Thursday, June 8, 2017

Sweet Surprise...

It's been only a little less than two months since we found out that Tessie Toodles has Rett Syndrome and to be perfectly honest, I've been good with the diagnosis and I've been struggling with the diagnosis.

I explained why I was good with it in my last blog post and I feel just as strongly today as I did when I wrote about it. Even more so since taking Tess to the Rett Clinic at Boston Children's Hospital and going over her whole life's history yet again, only this time with a Rett Specialist. He had asked a genetic counselor to join us to better explain how and why this had happened to Tess and by the end the only really big question I had, other than double checking that Blake and Ellie were at no higher risk of  a baby being born with a birth defect than anyone else as well as making sure this wasn't anything that could have been prevented (they're not and it's not), I came back to the question of HOW WAS THIS MISSED?

You see, in many cases young girls are often diagnosed with Rett Syndrome even with a negative genetic test result because they clinically present has having the symptoms of Rett Syndrome. Tess had nearly every symptom to the point where the geneticists were testing for Rett yet never considered it again once the test came back negative. No neurologists caught it, no geneticists (and mind you, this was at one of the world's best children's hospitals), and no other doctors caught it either. Tess just remained a mystery to us all.

Which brings me back to the HOW WAS THIS MISSED question. Neither the neurologist nor the genetic counselor could answer it and to be honest, were a bit baffled that Tess had gone this long without someone diagnosing her with Rett. So you see, I stand by my last post because by all accounts, Tess should have been diagnosed years ago but I was spared that until I was much better equipped to handle it. And I am forever grateful for the gift of not knowing until now.

Yet I am having my moments where I'm struggling with this diagnosis. The "Why my kid?", moments. Plus I've been doing a lot of reading and learning about Rett Syndrome and it's such a brutal disease. It really brings into sharp focus how much damage Rett has done to Tess's body and how very hard she works just to simply exist. I'm reading things that make me overwhelmingly sad for Tess but at the same time,  even more proud of her and her warrior spirit than I already was.

While at the Rett Clinic, the genetic counselor showed us a picture of what Tess's specific mutation looks like. Basically, we saw the exact spot of where it all went wrong. The coding her DNA took out and replaced with other stuff that was wrong. And for some reason, seeing it like that, how close she was to perfectly healthy except for this little blip of broken coding, well, honestly, I just wanted to burst into tears. It all came rushing at me. The years of fear, anxiety, fighting with schools, doctors, insurance companies to make sure she gets what she needs, surgeries, skills not gained, therapies, hospitals. So much damage from such a small error in her coding. And the thing with Rett Syndrome that really broke my heart was reading that the girls KNOW what they want/need to do but their bodies just can't do it and often, the harder they try to get their bodies to do something, the harder it becomes.

As I said, brutal. I mean, think about the last time you had an itch in a hard place to scratch and how bothersome that was. Now imagine that same struggle for every single thing in your life from wanting to scratch an itch to grab a toy to pet your dog to eating to talking. You KNOW what you want to do but your body simply can't. I can't begin to imagine the frustration, anger and even fear that would make anyone feel. You can't slap the mosquito that's biting you but you can feel the bite. You can't scratch but you can feel the itch. You can't stretch but you feel the cramp. You want to play with the toy but can't make your hand grab it. And this doesn't even take into account uncontrolled seizures, pneumonias, scoliosis, etc, etc, etc.

If I think too much like this I end up feeling super sad for Tess and that does no good to anyone, least of all Tessie.  She's happy and she's not to be pitied. Tessie loves her life. Is there suffering in it? You better believe it. But this kid just keeps smiling and laughing and facing each day, each moment, with a spirit that is to be envied not felt bad for and she keeps reminding me of that with each sassy little smirk or giggle.

I've also had a tough couple of weeks emotionally because we've had to make the very difficult decision to pull Tess out of school due to some issues we've had there and that has been upsetting. She also has the eighth grade send off tomorrow and I'm kind of dreading it. Tess's school day looks much, much different than the other kids and she really spends very little time in middle school so the "send off" doesn't begin to hold the same meaning for her, but I think it's important for her to participate in this with her classmates and thankfully, Ellie has offered to help Tess so that she can be a part of it.  At the same time, it's a visual reminder of just another thing that Rett has robbed from Tess.

But, as the saying goes, there's always good in every day if you take the time to look for it and in today's mail I got a gift from a Travels with Tessie follower. Ellie laughed and jokingly said, "Your first fan mail, mom!"  It was a pretty little cuff bracelet with the words, "though she be but little, she is fierce" stamped into it as well as a very kind and encouraging note. It really lifted my spirits just when I needed it, so Gigi, if you happen to read this post, I'm sending you a great big THANK YOU for the super sweet surprise that couldn't have arrived at a better time. And please tell Mr. K "hello" from me and that I said "Federalism" (he'll get the admittedly very old, joke).  :)

Sunday, April 16, 2017

God showed up...

I'm a huge movie buff. To the point that I often converse in lines from different movies. One of my favorite lines is from Forest Gump. Remember when Lt. Dan goes to help Forest work his shrimp boat and they can't seem to catch a break (or any shrimp for that matter) and Lt. Dan asks Forest, "Where the hell is this God of yours?", and Forest responds, "It's funny Lt. Dan said that, 'cause right then, God showed up."

I just love that last line. And it seems appropriate to share on Easter Sunday the information we found out, on Good Friday as it happens, that we've waited Tess's whole life to hear; what makes Tess, Tess.

But before I get to that I want to remind you of a blog post that I wrote way back when I first started writing the Travels with Tessie Toodles blog. It's the one called, Are you there God, it's me, Joanna?. (click here to read that post).

Basically I wrote about God showing up.

In that post I wrote about some very scary genetic testing that Tess was having done when she was around two years old. How I was basically sobbing hysterically while praying, praying, praying to God, but this time, instead of asking God to "fix" Tessie and make her healthy, I prayed for strength and courage and God's grace to lead me thru whatever may come.

And God showed up. Those big scary tests? They led to nothing. I had nothing to fear from them. They were not the reason why Tess was like she was. They got repeated several times because Tess seemed like such a candidate for a few of the diseases and the testing was done by some of the best doctors at one of the absolute best hospitals in the world, Boston Children's Hospital. But nope, negative on repeat.

You can only imagine my relief.  All of those scary and horrible things I had read about, I could now let go of and move on to hope instead of despair. The only down side was now we had run out of testing options available to us at that time and had to make some sort of peace with the not knowing. To me, it was a fair trade off. Not know, or know and be absolutely frozen with terror? I'll take option one please and thank you.

Fast forward to this past Friday. Because I am a firm believer in God's timing, I found it no coincidence that we found out Tess's genetic results on Good Friday. The day God gave his only begotten son out of his love for the world.

I was nervous when Dr. Craig called and she cleared her throat and said, "I never know how to approach parents with news like this so I'm just going to put it out there."

Then she told us and my very first thought was "God is good."

We talked about what it meant for Tess and us as a family and plans that would need to be made at some point as well as more meetings with palliative care and then we hung up.  I promptly burst into the big ugly cry because my brain went back to that space I was in twelve years ago when I was praying for strength and courage should one of those very scary tests come back positive. I felt as if no time had passed and I was THAT Joanna again, not the one I've become since. I was scared and sad until Charlie looked at me with tears in his eyes and said, "But what's changed? Nothing. Nothing has changed for us or Tess. We've been living this for almost fourteen years. We already live the scary, the terrible, the horrifying and we're still all okay. But now we know why. And that can only be a good thing."

And he was so right that my brain snapped right back to the present and I even laughed at how stupid my overreaction was. Although I have to say in my defense, I honestly think it was a type of PTSD response. Like a flashback in time that I just couldn't handle for a minute until Charlie brought me out of it with that one simple question.

What's changed?

Now you may be wondering how my initial reaction to hearing the news was, "God is good.", when my reaction/mini breakdown was so seemingly the opposite.  It's because Tess does in fact have one of those very scary diseases that she tested negative for all those many years ago. And God is good because I was given the GIFT of not knowing until I was strong enough to handle it. I was shown God's love and mercy because I got all of those years of living with hope instead of waiting in dread for losses. Blake, Ellie and Tessie got the mother they needed and deserved instead of a shell of a mom who was in a state of total devastation.

Because I was so sick myself at the time, fighting cancer and living with chronic pain, I was already scared. Add a child with a rare and progressive neurological disease into that mix, and I know in my heart, I would have not handled it well. At all.

God showed up way back then when those tests kept coming back negative and God showed up again on Friday when we did get them and I was in a place where I was strong enough to handle it.

Tess has Rett Syndrome. (click on it to learn more if you're so inclined)

Rett Syndrome is a progressive neurodevelopmental disorder that almost exclusively affects girls and is considered to be a rare disease. Because Tess can't just do things normally, not even in the rare disease category, one of the genetic mutations she has for this has never been reported before. We will meet with a geneticist in July to go over everything in more detail but from everything I've read, Tess is on the severe side. By a lot. But (thank you Charlie) I say again, "What's changed?" It's almost laughable to me now, to think back to the me then and how absolutely terrified I was of the words, "gtube, apraxia, loss of skills, breathing problems, heart problems, scoliosis, seizures, aspiration, etc etc". You know, all the words that are a part of our NORMAL daily lives now and have been for years.

Besides the peace of finally knowing, and already starting to find our "tribe" so to speak, in Facebook groups and online sites, I also got a gift I didn't even know I still needed; I did absolutely nothing to cause this and
could have done nothing to stop if from happening. I thought I had made my peace with this a while ago and I basically sort of, kind of, had until Dr. Craig told me that. I literally felt a weight slip off of my heart. I didn't cause this. I didn't hurt my baby. Tess's genetic coding is considered a "spontaneous mutation" and it most likely had already set itself up before I even knew I was pregnant.

In other words:

Tess was, in every single way, always meant to be Tess. She is imperfectly perfectly made. And to quote Ellie, "I get a lot of satisfaction from that."

This also means that Blake and Ellie are not at any higher risk for having a child born with a genetic defect than anyone else. It was just the 1 in 10,0000 luck of the draw.

I say again, God is good.

And God showed up and just keeps showing up. And we are blessed. I can't think of a better day than Easter to share Tess's, and our, big news.

Happy Easter, everyone!




















Sunday, March 26, 2017

Just another day...

I have a confession to make.

Today was Epilepsy Awareness Day and I didn't even acknowledge it. Some people also refer to it as Purple Day since that is the color for Epilepsy Awareness. They dress in purple and encourage others to as well. Many memes and statistics are posted on social media sites about epilepsy to raise awareness.

I literally did none of those things. Not one.

The only real excuse that I have as to why I blew if off is because every day is Epilepsy Awareness Day in my house. And to be honest, I'm sort of over it. I'm tired of it consuming my thoughts. I don't want to wear purple or post information because I already know too much and it's pretty scary. Granted, the posts are to educate those less familiar with it than I am but I just don't want to give it any more of my attention than it already demands from me.

Tess has had three seizures this week and the shortest one was close to five minutes long which meant rescue meds had to be given during each seizure and her heart rate and oxygen monitored. And bonus, she started a new fun game I like to call Scaring The Ever Loving Crap Out Of Mama.  This involves her not taking any breaths during some of the time that she is seizing.  As in, not breathing. At all. There was a moment during one of the seizures where I literally shook her by the upper body to try to make her take a breath. And I'm not super proud to admit this but at one point I was saying to her, "You need to breathe Tessie! You're scaring mama!". Because, you know, she was totally in control of what was happening and me saying that would snap her out of it. *snort*

So yeah, as I was saying, I'm over the whole Epilepsy Awareness thing. God Bless those who are totally into it and show their support but this girl is out. At least for this year. Maybe something will change and I'll have a fresh new attitude for next year like I have in the past.

Maybe not.

And let me also defend my sour puss attitude by saying that it seems like every day is an "Awareness Day" for Tess somehow.

For example:

Today is Epilepsy Awareness Day.
Yesterday was National Cerebral Palsy Awareness Day.
There is a Feeding Tube Awareness Week.
There is Rare Disease Day.
There is Undiagnosed Day.
There is Scoliosis Awareness Month.

You can see where I'm going with this, right? I mean, my little Tessie fits all those categories. That averages out to a disease or syndrome every other month, and I'm willing to bet I could find even more for her. (I literally just googled quickly and already found another.  Rare Chromosome Disorder Awareness Week. No joke.)

To all this I'm saying, Enough. I've had enough. How can anyone possibly keep up?

We are currently waiting on genetic testing that was done on Tess at the end of December. It's the "Cadillac" of genetic testing at this point in time and the neurologist who ordered it is very hopeful that we can finally, after almost fourteen years, get a real diagnosis for Tess. Or at the very least, the testing may reveal something that could point us in a better direction to try to treat her seizures. I have to admit to being excited, and a little scared since sometimes ignorance is bliss,  to get the results.

I'm willing to bet if we do get an "official" diagnosis I will be all over whatever "Awareness Day" is associated with it.

But for now I'm going to stick with the only "Awareness Day" that totally covers all of the "Awareness Days" mentioned above.

Her Birthday.

Lastly, I do want to give a shoutout to all the Epilepsy Warriors (and their families) out there. Not because it's Epilepsy Awareness Day but simply because this journey is unbelievably hard and we deserve a great big pat on the back for getting up every day to face it all again and again.

And to everyone else all I can say is, if you're lucky enough to never have had to experience seeing a loved one have a seizure, then, as the saying goes, you're lucky enough.







Friday, February 24, 2017

The cost of denial...

Last week's surgery was supposed to be simple. So simple in fact, it wasn't even technically considered a surgery; more a procedure.  And the only reason her doctor admitted Tess into the hospital following the surgery was because he was worried about all of the things that could go wrong for her post-op due to her many health challenges, not because of the surgery itself. So worried, in fact, that he admitted her into the intensive care unit because, as he put it, "If something starts to go wrong for her, it's going to be a situation that will require a one to one nurse and she just can't get that same attention on the regular floor.".

Personally, I thought he was being a bit overdramatic considering how minor the surgery was.

Once again I was right, and I was wrong.

Tess did superbly after surgery. Sore and tired but otherwise fine. We spent the night in the intensive care unit and by nine the next morning were prepping for her to be discharged with a clean bill of health.

Then, around eleven, literally an hour before we were walking out of there, Oreo started pacing around Tess's hospital bed and whimpering. She wouldn't stop until I relented and let her up on the bed to check on Tess. And at first that's all I thought she needed to do because she hadn't been able to get close to Tess since prior to surgery and Oreo starts to stress some when she doesn't get regular access and is able to get up close and personal with her girl. Then I really started to watch Oreo interact with Tess and a warning flare went off. Oreo went right up to Tess's mouth, licked at it, paused to stare at Tess, then flopped right on top of her with a heavy sigh. The type of sigh she tends to heave when Tess is in trouble.

Here's the other thing. As the morning had progressed I thought Tess was starting to look worse rather than better or even the same. But her vitals were good, better than good even. In the words of Tony the Tiger, they were "Great!" No fever, good respirations, normal heart rate. She was smiling and taking her food without any trouble. All the things that I use to determine how she is doing.

Still, she looked, "off".  And then there was the Oreo thing. I very briefly considered telling all the docs that came by on rounds that I was a little worried, but I had nothing concrete to back up my worry with. I couldn't very well say to them, "Oh, by the way, I know she is doing great and all but I think she looks a little off and her dog alerted on her in that special way she has when the shit's about to hit the fan with Tess."

Can you imagine how that would have gone over? I could, and preferring to be able to actually leave the hospital rather than be personally escorted to, say, the Psych Ward, I stowed my worry and we left the hospital.

Cut to us literally being on the ferry and almost home when Tess starts in with a really junky sounding cough. Oh crap. We ended up having to hook up our portable suction in our car to help her clear the junk from her mouth. By six that night Tess was going into full on coughing/retching jags and starting to truly vomit with them.

This is a bigger deal with Tess than with most kids for two reasons:

1: Tess had something called a Nissen Fundoplication surgery done on her when she was four that literally prevents her from being able to throw up, thereby preventing even more aspiration pneumonias. The fact that she was vomiting indicated that the Nissen had let go and now Tess's risk for aspirating and developing an aspiration pneumonia was a lot higher

2:Tess only gets nutrition thru her gtube . It's very regimented and she has very, very little room for error because she would get dehydrated very quickly not to mention she needs the calories and general nutrition. With her vomiting we had to stop feeding her which meant no fluids going in.

Because of this I immediately called her pediatrician. He thought it was probably post op nausea and agreed to keep her food/fluids off for the night and restart them in the morning but to call him if she developed any other symptoms in the night.

After we gave her an anti-nausea med, she seemed a lot better. By the next morning she still looked a little off but her vitals were good and she was smiling and "talking". All really good signs so I put her on Pedialyte for a while then switched her back to her regular food later that afternoon. Cut to around six and she was back to vomiting and looking terrible. We had to stop her fluids again. I spoke with "Dr. Jen" (our island doc) and she agreed Tess should be seen the next day so the next morning she stopped by and, naturally, Tess was looking okay. Once again, good vitals, smiling some, and back on her fluids. Jen and I came up with a plan and we felt pretty good about the fact that Tess seemed like she was maybe turning the corner and feeling better.

By that night we were back to her puking and no fluids. I did the math and realized she had only had in three days, less than the amount of fluids that she normally has in one. Not good. Her heart and oxygen alarm blared all night and by the next morning she was good and truly sick. Scary sick. I got in touch with "Dr. Jen" and told Charlie to expect to be told we had to go to the hospital with her.  Jen came by later in the morning and by that point, I was quite scared. Tess was barely able to keep her eyes open and when they were, they would roll up into the back of her head. Her breathing was super shallow, hitched sounding, and too fast. Super high heart rate as well but no fever. Jen had tried to reach the surgeon who had done Tess's surgery but he wasn't on call. So, for only the second time in the four years or so since Dr. Stephenson gave me his personal cell phone number, I asked Jen to call it. Didn't matter that it was Sunday and I knew for a fact he wasn't the pedi on call. Next to Jen, he knows Tess better than anyone else and I needed him to know what was going on. God love him, he called her back (after she had told us we had to go and had sent us on the boat to take Tess to the hospital) and he agreed 100% with her that Tess needed to be seen asap. His big worry besides dehydration? Sepsis.

Oh. My. God. I hadn't even thought of that and so now it was added to my already super long list of fears for her.

There were several moments on the ride across the bay that Charlie or I would quickly turn around to check on Tess because we thought she had stopped breathing. I am not even close to exaggerating when I tell you that her breathing was so hitched and shallow that there were times we couldn't even hear it. Jen had given us the option of going by ambulance but we thought Tess would be okay in our car. I need to remember how fast Tess crashes, and once again, I will not make the same choice next time.

We even looked at each other and said aloud, "We may have waited too long this time." I cannot begin to explain to you what that feels like but I wouldn't wish it on my worst enemy.

We were scared to death for her. And the guilt for me was so bad because I *knew* even before Jen saw her that she needed to get to the hospital and that we should have taken her on the first boat after the horrible night that she had had. But I wanted her to be okay so badly and to not have to go to the hospital again that I ignored my own gut instincts. So stupid. So so so stupid. Like not enough stupids in the world to tell you how stupid that was of me.

Long story (very long-sorry about that) short, Tess did in fact get diagnosed with sepsis, pretty severe dehydration, and a lower left lobe pneumonia. She was a very sick girl.  She was so sick in fact, that I didn't take even a single picture of her like I normally do when I post on FB that she is in the hospital because I was afraid that her sisters and grandparents would see how very bad she looked and, basically, be as scared as Charlie and I were. (It wasn't until late the next day that I took one with her Superlove and though she is weakly smiling at her sister, all I can see in that pic is how sick she looks. And that was her looking much better than the day before).

There was talk of transporting her to Maine Med but our local hospital felt like things were still under control and that they would move her quickly if she became any more unstable. They were very comforting and reassured us that everything had been caught early and her prognosis was really good.

Thankfully, Dr. Stephenson came in on all of his days off to look at "his girlfriend" himself. And even more thankfully, she responded quickly to the IV antibiotics and fluids they were quickly putting into her.

She stayed in Special Care for four days and got released under the condition that we would call immediately if she developed any symptoms at all, no matter how minor.

She's still not herself, but she is slowly getting better.

As for me, my guard is way up and I won't be ignoring my instincts where the Toodle Bug is concerned again.

And I won't ignore Oreo's either.




Saturday, January 14, 2017

Mr. Good Daddy....

There is one little story from Tess's most recent stay at the hospital that I haven't really told a lot of people yet. It's one that makes me feel both indignant and ready to burst into laughter in equal amounts, mood depending.

Have a seat and enjoy my little tale.  I know Charlie did.

As we were sitting there one morning, I believe it was day nine, the woman who had been cleaning Tess's room came in to do her daily routine. It had been Charlie's night to stay at the hospital but we were both sitting in what had become our regular chairs and we exchanged the polite "good morning and thank you for cleaning the room.", pleasantries when she decided that this was the perfect time to give us her opinion on our parenting. Or rather, on Charlie's and in a subtle, passive aggressive way, mine.

And I quote:

"You (she pointed at Charlie with a wide smile) always right there. I come in, you always there in that chair. She (pointed at me and instantly loses her smile), she come and go, but you always right there. You (points and smiles at him again) good daddy." She even nodded in affirmation to complete the point she was making then she mopped her way into the bathroom as I swung around in total disbelief at what she had just said to look at the "good daddy" and get his reaction. 

He went right back to reading whatever he had been reading when she came in.

What the what?!  

Me (whisper shrieking at him): "Did you hear what she just said?!" 

Him: "Yeah, she said I'm a good daddy."

Me: "Did you understand all of what she just said besides that?!"

Him: "Not really."

Because she had a pretty thick accent, Charlie hadn't picked up on everything she had said.  It was only after I had picked my jaw up off of the floor and told  him verbatim what she had just said and that basically, I, the clearly not so good mother, come and go at my leisure as he,  the "good daddy", sits constant vigil by his sick daughter's bedside, did he fully appreciate it. 

And boy oh boy, the man lapped it up like a kitten with cream.

I'm here to tell you, "good daddy" fluffed up and preened like a peacock while enjoying a pretty hearty laugh at my expense.

Meanwhile I was stuttering and stammering and still whisper shrieking at him, "How DARE she come in here and imply that I am hardly here and that I just come and go whenever the mood strikes as if I don't have a care in the world when I'm here every bit as much as you and we split our time here at night?! Plus you were gone for FIVE HOURS during the day yesterday! Where the hell was she then?! Maybe I should just tell your new girlfriend that! What nerve!" 

Charlie just looked at me and let me go on for a few minutes before chiming back in with this little gem:

"What can I say? You come and go. I'm always here. I'm a good daddy." 

And trust me when I tell you, he is going to make damn sure I am reminded of that on a regular basis. And if he should somehow forget, I know a cleaning lady at Maine Medical who will apparently be only to happy to tell me so herself.