Last week we visited our geneticist to follow up after Sophie’s first round of genetic testing. The testing for Weidmann-Steiner Syndrome returned normal with no defect on the particular gene for that disorder. This was great news! Weidmann-Steiner can have other potentially serious heart defects, so we are relieved not to need to consider that in the future.
However, that left us with no new direction to consider for Sophie. So, our geneticist decided to present Sophie to the entire team of genetics doctors at the hospital to see if any of them had any ideas. This week I received a call that someone on the team suggested Coffin-Siris Syndrome, and our geneticist would like to test for it. This syndrome involves mutation of a different gene than Weidmann-Steiner (we have 23,000 genes in our bodies, making this search literally like a needle in a haystack). Like any other syndrome, it can have a profound affect or a mild affect on the child’s health and development. In addition to differing physical features (some of which Sophie may have and some she does not), speech delays, mild to profound intellectual disability, and low muscle tone, it can also indicate kidney problems. That fact alone makes it worth testing for.
We’re not on some hell-bent quest for answers. We’re not looking for a named syndrome to suddenly make it all better. But we are trying to be wise about Sophie’s future. If there is a genetic mutation, it is possible that internal organ systems can be affected, and that is something to be aware of and prepared for. So our search will continue. God bless BCMH for their financial assistance.
I confess that conversations like these with special doctors always make my heart bleed a little bit. I don’t like the scrutiny that my beautiful girl comes under (even with doctors who have the best of intentions) for her physical features, which I feel are just perfect. It’s hard to consider the possibilities that the future holds. It’s hard to talk about the areas where she is lacking. It feels unfair… because we are all lacking in some way… so why are her ways so important to look at under the microscope? I tell myself all the time when I catch myself thinking I just want a “normal” life for Sophie, what IS normal anyways? Which one of us is perfect without anything “abnormal” in our lives? I tell myself, she will grow up just fine. I want to believe that. With all my heart I do. But sometimes heart is just not enough and doubts creep in.
But faith… faith is enough. And I hold on fast to these words: “‘For I know the plans I have for you’ declares the Lord, ‘plans to prosper you and not to harm you, plans to give you a hope and a future.'” Andrew and I chose this verse as the text for the sermon at our wedding, along with another well-known passage: “Trust in the Lord with all your heart and lean not on your own understanding; in all your ways acknowledge him, and he will make your paths straight.” So sweet how these verses have stood with us through so many trials over the 14 years that we’ve been together, a constant reminder that God is directing our steps with all goodness and love. With every difficulty we encounter, he meets us with grace, strength, and truth to carry us through.
We really appreciate continued prayers for wisdom on the part of Sophie’s doctors and for her continued growth and development. If anyone feels led to pray about potty training, I will share my mansion with you when we get to heaven.