Month: January 2017

So back to the VUSs. The variances of unknown significance on Jojo’s TTN and LAMA2 genes. We don’t know what it means, what we do know is that common disorders associated with known variances on these genes don’t fit with Jojo’s situation. Let’s start with TTN. The most common problems associated with TTN variances are serious – some are fatal and often degenerative, meaning they get worse over time. This is not Jojo. She’s getting stronger and improving with time. And she’s never had breathing or feeding problems which are characteristic of disorders related to variances in TTN. To be completely thorough, she just had her 5th and final echo cardiogram on Monday, and it was completely normal.

Next is LAMA2. The first thing to address is that all known disorders related to variances in LAMA2 are recessive. If you’re not in the sciences take a trip with me back to high school biology (I’m taking big liberties here to keep it short and sweet):

…….Our bodies are made up of cells, and our cells contain DNA. DNA is organized into chromosomes – 23 pairs, 46 in total.  Chromosomes are organized into genes. Did “pair” ring a bell? Yes, each chromosome and thus gene is a twin set – a dominant, and a recessive allele. Remember punnet squares? Some human traits like brown eye color are dominant, which means brown eye color can be inherited if passed only on one allele. Recessive traits on the other hand must be passed on both alleles…..

This nuance is important for Jojo because she’s dealing with variance on only 1 allele. So she cannot possibly have a recessive disorder, it would have to be dominant. Additionally, these known recessive disorders are severe – we’re talking kids who still cannot hold up their heads at two years of age, cannot breathe or eat on their own. Again, not Jojo. My heart goes out to these kids and families, who we see in waiting rooms and therapy centers. But I digress and this again is another post entirely.

So what’s next, where do we go from here? Jojo had her echo which was next step #1. Next step #2 was for the hubs and I to both get our genes tested to see if we have the same variances, which we just had our blood drawn for on Monday. If we do, we can declare Jojo’s VUSs as meaningless. If we don’t, well, we’re still in the same place – no satisfying answer. There are no further tests to do. And Jojo won’t be definitively  diagnosed, meaning the placeholder diagnosis won’t stand permanently, until Jojo is walking and talking. The path forward will be the same no matter what – therapy, hard work, pushing Jojo continually to do more, and loving her to pieces in the process.

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.

 

I am going to tell you about my daughter Jojo. She is amazing. She’s 22 months old and has  a shock of white-blonde hair. She has huge, beautiful eyes. She has long, elegant fingers. She has delicious, gigantic cheeks. She has the sweetest disposition. She can be very discriminating and isn’t afraid to let us know when something isn’t up to snuff with her. She is lovely in every way. She can communicate a hundred different messages with her eyes and expressions. She is perfect.

And. She is imperfect. There it is – that magical word “and”. So much better than “but”. Because more than one thing can be true. More than one feeling can exist at the same time. I am hopeful and I am uncertain. I feel brave and I’m scared.I feel blessed with such a wonderful little creature, and feel like life has dealt her and us an unfair hand.

Jojo was born with hyptonia, which is low muscle tone. Her current diagnosis is congenital benign hyptonoia, and it will remain the diagnosis unless and underlying neurological or muscular problem is found. Because of this condition, Jojo has delays in gross motor, which impacts mobility and speech.  Jojo cannot crawl or walk. She babbles a lot and speaks in her own language but only has a small handful of real words. We can see her frustration grow as she approaches two years of age and cannot move around the world and keep up with her energetic brother.

Very little is known or written about hypotonia. I’m sure other families dealing with this have had the same frustrations we’ve had while trying to understand what is going on with our little girl and what we can do to help her overcome it. This blog is our way to keep friends and family informed on Jojo’s progress, and also to share our experience with other families who are dealing with hypotonia, or any development delay, special need, or condition that falls outside the bounds of “normal development”.