Tag Archives: support

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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Hey you, yes YOU, you’re awesome!

Big sister showing love for her brother :)

Big sister showing love for her brother 🙂

Rare Disease Day is winding down, but one thing that isn’t, is our gratitude.  Just a quick post to thank each and every one of you who visited the site, read our posts, clicked around to other posts, shared the blog on facebook, changed your facebook profile/cover picture…the support is truly overwhelming.  Our friends and family never cease to amaze me. I tried to ‘like’ or comment on every single share or picture change, but I honestly lost track, so if I missed you, I’m sorry, but I do thank you from the bottom of my heart! Joseph and I BOTH thank you!

I really hope this doesn’t start to sound old or fake, but we really are so very grateful to you all for sharing our story.  We think Braxton is amazing, but we’re his parents and we’re supposed to, so to know YOU think he’s amazing too, well that just warms our heart.

Continue spreading the word, because Braxton has so much to teach the world.  Destined for greatness.

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Rare Disease Day

Rare Disease Day 2013Today is the 6th Annual Rare Disease Day.  There are 6,000 – 8,000 rare diseases currently identified.  A rare disease in the US is classified as a disease that affects fewer than 200,000 people.  In Europe, it is classified as a disease that affects 1 in 2,000 people.  For many, having a name to the syndrome doesn’t necessarily mean it’s a walk in the park.  Since so few people are affected there is often not enough information available to provide a prognosis for many patients.

Then, you have kids like Braxton.  So rare, that they do not have a diagnosis.  Whatever it is that is affecting Braxton, does not yet have a name.  There are no real statistics available for the number of children who are undiagnosed, but I’m certain Braxton is not alone.  Often times a disease is so rare a child is classified as “undiagnosed” because the specialists they are seeing are not familiar with the disease.  Or the child doesn’t grow in to the diagnosis until later in life because key identifiers are not present at birth.   There are also identifiers that could indicate so many diseases that they really aren’t useful in diagnosis.  It is also possible to have symptoms from two different syndromes that make a diagnosis even more difficult! Genetics is a very tangled web of possibilities! Even the Exome Sequencing test we did really only has a diagnostic rate of about 20%  Our bodies have over 20,000 genes and currently, researchers only know what about 5,000 of them do for us.  Thankfully, technology is constantly advancing, so it’s possible to find a genetic mutation in a gene whose function may not be learned until later on in a child’s life.

I’m so amazed by the medical community and how quickly things develop and change.  Even in Braxton’s 20 months, things have changed.  Exome sequencing was very limited at first, and it is now being offered by more labs and even being covered by insurance.  That’s huge!! Advancements like this are made possible by raising awareness among the general public who can in turn help parents to advocate for legislation and services to help those with rare and undiagnosed diseases.

RareDiseaseDayCover

That’s what this is all about.  That is why I write.  I keep this blog to continue to promote awareness for the many kids like Braxton.  You never expect something like this to happen, and nothing prepares you for it.  The baby books don’t ever talk about the possibility of having a genetic syndrome.  Reading about it now from us and others who live daily with this diagnosis, might prepare you one day when you find yourself scared that your child is being sent to NICU.  Hopefully, a medical professional finds this blog and learns more about Braxton and eventually contacts us with a test that can possibly diagnose Braxton.  Maybe a medical student finds it and when she begins practicing she comes across a kiddo like Braxton and she can say, Hey, I’m familiar with this.  This isn’t so scary, overwhelming, or what have you. Maybe a legislator finds it and says, wow THIS is what Medicaid pays for, or it’s people like this who NEED more services, and together we CAN do something about it.  The more stories that are put out for the public, the more awareness we can raise for a very real NEED!

Wear That You Care for Braxton

There are over 60 countries participating in World Rare Disease Day 2013 – that is simply phenomenal.  Whether you are a “One and Only” or have a disease that only affects 200 people worldwide, TOGETHER our voice is loud and we can ALL make a difference by standing together to bring awareness.You can join us in supporting Rare Disease Day by visiting the official website and also by visiting the Global Genes Project to learn about the “Wear That You Care” Campaign.  I encourage you to wear your favorite jeans (yes, a play on ‘genes’), share our story, or the story of countless others who are living with a rare disease…if just one more person knows about rare syndromes, then today would be a success.

Here is the official video for Rare Disease Day:

And here is the video from the Texas Mommies of Miracles showing off our miracles living with Rare Diseases and the “Hope” they give us.

Thank you for your support and helping us spread the word!

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FTA Week, Day 7: Tubie Humor

FTA Week Flyer

FTA Week Flyer

Today’s Topic: Sometimes you just have to laugh: Tubie humor – we all have those funny tube feeding moments, what are yours?

Laughter really is the best medicine.  Many will learn about our story and think “Oh man, they have it rough” and wonder how we carry on.  Braxton is so happy and full of life, love and laughter – so is our home.  Joseph is probably the funnier one of the two of us and he definitely makes it his job to make sure we are laughing.  I can remember some of our most difficult times during our NICU stay or at the first genetics appointment (genetics can be pretty scary) and there was Joseph cracking jokes.  As much as I wanted to be sad, mad, or anything but happy – I couldn’t help but smile and laugh.  He may have the gift, but sometimes funny just happens around here. Especially when it comes to feeding Braxton!

  • Nothing funnier than shooting food across the room.  When we feed Braxton with the syringe, sometimes a little air gets in and to get it out, you turn the syringe upside down so the air is at the tip and you LIGHTLY press the end of the plunger until the air is all out.  Welllllll….sometimes if you push too much, food shoots out and gets all over everything! I’ve shot food from the kitchen across the living room and yes, even up to the ceiling.  I was feeding Braxton once and went to get air out of the syringe and ended up shooting food in the air and naturally, what goes up must come down…it landed all over Braxton.  Poor kid had food streaked across his face and in his hair.  As frustrated as I was, I just had to laugh as I reached over for the wipes to clean him off. [Actually, this has happened multiple times…oops]
  • When I started the blended diet I made some pretty stupid mistakes. The first time I got through the ENTIRE blending process and started measuring out the bottles.  On my third one I realized I didn’t even add the infant cereal to the blend.  I had to pour all the food back in the blender, add the cereal, blend and then re-measure.  Geez louise!
  • I also thought it was a good idea to prepare Braxton’s food while I was half asleep.  The recipe calls for 2 tablespoons of olive oil.  I had the measuring spoon in one hand and the oil in the other…I tipped the bottle of oil to measure out what I needed annnnnd tipped a little too far and there was oil all over the place.
  • If anyone heard some of the things we say in our house they’d think we’re crazy – “Welp, we fed the bed again.” [Braxton’s tubing somehow detached – or we never attached it – and got formula all over the bed….ugh], “Braxton, come here so I can tuck your tail in!” [Trying to catch Braxton to tuck his tubing in so it doesn’t rip out, “Ugh I wish you had a g-tube!” [Fighting Aileen, our non-tubie, to take her meds and secretly wishing she had a tube so I could avoid the fight], “Braxton is leaking all over the place!” [medicine port opened up, or forgot to clamp the tubing and the port opens and gets food all over], “What do you mean there’s no flow!?” [Yelling at the feeding pump for giving me an error message when I KNOW the clamp is open and there are no kinks in the line..oh, wait…actually, I never opened the clamp.] the list goes on….we’ve found ourselves saying some pretty odd things
  • Trying to troubleshoot why you can’t push food through the tube and you check the line, reposition the child, check the line again, press the syringe, check the line again and finally realize you never opened the clamp.  It’s also fun when you forget to open the clamp, push on the syringe and the pressure shoots the extension off and formula splashes back at your face. *sigh* yes, it’s happened. More than once.
  • Me: “We really should donate this formula that we aren’t going to use anymore.” Joseph: “Hellll nahhh, we need to be prepared for the Zombie Apocalypse” — haha we’ll all be living off Compleat Pediatric Formula if that ever happened.  We’ve got quite the stock pile now.
  • Driving all the way to the babysitter’s house, go to give her a refresher course on how to feed and say “so you connect this red tip to this extension — where’s the extension? Ughhhh we left it at home.” Driving all the way back home and back to the sitter…”Ok let’s try this again.” — I have extra supplies stashed in the car now.

I’m sure there are more, but you get the idea.  You can always find a reason to laugh even in the most difficult situations.  Don’t underestimate the power of laughter, and more importantly don’t be afraid to laugh through a tough situation.  It’s often difficult to see how this could be funny later, but trust me, it will be.

Braxton and I thank you for all of your support.

Braxton and I thank you for all of your support.

Thank you all so much for following along with me this week during Feeding Tube Awareness Week!! I appreciate each and every one of you who shared any of our posts and helped to bring awareness about feeding tubes! We can help to raise awareness all year long though! Please continuing sharing our story and the resources we blog about, you never know who it might help.  If we can help even one person along this journey, then we are completely grateful.

For all of this week’s post, click here. Happy Feeding Tube Awareness Week!

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FTA Week, Day 6: Outreach

Today’s Topic: Outreach, what are you doing to doing to spread awareness?

In addition to our daily posts, Tuesday, we had the opportunity to visit our local news station to share our story. If you missed that, check here.

Tuesday's Interview

Tuesday’s Interview

I have to say that I absolutely did not expect the response we have received. My goal was to help promote Feeding Tube Awareness, and while we seem to have accomplished that, it seems to have meant so much more than that! I wanted to share our story so that whenever we feed Braxton in public, we could do so without the ugly glares from people wondering what the heck we were doing. None of it was for fame or any kind of notoriety. Since the newscast aired, we had almost 800 views that day and days later we are still getting quite a few. A number of organizations also shared the story on Facebook, so we received much more coverage than just locally. I’ve received countless e-mails and facebook messages from families thanking us for sharing our story, thanking us for giving kids like theirs a voice, thanking the news station for putting our story on in the first place, thanking us for giving them hope, for inspiring them to continue on their journey. Needless to say, we have been deeply moved by the response. This is all so much more than we ever expected. I honestly don’t think of us as doing anything extraordinary. I feel like most parents would rise to the challenge and do whatever it takes for their kids. But if by us living our “normal” life brings you any kind of hope or inspiration, I’m greatly humbled and glad that our story could be that for you.

A couple days after our news interview, I was contacted by an online publication in the UK to do an interview for their site, Success Circuit, which shares inspirational stories from all over. You can see that interview here: Braxton’s Journey – A Story of Young Bravery Many thanks to Michelle of Success Circuit for contacting us for the interview, and working quickly to have it published on their site.

We have had quite the journey thus far with many ups and downs. We’ve been physically, emotionally, and spiritually broken. Somewhere along the way, something changed. We gained acceptance of our situation and learned how to make the best of it. All you can do is take it day by day. Don’t get so consumed with the future that you forget to live in the present. Thank YOU all for reaching out to us and sharing your own stories with us. Thank you for showing interest in our story, I hope you continue with us on this journey. Never lose hope. And remember that you are not alone.

Never Lose Hope

Never Lose Hope

 

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I promised a Q&A blog today, so here are a few questions we’ve received this week:

  • How long will Braxton need the feeding tube? Honestly, we don’t know. Braxton was doing so well eating by mouth and just regressed when he got pneumonia and started vomiting every feed. It’s been about 5 months since then and we are starting to see some progress with oral feeding, but certainly not enough to remove the tube. As long as Braxton is happy, healthy and growing we are glad to have him keep the tube. We are actively working with a fantastic speech therapist, and I’m confident he’ll get there one day, I just have no clue when that is.
  • Are there any activities he has to avoid because of the tube? NOPE! He can do anything within his abilities. We either remove the extension tubing or tuck it in his shirt so it doesn’t get caught on anything while he is crawling around, but there really are no limits because of the feeding tube.
  • How often do you change the button? The G-Tube has to grow with Braxton. We follow-up with his pediatric surgeon about 3 months after we change to a new button. In the beginning, we changed sizes quite a bit because he was growing so quickly. Now, we’ve had the same size for about 6 months. As he gains weight the button needs to be changed. The length of the stoma is the only thing that changes. The doctor orders us a new button with a longer stoma so that it reaches all the way to his stomach.
  • Do you change it yourself? We do actually. The Mic-Key button can easily be changed at home. The next time we have to do a button change, I’ll be sure to make a video and share it with you. The first time we had to put the button in was pretty scary because we pulled it out 😦 The good thing was that we got it out of the way early so we learned what needed to be done.
  • How do you make his food? I need to do a video for this too. Since we switched to the blended diet, we are now able to feed him real food. I was using pureed baby foods at first and still do, but I’ve also started to buy regular chicken and beef, boil it and then puree it in our blender. I freeze the meats in ice cube trays and then put the cubes in freezer bags until I need them. I do the same with fruits and veggies. For our other posts on the blended diet, click here.
  • Does Aileen help you? One of Aileen’s hopes was to feed Braxton with a bottle. That’s the first thing she wanted to do when I told her I was pregnant. When Braxton came home on the feeding tube, we had to have a different conversation. I explained to her that Braxton needed a special way to eat and we found other ways for her to help. At first, she helped me pour milk in to the feeding bag, later I taught her what to push on the pump so she learned to start it and knew how to stop it when it started beeping. Now, I do let her help with the syringe feeds, but ONLY under my supervision. I definitely don’t expect her to feed him all by herself. It has been quite the balancing act this whole time finding ways to keep her involved so she doesn’t feel left out since Braxton requires so much of our time. She’s been awesome though.
  • Was it hard to learn how to use the feeding tube? Surprisingly, no. It was just a lot of information. There is a steep learning curve when it comes to tube feeding, but it’s something that has to be done often, so the repetition really helps you learn what needs to be done. We have been able to teach our parents and even my grandparents!

I think that’s all the questions we received, I know we’ve put a lot of information out this week, so I thank you for reading! If you do have any other questions about feeding Braxton, we’re happy to answer. Just ask!

 

Tomorrow is the last day! Sometimes You Just Have to Laugh: Tubie humor

For all Feeding Tube Awareness Posts, click here!

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