Our Journey with Genetics by Angela Uncles
Updated: Jun 30
My daughter Lumina Jubilee was diagnosed with Walker-Warburg Syndrome--the most severe form of congenital muscular dystrophy--in utero at 21 weeks. She is now 4 years old and she has Walker-Warburg Syndrome. Maybe. We are not really sure anymore!
As a family, we have just begun our journey with genetics recently, after years of working with a diagnosis based on physical study of Lumina’s brain structures and clinical presentation. We were told funding for genetic study was not available for her case at the time she was born, and that the doctors were satisfied with their conclusion. And, so was my family. Well, as satisfied as a family can be when loving a child expecting early death. Walker-Warburg syndrome has an expected lifespan of less than three years. Satisfied is not really the right word for receiving this kind of information. There was nothing to do but accept and move forward living each day like it may be the last. I have been basking in all the love and sweetness that is Lumina Jubilee for the past four years.
Then last summer, my husband and I took the opportunity to go to the Cure CMD family conference in Chicago. What a great opportunity to connect with our Walker-Warburg/Muscle-Eye-Brain family as well as other families from all over the globe! At the conference, we learned so much more about the genetics around the dystroglycanopathies, and we also learned that there is interest in studying kids like Lumina to find out more about their genes and how gene therapies may help them.
Suddenly, we were very interested in pursuing a more accurate, genetic diagnosis for Lumina. We were filled with a HOPE that there could be change and opportunity for Lumina--and if not her, for generations of our precious children to come. Thanks to a connection we made at the Cure CMD conference, Lumina’s genetics testing is underway and we have the opportunity to also be a part of a whole genome study.
Our first round of genetic testing came back, and it was inconclusive. Lumina did not test positive for any of the genes associated with Muscle-Eye-Brain disease! This was a smaller panel investigation which focused on 91 muscular disorders. We are still waiting back on the whole genome study, which will hopefully provide more information since Lumina, her dad Dwayne, and myself all got tested.
Right now, I don’t know what to think. Nothing has really changed, since Lumina still has a WWS diagnosis attached to her. Prior to Lumina’s birth we connected to an amazing community of other parents who also have children with this syndrome. We like to say that we are a family and these are some of the people we have truly connected with in the darkest times of our life. Thinking about a new diagnosis for Lumina and other communities we might join in response to new information, if any... these thoughts are so bittersweet, even though I know a diagnosis change would not alter our WWS/MEB relationships. In any case, I am filled with curiosity and excited to have this journey underway, and to hopefully have some more answers in the near future.
I would like to pose a question to my Cure CMD community: Have you had your child’s diagnosis, or your diagnosis change due to genetic testing? What was your experience like?