Author: jojothestrong

In March this year Jojo turned four, and she became eligible to be a rider at a nearby horse ranch. Not just any horse ranch, it is a non-profit that provides therapeutic horseback riding exclusively for disabled people. Finally. Jojo has a thing. Something that is just for her.

On the drive to her first ride I was in awe. The ranch is in Nicaso, a small village about a 45 minute drive north west from our home. Nicaso is a tiny rural village with a population of 96. It is a beautiful part of Northern California with rolling hills and redwood trees. Much of the area is used for agriculture. The hillsides are dotted with cows in every direction. There are organic farms, even some small vineyards.

That first day was tough. Jojo wasn’t having it. For any young child, the unknown is scary. Something new and out of routine is confusing and disorienting. And not being able to have a conversation with Jojo ahead of time to explain and set her expectations meant absolute terror for her. Getting the helmet on was the first battle and I didn’t come out unscathed but got it done. Next was getting her on the horse. I really didn’t think it was going to happen on the first day. But these people are serious professionals. We stood on a raised platform, and I held Jojo as they brought over Skippy the pony. They whisked her out of my arms and onto Skippy and began walking toward the riding arena, which is at least a football field length from where the parents and caregivers are allowed to watch. She screamed bloody murder for about 10 minutes. I hid behind a tree, peeking around to watch. She finally quieted. I could see from afar she was happy. Her arms were flapping and wiggling, much like what she does when I arrive home from work at night. I was elated.

She rode for half an hour, with three adults – a guide on either side of her and a horse guide leading. When her time was up they started back to the platform and I came out of hiding. As soon as she saw me she started crying again. More evidence to support the study that kids are 800% worse when their mothers are in the room (satirical study here).

Now, six months later, when Wednesday afternoon rolls around and it is time to go to Nicasio, there are no tears. There are no screams, no need to hide behind trees. Jojo is so excited, she says “Skippy” over and over in the car on the way there. She loves riding. She comes alive. It gives her independence for that brief time while she’s riding. She’s able to move without being carried. She feels the movement of Skippy and that gives her muscles input, much like if she were walking on her own. That creates new neural pathways in her brain, rewiring it so she can walk one day. She builds her core strength and balance. And, maybe most important and least scientific is that horses are just cool. They can sense and understand human emotion. Riders bond with their horses and develop trust, confidence, patience, focus.

Side note – I highly recommend the movie The Mustang if you haven’t seen it.

Therapeutic horseback riding is becoming more and more trusted to have tangible therapeutic benefits to people with disabilities. It has brought such Joy into Jojo’s life and thus my life. Hooray for horses!

Many angels have come into our life since the birth of our little girl: Jojo’s teacher, her bus driver, her physical therapists, speech therapists, occupational therapists, all the moms in the support group I attend. And of late, I’ve found a more intimate community. A community of families living specifically with Au-Kline Syndrome. Literally all the known cases in world have found each other. And it grows by the month. For me, it all started with a comment, here on JojoTheStrong from a family in France. Their little girl had just been diagnosed with Au-Kline syndrome. They searched Google and Jojo’s shining face appeared in the results. We’ve started writing to each other. I am elated to make this connection and to feel like I can be helpful and give support to these parents who were just beginning their emotional voyage.

And then, this family from France shared that they found an AKS support group on Facebook. The oldest diagnosed is 19, and the youngest 7 weeks. The cases vary widely, in terms of disability and health complications. Despite these differences, there are so many things in common: resilience, kindness, generosity, hope, support, acceptance, love. One beautiful little girl is two years older than Jojo. Her mom posted a video of her walking for the first time, at 6 years of age. I watched this video over and over for the better part of an hour. Whenever I’m feeling down or worried, I watch the video. It gives me so much hope.

Life is beautiful and it is hard. We all have a thing, at least one. A thing that weighs heavy, makes us question our strength, our worth, our ability to cope. And our thing can be very lonely and isolating. Maybe we hide our thing, or avoid talking about it for fear of being misunderstood or being perceived as weak or negative or strange. Before this thing with Jojo, I had other things. I tended to hide them away. And what I learned from that – it doesn’t work. The thing feels worse, it seems to grow bigger and takes over. It feels insurmountable. Life feels darker and so, so lonely. Now, my thing with Jojo, instead of hiding it away I am putting it out front and center. And connecting with as many people as I can. With these communities I’ve found, one locally in special ed and the other globally and virtually with AKS families, I don’t feel lonely at all. I feel comforted, supported. There is light and there is hope. How can there not be when we’re surrounded by angels?

Jojo is a big girl. She turned four in March. Big like “what a big girl!” and also big like physically. She is weighing in at 40 pounds. This is quite average for a typical four year old. For one that isn’t walking yet, it is a lot of weight to carry. My back is constantly sore. We can’t do hikes anymore with Jojo in the backpack. Last time we did I was rubbing Icy Hot on hub’s shoulders afterward. Jojo’s teacher reached out and said it is time. They are having trouble getting her around the school campus and on and off the bus. It is time for an adaptable stroller.

An adaptable stroller is something between a stroller and a wheel chair. Adaptable stroller is a mouthful and I’m not ready for wheel chair so I’ve been calling it simply “wheels”. We got rad purple wheels. These new wheels are a harbinger of change. The bus route Jojo was on could not accommodate wheels so we were moved to a new route with a new driver and a new set of fellow riders. Now a bus pulls up every morning and the driver lowers a massive ramp. We wheel Jojo on the ramp, it rises, she is rolled into place, and her wheels are buckled right into the bus floor. Her co-riders are all in wheels. This to me feels like a huge shift. If we were in the minor leagues of special ed before – if there is such a thing – we are most definitely in the major leagues now.

The driver Dwayne is jovial man. He has a big frame and a bigger personality. I have come to look forward to our morning chats while he is maneuvering the ramp and wheeling Jojo on the bus. He sings in a gospel choir in addition to driving a bus full of special needs kids. He has a big smile for Jojo every morning. He is one of our angels.

Jojo has grown accustomed to this new way of getting on and off the bus. She loves the bus so she tolerates the wheels. Anywhere else though, it is a hard no from her. She wants to be carried. I took Jojo and her brother to the discovery museum near our home. Far too heavy to carry, I brought the wheels for her. She screamed and howled as I pushed her from one play area or activity to the next. I plastered a smile on my face as everyone stared. A two year old throwing a tantrum is no bigs. It is expected. As the parent, you receive looks of sympathy. A four year old throwing a tantrum does not garner looks of sympathy. They are inquisitive, bewildered, judging. In a moment of insecurity and twisted logic, I was thankful for the wheels, a signal that Jojo has special needs. That her carrying on is not a product of deficient mothering.

Since getting her new wheels, I’ve been thinking about what other new things may come. We already have a handicap placard for our car. Will we need to buy a new car that can accommodate the wheels? For now it folds up and fits in the back of our SUV but not our smaller 4 door sedan. Should we build ramps into the house? For now there are only a couple small steps we have to maneuver the wheels up and down. Will she walk before we need to do any of these things? I don’t know. And. I hope.

When I was pregnant with Jojo, there was a drama of the heart. At the 20 week ultrasound, the radiologist saw something abnormal in Jojo’s heart – an enlarged aortic valve. I was to fly to New York that evening for work. She recommended I cancel my trip and get an echo-cardiogram straight away. An hour later I was with the cardiologist. He thought Jojo had a bicuspid aortic valve. This is the most common congenital heart defect and most that have it don’t discover it until much later in life. It didn’t require intervention, blood was getting pumped around as it should. They repeated the echo every 6 weeks until Jojo was born to make sure nothing worsened. This heart drama landed Jojo in the NICU for the first couple days of her life, and at six weeks of age she got an echo-cardiogram directly (rather than through my womb). Her heart looked and pumped blood completely normally. It has been a false positive. The explanation was that technology has improved so much, details that couldn’t been seen before can now be seen and that ranges of “normal” haven’t been calibrated with this new precision. By new standards, the aortic valve wasn’t enlarged.

We didn’t figure out the hypotonia with Jojo until 5 months later. Because the heart is a muscle, she gets an echo-cardiogram every year. Her heart doesn’t have the weakness her limbs and trunk have. And how strange that she has a genetic disorder that in most patients causes heart defects. Jojo doesn’t have the super common heart defect she was suspected to have. And she has the rare genetic disorder that can cause heart defects. Is this a profound coincidence? Or did that first cardiologist see something – a minor benign enlargement that is caused by AKS?

Maybe because of all this, I’ve had Jojo’s heart on the back of my mind her whole life. Longer really, since before she was born. And maybe it this that sent my mind to create a story of Jojo and her weak muscles and strong heart. I didn’t set out to create a story, It was more out of necessity.

Jojo has some pretty strong opinions. She likes what she likes and she doesn’t put up with anything she doesn’t like. She has a scream that can stop traffic. Temporarily make the hearing deaf. Turn every head on the playground, in the grocery store, at the restaurant. One thing she likes is books, and she is very strict when it comes to book selection. What she likes best is to open books, flip through pages, be a little destructive. When I read to her, there is usually only one book in rotation and it must be that book. She’ll have certain pages she favors and she’ll require that I read that page over and over.

Some nights though, when it is bedtime, Jojo doesn’t want to read or do books. Sometimes, she is very upset after being pulled from the bath, having a diaper change, getting her teeth brushed. These are the things she doesn’t like. Doesn’t put up with. She screams and cries and makes her despair known to all. We sit in the rocking chair rocking, me patting her back and singing. She snuggles in, calms down, and readies for bed. This is one of my favorite moments with Jojo – the calm after the storm.

Of late, my singing has moved from the category of things she likes to the things she does not. On a particularly despairing night, when my singing caused louder screams, I started talking instead. In my most soothing voice. It started out with simple phrases: I love you, it will be ok. Then I started telling a story. I have invented a lot of songs about Jojo, so I suppose I was in the habit and I started telling it without really thinking.

Once upon a time, there was a girl who was born with a very big heart. It was so big that in order to beat, it needed a lot of strength and a lot of power. Way more than any other little girl’s heart. So her heart borrowed power from her arms and her legs. It borrowed from her fingers and her toes. From her back and tummy and lips and tongue. It borrowed power from her mind. Her heart beat loud and strong.

The little girl’s body was tired. Her legs couldn’t walk. Her mouth couldn’t say all the things her mind thought. Her heart said “little girl, I am so strong and I have so much love, you will be okay.

One day the little girl’s mom was sad. The little girl thought “I want to walk to mom, climb in her lap, and give her a hug”. Her legs wouldn’t walk so she held her arms up to her mom. She thought “I want to hug you” and her mouth said “Up!” Her mom picked her up and they hugged and it felt like two puzzle pieces that fit perfectly together. The mom’s heart filled with love and her sadness faded away.

The next day the little girl’s brother got hurt. He tripped and fell and cried and cried. The little girl scooted to her brother and held up her arms. Her brother hugged the little girl and was filled with love. His tears dried and his hurt faded away.

The next day, the little girl’s dad was worried about all that has been happening in the world. The little girl held up her arms. Her dad picked her up and hugged her and was filled with love. His worries faded away.

The little girl thought “thank you heart, for making mom and brother and dad feel better. Thank you for being strong.”

The last post was all about my emotional reaction to finding a diagnosis. This one covers the facts. You may have searched online for AKS. If you did, you found a small handful of short descriptions that all say the same thing: facial dysmorphia, intellectual disability, hypotonia (low muscle tone!), and a host of medical complications – heart and renal problems, skeletal problems like hip dysplasia, gastric complications, and more.

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To check for the medical complications and rule them out, Jojo has been poked, prodded, and x-ray’d. Everything came back clear. She’s been followed by a cardiologist her entire life and her heart is healthy. She doesn’t have any of the skeletal, digestive, or organ complications. I am so so grateful for this.

What she does have that fits – the facial dysmorphia (dysmorphia = abnormality in the shape or size of a specified part of the body). Jojo has a gorgeous face, and apparently an abnormally shaped one. Her big beautiful eyes – extra long palpebral fissures. Her cute button nose – wide nasal ridge. It is mild compared to some of the published cases. Other things that fit – low tone, motor delay, speech delay. Here is the medical paper that has the most information on AKS if you wish to read more.

It seems Jojo has a version of AKS that is on the mild to moderate end of the spectrum compared to the known cases. They are up to around 20 patients now. The gene mutation Jojo has on HNRNPK is a missense variant. Most of the cases identified so far have a loss of function variant. Translation: think of a gene as a sentence. If the sentence had a loss of function change made to it, so many letters or words would be messed up or missing that the meaning of the sentence would be lost. A missense change on the other hand, would be like a small typo or auto-correct. The sentence would still mostly make sense.

I spoke to Dr. Au, the Au of Au-Kline. She is a very kind and obviously very smart doctor out of Calgary, Canada. I’m not gonna lie, I felt like I was talking to a celebrity a little bit. She is starting a new study to understand the difference between missense and loss of function gene variants in
AKS so we joined in. Figuring out how to get Jojo’s DNA sample shipped to a lab in Canada is one of my proudest achievements in this whole thing. I’m cautiously optimistic that something will come out of this study – whether it is just meeting other families or – dare I say it – treatment or gene therapy.

So to recap the facts: Jojo is healthy medically. She definitely has gross motor delay, speech delay, and very likely intellectual disability. It is really not possible to test for intellectual ability until around age 5 so we won’t know the severity until then. That is really all we know. She continues to improve in motor and speech with therapy. Her speech has been improving these last months, much more than the motor. She is talking around the level of a 2 year old. She’s tolerating more and protesting less in physical therapy which is huge. The brain can rewire itself so the more she is on her feet and practicing walking, the more possible it becomes.

I haven’t cried since that day on the running path. Well, at least about this! I still run it and think about that day every time. I think of it as a gift. That was the day I was able to really face what Jojo has. The diagnosis gave it a name and took away the ambiguity. It gave me some guardrails for my expectations. I don’t know exactly what Jojo’s future holds. What I know is that she is currently living with disabilities and my new expectations center around that. I no longer fret about will she walk? Now it is – do we have the best walker for her needs, does she have enough therapy in her IEP? Are we supporting her and having fun with her? Are we giving enough attention to her brother? How do we adapt our life to fit with this new normal? I never expected this. And. It is so much better than living in constant uncertainty.

On a warm summer day on the last Friday of July we were told that Jojo has something called Au-Kline Syndrome. The results of her genetic tests were back, from the whole exome sequence we did in June. She has a meaningful variance on the gene HNRNPK, a protein coding gene. This kind of variant on this gene means Au-Kline Syndrome (AKS).  AKS was defined very recently in late 2015. There are 10 known patients, and like with all rare genetic disorders, this number will grow as families just like us seeking a diagnosis will find it.

If you search online for AKS, you won’t find much, except for a few characteristics of the syndrome. I’m going to tackle the scary shit in my next post. Right now, I want to share what it means to have a diagnosis. It has taken me four months to finish writing this. Is it because I’ve been busy? Indeed life has been busy with work and school and all that. And. I think it has taken me thing long to sort out how I feel.

So finally. After years and tests and worries we have a diagnosis. It is a paradox. We have an answer and yet we really don’t. Because AKS is so new and rare, little is known. We have a label for Jojo, a syndrome. And do you know what a syndrome is? It is a group of symptoms that commonly occur together. So is this really an answer? Or just a succinct label that makes it easier to describe her situation.

The day we had this appointment , my dear friend D watched Jojo’s brother for us. On my way to pick him up later, I tried to think of what I’d say to her. I was relieved to have an answer, and terrified of what it means for Jojo’s future. I wanted to cry and couldn’t. I got there and D was standing in her driveway with a glass of wine in each hand. We sat outside and she simply said “tell me”. And what came out of my mouth is “I think Jojo might be retarded”. We talked for a long time and said many things that have gone unsaid the last 3 years.  Some things I suspect a lot of you people that I love dearly may think as well. That she felt guilty for having a typically developing little girl, just one year older. That she wondered if this is happening to my family for a reason, or is that stupid to ask. All the questions. The diagnosis was a huge ice breaker that enabled us to talk completely freely.

Two days later I went for a run. It was a Sunday morning and the running path near my house that runs along the creek was moderately populated with other runners, families with strollers and dogs. I was thinking about Jojo, as I had been constantly since Friday and it just came on. The overwhelming urge to cry. So I went for it. I pulled over and sat on a bench that was a bit off the path, obscured by a tree. I just sobbed. It was the first time I cried about Jojo. I didn’t hold back and finally, when it felt done, I stood and wiped my face dry and ran home. I felt a bit lighter.

The heart of that sadness is the intellectual disability. Which is the modern, nicer way to say retarded. This has always been a question mark. The jury has been out – are Jojo’s delays strictly physical, or intellectual as well? With this diagnosis, it is pretty certain that there is some intellectually disability. The two Jojo’s side by side, the first the real Jojo and the second a Jojo that can run, jump, say everything on her mind, do anything in life; I’ve been holding on to both so tightly. Since the day we heard Au-Kline Syndrome, that second Jojo is fading. Perhaps it is time to say goodbye to her. Perhaps that is what I’ve been doing for the last four months. What remains is the real Jojo, who I love with all my heart. My infinite heart for all she has already taught me about love. And my broken heart with the knowledge that she will be limited in life.

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.

When I scoop her up and hug her, she pats my back

The way she expresses her pure joy – her wide smile and wiggling body and wildly flapping arms when I come home from work

When we’re sitting in the chair in her room reading, she places her hand on mine.

When her brother is overly energetic and annoying me, she laughs uncontrollably and my annoyance dissolves

She makes meaningful eye contact

She eats almost anything

She likes my singing

When she does the sign for “more” you can judge the level of her desire by how frantically she is signing

When she scoots on the beach, she leaves an adorable trail in the sand

And when I subject her to atrocities such as getting stuck by a needle to have blood drawn for one of the many tests, she forgives me

 

Sticks and stones. They’re only words. Toughen up. Have thicker skin. Don’t be so sensitive. We’ve gotten too politically correct. These are all the things that are said to excuse or make light of hurtful words. Or to try and ease the pain inflicted. I call bullshit.

They’re only words? Only? Words are everything! Words are the building blocks of communication, and communication is how relationships function, how knowledge is shared, how ideas come to life, how problems get solved. And over time, the words we speak, the vocabulary we form, the way we choose to communicate becomes a window to our soul. Over time because one moment or one conversation cannot us. The general way we speak about ourselves and the people and world around us over time paints a picture of who we are, at the core.

Our words in some contexts are promises. Our ability to keep our promises is a demonstration of trust, another reflection of who we are. So in a way, we are our words. They can be loving, beautiful, funny, hurtful, painful, careless, the list goes on.

There are a couple of new words that have become part of our everyday vocabulary. Jojo turned 3 in March which means she started receiving services from the public-school district, and her services with the regional center have ended. Now she goes to school every day. There are speech, occupational, and physical therapists that work right in the classroom every day. They are wonderful, and it is a great environment for Jojo, something she has been ready for. It is special ed. She has an IEP. That is an Individualized Education Plan. Every kid in special ed has one. These are words we now use all the time.

These words are hard for me to get used to. This is not where I thought we’d be when we first learned of Jojo’s low tone and development delays. I still hang on very tightly to the belief that she will catch up and lead a normal life. And each new word I must learn and add to my vocabulary takes me a little farther from that belief. I am grateful for these words, for the support and treatment they symbolize for Jojo. And I am scared of them, of how long they will remain in our everyday vocabulary.

Imagine trying to live your life without the ability to use words. Or perhaps equally difficult, using words that nobody seems to understand. This is what Jojo is up against. She is such a trooper. She has 14 signs and at least 26 words or word approximations. At least 26 we can figure out. When she says “up” and “hot” it is very clear. When she says “all done”, it sounds like “ah da”. Apple is “app”. Bubbles is “buh”. Jojo’s words are imperfect, muddled. And they are beautiful because they’ve opened a window into her soul and have showed me that at her core, she is a fierce warrior.