Sunday, January 27, 2013

Excerpt: Expecting Adam

...I have had to unlearn virtually everything Harvard taught me about what is precious and what is garbage. I have discovered that many off the things I thought were priceless are as cheap as costume jewelry, and much of what I labeled worthless was, all the time, filled with the kind of beauty that directly nourishes my soul.
Now I think that the vast majority of us "normal" people spend our lives trashing our treasures and treasuring our trash. We bustle around trying to create the impression that we are hip, imperturbable, omniscient, in perfect control, when in fact we are awkward and scared and bewildered. The irony is that we do this to be loved, all the time remaining terrified of anyone who seems to be as perfect as we wish to be. We go around like Queen Elizabeth, bless her heart, clutching our dowdy little accessories, avoiding the slightest hint of impropriety, never showing our real feelings or touching anyone else except through glove leather. But we were dazed and confused when the openly depressed, bulimic, adulterous, rejected Princess Di was the one that people really adored.
Living with Adam, loving Adam, has taught me a lot about the truth. He has taught me to look at things in themselves, not at the value a brutal and often senseless world assigns to them. As Adam's mother I have been able to see quite clearly that he is no less beautiful for being called ugly, no less wise for appearing dull, no less precious for being seen as worthless.

-Martha Beck, Expecting Adam 

Saturday, January 19, 2013

Vision Therapy

Yesterday we did something that I have been wanting to do for a long time: we saw a behavoiral optometrist, also known as a vision therapist.

I can't remember when Juliana's eyes first began crossing. We don't remember seeing it when she a newborn, but then again she was very sick and didn't spend a lot of time with her eyes open. By the time she was beginning to make eye contact I was beginning to notice that her eyes looked a bit "off." Here she is when she was 3.5 months old. If you look carefully, you can see that each eye is looking in a slightly different direction:

Several months after this she had her first appointment with an opthamologist. It was a relief to hear that her eyes were healthy. The opthamologist wanted us to begin patching her eyes. We would help strengthen her eyes by patching an alternate eye each day for one or two hours.

Strengthening the eyes is well and good, but I now realize that the root problem is coordination and integration - not strength. We have actually never noticed any problem with Juliana's vision, other than the way that her eyes look. But surely it must affect her vision somehow. Other than patching or perhaps eventual surgery (a bridge that I am not sure I would ever cross), her opthamologist has no suggestions.

I needed to see someone with solutions. The problem with the eyes is really a problem with the brain. We've been re-programming her brain through occupational therapy and physical therapy. Now I needed someone to focus just on the eyes.

And so yesterday afternoon we sat down for a vision assessment. The optometrist spent some time looking at Juliana's eyes from different angles, looking through different blocks of glass, shining lights in her eyes, observing the way that she tracks a moving object. She saw the strabismus of course. I explained that it seemed like it had improved a little bit in the past few months. We used to always see it in photographs - sometimes having to delete many photographs because her crossed eyes were almost painful to look at - and now it is less obvious. Example below. I can still see the strabismus, but it is not glaringly obvious:

Overall the evaluation went very well and the optometrist had a lot of positive things to say. Juliana's eye aren't stuck in the wrong place; they drift in and out of the right places. She's not in glasses. She doesn't appear to have any visual difficulties. She doesn't misjudge distance or depth. Her skills with throwing and catching a ball are simply awesome; she is very accurate. She naturally will cross the midline of her body (read why this is important). She is crawling, which is a hugely integrating activity that is good for the brain and thus good for the eyes (read why). These are all good signs that bode well in her favor. After the assessment, the optometrist agreed with me that her right eye is in a little bit worse condition than her left (I wonder if this could possibly relate to having torticollis towards the right for so long?? I forgot to mention it).

Here's what we'll be working on for the next two months:
-Getting Juliana to look out of the corner of her right eye. Stretch the eye to the side.
-When she is focused on something up close, quickly direct her attention to something far away. This quick transition stretches the eyes.
-The optometrist said to continue with patching for the time being. When we're patching, we should be sure to play actively. Fine motor in particular is good to really encourage hand-eye coordination.
-Continue to work on crossing midline and overall integration.

After this we'll be back in to see the optometrist and see how things have improved. She will continue to give us exercises to work on at home. I'm a little daunted by the idea of getting her to "stretch" her eye on a regular basis, but otherwise I am hopeful that these exercises will not only improve the look of her eyes but will more importantly help improve this function of her brain.

Saturday, January 12, 2013


When Juliana was diagnosed with Kabuki syndrome, it was easy to share the news (thank you, internet). The only people that I told in person were my parents. Everyone else was informed over Facebook or email.

As time went on I found myself faced with a new, unanticipated issue: how would I tell any new friends? When would I tell people? Should I just spurt out the news or should I wait for a quiet moment when it was appropriate to share deep secrets? I felt palpitations just thinking about it.

I remember the first time the opportunity presented itself. We were playing with some other kids who we didn’t know very well. One of the moms asked me, totally casually, if Juliana was crawling yet. Juliana was closing in on her first birthday. Obviously, she should have been crawling. She wasn’t. I simply said no, not yet. Later, I wondered if I had missed an opportunity to get it all out in the open: should I have said that she has developmental delays? Should I have revealed her genetic issue? How in the world was I supposed to do this? I 
distinctly remember that I wanted to pose this question to fellow parents of kids with Kabuki syndrome, but I felt pretty silly about it at the same time.

Some people might just like to lay it all out there. I think my husband is like that. I do remember one specific time where he asked a new friend “Have I told you about Juliana? She has a genetic condition. And look, here’s her feeding tube!” That’s not my style. In her book Bloom, Kelle Hampton writes about how confused she was when it came to sharing her daughter’s diagnosis. Her daughter was just a few weeks old and was on one of her first public outings to Target. During her pregnancy, Kelle had become friendly with a cashier who now rushed up to see the baby. I’m paraphrasing here as I read the story over a month ago, but in her uncertainty of what to say and wondering if people would notice based on the baby’s appearance, Kelle introduced her daughter to the cashier by saying “This is Nella, and she has Down syndrome.” The cashier’s face fell and she took a step back. Kelle decided that this was not the way to share the news.

It’s important to me that Juliana is known as Juliana, a little girl who is similar to lots of other little girls but who also has her own distinct personality (which is tenacious, hilarious, and adorable). I don’t want to identify her by her medical issues. At the same time, I am not trying to keep these issues a secret. See the conundrum? I don’t mind being upfront, but I also don’t want anyone feeling sorry for me or for Juliana. I would really prefer that they get to know her first. If they do, then they won’t pity her.

Over time I have developed my own way. It is fairly simple: I don’t tell anyone who I don’t feel like telling. You might be thinking “well, duh!” but you would be surprised at how some people - complete strangers - try to coax information out of you. Cashiers and receptionists have been the worst offenders.

In Road Map to Holland, Jennifer Graf Groneberg outlines her method of sharing her son’s diagnosis:

And to the question of whom we should tell, we decide this: tell anyone you want, anytime you want, only if you want. It’s nobody’s business, really. I don’t go around telling everyone that I was born with an astigmatism, though I imagine when I’m wearing my glasses people might assume something is wrong with my vision. If they want to know more, they can ask me. And if I want to talk about, I will. If not, I won’t. It’s that simple.
It can feel a little awkward sometimes not to offer an explanation or not to (over)share information. It was especially awkward to me when Juliana was an infant and I couldn't nurse her (or give her a pacifier, or even a bottle) when she cried. Thankfully we are now far past that, but now it is the difference in gross motor skills that is most apparent. A typical child Juliana’s age is walking and we’re still a ways off from that. I have an almost-two year old who just recently learned how to crawl. Maybe I’ll offer an explanation for that. Or maybe I won’t.

For those of you out there who also have a child with different needs, how do you handle sharing this information?

A postscript: Although the initial sharing of diagnosis is an awkward thing that I try to time carefully, this does not mean that I am opposed to talking about Juliana. Likewise I also discuss Calvin's strengths, weaknesses and challenges with friends and family and I see this as no different. Because parenting Calvin is an "ordinary" experience I've never felt driven to write about the process. Obviously I write about this journey with Juliana for the entire world to see and I hope that my posts convey that I am pretty much an open book. I really do not care - at all - who knows about Juliana's diagnosis. At the same time, I don't like it when I feel that I am in the position where I have to offer an explanation... but like it or not, that time eventually comes along every time I make a new acquaintance.

Tuesday, January 1, 2013

2012: Year in Review

Last year around this time I opened up Facebook to see multiple posts about how someone had “such a great year!!” and how things were so wonderful that they couldn’t wait to see what was in store for the next.

I couldn’t relate. I summarized our year:

There really aren't enough words to adequately describe this past year. I began 2011 knowing that there was a small possibility that Juliana was not healthy. We spent most of the year in the dark before finally getting a diagnosis last month. And by "in the dark" I mean that it was truly pitch black, particularly in moments where I could do nothing to ease her pain and when I questioned whether there was any food that was safe for her to eat. It's been the hardest year of my life. But we are forging our own path and by the grace of God we are all still sane and healthy (or getting healthy in Juliana's case). I have been so fortunate to make some new friends who truly understand what we live day in and day out. We're thankful for where we are now but certainly hoping to see Juliana make even greater gains in the coming year.

As 2012 is coming to a close, I am excited. It has been a good year for Juliana. A brief timeline:
  • In January 2012, she began to sit up unassisted.
  • In March, I transitioned her to GAPS intro.
  • Also in March, she began eating all of her food by mouth.
  • In April she was released from the care of the neurologist. I am hopeful and optimistic that we will never have to return. (GAPS is a very effective anti-seizure diet).
  • In May we began seeing our new Occupational Therapist who specializes in sensory work. These sessions have been really pivotal for Juliana and I am so thankful that we made this investment when she was so young. I also switched around every other therapy that we were doing, finally settling on three top-notch therapists (one occupational, one physical, one speech).
  • In June she had her feeding tube removed, exactly one year to the day after it had been placed. I believe that she exceeded all expectations (including my own). We have never been back to see the gastroenterologist.
  • Somewhere along the way, she began to do amazing things like pretend play. She picks up new signs easily (thank you, Signing Time). We see improvement in her sensory processing.
  • In August, she learned how to transition herself from a prone to a sitting position.
  • In October she began a rudimentary commando crawl.
  • In November/December she began to string two words together (“Hi Mama,” “Bye Daddy,” “More swing”).
  • In November we had a follow-up appointment with the geneticist. There wasn’t a whole lot to say, which was fine - no news is good news. I don’t foresee us going back again.
  • In December she began a four-point crawl! She also began climbing steps (with some assistance).

Juliana continues to amaze us on a daily basis. She is observant, she is smart, she is communicative, she is engaged. She has a very good memory. She is quick. I read about (and sometimes see) kids who are slow processors, and this terms just doesn’t fit Juliana. For a long time I’ve said that her gross motor skills were her biggest delay. I believe this still to be true. Her speech is also delayed but lately she has plenty to say; it’s all in there, we just need to work on the articulation. Occasionally we will see a doctor who will ask me how much Juliana understands. Everything, I say. Which is particularly amazing considering that she has a mild hearing loss that we are continually monitoring. Overall, Juliana is very much like any other little girl.

I am hoping and planning big things in 2013. My hopes and dreams are so big that I hesitate to even speak them out loud. They include walking, potty learning and reading. I am also extremely hopeful that she will begin to eat an even more varied diet and that we will all be eating the same things together.

The other major theme of 2013 is something that I have been doggedly pursuing for the past year: balance. We’ve come to a place where our therapy load is manageable but I still do not feel that it is the best arrangement for us. I need more time with both of my kids and they both need more time being “normal.” I feel fairly certain that we will get there sometime in the coming year, but I am not yet sure what it will look like.

Here’s to a healthy and productive year!