Author: jojothestrong

I have two important pieces of information to share: #1 If you haven’t seen the movie Sing yet, you must watch immediately. It is so great. And it really holds up. I’ve watched six times now. And #2 Jojo has a theme song, thanks to my obsession with #1. It’s the song that the Porcupine Ash performs. Which is Scarjo in real life. Anyway. It got stuck so firmly in my mind that I started listening to it on Spotify. Then I added it to my running playlist and man, does that song get me fired up. While running and listening I suddenly thought of Jojo and how it what I want to say (and what I want her to say when she can) to her low tone and resulting delays. Also I just love watching Gunter the pig rock out to this performance in the movie. The fully lyrics are here but I’ll hit the highlights that make it Jojo’s perfect song:

When we go for long stretches of time without a major developmental milestone happening, it can feel scary. I start to worry that Jojo is not going to catch up. What does catch up mean? To me, it means she will overcome her delays quickly enough to eventually be in the normal range of capability for her age. Because ultimately that is what we are working toward. All of the therapy and services, all of the work we do with her at home is to get her caught up. Normal. Unfettered from anything that would hold her back from what she wants to do in life. So when weeks or months go by and she isn’t doing anything new, doubt creeps in.

When one of these long stretches comes to an end, it is so joyous. And last Friday was a joyous day. Jojo stood on her own two feet. No leaning on the couch or other piece of furniture. Just the light touch of her PT’s hands to make sure she didn’t fall. Words on this page cannot do justice to how I felt when I saw her standing. I was filled with pride and happiness. And to best honest, relief. Because as much as I try to stay positive and always believe she will get there, I need a bit of proof every now and then.

Yesterday she had PT again and she didn’t stand. And that is ok. Last Friday will keep me going for a while.

Jojo just turned two, and like every parent says on their child’s birthday, how is she two already (or some version of that). But seriously. How is she two already. This birthday is a little complicated for me. On Jojo’s first Christmas she was 9 months old. We were in Michigan for the holidays. I was spending an evening with my mom and sister and we were guessing when Jojo would walk. My prediction was that she would crawl at 18 months and walk at 2 years. This was based on absolutely nothing and at that point I only had 4 months of experience and knowledge of hypotonia.

Now I know she will likely walk before she crawls, and may never crawl. I also know there is no way to predict when she will walk, but in harassing her physical therapist I’ve learned she’s had kids with similar severity of low tone and they started walking around age 3. I’ve also learned that when kids with low tone are strong sitters, it is a very good indication that they will eventually walk. Jojo is a champion sitter. These are the little bits of information that keep me encouraged.

So Jojo is two. Something in my mind has shifted and she is now definitely a toddler.  We often think of babyhood ending at one year of age and toddlerhood starting because that is normally when toddling / walking starts. And with movement comes the transformation of beautiful, chubby, baby-like features into toddler features – the elongation of the neck, the thinning of the chub. Without that movement Jojo still has her beautiful chub. And with the low tone in her cheeks, well, you’ve seen her. So it has been hard to think of her as toddler when she looks like a giant gorgeous baby. Thinking of her as a toddler helps to expect more of her and push her to do more. Which is exactly what she needs.

Jojo’s second year is bringing lots of change. She is starting a new program at a new school. It is an early intervention program at an integrated preschool. She will go two full days a week on Thursdays and Fridays. She will continue to get speech therapy at home twice a week. Her home physical therapy is going from once to twice a week. She is so ready for school. We are so grateful that there was a rare opening. This will open up her world. She will get comfortable with being outside our home, around other kids, with other adults (which she has zero tolerance for now). I’m expecting a very difficult transition. And that is exactly why she needs this program.

If there is one thing Jojo does not like, it is tummy time. I’ve mentioned before that Jojo has a pretty chill temperament. That is until she has to do something she doesn’t want to do. When that happens, she is not shy about letting us know she’s not down with whatever we’re making her do. And since she can’t talk, she screams. Loud. And cries. Real tears. It is heartbreaking. It feels like we are torturing her.

This whole dynamic doesn’t help her progress, in fact it is counterproductive. Because when you have low muscle tone, moving your muscles is hard work. Jojo is content to sit and play with her toys all day. Why do hard work when you can scream and cry until someone comes to do the work for you? This personality trait of hers emerged very early. I remember in the first months of working with a physical therapist, Jojo must have been 7 or 8 months old, the PT observed that she slows down and even stops the work of therapy with her protesting.

This puts hubs and me in a bit of a pickle. And when I say pickle, I mean emotionally heart-wrenching dilemma. We must push Jojo to work hard every day to get stronger. When we do, it isn’t pretty. If we don’t push her, she won’t make progress. That can feel like the weight of the world. It is so hard to see her upset and not bail her out.  If entertained sufficiently it goes more smoothly. Tummy time is particularly important as her arms are the weakest part of her body. When we subject her to it, she just rolls right out of it onto her back. So we borrowed this tummy time device from one of Jojo’s PTs. It is pretty great, it spins so she can swivel around and play with different things and it gets her up off the floor so she doesn’t just lay her head down and rest. Some days she is cool with it for a little bit and some days she screams as soon as she sees it. Slowly, over time she is getting stronger and able to last longer. One torture, I mean tummy time session at a time.

My longest and most reliable friend is running. I know it is strange that I think of running as a being. Running is someone who is always there for me without question or hesitation. Someone who always lifts my spirits when I’m down, or helps me work out a problem when I’m stuck. I remember the first time I realized that running was such a good friend. I was 13. I had gotten in a fight with my sister and was so hurt and angry. All these years later I have no idea what that fight was about. What I remember is in that moment, I felt helpless.  So I laced up my running shoes, went out the door (slamming it as a 13 year old will do), and hit the road. After the first step and then another and another, that tight knot of anger loosened, and my feelings and thoughts started to flow. And while I ran, I examined them, made sense of them, and fit them all together into a picture that made sense.

I was lucky to discover such a great friend when I was so young. Running helped me through high school,  I ran cross-country and track. That first week or two of college when everything was strange and unknown, I ran around the beautiful campus at Michigan State University. After I graduated and moved out west, 2000 miles from anyone or anything I knew, I joined a running group and trained for my first marathon. When I first became a mother, and was dealing with postpartum depression and what I thought was the end of my happiness, running saved me. Today, as I’m striving to balance a career, raising two little humans, a healthy marriage – running brings me back to a state of equilibrium when I’m feeling overwhelmed. What would I do without it?

What about Jojo, will she find the same good friend in running, or will she have to do without it? My hopes and thoughts that I send up to the universe is that she will. If not running, then whatever sport her heart desires. First she must walk. We’re working on that every day with her. Jojo just got new purple fabulous orthotics that help her practice stand while supported. They are called AFOs (Anke Foot Orthosis) and are designed to provide a stable base of support for her. In other words, it prevents her from locking her knees (which she loves to do) and holds her muscles in a way that builds strength.

So Jojo will rock these awesome purple braces until she walks and then runs. And both of days will be beautiful whenever they come.

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”.