Letters and Numbers

TTN and LAMA2. This combination of letters and numbers meant nothing to us a month ago. Now we know that TTN is the gene that tells the body to make a very large protein called Titin – which is important for skeletal and cardiac muscles because it provides the structures required for muscles to contract. And now we know that LAMA2 is the gene that tells the body to make part of laminin proteins, which act to maintain the stability of muscle fibers.

In December we got the results Jojo’s genetic test, which was recommended by her neurologist in September. Jojo has a variance of unknown significance (VUS) on both of these genes. A VUS is an abnormality that can neither be confirmed or ruled out as disease causing. In my obsessive online research, I came across this statement: “A VUS is not a clinically useful finding”. This pretty much sums up Jojo’s entire medical journey since we discovered her motor delay at five months of age. There have been no definitive findings or answers. This is a double edged sword. On one hand, we are immensely relieved every time we rule out common disorders such as  cerebral palsy and muscular distrophy. And on the other hand, it is profoundly unsettling to not know what is causing Jojo’s hypotonia, or if anything is causing it at all.

I’m starting at the end here with the genetic testing, so let me go back to the beginning. Jojo was born on March 3rd, 2015. She was a peaceful baby that slept a lot and had a quiet, calm energy. She was stoic from the start. She made us wait 10 weeks for the first smile. She passed all wellness checks with flying colors. In mid-July when Josie was 3.5 months old, we visited my family in Michigan. Jojo has a cousin A who is a mere three weeks younger. As soon as I held A, I noticed the stark difference. A was holding her head up very well and  planting her legs when held in a standing position. Jojo wasn’t doing either of those things. When I held Jojo after holding A, she seemed floppy.

When we returned home from that trip, I called Jojo’s doctor. He suggested we move up the 4 month checkup by a couple weeks. He examined her, and said come back in a month. We went back in a month and he said “It is probably nothing, but why don’t you see a neurologist”. We saw the neurologist and heard the words “benign congenital hypotonia” for the first time.

Almost immediately Jojo began working with a physical therapist once a week and a speech and feeding therapist every other week. By December she was in with the best pediatric neurologist in the Bay Area. In early 2016 she was referred to the Golden Gate Regional Center who provides services and funding for people with developmental disabilities. Jojo started getting home visits weekly for PT and OT. We started taking her to a class that is 2 hours once a week where other kids with similar conditions are there as well as all the therapists.Jojo became a very busy lady at one year of age. In mid-2016 she was tested for all the common muscular disorders that could be potential root causes of the hyptonia. The test came back clear and we rejoiced.

As the months go by, more delays are revealed. It is very difficult to judge “normal development” with an infant, as there are such wide time windows for normal development. Walking normally develops as early as 10 months and as late as 18 months. Speech is even more nebulous. Now at 22 months, it is clear that Jojo has a speech delay. She’s beginning speech therapy twice a week now, filling her schedule even more.

Thank god for the GGRC and all these programs. Jojo is getting so much support and treatment, and if not for the funding, we’d be bankrupt. But that is a whole other post. I find that day-to-day I don’t think much of Jojo’s life. And when I stop and think about it, it is overwhelming. Operating in wait-and-see mode wasn’t difficult at first, when she was 5 months, 12 months, even 15 months. Now that she is nearing two, it is harder. When will she catch up? Will she ever? When will her life be normal? When can she start daycare or preschool, and play with kids her age and experience the world the way she is meant to? Every person who knows and loves Jojo has asked these questions, whether aloud or to themselves. I have these questions too. I continue to ask them of her doctors and therapists, even though I know there are no answers. Yet.