Tablet of her Heart

We all know by this point (I hope!) that talking is made difficult for children with apraxia of speech. But, there are many other things that are difficult for a child with Sophie’s speech disorder as well. I write this post to further educate Sophie’s People who know her and love her and want to understand her world. This post was prompted by my neighbors, who wanted to take a picture of Sophie and Micah. I found myself explaining how difficult smiling was for Sophie, and I thought, there are many other things besides speech that are made very difficult by apraxia. So, I thought another informative post might be in order. Here is a short list of other actions that are typically pretty easy for the average child that will be/are a struggle for Sophie:

A typical Sophie “smile”

*Smiling — As I state above, smiling is difficult for Sophie when it is a planned action. Spontaneous smiles happen all the time, but she cannot easily intentionally plan a smile, as in when we are talking with a friend, or meeting a new person, or posing for the camera. Go ahead and make the long “eee” sound now as you sit there. Notice how it’s a smiling motion, your teeth are bared? This is a very challenging vowel for Sophie to plan, and it’s the same motion as smiling.

*Blowing — Sophie will turn four in February, and it is my secret hope that she will finally be able to blow out those birthday candles! Recently she has started trying to blow on her food through her mouth. (Before she always tried to blow on it with her nose, which is just gross.) So I’m hopeful that with practice we will be able to refine that skill into successful birthday candle blow out.  Likewise, blowing bubbles this summer was pretty challenging. Bubbles don’t blow when you try to use your nose. (Again, kind of gross, though slightly less because there’s no snot going onto food.) For children with apraxia, often the long O sound and the ooo sound, those cheerio-mouth sounds, are tough. If you pause for a moment and blow, you’ll realize your mouth is in that shape.

Working on blowing out those birthday candles at her third birthday party.

*Giving Kisses — Sophie still kisses me with a slack, open mouth. It doesn’t bother me, though we are working on not kissing with our teeth… That’s called biting, and it’s not nice. Sophie can’t pucker her lips, smack her lips, or blow raspberries (zorbits, depending on your contingency). These lip movements require a lot of planning and a lot of muscle control, which, with Sophie’s hypotonia, is also very difficult. Thankfully, she’s got a few years to perfect her skills in this arena.
*Licking — This may seem like an okay skill to lack. It falls into the category of kissing with your teeth — not nice. But, licking is an important skill, especially when there are beaters covered in chocolate batter to be considered, or food smeared all over your lips. Spontaneously, Sophie may stick out her tongue to lick her lips, but she isn’t able to intentionally do this with ease.
*Refined fine motor movements — Often times, global apraxia (or dyspraxia) accompanies apraxia of speech. This is not something that Sophie has officially been diagnosed with, but we do see some coordination issues for her. In the same way that her brain cannot plan certain movements of her mouth (or it’s very difficult to do so), her brain has trouble planning certain body movements. We mostly see this in the use of her fingers. Sophie cannot hold up three fingers to tell you her age. She is now able to hold up one finger, and we are working on two. In addition, this makes signing letters and colors (which use letters) very difficult. Use of fork and spoon are also a challenge. These are skills that will come along with practice, but they are things that the average three and a half year old does not struggle with.

In addition to these simple [read, understand: complex] actions, we’ve found that emotions are really difficult for a child with apraxia of speech. One of the best ways to feel better when upset is to give vent to feelings, and one of the best ways to do this is through verbal expression. Sophie cannot verbally express her feelings. This leads to a lot of upset, even meltdowns (different than tantrums), because she becomes overwhelmed and struggles even to identify, let alone express, what she’s feeling. We give her grace and encourage her to remain calm whist trying to help her identify and express her feelings.

Again, I write these things to educate, not to make anyone feel sorry for Sophie. The very last thing that we need is pity. Seriously. To us, this is normal. To Sophie, this is normal. We SO appreciate support, but we certainly don’t need to be pitied. We will always support Sophie in the things that are difficult for her because of the added challenges that she has, even if these seem like easy things for the “typical” child. We always temper this with some tough love, recognizing that she needs challenges in order to grow. Don’t we all? Can we see these as opportunities for growth? Our family’s challenges have produced a richness, a depth, a caliber of faith unseen before. Totally worth it. Although Sophie has many challenges, she demonstrates perseverance that takes my breath away. She has overcome more in her short little life than many will overcome in their whole lifetime. I’m so proud of my girl.

Last week we walked into the Clinic for Developmental Disabilities at Children’s Hospital for the first time in our lives. As we approached the door, the name shouted at me, trying to shatter my heart into a million pieces. It’s never a place I imagined I would be going, where I will likely frequent over the next 15 years of Sophie’s life. How could it be my child who has a disability? To me, she’s an absolute delight. Of course she is. And then it hits me. Talk about a paradigm shift. A developmental disability of any kind never means that a person is not lovely or is disqualified from any part of God’s good plan. Duh. Right? But here’s the thing about me. I’m an intelligent person, and throughout my life I’ve placed a lot of value and importance on being intelligent. I’m so thankful that God brought me to this place as a mother, this clinic, full of people who are SO immensely valuable, so lovely, with so much to offer, despite physical and mental impairments. Life is no longer about brains, beauty, or brawn. Our society uses those things to measure a person’s value, but God’s economy is different. In His world, we just need to touch others’ lives and spread his glory. We can do that regardless of our abilities or disabilities. Each person whom he has created, he has called valuable, and he has uniquely gifted to impact the world for him.

Whatever Sophie’s prognosis turns out to be, she will always be special, loved, and worthy of love, because God said so (and because Mama Bear says so!!). Maybe this seems like a simple truth, but it’s hitting me in a very real way right now in my life. We are so quick to assign value to ourselves and to others based upon all the wrong things. No matter what kind of brokenness a person carries, we treat them as valuable because God has said so. Jesus didn’t come to die for the intelligent, for those who have it all together, for the picture perfect family. From his own mouth he explained that it’s not the healthy who need a doctor, it’s the sick. He often criticized and admonished the religious leaders, the schooled men of his time. Just like me, they were on their high horse and didn’t get it. I’m done on this high horse. I’m done worry about whatever it is that God has for Sophie. My hands are open, and I’m just accepting whatever it is he has for us. No conditions. No fear.

To get back to the appointment with the developmental pediatrician, I’ll say I think I’ve found a kindred spirit, as Anne Shirley would say. As I voiced my questions about WSS to her, she reminded me of the wisdom that I have chosen to live by (before she even knew me) in these last four years: We can’t look into the future. From a medical standpoint, it’s not even possible. We can’t determine how Sophie’s possible syndrome might affect her in six months or a year or five years. We can’t plot out the roadmap because, within each syndrome, some children are mildly affected while some are profoundly affected. Sophie is doing really well right now, and all I need to do is be ok with right now. I have often said that I just need to be ok with today. It was so good to hear this doctor reiterate that truth to me. Even though she’s not familiar with Weidemann-Steiner Syndrome, I appreciate the wisdom she offered about navigating a potential disability.

Even for those who do not walk in my shoes, I realize this is truly what God wants for each of us: To be ok with today; to recognize enough grace for today; to stop worrying, planning, wondering about “then;” just to trust him. Can I be ok with where I am today? Yes. Can I just let him take care of tomorrow? Can I just let him care for those I love? Can I just let him be in control? Yes. Yes. Yes.

Last night and this morning I felt the dark cloud of discouragement, and despair, even, forming within my thoughts. Yesterday was Sophie’s IEP meeting, and while the team supporting and servicing her is totally awesome, it’s tough focusing on all the ways that she’s behind, or different, delayed, or disabled. Just hard. Period. She now has been labeled as a child with multiple areas of disability, receiving services in speech, occupational therapy for fine motor issues, and adaptive PE for gross motor issues. I confess, I thought of the many, many children born to all my friends, and so many of them are normal. On IEP days, I feel anger about that. I’ll admit it. When I’m forced to zero on on Sophie’s differences, when I’m forced to play the dangerous game of comparison, my heart feels troubled. I have to do it every now and then. But at the same time, I know it’s not where God wants me to live. This morning, I prayed, “Dear Father, just help me to be ok with today. That’s all I need to do. I just want to be ok with where we are today.” It’s a prayer I know I’ve prayed many times. I’m struggle, today, to be ok with Sophie’s differences. But I’m fighting to see and hold on to the many blessings that God is showing me in the midst of the struggle. So here they are…

Sophie is blessed to be part of an incredible program at Lancaster City Preschool, and to have a fabulous teacher and aide there. Sophie’s teacher spends a great deal of time working with her and doing those “extras” that all teachers do, for my child. She and her aide are sweet, and nurturing, and so exceptionally kind. Her private speech therapist and public school therapist, her occupational therapist, and her adaptive PE teacher are dynamic, down to earth, and skilled at what they do. She is blessed to be in their care.

Sophie has made friends. As I have struggled with this possible diagnosis for her, with her delays, even over several years, one of my biggest concerns was always how she would do with her peers, and how she would make friends, given her nonverbal status right now, and her differences to be seen down the road. But, she has made friends. Every day those friends greet her at the door of her preschool with smiles, giggles, and hugs. She is eager to see them each day. I absolutely love this, and it touches my heart that God has allowed me to see these friendships, speaking so directly to my own area of concern. Isn’t he good like that?

Better still … When we saw the geneticist, we learned that he has one other child patient in the central Ohio area who has Weidemann-Steiner Syndrom (WSS). Just one in this entire area. Yesterday at my IEP meeting at Sophie’s school, I learned that a child at Sophie’s school has this syndrome. Say, what?! Today, I met her mommy. And I found out that this little girl who has WSS was actually in Sophie’s class last year. I passed her mommy everyday in the halls and parking lot for almost the last year. What a sweet blessing. She is the other child that our geneticist diagnosed. Of all the places in Ohio that she could be, she’s here in Lancaster, at the exact same preschool as my daughter. Only God could do something like that for me. What an immense blessing. There are perhaps thought to be three children in this area who have the syndrome, one a baby, and it just so happens that these other two little girls – Sophie and Kloe – attend the same school. Just so happens. I know my Father sees me. I know he loves my child. I know he loves me.

God faithfully reminded me of the big picture this morning as I listened to some worship music:

“Come out of sadness
From wherever you’ve been
Come broken-hearted
Let rescue begin
Come find your mercy
Oh sinner come kneel
Earth has no sorrow
That heaven can’t heal” (https://www.youtube.com/watch?v=HELQyZNnR-g)

Sophie’s precious soul is eternal. Her life here may have brokenness. All our lives do have some form of brokenness. But in the wold that she was made for, there will be no more tears, no more brokenness. There is always hope. Though this journey may be difficult, I’m choosing to view it as my “light and momentary trials.” It’s not easy, and I’m not sure my heart is 100% there yet. But I’m making my choice: God is good, and he is faithful; he love us, and he sees us; he is always working for our good, even when our hearts feel like they’re breaking.

How Hairy are Your Elbows?

Hairy Elbow syndrome, they call it. A funny name, perhaps. But if you are the one with the extra elbow hair, it might not be so funny. Sophie has this excess hair, just in the forearm areas around her elbow. Interesting, that a genetic mutation could cause such a specific hair growth. It’s there. So it suggests Weidemann-Steiner syndrome. We will wait many months to learn whether or not this is the name for what our sweet girl carries with her for her time on this earth. It does explain all of her symptoms — nystagums, hypotonia, initial feeding problems, apraxia of speech, small stature, even facial features. It’s all there. Who knew? It’s a very rare syndrome that has only been described since 1989, and was only officially named in 2012, the year Sophie was born. As you can imagine, not a lot is known about this relatively new, rare syndrome, except its defining characteristics, many of which define our sweet girl.

So what’s the good news? Many have asked me how her appointment went, and I struggled to say, “It was good.” But, in the grand scheme, it actually really was. Some families receive news that the genetic mutation that is likely in their child is life-threatening, seizure inducing, or extremely life-altering. Weidemann-Steiner, from what we can discern, is none of that. Sometimes in severe cases it causes mental retardation, and my teacher’s heart breaks as I think of those students that I watched struggle with learning disabilities over the years. To think of Sophie going through those struggles. But, I refuse to live there. That is many years away for Sophie. I need only to be ok with where we are today. No grace for tomorrow yet, so I’m not going to be living there. And we don’t even know for sure whether or not she has this genetic mutation. But we know it’s a possibility. (We also feel like many of her delays are due in large part to her non-verbal status. It’s hard to learn your ABCs if you can’t sing the song, for example. I pray that things will indeed be very different once her speech catches up a bit.)

Even though some delays remain, the geneticist was very pleased with Sophie’s progress. And he is such a kind man. He enjoyed engaging with Sophie, rather than viewing her just as a case, a mystery to be solved, as some doctors would. We are blessed in the very doctor that God chose for us to see. In addition, this syndrome which he is testing for, as I said, is very rare, yet this doctor has, not one, but, two other patients with this syndrome. In this, I again see the loving hand of the Father, because if this doctor had not experienced this syndrome before, I wonder if he would even have considered it or noticed the characteristics.

Our kind doctor called this a sporadic and random genetic mutation, but I know with even more certainty that God chose this for Sophie, for our family. I cannot question his view of reality. I cannot see what is best for my family or my daughter the way the he can. Whether or not she has this certain syndrome, we have walked a different road with Sophie thus far than most parents will walk with their children, and our walk with her into adulthood will continue to be different. Still, I am convinced it is a road that our Father has lovingly chosen for us. I must believe that he sees what is best, even if I don’t understand it. I’m thankful that this syndrome will not threaten to take our child prematurely from our arms. I’m thankful to have my sweet Sophie girl here with me.

Perhaps by the first of the year we may have a name for this. And that may help us with insurance and with services down the road. But a name changes nothing. Sophie is who God created her to be, a beautiful, caring child, with a smashing testimony for his goodness and favor. We are blessed to be part of her story. We wait to see how it will next unfold. We wait to see what glimpse of God’s glory Sophie will get to present to her world.