Unlike your family doctor, the professionals at the MDA Clinic see a lot of people with DMD and other neuromuscular diseases. That does not mean that they all necessarily follow the same protocols for diagnosis and treatment. They do what they personally consider to be the best for your child. So what they come up with is not a law lasered in granite; there is no one standard treatment for DMD. They are open to your suggestions.
The reason why I am hammering on this is because there is a diagnostic test that will determine with 99% accuracy whether or not your child has DMD. The test has been around since 1986, but some people are quicker to take up innovations than others, and the people at your particular clinic may not have used it yet.
That test is called a "needle biopsy". What happens is that a small sample of muscle tissue (something the size of a grain of sand) is taken from your child's thigh. It is quick, it may require no more than a local anesthetic and a friendly lap to sit on, and it leaves a minimal scar. The piece of tissue is used to determine whether it contains any dystrophin. Only people with DMD do not have any dystrophin in their muscle tissue. So if your child has DMD, this test will unequivocally pin the diagnosis down.
It is not easy to stand up to a medical specialist. If the doctor you are seeing is conservative, he may want to do other tests. But if you have been told that DMD is a likely possibility, refer your doctor to the article by Hoffman et al., ask him to get in touch with professionals at other MDA Clinics, or go see your Patient Services Coordinator. You may also have to find a surgeon who is willing to do the procedure.
(The article reference is: Authors: Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, Harris JB, Waterston R, Brooke M, Specht L, et al. Title: Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy In: New England Journal of Medicine, 318:1363-1368, 1988)
If all else fails, get in touch with me: I know at least one surgeon who has done a needle biopsy (the one who did it on my son), and one lab that analyses the tissue (the people who pioneered the procedure). There must be many more, but I don't have the statistics about how often a needle biopsy has been used in the last couple of years, and where.
