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FRACTURES

Like other children, boys with Duchenne may fracture (break) an arm or a leg. If this should happen, notify the team that normally cares for your son as quickly as possible. Immobilisation for long periods of time, particularly in plaster casts, should be avoided as muscle strength once lost, cannot easily be regained. Boys who are on steroids should have their bone density checked at regular intervals (by a DEXA scan) as steroids can cause thinning of the bones, making fractures more likely. Do not unduly restrict the physical activities of a young child (as play is very important) but as your son gets older the risks need to be reevaluated. Some situations (for example, school playgrounds) may be more risky environments than others but, as mentioned earlier, inactivity should also be avoided!

SPINAL SURGERY

Spinal surgery may or may not be an issue during the primary school years. Spinal surgery may be offered to boys with Duchenne if they develop a scoliosis (a sideways curvature of the spine).This usually only becomes an issue once boys have stopped walking and standing. Usually the most effective way to manage scoliosis is through spinal surgery.This is complex surgery that requires a skilled and experienced surgeon and anaesthetist. If spinal surgery is being considered it is vital that you and your son have all the information that you feel you need to make the decision about whether to go ahead with the surgery, and that you are aware of the after care that will be needed. The Muscular Dystrophy Campaign publishes information on spinal surgery (and the questions to ask when it is being considered) but the surgeon and his/her team should always be fully consulted. Your son will be taller after surgery (this has implications for wheelchair accessible transport),may have different seating needs, will not be able to be manually lifted (a hoist will be essential) and will not be able to bend to reach food. A high table or mobile arm support (a device that supports the arm) are often helpful at this stage. our son’s occupational therapist can give advice in this area. If spinal surgery is not considered appropriate, or a family decides against it, ensuring that a person has comfortable and supportive seating is vital. In some cases spinal jackets may be used but there is little evidence that they are helpful for boys with Duchenne.

DIET

There is no evidence that a primary school age child with Duchenne benefits from a special diet. The important thing is to establish a healthy eating pattern that will maintain their weight within the normal range. Try to avoid giving in to requests for fatty or sugary foods too often as excess weight will make walking harder for your son, and will make moving and handling more risky for you. Some children put on extra weight when taking steroids and this needs to be monitored. As your child becomes less physically active he will require fewer calories and his intake should be adjusted accordingly. Ask your child’s consultant for advice or for a referral to a dietician if you require guidance in this area.

ALTERNATIVE THERAPIES

Sadly there is no evidence of any alternative therapies proving helpful to a child with Duchenne. Some non-invasive therapies may be pleasant and relaxing but seek guidance from your child’s specialist first. You should avoid expensive “treatments”, invasive alternative therapies or trips abroad which promise cures. Remember that research into Duchenne is well co-ordinated internationally and your child’s specialist will be pleased to share with you any advances that are made. The Muscular Dystrophy Campaign publishes a factsheet on alternative therapies which gives further information.

GENETICS

There may be a known family history of Duchenne but if not, most parents will want to know how their child came to be affected.Duchenne is caused by a fault on a gene on the X chromosome. Females have two X chromosomes, males one X chromosome and one Y chromosome. If females have the fault on one of their X chromosomes it does not usually cause them any difficulties because they have an unaffected one as well. With males this is not the case. So, in Duchenne muscular dystrophy, we talk about women being carriers and boys being affected. (If a woman is definitely a carrier of Duchenne she has a 1 in 4 risk in each pregnancy of having a child with Duchenne.) It is also possible for Duchenne to occur as a result of a new change in the gene of the boy himself. We call this a “new mutation”. It is possible to undertake testing to try to establish if a person is a “carrier”of Duchenne – this is usually offered as part of the genetic counselling process. If you do not wish to be tested this wish will, of course, be respected. Some people may choose to wait a while before considering whether they wish to find out if they are a carrier. Genetic counselling is about giving you the information that you require (about the risks of future pregnancies being affected) to make the choices that are right for you. It is not about telling people what they should do. It is important that you are offered genetic counselling at an early stage. This is especially so if you are planning further children and/or you are a female with a female relative in this position. If you have not been offered this service, speak to your son’s consultant about it. If a woman is a carrier then her daughters have a 50:50 risk of also being carriers. Clinical genetics departments do not usually offer to test young girls to see if they are carriers because there is nothing to be gained from having this information, and it is a decision a girl can make for herself at a later date (usually after the age of about 15 but sometimes earlier, depending on personal circumstances/wishes). If you are a carrier with a teenage daughter do explain to her that she can get advice in her own right when she is ready.