May I ask a friend or family member to help me, either while deciding to participate or while participating?
Of course! Candidate participants may want to discuss the possibility of enrolling in this study with a support person. It is also a good idea to discuss this option with a physician and/or genetic counselor. It is not necessary to come to Boston to participate in our study. Families can choose a blood drawing place that is convenient and may want to bring a friend or family member with them that day.

What will happen if I decide to withdraw from this project?
our participation in this study is voluntary. You should not feel any pressure to participate. You are free to withdraw from the study at any time without any adverse effect on your or your familys medical care. Declining to participate or withdrawing your participation will result in no loss of benefits to which you are otherwise entitled. There may be scientists at other institutions doing similar research on neuromuscular disease. You are free to enroll in other studies in addition to or instead of this one.

Why does the Beggs laboratory need blood samples from members of my family who do not have the disease?
There are a few reasons why we ask for blood samples from unaffected family members as well as from individuals who have a congenital myopathy. One reason is that when we find a genetic alteration in the patient, testing family members who are not affected helps us determine whether it is really the cause of the disease or just a benign variation in the family. Looking at DNA from family members can also tell us how the disease is inherited.

In large families where there are several individuals who have the disease, we may be able to find the gene involved using a powerful method called linkage analysis. Linkage analysis is one of the most popular methods used to determine the location of a disease-causing gene. Linkage analysis allows identification of a piece of DNA that is inherited by all family members affected by the disorder being studied, and is not inherited by any of the unaffected family members. This piece of DNA can be compared to a "sign post", suggesting that the gene that is causing the neuromuscular disease in the family may be close by, or linked to the gene of interest.

This is why we need blood samples from both affected and non-affected family members. For linkage studies, we ask for blood samples from as many closely related family members as possible. The more people who participate, the greater the chance we will find a gene change as the cause of the condition in the family.

What happens if the Beggs lab needs to have other family members involved in the study?
We will contact you directly to discuss the possibility of having other family members involved. We may ask the participant to tell other family members about our studies. If other family members are interested in learning more about our project, they can contact us and we will be happy to talk with them and answer any questions they may have.

Will special services be available for me if I need them (e.g., interpreters, Braille, child care)?
Consent forms are available both in English and Spanish. If the patient is not an English speaker, we can arrange to have an interpreter if the patient comes to this hospital for a blood draw. Braille and/or child care services are not offered.