Yesterday we received a letter from the geneticist summarizing our recent appointment with him and recommending specific genetic tests for Lil Z, focusing on her MECP2 and CDKL5 genes. We’ve received dozens of letters like this since we started down the road to a diagnosis. However, this one actually made me feel good, and it wasn’t because we may be getting closer to a diagnosis.
Since Lil Z was 6 months and referred back to a paediatrician for assessment, I’ve been reminded constantly what is wrong with my daughter. She has global developmental delay, she has seizures, her head isn’t growing at the rate it should, her brain isn’t developing as it should, she has a visual impairment, she is socially and cognitively delayed, she has no purposeful hand movements, she has no protective reflex, she has poor core strength, she struggles to track and follow, she is unable or unwilling to bear weight through her hands or feet, she has silent aspiration, she is unable to eat lumpy or solid food, she obsessively wrings her hands and scratches at her ears, and she has dysmorphic features.
I know all these descriptions are accurate and necessary when writing up her medical reports. However, she’s still my baby, I love her and I don’t like to see her reduced to nothing but a list of problems. Imagine if parents of a “normal” child were subjected to this when visiting the doctor:
Well, Mrs Jones, we’ve given your son a check-up and feel obliged to point out that he’s a bit slow to walk, isn’t he? I bet all his little friends are walking, but he’s still content to crawl. It might indicate he’s lazy. You might want to consider doing something about that. And I noticed he cried a lot when I gave him the injection. Obviously he’s a bit of a Mummy’s boy, might grow up unable to cope in the real world, probably never form a meaningful relationship. I can’t really understand what he’s saying yet. Granted he’s only one, but that could be a problem in the future if he doesn’t learn to enunciate better. And his facial features, well, let’s be honest, he’s not going to be the best looking boy on the block.
OK, so that may be a bit of an exaggeration, but the point is that no one likes to hear negative things about their child. And when you have a special needs child, it seems like that is often all you hear. Which is why I enjoyed the letter from the geneticist, who of course detailed her medical issues, but also commented on her long and crazy hair, the fact she’s able to roll and smile, and said that her gross motor skills were better than he was expecting. He also suggested that we set a long-term goal of helping her to walk. And he declared that her facial appearance was “unremarkable” – in other words not dysmorphic at all. Although I know nothing will change that Lil Z is absolutely adorable, dysmorphic or not, it was nice to actually remove that awful label from the list.