KMT2D- the ribbon that ties everything together

I’ve flipped back and forth on whether or not to invite the world into our newest news- not because we don’t want to share, but because the implications are far reaching for Liam though we (and most of the medical community) know so little about it. 

For those of you who’ve seen Liam in person, he has some distinctive features: arched brows, incredible hair, and elongated eyelids. These are classic identifiers of Kabuki Syndrome which is incredibly rare and is a multi-system genetic disorder. We have known from the start about many of these systemic anomalies, but with this diagnosis we finally have the missing thread that binds them all together. 

It’s such a rare disorder that our last specialist (at Duke) with years of experience said, “I don’t have any experience with Kabuki.” As you can imagine, that was not very reassuring. The funny thing is, most medical professionals we’ve spoken to say something nearly identical and we’ve been forced to send scientific papers and links to Liam’s team to get them up to speed. 

So, as good as it is to know why Liam has all these anomalies, it is incredibly frustrating to know that research on diet and potential treatments are barely in the animal phase, years from human trials, and specialists we have come to rely on are less informed on the condition than we are. At least, that’s true at Duke. 

Boston Children’s Hospital has a Kabuki Program where all affected specialities come together as experts in their field to treat their patients wholistically under the umbrella of Kabuki Syndrome. Naturally, we have set our gaze northward with an eye towards a visit in the Spring of 2020. 

Boston sounds like a dream: the answer to all our questions, but like all dreams, this one comes with a lot of hurdles. Insurance, of course, will be the biggest one and specialists at Duke are eager to help, but admit that it will be an uphill battle to receive approval. We have to convince Aetna that the care Liam will receive in Boston will be better than the care he already receives at Duke. Seems like a no-brainer, but it will require some extraordinary wordsmithing. Then there’s our work, managing the other kids (one of which will still be an infant), and travel costs. So many unknowns. 

But, as in all things these days, we are confident that our God is mighty and cares for Liam and that a path towards knowledgeable doctors can be found. We are tempted to “pound the pavement” on our own, to find our own solutions and make our own way, but while it is necessary to act, it is also imperative that we ask for help from a God who wishes to be called “Father.” So we do both and pray that doors are opened as soon as we knock on them.