If your child has been struggling with physical activity or developmental delays and is subsequently diagnosed with Duchenne muscular dystrophy (DMD), the news might come as a shock.
In the midst of a challenging time, you may wonder if you should get a second opinion. While it is always your right to seek a second opinion with a different doctor, here are some points you may want to take into consideration before making an appointment.
Understanding how a diagnosis of DMD is made
First, it’s helpful to understand how a diagnosis of DMD is made, and how this may differ from the diagnostic process of other diseases.
A diagnosis of DMD often takes multiple stages. In the beginning, doctors are likely to conduct physical examinations and carry out blood tests to find out if there are more common causes to your child’s symptoms. Doctors may also request that you provide a detailed medical history of your child in order for them to pick up on possible clues to the root cause of their symptoms.
Read more about DMD testing and diagnosis
The most important test for DMD is genetic testing. This is because DMD is driven by mutations in the DMD gene; when present, these mutations confirm that your child has DMD. DMD is inherited in a specific pattern known as X-linked inheritance: Since the gene is located on the X chromosome, males only have one copy of the DMD gene and will develop DMD if that gene is faulty.
In addition to genetic testing, doctors sometimes carry out a muscle biopsy to test for dystrophin levels. However, it is important to note that genetic testing alone is conclusive, regardless of other signs or symptoms. In fact, a child can be diagnosed with DMD based on genetic studies alone, even if the child does not yet display any symptoms at all and appears healthy.
This differs from the diagnostic process of other diseases, which may be far less specific and more speculative than a diagnosis of DMD. For example, if your child presents with a runny nose and cough during cold season, doctors will likely diagnose them with the common cold based on just their symptoms. A DMD diagnosis, on the other hand, is made after genetic confirmation. Unless a mistake was made during genetic testing —which is a very rare occurrence — the diagnosis will be correct.
Seeking a second opinion
Some parents still choose to get a second opinion because they will feel better having a second expert confirm the diagnosis, which is understandable. If you have the resources to seek a second opinion and want this certainty, by all means do so.
If your primary concern is less about the validity of the diagnosis and more on questions you have about DMD, you can bring these questions to your child’s doctor. They will be able to offer more explanation, information and answers. Alternatively, your doctor may refer you to a genetic counselor, a pharmacist, a child psychologist, or an occupational therapist to provide you with more specific details about DMD and the help available for you and your child.
While a diagnosis of DMD can be devastating news, the journey ahead doesn’t need to be a lonely one. There are many resources available to help your child thrive despite this diagnosis. Furthermore, ongoing clinical trials mean that new therapies may be made available in the future. During times like these, it is important to remain optimistic and hopeful, even as you navigate the news of a diagnosis of DMD and make the necessary life adjustments for the years ahead.
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