A Seat at The Table

“It was nothing you or your husband did. There’s nothing you could have done to prevent this.”

I didn’t hear anything else after that. 

We got the phone call on May 18th that we hoped we weren’t going to get. It was our genetic counselor calling to give us the results of Luca’s whole exome sequencing test that discovered an abnormality in one of his genes. 

She explained that he has what’s called CTNNB1-related syndrome, which is an extremely rare neurological disorder (less than 200 people in the world have been diagnosed!) that affects many aspects of life including physical and intellectual development. This is caused by a deletion, partial deletion or mutation of the CTNNB1 gene. This gene provides instruction in the body for creating a protein called beta-catenin, which is found in many cells and tissue throughout the body. 

A week and a half later, we had a follow up appointment with Luca’s geneticist to talk more specifically about this variant, what it meant and what we could expect going forward. 

He explained that the variant Luca has is a deletion that neither Corey or I carry and is predicted to remove a splice-site in his DNA. I won’t do it justice trying to explain what that means, so if you’re curious about what exactly RNA splicing is, there’s a great video here. 

He went on to explain that when Luca’s DNA was being developed, the process of RNA splicing was disrupted. And because the proteins in our bodies are so vital to the production of our cells and organs, it can cause some havoc if these splice-sites are disrupted. 

Many of the symptoms of this rare disease are delayed or missed physical milestones and intellectual delays. So far what we’re seeing for Luca is aligned with many of the other people with this same syndrome. He’s not sitting on his own yet, not crawling or walking yet and he isn’t verbally communicating. He’s also experiencing sensory reactions to certain foods, loud noises and touch that we’re working through. 

Our geneticist shared some study data with us based on 15 other people with a similar deletion to Luca. The people in the study ranged from 3-years-old to 27-years-old and were from all over the world. A common thread amongst the people are delayed physical milestones like walking, which several started to do around the age of 4 and the majority with the help of a gait trainer. Some of the people spoke a few words, while others remained non-verbal. Most had microcephaly, which Luca also has. 

With so few people across the world with this syndrome and most having such a wide range of abilities, it will be hard to pinpoint exactly what life will look like for us. We left our genetics appointment with a “we’re just going to have to wait and see” mentality. 

When I first learned of Luca’s diagnosis, I had this vision of Corey and I sitting alone at this long, wooden table. We were crying and felt so isolated from the rest of the world. We were grieving our future, knowing it would be much different than “the norm” and how we thought it would be. This table represented this diagnosis and our new life. 

This is not a table I thought we’d ever be sitting at, but here we are. But as each day goes by and I learn more about this diagnosis, I’m beginning to see the table getting longer and longer with others sitting at it too. 

I see other parents whose children were also diagnosed with this rare disease, clinging to each other for hope and comfort. I see the other children who have this diagnosis. Beautiful, wonderful, magical beings that are defying the odds and living happy, amazing lives. I see my family and friends pulling up chairs right beside us, holding our hands and wiping our tears. I see our friend’s kids sitting right beside Luca, giving him high fives in a way that actually says, “I’ll have your back for the long haul”.

I know that this is still just the beginning of our journey and we have so much to learn, but I know I’m not alone at this table. This table now represents hope and beauty and I’m looking forward to meeting other parents sitting beside us. And I’ll be the first one to pull out a chair for the parents who follow us and welcome them in.