As you consider whether or not your child should participate in the newborn screening for Duchenne muscular dystrophy, you may have questions. The following provides answers to the most common questions regarding the study. Click on each question to view the answer.
DMD stands for Duchenne muscular dystrophy. It is a severe type of muscle disease that has no cure and is often diagnosed in boys around the time they start walking or around the time they start school. Parents or physicians may think about this diagnosis because a boy has difficulty running, jumping, and keeping up with his friends. He may trip and fall a lot, or have trouble getting back up. He may also have some learning problems.
DMD is a rare disease and only affects approximately 1 out of every 3500 males.
Yes it is. It runs in families, usually on the mother’s side. However, about 1 in 3 cases happens in families with no other cases.
No. DMD is not a new condition.
This is a serious and fatal condition.
There is no cure for DMD. Steroids are currently the only medication that can slow down the need for a wheelchair. Other treatments are being developed through research.If there is no treatment for DMD, what is the benefit of being in this study (what is the point of knowing my son has it?) By learning of the diagnosis early, you and your son may be able to avoid a long and complicated series of doctor appointments and tests to figure out why your son seems to have a problem. Sometimes boys with DMD are put through serious tests to diagnose the problem. In addition, an early diagnosis will allow your son to receive the appropriate resources for his care and potentially prevent or minimize side effects associated with DMD.
This depends on whether or not the condition runs in the family. Approximately 30% of the time, the cases occur without a family history. Over 60% of the time, the mother may be a “carrier” of the condition. Carrier means that she probably does not have the same symptoms that boys have, but that she can pass the condition to her sons. She has a 50/50 chance for future male babies to have the disease and a 50/50 chance that female babies will be carriers, like her. In addition, other family members on the mom’s side may have a chance of having DMD as well.
Your doctor will receive a phone call from project personnel. Then, either your doctor or the project personnel will call you with the results. You will be offered an appointment with a Muscular Dystrophy Association (MDA) clinic so that doctors can check him and address any problems he may have. The doctors will talk to you about options to treat your son when he gets older. You will have access to support groups, physical therapists, and genetic counselors at the clinic as well. The project personnel will work with you and your family to make sure all of your questions and concerns are answered.
Your son’s physician will receive a copy of the results. However, you can choose for the results not to be released to the physician. In this case, you will be contacted directly via mail or phone with the results.
If you son’s testing results are inconclusive, your son’s physician will be contacted. Another blood sample from your son may be necessary to help interpret the results. Most of the time, the second blood test is normal, and we will think that the “false alarm” from the first test was from the stress of being born. Sometimes, inconclusive results mean your son does not have DMD but could have another muscle disease. If the second blood test is concerning, we may recommend that your son see a physician who specializes in muscle disease.
It may. While some boys have normal and even above average performance in school, some boys have learning problems and behavioral issues that affect their school performance. Your son’s doctor at the MDA clinic should be able to help you by referring you to the appropriate clinic for evaluation and management.
Usually boys who have DMD show symptoms as soon as they start walking (by age 1-2 years).
Unfortunately yes. But hopefully by the time he gets older, more options for treatment will be available.
No. This is a genetic muscle disease and there is nothing that you can do to avoid it.
Yes. You have until the baby is 2 weeks old to decide if you would like to have him screened for DMD.
There is not cost to you or your family for the screening. If your son is diagnosed with DMD, you will be responsible for the cost of his medical care.
There is no additional blood test. We are going to use a small amount of the blood that has already been taken for newborn screening testing performed on all babies born in Ohio.
No. We are asking many newborn boys in Ohio to have screening for DMD. If there is no family history of the condition, the chance your son has DMD is 1/3500.
A negative test means it is very unlikely that your son has DMD. This is a screening test, and it is possible that as many as 1/100 cases will not show up on a newborn screen.
Certainly. There are other resources that can perform this test and other doctors that provide care for muscular dystrophy. Your son is free to see another physician for a second opinion.
No. The blood and DNA from the blood is only used for this study and then discarded. If the project (or anyone else) were to use your son’s blood for any other reason, they would need to get your permission.