can be affected by this just like girls although it is likely to be milder. Calcium supplements and regular exercise will minimize the risk. Again, this is something that will be monitored and will depend on the calcium intake.
None of these problems are life-threatening and galactosaemic children are otherwise as healthy as any other child provided they continue on their galactose-free diet throughout life. In the future, we hope that research will lead to better ways of preventing some or all of the long-term problems in galactosaemia.