On a warm summer day on the last Friday of July we were told that Jojo has something called Au-Kline Syndrome. The results of her genetic tests were back, from the whole exome sequence we did in June. She has a meaningful variance on the gene HNRNPK, a protein coding gene. This kind of variant on this gene means Au-Kline Syndrome (AKS). AKS was defined very recently in late 2015. There are 10 known patients, and like with all rare genetic disorders, this number will grow as families just like us seeking a diagnosis will find it.
If you search online for AKS, you won’t find much, except for a few characteristics of the syndrome. I’m going to tackle the scary shit in my next post. Right now, I want to share what it means to have a diagnosis. It has taken me four months to finish writing this. Is it because I’ve been busy? Indeed life has been busy with work and school and all that. And. I think it has taken me thing long to sort out how I feel.
So finally. After years and tests and worries we have a diagnosis. It is a paradox. We have an answer and yet we really don’t. Because AKS is so new and rare, little is known. We have a label for Jojo, a syndrome. And do you know what a syndrome is? It is a group of symptoms that commonly occur together. So is this really an answer? Or just a succinct label that makes it easier to describe her situation.
The day we had this appointment , my dear friend D watched Jojo’s brother for us. On my way to pick him up later, I tried to think of what I’d say to her. I was relieved to have an answer, and terrified of what it means for Jojo’s future. I wanted to cry and couldn’t. I got there and D was standing in her driveway with a glass of wine in each hand. We sat outside and she simply said “tell me”. And what came out of my mouth is “I think Jojo might be retarded”. We talked for a long time and said many things that have gone unsaid the last 3 years. Some things I suspect a lot of you people that I love dearly may think as well. That she felt guilty for having a typically developing little girl, just one year older. That she wondered if this is happening to my family for a reason, or is that stupid to ask. All the questions. The diagnosis was a huge ice breaker that enabled us to talk completely freely.
Two days later I went for a run. It was a Sunday morning and the running path near my house that runs along the creek was moderately populated with other runners, families with strollers and dogs. I was thinking about Jojo, as I had been constantly since Friday and it just came on. The overwhelming urge to cry. So I went for it. I pulled over and sat on a bench that was a bit off the path, obscured by a tree. I just sobbed. It was the first time I cried about Jojo. I didn’t hold back and finally, when it felt done, I stood and wiped my face dry and ran home. I felt a bit lighter.
The heart of that sadness is the intellectual disability. Which is the modern, nicer way to say retarded. This has always been a question mark. The jury has been out – are Jojo’s delays strictly physical, or intellectual as well? With this diagnosis, it is pretty certain that there is some intellectually disability. The two Jojo’s side by side, the first the real Jojo and the second a Jojo that can run, jump, say everything on her mind, do anything in life; I’ve been holding on to both so tightly. Since the day we heard Au-Kline Syndrome, that second Jojo is fading. Perhaps it is time to say goodbye to her. Perhaps that is what I’ve been doing for the last four months. What remains is the real Jojo, who I love with all my heart. My infinite heart for all she has already taught me about love. And my broken heart with the knowledge that she will be limited in life.
Jojo The Strong 