“When everything goes to hell, the people who stand by you without flinching — they are your family. ”
– Jim Butcher
It’s been a long time since I’ve been here. Not just this corner of the internet. But here, in this place where we are grappling with yet another diagnosis… Yet another disability…. I feel like somehow we’re back at the beginning… learning a new language for a new set of doctors and therapies.
I have been talking to myself- trying to talk myself out of this fog…. often using the same words I have used when talking to so many other mothers when they were faced with a new diagnosis… “She is the same perfect little girl that she was ten minutes before the doctors walked into the room….”
Yes, the same…. But our world has just shifted onto a new axis. Over six years of learning how to advocate for my Deaf child…. Then adding in how to advocate for her as a Deaf Autistic child with mitochondrial disease and epilepsy…. The list goes on, and each time they added to it, I took a breath, put my head down and learned everything I could. Because it never changed anything about who she was. It only changed how we helped her.
They’ve handed us some scary stuff before. And we would take it and move on. Just keep swimming, right? But this one feels different. It’s not deadly, she’s not sick. But it feels different because it changes everything about what I thought I understood about her experiences. And it’s left me feeling like we are scrambling to make up lost time.
(But do you see what I did there? The diagnosis changes me more than it changes her. It changes my perceptions- hers are exactly what they were last week.)
It’s good to know. It is. And I am grateful for the teacher that was experienced enough to see it for exactly what it was, and then to actually say it directly to me, and immediately offer the help and expertise that we so clearly need. That took guts.
And I have to be honest here. I didn’t believe her, but I figured an evaluation would be an educational and informative experience, and then we would be on our way. But it didn’t happen that way.
Yesterday, after an evaluation at school my daughter was diagnosed with Cortical Vision Impairment, or CVI. It’s a type of blindness that is neurological, which is why her eye doctor never caught it. And it affects everything. It obviously affects her sight, but more it affects how she perceives the things that she can see. It slows her down when she is walking, because a threshold looks like an abyss to her. It complicates the way she eats her food because she can’t find it on her plate. It makes it difficult for her to recognize people by their faces alone. It alters her perception of every experience she has. And it makes it almost impossible for her to communicate with her iPad or picture cards. It is mind-numbing how hard this must make everything for her- on top of her other disabilities. And I had no idea.
I pride myself on being able to hold it together when talking to professionals about my kids. Just the facts- leave the emotions for when you are safe in the solitude of your parked car. But after they took my girl back to class and I was left alone in the room with the vision therapists as they scored her evaluation. I could feel the dam cracking. And when they started to explain just how much she cannot see, and how much it affects everything- especially her communication- I fell apart. Because, my God, I thought we were done. I thought we had all the stuff figured out. And here I am again, listening to professionals rattle off terms I had never heard of and how they affected my baby girl. And this one affects everything… Just everything… We are back at the beginning of a whole new journey and somehow we are already six years behind.
Almost always, when we get a diagnosis about my sweet girl, I am alone. And painfully so. It is by necessity- we have two other kids and my husband works, so, she and I go alone. I am left to remember all the details, answer all the questions, and deal with the results. Alone.
That wasn’t how it played out yesterday. Not at all. Without being asked, and even though they certainly had other things to do, her whole team spontaneously showed up. Her teacher, her speech therapist, her occupational therapist, her physical therapist, her behavioral aid, her interpreter, her principal…. Because they wanted to be there, for her, for me… To answer questions and learn how to help her. Because they have become family and they made it clear that we were in this together. And then last night when I emailed her school district’s assistant superintendent to let him know how the evaluation went, he was just as kind, and genuine in his concern for her best interests, offering whatever help she needed. The family we have found through this child over the years has been such a blessing. I’m not sure I will ever be able to express what that means to each of them- from the Early Intervention team all the way to her school team and even the school district, they have, in so many ways conquered the suffocating loneliness that this journey often creates.
Yes, this Diagnosis Day was different from all the other ones. Perhaps this one stings a little more, but this time, I really feel like we are not alone in this. I’m still trying to wrap my brain around what all of this means for my sweet girl. But, she is exactly the same perfect little girl that she was the day before yesterday. Nothing has changed except that the exceptional family of teachers and therapists that love her will now have the tools they need to help her move mountains.
If you want to learn a little more about CVI, this is a pretty straightforward laymen’s explanation. I am learning that I have a lot to learn.
“Where dark woods hide secrets,
And mountains are fierce and bold,
Deep waters hold reflections,
Of times lost long ago.
I will hear their every story,
Take hold of my own dream,
Be as strong as the seas are stormy,
And proud as an eagle’s scream.
I will ride, I will fly,
Chase the wind and touch the sky,
I will fly,
Chase the wind and touch the sky.”
~Julie Fowlis – Brave (Original Score)
I feel like we have walked up to the abyss and looked over the edge again. It feels like reliving the old nightmares. Test after test, gloom and doom, predictions and diagnoses….. “She’s losing strength,” one doctor tells me. “It’s disease progression,” he says matter of factly. “You should be expecting this, you know mitochondrial disease is progressive….”
“Developmental regression due to continuous seizure activity,” another one decides. Skill loss, strength loss, weight loss, gloom, gloom, doom, doom…. Test after test, medicine changes…..
And yet, from the familiar abyss comes a light. Suddenly she starts to wake up a bit from wherever she had been these last few months…. Suddenly the signs and the smile come back…. Suddenly the mischief maker is back in her, climbing over couches and communicating in new ways…. Suddenly, every intervention starts to work. The medicine settles in and starts to take effect, the nutritional changes seem to work, she is responding quickly to therapy, learning new skills and regaining some of what was lost…. She is showing us again, just how wrong they can be. She is back from wherever she was and it’s game on.
And then, in the blink of an eye, it all starts to slip away again. In a matter of days. Is it a virus? No…. Oh, God, she’s having more seizures. What changed? I keep asking myself… What did we do to screw this up? I am coming up empty. But somehow, this week, the seizures are back, and she is so, so tired. I can hear the march of my heart back to the abyss. Back to the fear…. But we can’t live there. We can’t. But I don’t want to push her. I couldn’t wake here today, try as I might…. As I made the phone calls to therapists to cancel her day, the fear snuck back in…. The fear I had been trying to keep at bay all week. And I don’t know what to do. So I come back here. Because maybe it’s safer here. I can’t let the fear take over in front of them.
My poor sweet boy. He didn’t know. Or maybe he did. Maybe that’s why he asked two weeks ago before she went into the hospital for yet another test, “Is she really sick?” “What’s wrong with her?” and I answered so carefully. He knew I was tiptoeing… He knew…. But he had to hear it from me… He kept pressing…. Carefully…. optimistically…. honestly…. If nothing else, we must be honest, or they will never trust us….. I had kept it from them…. All this time, I had tried so hard to keep the scariest of it from them….. The words slipped off my tongue and I could tell from his face he already knew, had already researched it on his magic computer….. Those two words…. Mitochondrial disease…. He knew what it meant….. I was left to tell him just how well she was doing now…. how much she has overcome- and she has…. so much…. But the pain in his face broke my heart all over again…..
But she has overcome so much. She has stayed so strong through all of the predictions, proving them wrong at every turn… Minor setbacks here and there, right? That’s all this is. Because here she is, healthy, smiling and thriving. Enjoying her days, teasing her brother and sister, snuggling with Mom and Dad… She is doing so well. But that familiar fear is always there…. waiting in the dark corners, sneaking in when she won’t wake, when she suddenly falls asleep at strange times, when she stares off for just a little too long….
You will notice me
I’ll be leavin’ my mark, like initials carved in an old oak tree
You wait and see
Maybe I’ll write like Twain wrote
Maybe I’ll paint like Van Gough,
Cure the common cold
I don’t know but I’m ready to start cause I know in my heart
I wanna do something that matters
Say something different
Something that sets the whole world on it’s ear
I wanna do somethin’ better, with the time I’ve been given
And I wanna try to touch a few hearts in this life
And leave nothin’ less than something that says I was here
I will prove you wrong
If you think I’m all talk, your in for a shock
Cause this stream’s too strong, and before too long
Maybe I’ll compose symphonies
Maybe I’ll fight for world peace
Cause I know it’s my destiny to leave more that a trace of myself in this
And I know that I, I will do more than just pass through this life
I’ll leave nothin’ less that somethin’ that says I was here, I was here, I
Was here, I was hereSongwriters: SCOTT, HILLARY DAWN / BURR, GARY SCOTT / SHAW, VICTORIA LYNN
They say that the tree of loving
Shine on me again
They say it grows on the bank of the river of suffering
Shine on me again, and
Weave, weave, weave me the sunshine out of the falling rain
Weave me the hope of a new tomorrow, fill my cup again
If only I could heal your sorrow
Shine on me again
I’d help you to find your new tomorrow
Shine on me again
– Peter, Paul and Mary
Funny what gifts can do.
It’s been difficult for our family these last few months. Some of it you already know, some of it simply isn’t my story to tell. But it’s been hard. The changes, the medical challenges, the unknowns…. There have a been a lot of days when I just get so overwhelmed by all of it. I just want to throw my hands in the air and….. And what? I mean, really, what? I can’t quit. This isn’t a gig that comes with that kind of option. So we keep going. We keep trying. We keep thinking of new ways to do things that seem to come so easily for other kids…. It shouldn’t be this hard… That kind of thinking can lead you to a dark place.
But it is hard. And that should be okay for us to say. That’s not to say we should wallow in a pool of self-pity. But we can admit that it’s hard and do it anyway. Because, really, what other choice is there?
It was a long, cold winter here. And in the midst of the cold and the dark, things started to take a frightening turn for Mary. Suddenly we were dealing with yet another new symptom. Suddenly, we had all kinds of medications. We were dealing with regressions when she had been doing so well just a few short months ago. Suddenly, so much hard-fought progress was lost…. It started to feel like spring would never come. It started to feel so damned lonely.
But in the middle of it all, an amazing group of volunteers showed up on our doorstep, telling Mary that they would grant her one wish. Any wish. Just one thing to make her happy. It was the Make a Wish people. Suddenly, there was a light to look forward to…
And then things got darker for a time. Mary and I were out shopping with her behavioral aide. Suddenly Mary lit up, a determined smile crossed her face and she wheeled herself over to a bed in the children’s furniture department. Since she couldn’t reach with her hands, she used her foot to tell us what she wanted…..
We giggled a bit, at her tenacity, but I was in awe of her determination to show us what she wanted. I was so proud of her, I posted it on my personal Facebook page. But I was going to have to juggle some finances to make it happen… And then suddenly, an old friend texted me: Mary’s bed will be there Tuesday. Grateful doesn’t begin to describe what we felt. That had been such a dark week. Until right then…
A few weeks later, in the midst of switching medications again and tracking seizures, regressions, studying evaluations for IEPs and sobbing over the frustrating age level comparisons, we got another phone call. A local children’s charity wanted to present Mary with a bike. Not just any bike. An adaptive bike built just for her, so she could do something so seemingly simple, that until that day had been a general impossibility: She could ride a bike outside with her brother and sister. Just a kid on her bike.
There’s been more, of course. There has been so much going on lately. We are in the midst of IEP season, of course. I approached the principal of Mary’s school the other day with a list of requests, not entirely sure if we could manage to do any of them. She looked over the list, and she said, “the short answer to all of this is YES.” And what about this one, I asked. “Well, we’ve never done it before, but that doesn’t mean that we can’t do it for Mary.” We just had to clear it with the school district. And their answer melted me. Because I hear the horror stories. I know about the big battles with school districts and schools. But this man said to me, “so long as we are doing it to support your daughter, then I’m all for it.”
We can’t fix every medical problem that our kids have. For too many of our kids a cure just won’t come. But hope, that’s something different. So many times this year, we have been lifted. When the load seemed unbearable, someone would step in and without saying a word, they would lift some of that weight, refill our cup of hope. It’s an amazing and humbling experience.
Tomorrow our city is having a fundraising walk. It will benefit many different organizations, including Make a Wish, the Variety Children’s Charity that donated Mary’s bike, as well as Mary’s school and the rehabilitation center, where she gets so much of her therapy, that referred her to these amazing charities. So when you’re watching the news tonight, and you start to feel helpless and frustrated with all the ugliness out there, maybe you might want to take a minute and find one of these charities and make a small donation (tell them Mary sent you.😉 ). Or go help your neighbor across the street with a nice casserole or a bunch of flowers. You may not be able to solve their problems, but you may never know just how much that small gesture may mean to them.
Only you can climb that mountain
Shine on me again
If you want a drink from the golden fountain
Shine on me again
Weave, weave, weave me the sunshine out of the falling rain
Weave me the hope of a new tomorrow, fill my cup again.
-Peter, Paul and Mary
Well, some say life will beat you down
Break your heart, it’ll steal your crown
So I’ve started out for God knows where
I guess I’ll know when I get there
I’m learnin’ to fly
(Learnin’ to fly)
Around the clouds
But what goes up
(Learnin’ to fly)
Must come down
Must come down but
I’m learnin’ to fly
(Learnin’ to fly)
But I ain’t got wings
(Learnin’ to fly)
Is the hardest thing
Hardest thing,-Lady Antebellum, Learning to Fly
Let us be silent, that we may hear the whispers of the gods.
-Ralph Waldo Emerson
(Image is of our Christmas tree on Christmas morning surrounded by many festively wrapped packages)
I’ve been quiet here for a while. It’s not that I have had nothing to say, but more that I’ve been pondering on how to say it. It’s been a whirlwind few months for us. We got back from Disney World about 3 months ago. Then it was Mary’s birthday and the rapid succession of doctor’s appointments that usually follows that. It’s been a lot to process, as it often is. So I’ve avoided writing here because I’m still not sure what to say….
We’ve added some new members to our team. New folks with new ideas. The new ideas all circle back to the original though, and in going back over various test results, we have been forced – all of us- to admit that Mary does, in fact, have mitochondrial disease. It is secondary, meaning it is caused by something else- some other, still unknown, genetic syndrome. But, still, there it is, clearly indicated on a skin biopsy that she had done a few years ago. And there it is in all of her symptoms. I’ve been wrestling with this one a lot recently. After so much testing, so many specialists, it was almost easy to tell myself that this mito thing was abstract and unreal. Because until they actually wrote it down on her file, then, I could deny it. I told my family not to get all worked up about it- after all it’s secondary, right? But it still scares the crap out of me. It’s still there, every bit as malicious and dangerous as if it were called anything else.
“She’s stable for now”, they tell me. “Enjoy this.” What do I do with that? The problem with mitochondrial disease is that there is no victory over it. My mother is a ten year cancer survivor. That is amazing. But there will be no victory over mitochondrial disease for Mary in that sense. The truth is, that while many kids will remain stable for some time, even years, it is progressive, and life-limiting. And there is no cure. And after years of wondering, and denying, the truth is, that this was the card we were dealt. There’s a facebook group of mitochondrial families that I follow. Whenever a child dies, a green candle goes up in my news feed. As the colder weather has moved in, those candles have been coming more frequently. A reminder of how precarious all of this is.
The thing that I think a lot of folks have trouble wrapping their heads around is that not all mito kids start out really sick. They don’t all die by age two. A lot of them are seemingly minimally affected. Until one day they come down with the flu or a bad cold that they just couldn’t fight off. The exertion of the fight suddenly leaves their bodies exhausted and vulnerable, and even in organ failure. From a cold. From the flu. And there is just no way to know which infection is going to trigger it…. As a parent, it’s an exhausting, terrifyingly helpless feeling.
As I write this, Mary is upstairs sleeping. She’s been sleeping a lot these last few months. She’s fighting off her second cold of the season, thanks to preschool germs. She’s been sick. She’s been tired. It’s been hard. She’s feeling a little better today, thanks to a hefty dose of antibiotics, but we’re laying low. We were supposed to be visiting family and friends in New England today. We were supposed to be at a family Christmas party. I cancelled the trip. It was too big of a risk. She needs the rest. I’ve pushed her in the past, and it’s never been a good idea. Besides that I realized that I would likely be exposing her to even more germs by going up there. It wasn’t an easy choice. I want her to be able to get to know the family and friends that we have up there. I want so badly for them to get to know her. To really know her. To see her. Time is so precious….
I know they say they understand, but I can hear the disappointment and frustration in their voices on the phone as I try to tell them why we can’t come. I know they think I’m overprotective, or maybe just lazy in not wanting to make the drive…. What they can’t possibly understand, and what I’m afraid to speak out loud, is the sheer terror that consumes me when I hear her sniffle, or sneeze. Then panic and helplessness that I feel when she gets sick. They can’t understand the anger I feel when someone neglects to warn us that they are fighting off a cold when they make plans with us. Because they don’t live it. They don’t stay up all night holding her while she struggles to catch her breath. They don’t snuggle with her on the couch when she’s too tired to open her Christmas gifts on Christmas morning. They don’t see the blood test results as they come back in, showing how hard her little body is fighting. They don’t see the regressions that often follow her illnesses. But I can’t let myself live there long. I can’t dwell on the scary. I can’t take the time to worry about the judgment of others. Because she needs me. and so do my other children. They need me to be fully present for them.
So, now that we know a little about what we’re up against, I guess the question is what do we do? I guess the answer to that is, we use the time we were given. We make the most of it. We relish the cuddles. We soak up the laughter, we make more memories together than we ever thought we could. We use as much hand sanitizer as we can and pack as many little adventures into our lives as possible.
And so it is that we will spend this Christmas vacation cuddling on the couch with Disney movies, or playing with our new toys and books under the Christmas tree. There will be no big family gatherings for us this year- and a part of me will be grateful for the silence, for the break, for the time. We have to recharge our batteries for a brand new year of adventures, after all.
I hope that you and your families are enjoying a peaceful and joyous Christmas season.
(Image is of Mary laying on the floor in front of the Christmas tree, using her new, very large, stuffed dog as a pillow as she plays with the sensory ribbon barcelets she got for Christmas.)
“I have come to accept the feeling of not knowing where I am going. And I have trained myself to love it. Because it is only when we are suspended in mid-air with no landing in sight, that we force our wings to unravel and alas begin our flight. And as we fly, we still may not know where we are going to. But the miracle is in the unfolding of the wings. You may not know where you’re going, but you know that so long as you spread your wings, the winds will carry you.” ― C. JoyBell C.
(Image is of Mary trick or treating at school with one of her iPads mounted to her wheelchair. On the screen are two icons, one is “Happy Halloween, and the other is “Trick or Treat.”)
We’ve been struggling with this whole language thing for years. I know she has so much to say, so many thoughts and ideas just churning in that beautiful mind of hers…. We’ve tried speech, American Sign Language, PECS, and multiple iPad programs. The iPad is the most consistent formal language we have from her.
So much is going on in that beautiful mind. You can see it… Just watching her think is a gift…. But what is she thinking? What wonderful little morsels of dreams are swirling around in her head? She has no way to tell me….
So today, after three years of working with the iPad on our own, we finally went for a formal AAC evaluation. She has had the same program for three years. Over the years, the data has built up, and the program doesn’t run like it used to, but there are so many more communication options for her in it now. It has been a gift to have this tool- to have some method of proving to teachers that, yes, she does know what they are talking about, and yes, she is understanding the concepts… But still, she cannot navigate it independently, so we have to guess at the right questions to ask… Her hands fail her frequently, isolating that pointer finger is still a major hurdle…. It’s the best we have, but it is far from perfect.
Today we met with the experts. Years of speech therapists, finally we found our way to the AAC specialists. At first I resisted, thinking how much more therapy could we cram into a day? We already have an AAC program….. But then I suddenly became oddly hopeful- maybe they would have a silver bullet- some mind-reading device that could finally unlock the door for her….
We were met by two speech therapists, an OT and a grad student. Our feeding therapist stopped in as well, and Mary’s behavioral aid came along for the evaluation. It was clear that this was all hands on deck. And they saw clearly where the issues were. They were impressed by her tenacity, by her intelligence, by her joy. But they could see what in many ways I feared. This was not necessarily the autism that was keeping her from progressing on the iPad- it was physical – neurological. It was not some nuance that could be taught or quickly overcome with a different program or device. Her wrists are weak and the effort it takes to lift them at the angle needed to position her index finger in just the right way to strike the button is exhausting and frustrating. Low muscle tone and lingering hand apraxias taunt her. Because she has a thin corpus callosum, it has always been difficult for her to bring her hand across the midline of her body, leaving the buttons on the left side of the screen frustratingly far from her right hand. And they pointed out to me that in many cases, children with this type of brain structure may not know which hand is going to come up when they decide to lift a hand to make a selection- an added level of frustration and motor planning for her to overcome. The visual field may also be overwhelming to her on pages with too many choices. She has always been fairly consistent when choosing from a field of 3 and has worked her way up in some areas to a field of 8, but after three years, that’s as far as we have gotten. It is far from conversational or useful in terms of navigating the app independently.
I get angry thinking of the amount of effort it takes for her to answer a simple question with yes, or no, or more, or finished. There’s the processing time it takes for her beautifully wired autistic brain to translate a question and formulate an answer. But then she has to overcome so many physical barriers to simply lift just one hand, balance her torso, lift her wrist, make a fist and extend just one finger and somehow manage to guide that finger to the correct response on the screen, assuming that the word she wants to say is even on the screen and she can find it. I have to find an easier way for her. There has to be a way…..
They did have some suggestions, some wrist support to prompt her to hold her wrist up a little better. More support for her when she is seated so that she feels more secure lifting an arm to make a choice. A list of physical accommodations. A slew of new devices and programs to look at. An overwhelming amount of possibilities, but a lot of caution, a lot of hesitation… and no silver bullet, no magic key. We will start a new round of speech therapy with a new team of therapists, pairing a speech therapist with an occupational therapist in intensive sessions….
As kindergarten looms on the horizon, I am starting to feel a renewed sense of urgency to find some reliable means of communication. I fear the hushed conversations among some members of her own educational team, I am tired of screaming into the wind that she understands all of it, she knows the material, please stop re-teaching her the same concepts she has already learned, over and over again…. But with no means to tell them herself, they brush me off as an overly optimistic mama bear, someone living in denial.
She is amazing. She is smart. She is attentive. She wants to learn so badly. I feel so much like I have failed her here, in not being able to find a way to uncover her voice, to give her the means to prove herself, because sadly the burden of proof somehow falls to a five year old little girl. It is we who should be ashamed that we have not yet given her the means to communicate with us. But now, with a new team filled with new promise, I am hopeful we will find something. What that will look like, I have no idea. But I do have hope, because I have her. She is a beautiful, joyful, loving soul filled with promise, filled with stories and ideas, and I know that someday those ideas will find their way out. For now, I suppose the best we can do is to just enjoy the excitement of watching her unfold her wings. And that is a gift.
(Image is of Mary, dressed as Princess Anna for Halloween. She is holding a leaf in her hand and looking up towards the trees as though to thank them for this precious gift. The sun is setting on the forest behind her. )