Jojo recently had an appointment with a genetic specialist. And and I learned something I didn’t know but thought I did. Not that I was misinformed. I’ll use an analogy. Imagine a large underwater labyrinth of caves in the middle of the ocean. These caves are connected by long, narrow, winding tunnels. From some areas of a given cave, you can’t see the tunnel openings that lead to other caves. Now say you are scuba diving in the middle of the ocean and you discover one of these caves. Amazing! Under all that water there is a cave. But it is dark because you’re at the bottom of the ocean and your air is getting low so you head back up, completely oblivious to the connecting caves. You think you discovered a cave. And you are not wrong. It’s just that your information is incomplete. Rare, unknown, valuable information is in those other caves. You just don’t know about the tunnels to even consider navigating them.
So here I am, in this cave I’ve been in for the last 18 months, since we did the last genetic test. And we are at this appointment with an MD /PhD of Molecular Genetics and Genomics at UCSF. And he just shined a bright light on one tunnel for me. The genetic testing we did 18 months ago was not comprehensive. I totally thought it was. It did not rule out any and all genetic disorders. It was limited to a neuromuscular panel which means only the genes related to neuromuscular disorders were evaluated. This question we’ve been asking: is the crux of Jojo’s delays a problem with her muscles themselves, or with the brain talking to the muscles? Maybe we’ve had that answer for 18 months. It is not the muscles themselves.. I think. I say “I think” because I could be standing near a tunnel entrance that is at the moment not visible. Let’s just assume that moving forward the “I think” is implied.
So the problem is in the brain talking to the muscles. I don’t know which is better but I do know that the brain can create new neuropathways. Jojo’s brain is learning to talk to her muscles more and more all the time. The MD/ PhD of Molecular Genetics and Genomics recommended two tests. The first is the SNP Array that counts all (approximately) 24,000 genes. This test will identify any deletions (missing parts of a gene) and duplication (too much of a gene). The second test is the Whole Exome Sequencing, where every single gene is read in detail. Jojo had her blood drawn, and hubs and I gave our DNA and now we wait. Two to three months. When the results come back there is about a 30% chance we’ll have a diagnosis. A 70% chance that we will know nothing more than we do today regarding an underlying cause of Jojo’s low tone.
I’m also discovering another cave since this appointment. And that is just how important it is to have a diagnosis. As Jojo gets older and this road she’s traveling stretches out before us, it’s becoming more and more clear that it isn’t a short road. And things get tricky with the public school system when there isn’t a diagnosis. I started going to a support group last month. I met a lot of moms, mostly with kids older than Jojo. Veterans who know the special ed ropes and speak the vocabulary and know all the rules, laws, obligations of the school district and the state. And I’m hearing things like, as soon as Jojo takes her first steps, they will stop providing PT. There are all kinds of organizations who fund and provide additional support and therapy at school. Jojo needs a diagnosis to access them.
I can’t fix Jojo’s brain-muscle communication and I can’t make her walk or talk more clearly. How I wish I could. I don’t have a map to to navigate this labyrinth to gather up every bit of valuable information. So I’m making my own map. By talking to as many people as I can. And focusing on what I can control. And that at the moment is getting her a diagnosis.
Jojo The Strong 