Monthly Archives: September 2013

Sometimes Boring is a Good Thing

The past couple of months have been pretty quiet for us.  I’ve gotten so used to the marathon of doctor appointments, therapies, and frustrating news that I really am not sure how to handle any sense of “normal” and otherwise “boring” that we have had as of late.  It’s just been a little strange not sitting in waiting room after waiting room as we have for most of Braxton’s short life so far.

At the last Dr Visit earlier this month.

At the last Dr Visit earlier this month.

In his first year, we were at the pediatrician’s office just about every other week and had appointments with specialists at least 4-5 times per month.  It seemed like I was dealing with devastating and equally frustrating news and test results on a never-ending basis. Each time we accepted the news previously received, something new came up to rock our world.  The first year and a half was genuinely rough on us physically, emotionally, and spiritually.  At about 18 months, something clicked for Braxton and he has been knocking down milestones left and right.

Each month that passes further from the day we received our diagnosis has seemingly gotten easier and easier.  I don’t know why I’ve been so reluctant to accept that things are finally okay.  I guess it’s because I know that at any given moment it could all turn right back upside down.  Sometimes, it’s hard to take a step back and look at the big picture when you’ve spent so long living in moments, careful not to plan too far ahead for fear of never seeing those plans come to fruition.

Every day Braxton wakes up is a blessing.  Every day that any of us wakes up is a blessing.  We wake up and Braxton is standing in his crib, sometimes jumping, sometimes babbling, but always, the moment he makes eye contact with one of us, his face lights up and he has the biggest smile on his little face.  That smile can melt away the greatest struggle.  And no matter how tired I am, that smile makes all of it worthwhile.

Braxton has been doing incredible at his new daycare.  He is making progress every day and I truly believe that he is going to walk in no time.  He is standing so much more at home and in school, his teachers say that he spends more time up off the ground than he does sitting or crawling.  For now, crawling is faster, so he might crawl over to where he wants to be, but the moment he gets there he is right back on his feet, cruising back and forth.  His physical therapist has reported that he will stand Braxton with his back to a shelf so he knows he is still supported, and Braxton has tried to take a step forward on several occasions.  He can stand for very short periods of time without support, but as expected, as soon as he realizes no one is holding him he frantically reaches out for support and tries to get down.  This is absolutely developmentally appropriate and so exciting to see!

What a mess

Braxton’s Handy Work

Brax is even showing signs of completely typical toddlerhood.  His favorite thing to do at home is open and shut the cabinets, and then he will open it and take everything out.  I am constantly finding random tupperware strewn across the kitchen.  Just yesterday, he was carrying a frying pan around the kitchen.  Poor kid has no toys but tupperware and frying pans! 😉 Sure would have saved us some money had we known that’s all he needed to keep him entertained! And just last week in daycare, I watched Braxton crawl right over to another child who was laying down and playing with a toy on his tummy.  Brax crawled with intent, grabbed at the toy and tried to tug it away from the other little boy.  The boy stood his ground and tugged back.  Braxton whined for a second and then decided if the boy wouldn’t give up the toy he’d just play with it anyway right on the kid’s tummy, too! The only thing missing was either boy shouting “Mine!” at each other.  I picked Braxton up and redirected him to another toy instead of using his poor friend as a play table. It’s really nice to have some typical experiences thrown in to these completely atypical life that we have.

Medically, things have been stable and pretty “boring.” But in this case, that is a very good thing! I’m so thankful not having to spend time in the hospital or in doctor’s offices for a change.  I finally have time to sit back and just enjoy my kid being a kid.  I play with him and watch him learn new things as I let him explore on his own.  I’ve always loved watching kids figure things out on their own.  You can see the wheels turning in their mind and the sheer pride in their face when they finally figure it out.  I can finally see that in Braxton and am learning to appreciate NOT being on the go all the time.  Trust me, I have plenty to keep me busy, but it’s so much better than worrying about yet another doctor’s visit or the agony of waiting for test results.  Braxton has been doing a really good job of keeping me on my toes as well.  Can’t leave the kid alone for 5 minutes and expect everything to be in it’s place when you return.  I can honestly say that I absolutely love it!

Boring means I get to enjoy moments like this. Braxton laughing at bath time. My heart is full.

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Bath time is hilarious! 😀

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Fads Are For Fashion, Not Healthcare

While I’m not a doctor, it doesn’t take one to start noticing trends in medical diagnoses, especially when you are as immersed in the healthcare world as I have been, now that I have a child who has special needs.

Every so often it seems like more and more people are being diagnosed with something and prevalence statistics are skyrocketing.   Then you have things like the K-E diet, where people began using Nasogastric feeding tubes to supplement nutrition while depriving one’s self of caloric intake as a way to lose weight.  As a parent of a child who REQUIRES a feeding tube to LIVE, I can assure you that feeding tubes should not be used as part of a fad diet.  Fads have no place in healthcare. Whether that fad is in the form of a new diet or a medical diagnosis, it is unfair to those who truly suffer from a disease and it is unfair to people who are misdiagnosed simply because it’s the diagnosis of the moment, when in reality there is so much more to their story.

Even before Braxton came along, I had worked in a pediatrician’s office, so I was very familiar with a variety of diagnoses and even helped to send out and collect the necessary paperwork for Attention Deficit and Hyperactivity Disorder, more commonly known as ADHD, evaluations.  As a child, my brother was diagnosed with ADHD and ODD (Oppositional Defiant Disorder) so I was aware of its existence and how it presented in children and adolescents.  As I got older, it seemed like everybody was diagnosed with some sort of ADHD or ADD (ADHD without the hyperactivity part).  This PubMed article states that between 2000 and 2010, ADHD diagnoses increased approximately 66%! It honestly seemed as though anyone who took their child to the doctor for any sort of behavior or attentiveness issues came out with an ADHD diagnoses and was subsequently medicated.  There was seemingly no second thought to any other causes or underlying issues.  Perhaps a different learning disability, or a simple case of kids being kids.  I’ve always questioned whether or not ADHD should be diagnosed in children as young as 3.  At 3 years old, children are naturally curious, rambunctious, wild, inattentive, fidgety and mischievous.  Regardless, doctors were quick to give that label and add another notch to their belt. Below is a table of currently approved medications to treat ADHD as well as the age in which these are approved for. I’m appalled by the thought of giving my 3 year old Adderall!

Approved ADHD Medications

I do have to say that I think ADHD is absolutely a valid medical diagnosis and there ARE children who have significant issues that need to be addressed, but my problem is that ADHD is so easily thrown out that it is over- and often mis-diagnosed in many children.  It seemed to be a for a long time the “hot diagnosis” of the time.  Now, you may be thinking, “My child did have ADHD and we medicated and I saw great results, etc.” but consider this for a moment.  There are PLENTY of people who do NOT have a formal ADHD diagnosis who have seen the SAME benefits as those with a diagnosis.  I have seen and heard countless stories of teens and college students taking Adderall because it helped them focus better on their schoolwork.  Does that mean they all have ADHD that went undiagnosed or is it more a matter of the natural side effects of that medication on the brain that enable them to focus so much better? Honestly, I’m not sure, but it is definitely something to think about.  While ADHD is still a common diagnosis, it is less heard about than in years prior.

Now, that “hot diagnosis” seems to be Autism.

Wait just one minute before you get the pitchforks out.  Again, I recognize that Autism is VERY real and there are indeed many legitimate causes for concern.  Here are my concerns: an increased number of children who have underlying genetic diseases are inappropriately being diagnosed as also having autism.  There are also an increased number of children who are receiving an autism diagnosis when, in fact, there is something MORE to the story.  So you see, I’m not at all trying to diminish or belittle any parent struggling through an Autism diagnosis.  I know it’s hard. I get it. I really do. I want the healthcare professionals to understand that there is more than Autism out there.  They NEED to take a deeper look instead of just going with the latest fad.  They owe it to you. They owe it to your child.  Have you ever thought there might be something more to your child’s story? More importantly, do you think your doctor’s even considered it or did just throw a label out to get you services?  Services are fantastic, but only when they are the right kind.  A proper diagnosis is important when determining what services and what types of therapies can improve a child’s quality of life.  

I read this article today, about Autism misdiagnosis among children with underlying genetic causes, more specifically 22q11.2 deletion syndrome.  The main premise of the article states:

“The social impairments common to those with 22q11.2 deletion syndrome, or 22q, can resemble symptoms of autism, leading many children with the condition to be classified on the spectrum. However, findings from a study published Wednesday in the Journal of Autism and Developmental Disorders suggest the two conditions may be unrelated.”

This led me to do some further research, as this is something I have thought for quite some time.  At about 18 months old, I took Braxton in for a routine appointment with his developmental pediatrician.  As per the industry standard, I was given the M-CHAT (Modified Checklist for Autism in Toddlers) to fill out regarding Braxton.  The M-CHAT is a tool used to screen children for early signs of Autism that would lead to further diagnostic testing and intervention.  This is a great tool for that purpose, however it is lacking in many ways, which I did not discover until this particular visit.

Here are some sample questions from the M-CHAT that require a yes/no answer:

1. Does your child enjoy being swung, bounced on your knee, etc.?
2. Does your child take an interest in other children?
3. Does your child like climbing on things, such as up stairs?
4. Does your child enjoy playing peek-a-boo/hide-and-seek?
5. Does your child ever pretend, for example, to talk on the phone or take care of dolls, or pretend other things?
6. Does your child ever use his/her index finger to point, to ask for
7. Does your child look at you for a second or two?
8. Does your child respond to his/her name when called?

I answered all of these questions honestly, and for most of them, the answer was a resounding ‘NO.’  Braxton had all of the ‘clinical’ red flag indicators of Autism.  Instead of taking Braxton’s history and the ‘big picture’ into consideration, the doctor simply said that we needed to see a doctor more specialized in developmental assessments who could make an Autism diagnosis.  Flustered, I called our Physical Therapy supervisor who I knew had a better understanding of what Autism is and what it isn’t, and I spoke to our Speech Therapist for the same reason.  Both of them assured me that they did not see in him what would be considered classic signs of Autism.  Due to Braxton’s vision and hearing impairments, both of them stated those were more the root of the cause for Braxton rather than Autism.  We did not know the extent of damage to his vision due to the coloboma in each eye, but we knew it could possibly effect what and how much he sees.  Therefore, he would be lacking in the eye contact and interaction aspect of the M-CHAT questions.  At this point, we also had just gotten Braxton’s hearing aids and had just found out about his hearing loss.  So basically, for the first year and a half or so Braxton was unable to really hear, and therefore unable to respond to his name, imitate sounds, babble, etc.  He had two very important senses affected as part of his genetic syndrome that caused him to raise every Autism red flag indicator, but it did NOT mean he had Autism.  At his 2 year check up, once we had an official diagnosis, I relayed this information to the Dr (different than the one we saw at 18 months) and told her we did not follow through with the referral one, because it was a complete mess, but that’s another story, but also because in consulting with our pediatrician and therapists we decided he was not in need of further evaluation because his symptoms were due to his early sensory deprivation and not Autism. I also felt that he was being followed by more than enough specialists who were capable of making further diagnosis if necessary.  The doctor agreed and mentioned that in her short evaluation, she could see the red flags, but recognized the early delays and also saw in him things that would not be consistent with an Autism diagnosis.

This is just how the issue of misdiagnosis relates to our story.  I sought out other resources and to my surprise found that we were not the only family who had an underlying genetic condition and was also given a Autism diagnosis.  The Journal of Intellectual Disability Research published a study in 2009 as it relates to this very topic.  They studied the prevalence of Autism diagnosis in conjunction with several disorders that have a known genetic cause including Fragile X, Down Syndrome, Angelman, Cystic Fibrosis, and Rett Syndrome just to name a few.

One startling statistic pointed out “ASD is also the most common initial misdiagnosis in children with RS [Rett Syndrome], with 18% of individuals being diagnosed with ASD before receiving a diagnosis of RS (Young et al. 2008).”

This is incredibly alarming.  How many people receive an Autism diagnosis and just stop right there?  What if that 18% didn’t keep pursuing further diagnostic testing? What if more than that 18% is affected? This illustrates the importance of medical professionals looking in to the big picture and not just going with what is hot at the moment.  The sad reality is that for many of that 18%, it wasn’t until things got much WORSE that anybody gave them a second thought.  We shouldn’t have to wait for disaster for someone to do a little extra work to begin with.

There are several other similar claims such as this one in that study which support the idea that further consideration is necessary when an Autism diagnosis is made when there is also an underlying genetic condition.  The study’s conclusion states:

“There is a need for caution in interpreting the significance of superficial similarities between ASD and the behavioural phenotypes of certain genetically determined syndromes. However, recognition of ASD-like characteristics (even where a true diagnosis of ASD may not be relevant) in individuals with genetic syndromes is crucial in ensuring that individuals receive appropriate behavioural management and educational placement.”

This also supports the idea that a misdiagnosis can be beneficial if used appropriately to acquire services and education placement necessary for a child to be successful.  But, I caution that a misdiagnosis should never ever be the goal JUST to obtain services.  Find a doctor who will fight for your child just as you are fighting and will get you what you need the right way.

There has also been an increase in new information stating that some Autism Spectrum disorders have more links to Mitochondrial disease  and also warrant further testing. Mitoaction also has information on having a child who has an Autism diagnosis tested further for Mito.

Whenever I learn that a new parent has a child with multiple systems affected but is being given an Autism diagnosis, I can’t help but cringe.  It may in fact be true Autism, but the reality is that it could be more, so much more.  I can’t help but think about all the children who are not being diagnosed properly and who are not getting the treatment they need.  I’m not saying to not believe your doctors, but I am encouraging everyone to do more research and pursue further testing when your parental instinct tells you that the answer is not that simple.  Don’t let your child become part of some doctor’s repertoire for ‘diagnosing autism early,’ or think that just because he failed the M-CHAT he MUST have ASD, your child is so much more than a diagnosis and deserves to have someone speak up for them.  That someone is YOU. As the parent, you are the advocate. If something doesn’t make sense, ask more questions.  The doctor may hold a degree, but there is much more in the real world than they ever read about in a book, not to mention you spend day in and day out with your child and know them better than any book could ever teach a doctor.

Don’t be afraid to stand up.  Don’t be afraid to go against the trend.  Always, always remember that fads are for fashion and not healthcare.  Your child is not a fad, don’t let them be treated as one.

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Forget What You Thought You Knew

Parenting: “You think you know, but you have NO idea!”

Forgive me for using a lame MTV catch phrase, but it is completely applicable here.  For those who have kids, remember BEFORE you had kids, when you were convinced that every other parent was doing it wrong and that your children would be angels because you were just THAT good and actually raised right?! If you don’t have kids and you think that…well, you will learn someday.

We ALL had it figured out once upon a time, and then we actually had kids and every parenting philosophy you thought was surefire just flew out the window.  If parenting has taught me anything, it’s that I knew nothing until my kids came along.  And let me tell you, it’s different with every. single. kid! After Aileen was born, I thought I had everything down pat.  She was a pretty “easy” baby and didn’t really give me a whole lot of problems…until she started school. Oy vey! I’m not so sure I even know what I’m doing anymore! Then, when I learned I was pregnant with Braxton, I was fully armed with all my tricks that had worked for Aileen, I knew what to do and what not to do since it didn’t work with Aileen….and then bam! I have a child with special needs.  What. the. heck am I supposed to do now!? I’ve absolutely been a parent before, but let me tell you, I’ve had to re-learn so many things that I actually feel like a first time parent most days.

I know how to feed a baby.  I had to learn how to use a feeding tube to feed my child.  I was determined not to let my 2nd child sleep in bed with me or even in the same room.  His crib was all set up in the other room.  Then we brought him home from the hospital and he HAD to be in the bassinet right next to me so I could make sure he was still breathing and change his feed every few hours.  I knew all these wonderful fun games to play with my child and couldn’t wait to get started.  He did absolutely nothing the first few months of his life, didn’t make much eye contact, no smiles, no laughs, and he rarely cried.  Yes, we still played and sang to him, but the interaction was missing.  I wasn’t prepared for that.  Every step of the way has been something new I’ve had to learn a different way of doing than I had originally planned/expected/assumed.  Obviously, all of the major tenets of care had to be re-examined and I had to learn the proper way to care for Braxton.  One thing I didn’t expect to have to learn was how to communicate with my child.

Good morning smiles

Good morning smiles

Just because a child doesn’t say words, doesn’t mean he doesn’t know how to communicate! It’s not that I thought he had no communication skills, I just didn’t know what to look for or how to understand the ways he was communicating.  I’m a Communications Major, but in his two years, I have learned so much more about communication than I ever did in school.  I took several courses in non-verbal communication and body language; and I’ve used some of that knowledge with Braxton, but he could write his own book.  As an infant (this goes for ANY infant), he communicated with his cries.  Infants cry when they are upset, need to be changed, need to be fed, are in pain or just want to be held.  Yes, there are different cries for each and as a parent, you learn to listen for each one.  This is a very early form of communication and essential in teaching skills that are needed later in life. NO, not to cry when you want something, but the importance of using your voice to indicate a need/want.  In toddlerhood, those cries are transformed in to pointing, grunting, and even words.  I can recall several instances where Aileen tried to just cry to get her way and I had to re-direct her and tell her to “use your words.” Braxton is in his toddler stages, but obviously, he has no words yet.  But he definitely has some communication skills.

Braxton still uses his cry as his primary form of communication.  He uses it more and more now to tell us when he is upset or doesn’t like something.  For example, if he is playing with a toy and we take it away, he will sit back and start to cry, well whine actually, but where most people would see a spoiled child, I see him telling me that he wasn’t done playing with that toy. After all, it’s his ONLY way to truly get his point across at this time.  His cry let’s me know that I did something that he didn’t like.   Sometimes, we can re-direct him and get his attention on another toy and he’s happy again.  The important thing is that he has an opinion and he’s learned to use his voice despite not having the words.  His cry is different than when he is truly upset or in pain.  We’ve had to learn how to tell the difference to address his needs.  And like any toddler, he’s used his cry to trick us in to letting him stay up a little longer or he especially gets his grandmas because they can’t stand to see him cry.  He absolutely knows this, so he will cry and undoubtedly he will get picked up and he starts laughing or has a goofy grin as if to say “haha I got her!” When he is happy, he smiles or laughs, of course.

Braxton isn’t really pointing, but he will crawl up to me and pat me to get my attention.  It’s usually when I’m cooking and he will come up behind me, pat my legs, and when I turn around he looks up at me with a big smile and lifts his arms up to me.  As I scoop him up he laughs and will nuzzle his head in to my neck or put his lips on my cheek.  It is the sweetest moment ever!  In that one moment, he speaks so much louder than his words ever could.  I feel so much love and happiness.  When I arrive at daycare to pick him up and he spots me from across the room, he crawls as fast as his little legs will go and comes right up to me and does the same.  So he knows how to get your attention and make you feel loved.

He is even waving goodbye! When I pick him up from daycare he lifts his little hand and gives a quick wave to his friends. It’s so interesting because he will not do it on command and he will usually do it just the one time.  But, it’s always at the appropriate time.  I’ve noticed it as we leave other places as well, so it’s clear that he understand what he’s doing, but just doesn’t have the ‘command’ down yet.

We have been very active in learning sign language, and I definitely know more than I think I do. It’s still a little difficult to practice, because we don’t need to use it regularly just yet.  Braxton has yet to pick up any signs, but we try to sign with him to give him at least the exposure.  We are making more of an effort to commit many of the signs to memory and have done pretty well.  Aileen has surely been the best.  She loves to learn new signs and is often asking for the sign to different objects.  It’s awesome to see her take to it and see the pride she has when she uses a sign correctly.  I’m certain Braxton will learn soon too, but until then, we are working very hard to learn and understand the ways in which he is communicating with us NOW.

There are days where I just have no idea what’s going on.  It’s frustrating for us and for him. He will just cry about everything and we offer his favorite toy, change him, feed him, try to cuddle, try to put him to sleep, and just nothing works.  Braxton is usually very happy, but just like any other kid, he has days where he is just a grump.   Just imagine not being able to express yourself or get your need addressed.  I had laryngitis pretty bad a while back and absolutely could not speak for about 3 days.  I was miserable.  Miserable after only THREE days! Couldn’t imagine being without words every day of my life! It’s a tough road ahead, but I know we will get through it.  Braxton has taught us so much and continues to do so each and every day.  He definitely reminds me to keep an open mind when it comes to new milestones and new methods of teaching him.  Just because “I’ve done this before,” or read a book once, does NOT at ALL mean I know what I’m doing.  We learn something new every day.  I notice new ways that Braxton communicates with us all the time.

If you are a new parent, new to parenting a child with special needs, or just having a day where you don’t understand your child, take a deep breath and relax! Allow them to teach you! If you just sit back and watch, you will see their communication skills come out in ways you never imagined.  They will show you exactly what they need if you give them a little time.  If it’s just a grumpy day, it’s ok to leave the room for a few moments, you can both use the space to clear your head.  Just forget what you thought you knew before you had kids, all that matters is what they are going to teach you every day for the rest of your life.

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Honoring 9/11

Remember 9/11Like many of us, I remember exactly where I was, what I saw, who I was with, and exactly how I felt 12 years ago today.  I was old enough to know what was going on, but just young enough to fail to truly grasp the magnitude of what had happened that day.  I was pretty smart and mature for a sophomore in high school (if I may say so myself), but I can honestly say I did not and could not comprehend the events that occurred.  I remember the looks of fear, terror, and sadness in the adults around me that day.  I was in Junior ROTC shortly after hearing the news, and the looks on the faces of our retired Air Force instructors are forever engraved in my mind.  My school was close to an Air Force base, so I remember thinking my area was a sure target should this go any further.  I was fearful that day and the days after.

As the years have passed, I remember all of this and I am again saddened.  As an adult, as a parent, I am saddened by what I can remember, saddened knowing that families were broken and dreams were shattered that day.  9/11 was a wake up call to all of us that everything in this world can change in an instant.  What would you do if your spouse didn’t come home today? What would you tell your children? How would your children continue growing without their parents? 9/11 made us remember not to take life for granted, yet many of us still do.

Smile despite the hurt.

Smile despite the hurt.

Every day is not promised, and many of us fail to recognize this.  In those days where I wasn’t sure if Braxton would survive, I was again reminded that we should not take life for granted.  Every day Braxton reminds me to be thankful for the days we are given because you never know when they will be taken away.  He is proof, that life can be full of joy despite the obstacles we face.

So today, do not be be somber. Choose not to live a life of fear. Instead, be happy, be thankful, be fearless. Fearless is not the absence of fear, but rather the ability to look fear in the eye and choose not to succumb.  Be strong, be brave, be courageous.  Use your words and your actions to fight evil.  In the battle of good vs evil, good must prevail. So DO SOMETHING good today!  

Today, we remember the fallen and honor their legacy. We thank the first responders, and the men & women (past, present, and future) who fight for our freedom. Today, we choose to be joyful and thankful for this precious life that we have been given.  Today, and every day, we will DO good so that evil cannot prevail.

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Meet Our Dynamic Duo: Super Braxton and Super Aileen

Now that this has officially been shared by Tinysuperheroes I can change it to public for you all. Sorry if you were wondering what the heck was going on! Anywho, thank you so much to Tinysuperheroes for sharing our story and officially welcoming us to their Super Squad!

Aileen waiting to meet Braxton

Aileen waiting to meet Braxton

From the moment I learned I was pregnant, Aileen was set on being the best big sister. She talked about how she couldn’t wait to help me feed Braxton and play with him and teach him everything she knew. You’d often find her hugging my belly or talking to her brother, just dying to meet him. Throughout my pregnancy, everything went very well and there was no indication that we would have a difficult road ahead.

The day Braxton was born was a whirlwind of emotions. He was born June 24, 2011 at 7:58 am weighing 8 pounds 8 ounces and measuring 21 inches long! We were all so excited and our family was anxious to meet him. Sadly, they never did. Braxton was brought to me in the recovery room where I tried to breastfeed him. He would not latch well, and when he did he coughed and gasped and just didn’t seem like he was feeding well. The nurses whisked him away to the nursery and we didn’t see very much of him for the rest of the day. As family looked in on him through the nursery glass, we were so unprepared for the news that followed.

Several hours after Braxton was born, a neonatologist came in and explained to us that Braxton had several concerning abnormalities that pointed to some kind of syndrome since they all presented at the same time. Due to not feeding, Braxton’s blood sugar was measuring very low, the doctor heard a severe heart murmur, his ring and pinky finger of both hands were fused together, his two middle toes on both feet were crossed, and some of his facial features were of concern as well. She went on to say that Braxton was going to be transported to another hospital with a better equipped Neonatal Intensive Care Unit (NICU). We were devastated.

At 9pm that night, Braxton was wheeled in to my room in an incubator and all I could do was hold his hand through the plastic as he was taken away. Joseph (Braxton’s dad) followed the ambulance through town to the other hospital to get Braxton checked in. He learned that Braxton would undergo several tests overnight and through the early morning in hopes of finding some answers. The doctors assumed the worst and with every syndrome they threw at us, it was clear they didn’t expect our son to survive more than a few weeks. In NICU, we learned that Braxton had a congenital heart defect (bicuspid aortic valve and enlarged aortic root), hypoplasia of the corpus callosum (thinning in the section of the brain that communicates between the two hemispheres), and he failed several swallow tests due to aspiration and poor oral tone. We also ran several genetic tests that all came back with “normal” results. Despite a “normal” test result, the doctors were still certain that something was to blame for all of the anomalies Braxton was born with. At 2 weeks old, Braxton had a G-Tube placed because his feeding was so poor and the doctors were unsure how long it might take for him to eat on his own. At just over 3 weeks, Braxton was finally able to come home.

Now that he had a feeding tube, Aileen’s dream of feeding her little brother with a bottle was put on pause. Instead, I found ways to involve her by letting her pour milk in to the feeding bag and teaching her what buttons to push on his feeding pump. She was ready and willing to learn and with all of her questions, we all learned together. Slowly, we

Aileen Feeding Braxton for the first time

Aileen Feeding Braxton for the first time

worked with a speech therapist and after a swallow study revealed that Braxton was no longer aspirating we were given the green light to bottle feed. Braxton made slow progress as his oral tone was still very low, but slow and steady we got him up to taking 4-6 ounces by mouth and even eating some purees! Aileen also finally got to feed her little brother.

At 10 months old, Braxton went in to the hospital to have ear tubes placed because he was having constant ear infections. At this time they also did a sedated hearing test because Braxton did not seem to respond to an in office test, despite having passed a newborn hearing screen. We had also learned that Braxton’s tear ducts were abnormal and his eyes were constantly goopy as a result. So, our ophthalmologist also came in at this time to do a probing and irrigation of his tear ducts. Braxton came out of the procedures like a champ.

At 14 months old, we still had no diagnostic answers as to what was causing all of Braxton’s features and developmental delays, and Braxton landed back in the hospital with pneumonia and a bad case of croup. This time he was in for about 5 days before he was released to go home. From this point on, we regressed badly with his oral feeding of both the bottle and purees. He began vomiting almost every feed and every time we felt we had a handle on it, the vomiting started again. We changed formulas several times to no avail.

At 16 months old, Braxton was back in the hospital for surgery. This time it was to release the webbing of his fingers and another hearing test was also done at this time because the first was inconclusive due to the severe drainage he had from having the ear tubes placed. Braxton came through the surgery very well and had no issues with anesthesia. His hearing test revealed mild to moderate bilateral hearing loss, so we had to begin the process of having him fitted for hearing aids. His hands recovered very nicely from surgery. After a couple weeks of having them bandaged, he was cleared to use his hands fully again, and we’ve seen amazing improvement since the webbing was released. We just had a one year post-op follow up and the doctors was very pleased at how the site healed and is confident the procedure doesn’t need to be repeated any time soon.

Aileen and Braxton

Aileen and Braxton

Naturally, with all of the hospital visits and doctor or therapy appointments, Aileen began to feel left out. We tried so hard to keep her involved and find ways to let her know that she was in fact very special and being a great big sister. She had her moments of bitterness, but she also had awesome moments of being the cheerleader Braxton needed. Now that Braxton is more mobile, she loves to play with him and let him push her over since he thinks it hilarious. Both of their smiles and laughter makes my heart full.

Finally, at 21 months old after countless appointments with specialists and therapists, we received results from Whole Exome Sequencing genetic testing. The results came back with several variances in Braxton’s genetic makeup, but the one that stood out was a gene which pointed to Rubinstein-Taybi Syndrome. We finally had an answer and some direction. As with any syndrome, there is a wide spectrum as to what this means for any child, but we learned that many of the major medical issues we could expect we already had a doctor monitoring that aspect of the syndrome. Children with RTS usually attain all of the expected motor milestones (sitting, rolling, crawling, walking, etc), but it’s just a bit later than the typically developing child. The greatest obstacle for many of these children is speech. Many are nonverbal, but they do learn to sign very well or use a communication device. There are also quite a few children who talk quite well. We know that Braxton will always have a cognitive delay as well as many other developmental delays, but he is making great progress.

At 2 years old, Braxton crawling around lightning fast and learning to pull up on furniture to cruise around the house. Walking is not far away! He is still not eating very well by mouth, but we continue to work diligently with our speech therapist on feeding and speaking. Braxton is babbling some but does not yet have any words. Somewhere around 18 months, something just turned on and we can see the wheels turning in Braxton’s mind and he is ready to take on the world. Through everything, he’s shown us nothing but joy and love. There is definitely some superhero power in that smile of his because his smile lights up the lives of everyone he meets and can change everything for the better. Even in what seemed like dark, hopeless moments, Braxton was able to smile or laugh and has inspired so much hope for us.

And although there were some very difficult moments of sibling jealousy, Aileen has been an amazing big sister to Braxton. She loves to help us feed him and talk about him to others. She is constantly talking and singing to him and she is making wonderful progress in learning sign language. Her love for him is incredible. She is his biggest supporter and encourager. We are so blessed to have these 2 incredible children in our lives and we are honored to now be a part of the Tinysupero Squad!

Big sister excited to receive her cape

Big sister excited to receive her cape

Aileen was definitely more excited about her cape than Braxton, but they both love them. She has been zooming around the house helping Super Braxton and insisted on wearing it out to eat the day she got it just so she could tell everyone about Tinysuperheroes. I’ve got quite the advocate/marketing guru on my hands, so tales of the all the wonderful things your organization is doing are sure to spread through all of Texas. She’ll also continue to encourage Braxton with her new found super sidekick powers and reminding him that he is braver than he thinks, stronger than he thinks, and smarter than he thinks. The world better watch out for these two!

A big sister pep talk with words to live by

A big sister pep talk with words to live by

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