Month: June 2018

We are living in troubled times.  So many horrific things are happening. Kids getting murdered at school. Wildfires and droughts and hurricanes destroying huge swathes of communities. Endless wars, new ones brewing. Parts of the world are so dangerous that the people living there are fleeing with nowhere safe to go. No way to protect their children and families. It is utterly overwhelming. Things seem so bad. It can seem like there is more bad in the world than good.

I have been giving this a lot of thought lately.  These problems are complex. There is disagreement on what the solutions should be, or even what the problems really are. We get lost in our debates and polarizing vocabulary. And we start to believe that those who disagree with us are bad. Maybe some of them are. And maybe we need a new perspective too.

Which brings me to Jojo’s preschool. It is the biggest shift in perspective I’ve ever experienced. I love this school. More importantly Jojo loves it. It strictly has special ed preschool classrooms. The people who work there are good. Good at their jobs, yes. And good at their core. Jojo’s teacher exudes warmth, compassion, and capability. She was put on this Earth specifically to do the job she is doing. There are speech and occupational therapists in the classroom every day as well. There is a physical therapist Jojo spends 90 minutes a week with. They are some of the loveliest people I’ve ever met.

For the first time I feel like Jojo is getting all she needs. She is in a social and learning environment 5 days a week with such wonderful and talented adults, with sweet, incredible classmates. Beyond her school, life with Jojo has opened an entire community to us of doctors, therapists, other parents and children. And it has opened my heart and mind. Because these teachers and therapists don’t get into special education for the money. They aren’t paid the big bucks and they certainly are not paid enough for what they do. I think they get into it for the love. They love these kids. They love Jojo and they will help to change her life.

In these troubled times we can feel helpless. How do we fight for what we feel is right? We can donate to the right organizations, and we can call our senators, and we can march and rally and speak out on social media. And maybe, most importantly, we can pay more attention to what we see every day and recognize the love and the goodness that is there. And we can acknowledge it, be grateful, for it, and reciprocate.

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.