Monthly Archives: February 2013

Hey you, yes YOU, you’re awesome!

Big sister showing love for her brother :)

Big sister showing love for her brother ūüôā

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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Braxton is 20 months!

It’s been pretty quiet around here appointment wise (thankfully), so quiet I didn’t even change my fridge calendar! Perhaps my own celebration of not having to keep up with appointment after appointment. ¬†The calendar may not have changed, but another month has certainly passed. ¬†I cannot believe that Braxton is now 2o months old. 20 months! Oh. My. Goodness! I already need to start planning his 2nd birthday! He’s mobile this year, so something like a bounce house is actually possible! We had a small party at home for him last year and since he can’t eat, we let him play with his cake. ¬†He totally destroyed it, and he had so much fun. ¬†I definitely think it’s something we will do again this year. ūüôā

Demolished the cake!

Demolished the cake!

At 20 months, Braxton is crawling everywhere…and I do mean everywhere! ¬†One minute he is in the living room, the next he is in the kitchen staring out the patio window. ¬†I block him from the patio and he’s now discovered there is another window in the front room, so he goes there instead. ¬†Smart kiddo!

Braxton also thinks he is a woodchuck. ¬†He chews on EVERYTHING!! Poor kiddo has teeth coming in veryyy slowly, so naturally he is looking for relief. ¬†He chews on anything he can get his mouth on (except for teething rings – he’ll chew anything but), so we go through lots of 409 and Lysol making sure everything is clean so if he happens to “taste” it, at least it’s not dirty or full of germs. ¬†I think this is definitely something to do with sensory seeking, but I’m not really sure how that fits in to everything or what it really means for him. ¬†I just know it’s a way for him to “know” and “discover” his surroundings.

Walking is not far away! I’m hopeful that Braxton will be walking by his 2nd birthday…that’s our goal. ¬†He is doing better about cruising around the table. ¬†He can easily get himself up to a standing position and back down. ¬†He’s even getting brave and letting go and holding on with one hand or barely at all. ¬†He will walk while holding our hands too. ¬†We finally bought him some shoes too! ūüôā

Exhausted after a long day of practicing walking...check out those sweet kicks! ;)

Exhausted after a long day of practicing walking…check out those sweet kicks! ūüėČ

Eating is still a work in progress. ¬†We’ve had very little success, but he is at least tolerating it now instead of completely refusing everything we offer him. ¬†With his G-Tube he is still gaining weight appropriately, so we will just continue to work with him on eating. ¬†He WILL get there eventually, I know he will!

There are also LOTS of new sounds! Braxton’s babbling has taken off. ¬†He had ‘ma’ ‘ba’ ‘da’ ‘na’ down and I’ve now heard some ‘ga’ ‘la’ ‘ya’ ‘ti’ ‘ah’ sounds. ¬†My day with him sounds something like, “babamamama dadada balababa ga ti ti ti yayayaya ahhhhh *loud shriek* bababbaba” We talk to him all day and repeat the sounds to him, make sure we name everything we do and show him. ¬†We’re even learning some sign language and trying to teach him so that hopefully he picks up one or the other just so he can communicate with us.

He’s also much more playful now! ¬†He is actively engaged, focused, and truly entertained. ¬†We can sit and roll a ball with him for about 20 minutes before he loses interest. ¬†He is practicing some excellent turn-taking skills (which are a pre-cursor to language) and so many other little things that are so important to his overall development. ¬†I’m really excited every day for all the new things he is learning. ¬† Here is Braxton playing catch with his Physical Therapist and Speech Therapist. ūüôā

 

Look forward to all of the awesome things he’ll be doing next month!! ūüôā ūüôā ūüôā

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One Lovely Blog Award

one-lovely-blog-awardWoot, woot!! Fellow mommy blogger,¬†Alana¬†nominated me for the “One Lovely Blog Award!” ¬†Alana’s son, Silas, is a fellow tubie and she has a great blog on her son’s journey as well as her personal one….yikes! I can barely keep up with one!! She also has a book about the first 5 years of their journey together…and she thinks *I’m* the SuperMom? Joseph keeps telling me I should write a book, and maybe one day I’ll get around to that, but for now you should check out Alana’s book and follow her blog! And a very big thank you to Alana for following our story and the nomination!

In order to accept this award, I must give you seven random facts about myself and then nominate seven other bloggers for the award. ¬†I have a terrible habit of getting all sappy and inspirational when I give random facts, so I’ll try my best to just give you ‘facts’! Here goes:

Here I am when I decide to remind myself that being a mom doesn't mean you have to be 'frumpy' :)

Here I am when I decide to remind myself that being a mom doesn’t mean you have to be ‘frumpy’ ūüôā

1. I am double jointed in my hands. ¬†It’s pretty creepy looking and I hate showing it. ¬†From time to time, I’ll just be going about my business trying to reach for something and my finger will just lock up on me so I look like I’m randomly throwing gang signs. ¬†Lovely, huh? And, an illustration…

Ugh, I'm like the crypt keeper!

Ugh, I’m like the crypt keeper!

2. I have never, ever been on an airplane! Shocking, I know, want to know something more shocking? See number 3…

3. I have never been out of the state of Texas!! Well…..that’s only partially true. ¬†In high school, my JROTC Drill Team attended Nationals in Colorado Springs at the Air Force Academy, we rode in a charter bus, so I got to pass through a few states and see a few things in Colorado besides the Air Force Academy, but other than that I’ve never been out of Texas. ¬†Crap…wait, one more thing. When I was younger my family visited Mexico a few times, but it was just across the border and I was so young I hardly remember any of it, so that doesn’t really count huh? [I’m wayyyyy overdue for a vacation!]

4. I have so many totally and completely irrational fears. ¬†I’m not talking about not waking up one day. ¬†You know Braxton loves to sit at the patio door and stare out of the window into the backyard. ¬†Sooo, we keep the shades up so he can actually look out the window. ¬†Well, at night as I’m in and out of the kitchen, I pass by that door and think “what if one day, there was someone sitting there just staring back at me?” *shudders* Sure, the chances of this happening are probably slim to none, but for some strange reason I think it – every. single. day! I immediately rush over and shut the blinds. This is just one of many. Maybe one day I’ll share the others.

It would be so creepy to see someone staring back at me.

It would be so creepy to see someone staring back at me.

5. I have an extremely diverse taste in music. ¬†I’m really a music lover. ¬†I listen to Country, R&B, Hip-Hop, Pop, Latin Pop, Tejano, Motown, Alternative, Soft Rock….you get the idea. ¬†Just depends on my mood. I love a good beat and good lyrics. ¬†Give me a song that tells a story and I’m hooked. ¬†And forgive me a moment as I morph in to my parents….I just don’t understand some of the ‘music’ today – what is this noise? I’d much rather listen to a 90’s genre station instead of most of what’s on the radio today. [I’m much too young to sound that old]

6. I’m a huge nerd. I love nerd humor, I love to read anything and everything. If I don’t know something, I immediately research everything I can about it so if it ever comes up again I can say I know what I’m talking about. ¬†I have a really strange way of remembering a whole lot of completely random tidbits of information and can spout them back at any given time. ¬†Yes, I enjoyed watching Jeopardy as a kid. No, I could not go and win the jackpot ūüė¶

Yes, yes, I did!

Yes, yes, I did!

7. I become way too emotionally invested in TV Shows. ¬†Sadly, I cried through many Teen Mom (the original cast) shows. And I was genuinely sad when the original cast ended their run. ¬†When I get in to a show, sometimes I feel like it happened in real life. ¬†One of my roommates passed on her unhealthy obsession with One Tree Hill to me, and I was so mad when the show ended. ¬†And I’d always get mad at Dan for ruining all the chances Nathan gave him! I’m currently obsessed with New Girl. I wish Jess was my best friend in real life, we’d totally get along. ¬†Schmidt is hilarious, and while he would definitely get on my nerves, I’d love to have him around for a good laugh!

*Whew* I made it through without getting all transcendental on you! I hope you enjoyed learning a little more about me. And now…it’s time for me to pass on the torch! I follow a lot of mommy bloggers, and though I may not say much I have these all bookmarked and read them often! I hope you take the time to visit some of these and show them some love too!

[In no particular order]

Made Meaningful – This blog is written by the Pastor of our Church and his wife about their daughter Kennady. ¬†When she was born, a doctor literally wrote in his notes on her that she “had no chance at a meaningful life.” Kennady is now 11 years old and her life definitely has meaning. ¬†Take that, doctor!

Bloom Where You’re Planted – Fellow Texas mommy shares her story as a special needs momma in such a beautiful way and reminds us that we may not be where we wanted to be, but we have a chance to be beautiful and matter right where we were placed.

Confessions of a Sleep Deprived Momma – Shelley is an amazing mother with such a kind soul. Her willingness to pay it forward through her experience inspires me to do the same.

God’s Mercy Displayed – Another admin of the Texas Mommies of Miracles group on facebook. She shares her story about her wonderful family and how God is ever present in their lives.

Uncommon Sense – Dana Neider shares her story with plenty of humor and sarcasm. ¬†I absolutely love reading every one of her posts! She has a real gift for putting in to words exactly what so many mothers feel, but can’t find the words to fully express.

Time Spent Waiting РA friend of mine also on a journey to finding a diagnosis and fellow tubie momma.  I encourage you to visit her blog and follow her along their diagnostic journey.

Heart of Hope РA touching blog about a beautiful little girl living with a congenital heart defect.  She recently had surgery with some complications, but she seems to be recovering well now! Her momma has been so diligent in keeping up with updates despite their challenges.  You can never have too many prayers, so I ask you to keep Hope and her family in your prayers as Hope continues to get stronger and hopefully returns home soon.

I hope you all know how much I admire you and your stories!

The rules: If you choose to participate in the One Lovely Blog award, please leave a link to your reply in my comments section.  What the heck do you do now? Thank your nominator by mentioning her in your post and including a link. Copy the One Lovely Blogger picture. Give seven random facts about yourself.  Nominate seven other bloggers.  Let the bloggers KNOW you nominated them.  Come back and include a link to your post in my comments!

Good luck with all of your precious children, and I look forward to getting to know you better!

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February is Heart Health Month

Congenital Heart Defect Awareness

Congenital Heart Defect Awareness

Well, it seems that Braxton is just a ball of awareness! Apparently I missed an awareness week…oops, I’ll get them all eventually! As they are all very important in bringing awareness to the prevalence of issues many of us are not aware of until we or someone we know is diagnosed with them. ¬†February is Heart Month and Feb 7 – 14th was Congenital Heart Defect Awareness Week. [Click the links to learn more.]

One of the many things Braxton was born with is a congenital heart defect. ¬†Congenital means that it was present at birth, it’s not something that developed over time. ¬†Braxton has a Bicuspid Aortic Valve and Dilated Aortic Root. The aortic valve allows oxygen-rich blood to flow from the heart to the aorta and prevents the blood from flowing back from the aorta and into the heart. ¬†A normal heart has three valves that help with this process, Braxton’s heart only has two valves. ¬†Here is an illustration from PubMed Health:

Bicuspid Aortic Valve

The dilated aortic root means that Braxton’s Aortic Root is slightly enlarged. ¬†Future complications could include congestive heart failure, leakage of blood flow back into the heart, and narrowing of the valve which does not allow proper flow. Unfortunately, there is no way to prevent a congenital heart defect. ¬†It is usually something that runs in the family. ¬†And there is really no way to for sure know if your child will have an issue if it does run in the family. ¬†From what I know, neither of our families has a bicuspid aortic valve, but my side of the family does have a history of other heart defects. ¬†Based on the information from PubMed Health, often a bicuspid aortic valve can go undiagnosed because symptoms aren’t very severe, so it’s possible other family members may have been affected and we just don’t know.

On my side of the family, I was born with a slight heart murmur, but over time my heart grew and the murmur resolved. ¬†My sisters, however, required surgery to repair their heart defect. ¬†I have sisters who are twins, and they both had an Atrial Septal Defect (ASD) which is a hole in the wall that separates the the left and right chamber of the heart. ¬†The hole allowed “good” and “bad” blood to mix which affected their growth and could potentially cause more severe issues. ¬†At 6 years old, my sisters underwent back-to-back open heart surgery. ¬†The surgery went well and they both made a full recovery. ¬†They are now 24 years old and one has graduated from college and the other will do so this spring!

We were fortunate enough to have discovered Braxton’s heart defect at birth. ¬†There were no signs before he was born. ¬†We underwent all the normal ultrasounds and screenings. ¬†Each time the doctor listened for the heart beat I asked him to make certain he didn’t hear a heart murmur because I knew I had one when I was born. We never heard anything wrong. ¬†With the other issues he had at birth, an echocardiogram was done to check all the bases and the bicuspid aortic valve was found. ¬†As a result, Braxton is followed closely by a cardiologist to monitor the development of his heart and make sure there will be no complications. ¬†The report is that for having the defect, Braxton’s heart functions “normally” and his aortic root is still enlarged, and as time passes it continues to grow, but it is growing with Braxton proportionately so there is not yet cause for concern. ¬†We aren’t sure if there ever will be, or what the long term implications are. ¬†Our cardiologist has been pretty optimistic thus far, and when I asked about complications he told me that I shouldn’t worry about them, that I should focus on the fact that Braxton is doing just fine. ¬†I can appreciate a doctor not freaking me out unnecessarily, so thanks, doc. ¬†Braxton has an Echocardiogram (ECG) every 6 months so the cardiologist can make sure that everything is continuing to work as it should. His little heart is full of so much love and joy, so I will enjoy this worry-free time.

Congenital Heart Defects are extremely common and there are a wide range of conditions that can affect children.  I encourage you to visit the Congenital Heart Information Network to learn more about screening, resources, and support available for anyone with a congenital heart defect.

CHD doesn't have to be as grim as it sounds.  There is absolutely a possibility for a full and happy life!

CHD doesn’t have to be as grim as it sounds. There is absolutely a possibility for a full and happy life!

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