Monthly Archives: April 2013

Undiagnosed Children’s Day 2013

SWAN USA Banner

I wrote a little bit earlier this week (this post here) about some of our feelings about being undiagnosed and the upcoming genetics appointment looming in the air, but today I’d also like to share this video from SWAN USA (Syndromes Without A Name) featuring Braxton and many other children on the journey to diagnosis in honor of Undiagnosed Children’s Day.

Today, we celebrate Braxton and all of the children around the world who are still searching for a diagnosis.  Although all of our stories are different, we all share so many of the same joys and sorrows.  We celebrate every bit of progress no matter how small, because to us none of it is small.  We all know just how hard our child worked to accomplish things like tracking an object as it moves across a room, sitting up, rolling over, forming sounds, turning the page in a book, pulling up to stand, taking a few bites of food…everything that may seem so insignificant to the average person is cause for triumphant celebration for us.  And to those of you who have joined us on this journey and celebrate all of these steps with us, we can’t tell you how much it means to us to have your love and support.  We all worry about what tomorrow will bring, if our child will even see tomorrow, if taking our child on a play date will bring them life altering sickness, even if it’s not mentioned out loud, I guarantee it’s always in the back of our mind.  But, as I said in my last post, you can’t focus on the bad. You must make a conscious effort to hold your head high and keep moving forward.  One thing is evident to me as I read other stories of undiagnosed families..we all take it day by day and cherish today because tomorrow is not promised.  As I read through blogs or follow facebook pages, there are so many smiles and there is so much love in each and every child.  Despite their circumstances these children have so much to smile about and have a way of touching the lives of so many.

Today, I encourage you to keep them in your heart and celebrate their lives.  Every day, they are beating the odds. Every day, they are changing the world. Every day, they keep fighting. And every day, they fill the lives of so many with so much joy and happiness.  Braxton truly brings us more joy and happiness than we could ever imagine, and I’m certain the same is true for all of these children.  Don’t feel sorry for any of them. Celebrate them. Pray for their continued progress and the continued strength of their family. Take time to get to know them and share their stories.  Pray for the science and technology to catch up to them before it’s too late.  Pray for answers. Pray for courage if answers cannot be found.  Thank you all so much for joining us on this journey. It’s far from over, and your love and support help keep us going. I simply cannot thank you enough.

To our fellow families along the journey, today we celebrate with you. Happy Undiagnosed Children’s Day, keep up the great work with your child, you are truly doing an amazing job! Much love, from our family to yours! ❤

And just in case you didn’t know, our blog now officially has a page on Facebook.  Come on over and ‘like’ our page to see even more on our story every day and meet some of our other precious friends on their own diagnostic journey.

Happy Undiagnosed Children's Day!

Happy Undiagnosed Children’s Day!

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Every Day, We Choose Joy

When life deals you a hand you didn’t expect, you can sit and be mad about all the things you think you’ve missed out on, or you can adapt and learn to embrace the life in front of you.  Sometimes, you go back and forth between those choices as you go through stages of grief and mourning the life that could have been, before you learn to love the life you have and make a choice to be happy.

We are often asked “how we do it?” or told how impressive our positive outlook is or that we’re special people so God gave us a special child.  Truth is, most days I don’t know what I’m doing or how I’m even functioning. Some days I’m not so positive, I sit and think about all the what-ifs and cry and worry.  And we aren’t special. We’re normal people, just like you.  It doesn’t take a special kind of person to parent a child with special needs, over time you BECOME who you NEED to be for the sake of your child.  We all have it in us to rise to the occasion, but it’s up to you to CHOOSE to do so.  The path to making that choice can be tumultuous and you go through every emotion possible, but eventually you CAN find your way to happiness.  I can’t promise every day is going to be happy. There will always be hard days.  But I CAN promise that the good will always outweigh the bad.

Perhaps that’s a promise to myself, since we have a very important appointment coming up next week, and it’s been weighing heavily on my heart.  It’s possibly the culmination of this journey and the beginning of the next, or possibly not.  In December, we had blood drawn and sent off for Exome Sequencing.  After many genetics tests, I was certain this was the one we needed, the one that was going to answer all of our questions.  When we arrived and the genetics counselor told me that in reality, this test has only provided a diagnosis for 20% of the patients who have had it done.  This was much lower than I thought and my hope was once again deflated.  Then, a few weeks later, I got a call from the genetics office telling me results for our test would be in by April 13th and that the doctor wanted us to come in for our results.  I told the lady we had an appointment already scheduled for the end of May and asked if we could just keep that one.  She put me on hold and came back and said “No, the doctor would like you here when your results come in.” I was baffled. Then, I was excited! They found something! No, there’s no way, it’s too soon, it’s only been a few weeks.  I spoke with one of our therapists, and she too, said there must be a diagnosis or at least a lead.  Again, I was full of hope and also impatience. But I wanted to know now, if they knew something why couldn’t they tell me? Perhaps they knew nothing at all? But surely….SURELY they would not call and move my appointment UP to tell me no news…would they?

Hard to believe that conversation took place 3 months ago.  I didn’t know what I was going to do to keep from going crazy. All day long, I thought about that conversation.  Every possible scenario played through my mind.  What if they found something? What if what they found is so rare it doesn’t give us any information at all? What if the doctor was just going to be out of the office on our original appointment so they moved us up? How was I going to keep from wondering every single day what that call meant. That night, I cried.  I broke down. It was all too much. So overwhelming. And just like I had before when we came out of NICU, I made a choice.  I chose joy.  The what-if game brings nothing but heartache.  My life is full of enough uncertainty daily, I didn’t need to consciously entertain it any more.

21 months without a diagnosis. 21 months of worry. 21 months of uncertainty, fear of the unknown, wondering if my child would wake up the next day, wondering if my child would crawl, wondering if he will walk, wondering if he will speak.  Does a diagnosis change any of that? No, probably not. Best case scenario is that he’s diagnosed with something that there is already research for so we have some kind of prognosis to go by.  Sure, that’s not entirely accurate, but it would at least give us some idea about what life might be like.  Something to plan for. Something to teach my daughter about so she’s not scared and so she understands what’s going on with her brother.  Something to say this is a completely random gene mutation and it wasn’t caused by anything YOU did. (Because, yes, there are some days I do blame myself. I must have done something for this to happen. In all likelihood I did nothing, but it’s a feeling that is hard to shake)  Something that says if I decide to have children again I don’t have to worry about this. Or possibly that it will happen again…but at least next time I’d be prepared. I’d have a much better idea of what to do.  Worst case scenario…no diagnosis.  A “sorry, we still don’t know what’s happening with your child, but hey come back in 6 months and we’ll see if he’s grown into his diagnosis.”  Where do we go from there? What other tests are there? I’m sure there’s more, but what if there isn’t.  What if we’re to be 20 years with no diagnosis waiting for the science to catch up and give us the answers we want.  No, I’m not being crazy. There are families 20 years in to the journey still trying to find a diagnosis for their child.

These are the thoughts I suppress, because if this is all I focused on, I’d be a wreck.  I’d miss out on all of the wonderful and amazing things Braxton is doing.  Focusing too long on the unknown and the negative causes you to lose focus on the positive aspects of life.  Braxton is HERE. Braxton is ALIVE. Braxton is crawling. Braxton is making progress. Braxton is laughing. He is full of life. And he is full of so much joy that it just pours out of him and into the lives of others.  These are the things I choose to focus on.  I’m not going to sit here and pretend that I’ve got it all figured out, because I don’t.  I’m not a better parent than you.  I’m not a stronger person than you.  If you were in my shoes, you’d do exactly what I’m doing. You, too, would rise to the occasion.  You’d be surprised to learn the strength you truly possess.  However, I don’t wish this on you. It’s quite the paradox. I love the life I live, but I wouldn’t wish it on anyone.  It’s hard and some days it sucks. The rewards are great, but the hours are long.  But, it’s all about perspective.  Not just the journey with a child with special needs.  Life in general. Life is about perspective. It’s about what YOU choose to make it about.  You can choose to focus on all the problems you have, or you can choose to see the brighter side.  You can choose pity, misery, and uncertainty, or you can choose to have hope, love and joy.  For us, it’s simple…each and every single day, we choose joy.  We choose to live day by day cherishing each day and all the good in every day.  Yes, sometimes, we too complain about every day woes, but every day at the end of the day as we watch our children laugh and play we are reminded that this life, no matter how hard it gets (or what next week’s results might bring us), is full of so much joy and happiness.

Choose Joy Everyday

This post was also published on The Mighty.

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Braxton and Mommy Day

BIG Smile for momma :)

BIG Smile for momma 🙂

It’s been a while since Braxton and I had a day to ourselves. Aileen is with her dad this weekend and Joseph is gone for business, so it was just Brax and me. We had a pretty laid back day, but I noticed so many new things today and in the past week or so.

Braxton is really starting to recognize us and show emotion when does. In the past few weeks, every time I go to pick him up from his crib I stand over him and when he looks up and notices me, he flashes a huge smile. When I put my hands out and motion “come here” he gets noticeably excited and immediately rolls over, pushes himself up to his knees, looks right up at me and puts his hands out as if to say “pick me up, mommy!” Sometimes he will pull himself to a stand and kind of bounce in excitement. If I have to be up early, that is certainly what I want to wake up to. This is a picture my sister took when she saw him, but this is pretty much exactly what he does when I stand over his crib in the morning.

I see you!

I see you!

We came downstairs so I could feed him and I also tried to give him some applesauce by mouth. Surprisingly, he actually ate a good amount for me! Braxton ate about an ounce at breakfast and just over an ounce at lunch and dinner…yayyy!! It may not seem like much, but this is HUGE for him! He hasn’t been eating much of anything for us. It’s so funny because he puts everything, and I do mean EVERYTHING (that isn’t food) directly into his mouth and tries to chew on it. But if he even sees anything at all food related, he purses his lips, turns his head, and even puts his hand out to push me away – and sometimes screams and cries if I continue trying. I’ve tried everything from baby food, cookies, crackers, cheetos, french fries, pudding, yogurt…and every one of them as soon as they get anywhere near his face he refuses. So, getting even a few bites in is a big deal, an entire ounce is a HUGE deal, indeed! Our Speech Therapist is still very diligently working with Braxton, too. I got this photo the other day…apparently eating is also pretty hard work! He fell asleep today, too, after I fed him.

Nap after a full belly

Nap after a full belly

 

Braxton and I played a whole lot today! He is so much more interactive now and playing with purpose!! He actually mouthed his toys a lot less today than he normally does. He stood up at his little piano and played using his hands instead of his mouth. He even leaned over to find the buttons on the back and played with those. We made silly sounds back and forth to each other and when he made me laugh, hearing me laugh made him also laugh..it was so cute. We read a few books and it’s evident that Braxton actually likes being read to. He will sit still in my lap as I read to him (ok, point out pictures and describe what we see, but still) and is turning the page all by himself! [Thanks to our great Occupational Therapist, he’s doing soooo great with that….little bit less cheating today by reaching over with his left hand haha smart kid.] He even made some great transfers from our couch to the coffee table and cruised around the table!! Pretty impressive, little man! Showing off all the things he’s been working so hard to accomplish with each of his therapists. He of course sat at his patio window and I sat with him and pointed out the trees and the birds as they came in to the yard. Nice to just sit and be still.

We also went to the grocery store today, and Brax was so funny. He was making all kinds of sounds as we walked around the store. Also, as I was waiting to check out, I had my hands on the grocery cart (like I always do) and Braxton kept reaching out to me. So I turned my hands over so he could pat them like he often does, but he started clasping his hands around them and trying to pull them toward him. Each time I moved my hands like I was moving toward him he smiled and got really excited. Then, he finally grabbed my hands and pulled them to his side, and I finally realized what he was doing…he wanted me to pick him up AND he was telling me!!! This is the 2nd time he’s done this to me at the store. I tickled him and gave him a big hug and kiss since it was my turn in line and I had to put the groceries on the belt and check out. It was so awesome to see this kind of communication though. This is SO much more than he’s ever done before. Around the house, he does crawl up to us and look up and raise his hands until we pick him up, and if we walk away he cries big ol’ crocodile tears! haha Seeing him do something similar while we were out and about though, was a whole new level.

Not too long ago, I arrived at Aileen’s school to pick her up and I got Braxton out of the car, as we walked in the school, he put his little face right up to me and I felt his lips on my cheek. He caught me by surprise and when I turned to look at him he flashed me his big smile. It was the sweetest and most heart melting non-verbal “I love you” ever. Seems like ever since I wrote the post about wanting Braxton to talk, he’s been doing more things to communicate with me. Kids can usually pick up on feelings and always seem to find a way to comfort you as if you told them exactly what was going on. Or perhaps, God is working through Braxton to remind me that everything is going to be ok. To just trust in Him and the plans He has for our life. Just because things aren’t exactly how I imagined they would be, doesn’t mean that things aren’t exactly as they should be. I know that everything happens for a reason, and although waiting for that reason to become apparent is often very difficult, I am reminded that the important thing is to cherish the moments now, to live in the present and let God take care of our future.

Today has been such a great day with Braxton. I see all of the great things Braxton is doing and my heart is just so overwhelmed with joy. The simplest things, like turning a page in a book, I now understand exactly how much work went in to that and how things like that we take for granted each and every day. Days like today make me hold Braxton as he falls asleep, and when he finally does I watch him and tears just stream down my face. Not tears of sadness, but tears of joy, so much joy, as I think about where he was and where he is today. To see him do all of the things so many led me to believe he would never do, is such a miracle. To realize that he IS in fact developing communication skills and learning to communicate with us is such an indescribable feeling. This little boy never ceases to amaze me, and I can’t wait to see what happens next.

Sweet little boy asleep in momma's arms <3

Sweet little boy asleep in momma’s arms ❤

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Surgery is No Easy Decision

Welp, we saw the Ocularplastic Surgeon today, and Braxton will definitely need surgery to have Jone’s Tubes placed in his tear ducts. BUT, the surgeon doesn’t think there is any need to rush in to the surgery just yet because the procedure is so high maintenance.

The doctor confirmed that Braxton’s upper tear ducts are absent and he agrees that his lower tear ducts are incredibly small, and probably still too small to try the silicone stents.  Since probing was already tried and unsuccessful, the next thing would be the silicone stents, but if a probe won’t go in a tube won’t either AND it’s more of a temporary fix, so it’s time to consider other options. I asked about possibly surgically opening the entrance to the tear ducts so we could do the silicone tubes, but the doctor said if the probe won’t go in, it’s likely the tear duct system isn’t functioning properly, so it wouldn’t help.  He explained another procedure called Dacryocystorhinostomy (DCR) Surgery that would be done IF Braxton had upper tear ducts. With DCR surgery they would break a small part of the nasal bone to redirect the tear duct to drain to the nose and bypass his natural tear duct system.  This is ideal, but Braxton doesn’t have the upper ducts. So, the only other option now is Jones Tubes. With the insertion of Jones tubes, a small piece of the nasal bone is still broken, but in addition, a GLASS tube would be inserted into the tear duct to physically construct a passage way for the eyes to drain.  Yes, you read that right, a glass tube will need to be inserted into my child’s face.  When we were told about this previously, I didn’t realize it was a glass tube! (Image source)

This. In Braxton's eye. o_O

This. In Braxton’s face. o_O

The doctor explained that he said the procedure is high maintenance, not because it requires a lot of care, but because it requires a lot of follow up and adjustments with complete sedation any time any adjustments need to be made since Braxton is so young.  In adults, the adjustments can typically be done in office.  Some of the issues he mentioned were having the tube fall out, the tube breaking, the tube being moved out of place and needing to be repositioned, etc.  My mind was reeling at this point and about 50 questions poured out. If it’s glass, does that mean just bumping it the wrong way can break it? If he falls on his face the tube can break? Can it break and just sit in there? What? It can? So how do we know if it’s sitting in there broken?! How can it just fall out? If it’s broken and part of it comes out can the other part injure him inside? What about recovery time?  etc, etc, etc….sooo many worst case scenarios immediately came to mind and poured out (better than my own tears instead I suppose) The doctor told me these were all valid scenarios which is why this is a decision that really need to sit down and consider heavily before proceeding.

What if it was your child? [If you are ever unsure, ask this question and you’ll get an honest opinion.] I did ask.  The doctor said if this was his child, he’d wait.  He said he would give the child more time to grow and wait until he could walk and some of the danger of falling, crawling into a wall, or bumping his face would be removed, but that he would definitely have the procedure done.  For Braxton, he said this is really probably the only option if the ducts don’t open on their own as he gets older, so we could give him more time and just deal with the goopy, crusty eyes for now, and re-visit the placements of the Jones Tubes in a couple years.  He said he didn’t feel the procedure was extremely critical right now, but that Brax would most likely need it done and that he would talk to our ophthalmologist to see what she thinks and why she was recommending the tubes now to begin with.  Ultimately, it is our decision, but he wants to speak to her directly to see realistically what can be expected.

*sigh*

Now, it’s time to weigh our options and decide what we are going to do for Braxton.  On the one hand, waiting is great. He doesn’t need it right now? Awesome, see ya in a few years doc. But on the other hand, Braxton wakes up with eyes crusted over at least 80% of the time. Even taking a nap, when he wakes up goo is all over his eye, making it impossible to see.  The skin around his eyes is so red and irritated from all the cleaning we do throughout the day with warm washcloths and baby wipes.  If I go anywhere near his eyes, he just freaks out.  He barely tolerates having his eyes cleaned anymore.  It kills me to see him like that.  While it doesn’t appear to cause him any physical pain, I know how I feel when my eyes are crusted from allergies or pink eye so I can’t imagine what he feels like! The doctor says he is fairly certain it doesn’t affect his vision, but I don’t see how it doesn’t. Surely, trying to see through goop all day can have some effect, no? OH, I dunno. All I do know is that I need to wrap my head around this and make some decisions.  We follow up with our ophthalmologist at the end of May and hopefully she can provide some more answers.

you can see some of the goopiness...it's usually worse, but today is a good day.

you can see some of the goopiness…it’s usually worse, but today is a good day.

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