Isabella Grace-ious

Isabella Grace
The story of the girl who changes my life

Wednesday, July 13, 2011

A few summer updates...

A summer cold has invaded our house, so we are all feeling a little crummy this week, but I actually have a few hours of alone time today, so I thought I'd post an update on what we've been up to while it's quiet.

Isabella has one week left of her summer program at school, which she loves. I think she is going to go a bit stir crazy when she realizes that she has six weeks of staying home with me before she goes back again in August. She is so clever these days though, and I am amazed by how much she understands and remembers. I was worried about having to prepare her for this change in her schedule (not attending school), but she totally gets it. She talks frequently about it now, and says multiple times a day "next year I'll have a new classroom, a new teacher, and new friends, right mama?" I often have to remind myself that she actually loves new adventures, but that I shouldn't prepare her too far in advance for them or else I hear about it endlessly until it actually happens.

I realized recently that these next few weeks off with her are going to be the last time until next summer that I have weekdays with her all to myself. This past year she was in preschool three full days a week, but next year she transitions into 5 day a week preschool. This kind of hit me hard. I cherish the days where we cuddle on the couch and read books in our jammies until noon, and that these days will soon be few and far between is gut wrenching. It is one of the many signs that my baby is no longer a baby.

Lately I have been looking at her baby pictures and my arms actually ache from wanting to hold her infant self again. To look in those big eyes and know what I know about her now. To say I was clueless back then isn't entirely true, but I had no idea of the journey that her life would lead us on. I look back at myself holding her while I cried for her future, worried about her health, and fretted over what was causing all of her issues, and I want to go back to those days and tell myself that it will all be okay. That it already was okay. I still cry for her future. I still worry about her health. I still fret about what is causing her issues. But I know that today she is fine. And her story, while full of adventures and mountains to climb, will be beautiful. It might not be the story I would have written before I knew her, but I know that "happily ever after" will definitely be in there somewhere.

(Sorry for the picture overload. I am getting carried away with wanting to look at old pictures! And if anyone wants to show me a more condensed way of posting pictures on blogger so that they aren't just one long list of them, I could use all the help I can get!!)

She is really doing better than ever lately, which makes "happily ever after" that much more real. Her speech is improving rapidly: it is becoming more clear and she makes so much sense when she talks! She started a new therapy that combines speech and OT in a group setting with other kids, and she loves it. She has been attempting to gallop (the funniest gallop you have ever seen... she calls it "stipping" (skipping) and it is the most awkward and beautiful gross motor skill she has acquired yet). She also started a new physical therapy for the summer where she gets to swim and (hopefully) ride horses. She is working on mastering drawing circles, and she can identify most of her letters. She can even write an I, E, L, T, and H with very little help! Seeing how far she has come is a wonderful reminder that there is no limit to how far she will go.

In June she had an appointment with her neurologist, and it was by far the most positive appointment we have had with any specialist to date. He is impressed with her progress, and because he has not seen any loss of skills he doesn't think she has a progressive disease at this point. Because she is doing so well he decided that he wants to wait to do any tests that require any more sedation until either she no longer requires sedation to do the test (such as in the sedated MRI) or until her health shows us that she requires further testing.

We also saw a new ENT to determine whether she has any clefts in her palate that we weren't aware of. When her geneticist saw her last she seemed surprised that her ENT hadn't already done a scope to check for any cleft anomalies. This frustrated me to no end! The poor girl practically lived at the ENT for the first two years of her life, and after countless ear infections, ear tube surgery, and SEVERAL mentions by me that her palate seemed incredibly high and that she often refluxed out of her nose, her old ENT never investigated the possibility that something else could be wrong that was causing some of these problems. At our recent appointment with her new ENT, he told us that the muscles at the back of her palate that are supposed to close with speech and swallowing and such are very weak and probably don't close the way they are supposed to. She had a respiratory virus at the time of her appointment so he was unable to do a scope of her nose and throat, but he thought that she might in fact have a sub mucosa cleft in her palate, but that because her speech is developing, her reflux is under control, and her ear infections have diminished, surgery wouldn't be done to correct any possible openings at this time.

The other valuable thing we learned at the appointment was that this particular ENT has several patients with Kabuki Syndrome, and after looking at Isabella he told me that he wouldn't at all be surprised if Kabuki was the diagnosis that she ends up with.

At the end of the appointment the doctor listened to Isabella speak for a while and said that even though she has had a sedated hearing test (which she passed) he would like to have her hearing checked again. We were lucky enough to get an appointment that day while we were already up in Cleveland, so we went right over to the hearing test center. After a good hour and a half of testing we were told that they think she might have some mild hearing loss, but that they would want to repeat the test on a different day before they decided for sure, so we go back for another appointment with both the ENT, the Hearing Center, and a Speech Pathologist in August.

After much thought, I also decided to get Isabella's blood drawn for the Kabuki Syndrome genetic test. This was not an easy decision for me to make. First of all, we kind of had to jump through hoops to get it covered by BCMH insurance, and even after we did get it covered, I wasn't sure I wanted to have it done. As I have mentioned before, it isn't as clear as most genetic tests... a negative result doesn't mean she doesn't have Kabuki syndrome. The MLL2 gene that they are testing aids in the development of other genes, so if the MLL2 gene isn't abnormal, it could be that it had a part in mutating one of these other genes, which could result in the same set of characteristics that make up Kabuki Syndrome. The problem is that they haven't yet developed tests for these other genes (or haven't discovered exactly what genes they are?), so if the tests come back negative, we are pretty much at a stand still, and exactly where we are today: so close to fitting a diagnosis, but not yet there yet. I honestly think that she has Kabuki, and if not Kabuki, then something ridiculously similar to it. And knowing that no matter what the results are of the test, there isn't anything different we would do in her treatment plan makes me wonder if the test is worth it. But, because I am hopeful for a positive test result so that our search for answers can finally be over, we had it done. I can't believe that I am actually hoping for a positive result on a genetic test, that I am actually hoping she that she, with certainty, gets diagnosed with a syndrome. Two years ago this thought alone would make me sick inside. But I know now that there is definitely something different in her chromosomes that makes her who she is, and for so many reasons, I want to know what it is. And if being diagnosed with Kabuki Syndrome means that she won't be diagnosed with something worse, I will pray endlessly for a positive test result.

My biggest worry with getting her tested is how I will react if it comes back negative. I know I will be disappointed that we still don't have definite answers, even though in my heart I feel like I already know. Her symptoms on the spectrum of Kabuki are definitely on the mild side, and because of this, I don't have high hopes that the test will come back positive. So, in my typical fashion, I am preparing myself for the worst and stressing over it now so that it won't be as hard to deal with when the test results finally do come in.

Other than that, this summer has kept us busy! Noah continues to progress in his speech therapy, and he amazes me daily with his energy and his curiosity. I have often noticed him watching with intensity things that people do, only to find him imitating it later. Just last night, for example, he was glued to watching the All Star baseball game on TV, and today all he wants to do is throw balls and use his plastic golf club as a baseball bat. He is ALL boy, for sure.

Tonight Jen and I have our fourth Special Loves Network meeting, which I am really looking forward to. We have had really strong and positive feedback from many of the mom's who have attended these meetings, and I have met and become closer to so many wonderful people there. Although I admit that the Special Loves Network blog has been lacking my attention lately and needs some serious pruning, the group itself seems to need only time and a place to gather to flourish and be beneficial to all who have attended, and for that I am so grateful!

Okay, long enough post for one day, eh? That's what happens when you only update every few weeks! These love bugs are just keeping me so busy!


  1. Hi, I just wanted to say a big thank you for sharing your story. Our daughter is expected to have Kabuki Syndrome and it has been of great comfort to see how Isabella has developed.

    Mike Newman, Hampshire UK

  2. Mike,
    I am glad Isabella's journey can help you in some small way! I can relate to this, I find so much comfort and a sense of true understanding when I read about and see other children with this syndrome. Thank you for your comment, I hope your daughter is well!