The CARE Study:
Join the effort to find the genetic causes of this birth defect.
By Dr. Wendy Chung, Chief of Pediatrics, Boston Children’s Hospital
You may have asked yourself the following questions: Why was my child born with a laryngeal cleft? What caused this? What will the future hold?
To a certain extent, every child is different and the answer to these questions may be different for each child with a laryngeal cleft. Your doctors may have been able to provide some answers, but perhaps not all the answers. Because we are doctors taking care of patients with a laryngeal cleft and other related conditions, we want to find answers to your questions and need to perform research to learn about what we don’t yet know.
One possible explanation is related to genetics. Genetics may not have all the answers for all individuals with a laryngeal cleft, but it likely will provide some information for some people. It’s for this reason that we are starting the genetic study of laryngeal clefts in collaboration with Laryngeal Cleft Network.
The following questions were answered at a recent live CARE Study webinar:
How often do you expect to find a genetic cause of laryngeal cleft?
I actually don't know the answer to that very simple question. That's why we're doing the research. If I had to guess, I wouldn't be surprised if it’s 10% initially. I think that's going to be the minimum and I think we're going to go up from there. It may be that as we go on it becomes 20%, and then goes up to 30%. The more people that we have doing this together, the higher that number goes up, because we start seeing connections between individuals, between families. We start seeing the same gene that's involved not just in one family from Iowa, but we see another family from Missouri, another family from Wisconsin, another family from Texas.
How many genes could be involved?
I don't expect there to be just one gene for laryngeal clefts. I actually expect that there are going to be probably dozens of genes, and each gene may have different answers to these same questions. So that is different information about prognosis or what to expect, different information about implications for family members. We hope that we can provide not just one answer, but actually answers that are tailored for each of you.
What happens if you find a cause in my/my child’s genes?
If we do find what we think is the genetic cause of the laryngeal cleft in your family, we're going to give you a call and email to talk to you about what that means. And you'll get a clinical test report so that you and your doctor can use that information for your clinical care. You shouldn't need your doctor to order an additional genetic test. If you get a positive result, you'll get a clinical report that says that.
What happens if you DON’T find a cause in my/my child’s genes?
If we don't find the answer, we are going to keep looking. We're not going to give up. As more and more families come in, we're going to keep reanalyzing that data. We expect we'll do it probably once a year. So even if you don't hear a positive result from us right away in that first three to six months, we'll continue looking. As long as we know where to find you, even if it's two, three years from now, we'll continue to reach out when we have that information.
If I have a child with a laryngeal cleft, what is the likelihood of having another child with it?
That is dependent on your family history and your own personal circumstances. If you have a family history where there's more than one person with a laryngeal cleft, we need to handle that on a one-by-one basis, but that risk could be as high as 50%. We know that based on looking at some other congenital anomalies for individuals, where there's no family history, the chance of it happening again is likely much lower, but likely not zero. Probably less than 10%, maybe even less than 1%, but I don't know until we do some more of this research to get the answer to that question.
How can my family get involved?
The Congenital Anomalies Research & Exploration (CARE) Study is currently enrolling interested families. This research study is free of charge and can be done from your home.
You can sign up for the study by emailing ChungGeneticResearch@childrens.harvard.edu. Please include “LCN Research” in the subject line.
The study team will send you an electronic consent form and ask you to complete several short surveys online. After all surveys are completed, saliva collection kits will be mailed to your home. Once you provide saliva samples and send them back to the study, we will complete genetic analysis and call or email you with the results. It will take up to six months to receive the results of your testing.
Is there an age limit to enroll?
Anyone of any age is eligible to enroll. It doesn't matter when your diagnosis was made. Even though it might not have been made until later, it was undoubtedly present earlier and your genes really are not changing appreciably over your life course.
How can I find out more?
Check out LCN’s CARE Study page or email ChungGeneticResearch@childrens.harvard.edu.