Au-Kline Syndrome, the Facts

The last post was all about my emotional reaction to finding a diagnosis. This one covers the facts. You may have searched online for AKS. If you did, you found a small handful of short descriptions that all say the same thing: facial dysmorphia, intellectual disability, hypotonia (low muscle tone!), and a host of medical complications – heart and renal problems, skeletal problems like hip dysplasia, gastric complications, and more.

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To check for the medical complications and rule them out, Jojo has been poked, prodded, and x-ray’d. Everything came back clear. She’s been followed by a cardiologist her entire life and her heart is healthy. She doesn’t have any of the skeletal, digestive, or organ complications. I am so so grateful for this.

What she does have that fits – the facial dysmorphia (dysmorphia = abnormality in the shape or size of a specified part of the body). Jojo has a gorgeous face, and apparently an abnormally shaped one. Her big beautiful eyes – extra long palpebral fissures. Her cute button nose – wide nasal ridge. It is mild compared to some of the published cases. Other things that fit – low tone, motor delay, speech delay. Here is the medical paper that has the most information on AKS if you wish to read more.

It seems Jojo has a version of AKS that is on the mild to moderate end of the spectrum compared to the known cases. They are up to around 20 patients now. The gene mutation Jojo has on HNRNPK is a missense variant. Most of the cases identified so far have a loss of function variant. Translation: think of a gene as a sentence. If the sentence had a loss of function change made to it, so many letters or words would be messed up or missing that the meaning of the sentence would be lost. A missense change on the other hand, would be like a small typo or auto-correct. The sentence would still mostly make sense.

I spoke to Dr. Au, the Au of Au-Kline. She is a very kind and obviously very smart doctor out of Calgary, Canada. I’m not gonna lie, I felt like I was talking to a celebrity a little bit. She is starting a new study to understand the difference between missense and loss of function gene variants in
AKS so we joined in. Figuring out how to get Jojo’s DNA sample shipped to a lab in Canada is one of my proudest achievements in this whole thing. I’m cautiously optimistic that something will come out of this study – whether it is just meeting other families or – dare I say it – treatment or gene therapy.

So to recap the facts: Jojo is healthy medically. She definitely has gross motor delay, speech delay, and very likely intellectual disability. It is really not possible to test for intellectual ability until around age 5 so we won’t know the severity until then. That is really all we know. She continues to improve in motor and speech with therapy. Her speech has been improving these last months, much more than the motor. She is talking around the level of a 2 year old. She’s tolerating more and protesting less in physical therapy which is huge. The brain can rewire itself so the more she is on her feet and practicing walking, the more possible it becomes.

I haven’t cried since that day on the running path. Well, at least about this! I still run it and think about that day every time. I think of it as a gift. That was the day I was able to really face what Jojo has. The diagnosis gave it a name and took away the ambiguity. It gave me some guardrails for my expectations. I don’t know exactly what Jojo’s future holds. What I know is that she is currently living with disabilities and my new expectations center around that. I no longer fret about will she walk? Now it is – do we have the best walker for her needs, does she have enough therapy in her IEP? Are we supporting her and having fun with her? Are we giving enough attention to her brother? How do we adapt our life to fit with this new normal? I never expected this. And. It is so much better than living in constant uncertainty.