World Rare Disease Day 2010

You ARE wearing your Jeans, right?





I support World Rare Disease Day!

 

Twitter followers, you'll make Mommy happy today if you ReTweet to show you #CareAboutRare

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CPR Saves Lives

Have you ever had that dream where your child is dying and no matter how much you yell for help no seems to understand you, and you are screaming and crying, and then you wake up and everything is fine; your child is not dying, but sleeping rather peacefully. I hate envy you.

I have this feeling and I can't shake it. I feel like something really bad is about to happen. Ever had that feeling? No? Again I hate envy you!

So today I figured maybe if I just put it all down right here it will be gone from my head. Please someone take it!! The following is true.

A few days ago I had a nightmare that Austin was dying right in my arms. I think we were at the park or at a party because there were lots of other children. One minute he was playing and the next his tracheostomy came out. The hole was closing and his face was turning blue. His arms were flailing around and he was reaching for his neck. He was looking me straight in the eyes begging me silently to help him. But I couldn't find his Trach and the diaper bag/emergency bag was 10 feet away. And I was screaming for someone to bring me the bag. And no one could understand me. They were waving to me and laughing. And I had to scramble and drag him towards the bag to get the emergency trach. But it wasn't there because it was the wrong bag. And by now I am hysterical and no one notices, they just keep walking right past me. Then suddenly a nurse is there, she doesn't help but she hands me something long & metal and I tried to wedge it into his airway. He is now limp and I am screaming "don't die, don't you dare die!" and then suddenly it works. A trach is in place. But he is still limp and again, out of nowhere an ambu bag is in my hands. I start CPR. One {puff}, Two {puff}, Thirty compressions, One {puff}, Two {puff}...and he opens his eyes. Oh, Thank GOD!

I may never fall asleep again. But the truth is, even when I wake up I never get that relieved feeling of "Ah, it's not real, it was just a dream." I have mentioned before that I live in both fear and awe of that tiny piece of plastic. Oh damn you tracheostomy tube, damn you for being both my saving grace and my worst nightmare. There I said it.

Do you know how to perform CPR on a child with a Trachesostomy? Please learn, the life you save could be his.





Download Pocket First Aid & CPR app to your iPhone today, because if this had this been a real emergency I would have liked someone to HELP me!!

UPDATE: Twitter follower @unxpctdblessing has informed me that Android Users can click on "Market" on their handheld and search for the App name. There is also infant & adult video examples. Please download today!


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Sleep Study - Wired!

During his recent sleep deprivation study Austin was a trooper. He even tried to get in on the action.


How hard could it be?





So you start here...take 10 steps to the left...





Then you connect the X to the Y and turn yourself around...





...then you do the Hokey Pokey or sleep...or not!


{results are still pending}


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The R-Word

Special Olympics has been running a campaign "Spread the Word to End the Word" one of the most fascinating parts, aside from their diligent work to garner over 70,000 pledges to date, is the r-word counter. Did you know you can click to see exactly how many times the r-word is being written in online media? That number doesn't even count the 27 times a recent on air personality and countless others have said it out loud.

Now some might say your son is not mentally challenged, why are you so touchy about the r-word? Well I'll tell you why. It's simple and it has nothing whatsoever to do with Austin. Yes, it's true he has no cognitive delay...so what? I can still think for myself and this much I know, the use of this word in any other context than a medical diagnosis is wrong. Period. End of story.

Help eradicate the r-word from everyday speech by taking the Pledge.



When all is said and done Thumper's mom said it best, 'If you can't say anything nice then don't say anything at all.'

You can check here for events in your area to help spread awareness.


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Do You Wear Designer Genes?

In the US alone, nearly 30 million Americans suffer from one of 7000 rare diseases, that's 1 out of every 10.  Multiply that by each of their family members and friends, that's a lot of people affected by a rare disease.  The names are hard to pronounce, the symptoms difficult to deal with, yet none of that matters. Every day parents watch their children struggle just to live and in many cases they die waiting for an answer. Personally, I know of far too many Angels.

Now imagine this is your child and you are one of those people.  Wouldn't you be begging for help too?



Speaking from personal experience, having (a child with) a rare diagnosis is a difficult road to travel alone. It makes support and more importantly, information vital.  Sometimes worse than being 'undiagnosed' is having a rare disease diagnosis because there aren't many resources available to help newly diagnosed families.  You are in a haze of doctors and opinions with often no one to turn to.

Our own genetic journey has spanned over twenty-seven years and today we are no closer to an answer than we were the day we started. But we are hopeful that someday researchers will crack the code and we will have our answer.  In the meantime, we will continue to treat the symptoms and conditions that our desiger genes carry.

Since I have started blogging I have "met" a handful of families that are also diagnosed with Branchiootorenal Syndrome, that's five more families than I knew nine months ago.  I know we are not alone, but we need your help.

"The rare disease patient is the orphan of health systems, often without diagnosis, without treatment, without research, therefore without reason to hope." ~ Rare Disease Day 2010 website




There's a movement, you can be a part of it. All you have to do is wear your favorite jeans on Sunday, February 28, 2010.  That's it. Skinny jeans, Bootcut, Designer, Acid wash, I don't care...as long as you support hope.

Some causes get a ribbon, we get an entire article of clothing that's how important we are!!

The Global Genes Project and Children's Rare Disease Network  are teaming up with International, National, Parent organizations and bloggers from across the world to promote World Rare Disease Day, it's a grassroots awareness effort. 


Discovery Health will air the World Premiere of Disease Detectives, based on real-life cases from the NIH Undiagnosed Diseases Program, on February 28, 2010 at 8PM, check your local listings.


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How Do You Do It?

Why some people think it is okay to ask me this question I'll never know. Sometimes they even make it into a statement {add long, serious face}, 'Oh, I don't know HOW you do it.' Which sounds even worse because it is laced with Pity.

The HOW is not as easy to answer as the WHY. Here is my stock answer: "I'm his mother. I just do it."

You see it's so simple, it's complicated. But an answer like that just gets you a dumbfounded stare. It seems that some people want a genuine "How To" or a gritty story of survival.

I suppose I could say one of the first things that pops into my head which is "you would too" or "any mother would," but that wouldn't be necessarily be true. One of the saddest things to me while inpatient is to walk past rooms in the PICU with the sickest babies all alone day after day. It broke my heart that no one was there to comfort them, to be with them, to hold them.





One day I finally asked a nurse about it, she sighed a deep, heavy sigh and said 'you may not see some parents because they live far and cannot be here daily, or maybe they have other small children at home, the weekends are busier. But some, most are court ordered NOT to be here." Oh.My.

Meanwhile here I was twisting myself in to a pretzel; between work, home and the hospital just so my 3 month old son could see me before he fell asleep every night. And in the next room lay a baby with not one visitor the entire month we were there. I cannot tell you how many times I was tempted to go in and pick that baby up.

I cannot, in my wildest dreams, imagine walking away from my child because his life is "complicated." Yet, across this country every day there are abandoned, neglected and abused children so clearly some mothers don't "just do it." Sometimes their children are not even ill, they just chose not to.

So, yes I do it because I choose to. I do it because he is my son and because I love him. I do it because ethically, morally and responsibly everything in ME tells me it is the right thing to do. That may not be enough for someone else, but it is for me.

As to the HOW, it is really by the grace of God. I can't explain where the drive comes from, except to say it is a constant push to keep my child thriving that motivates me. There is no official 'how-to-survive-raising-a-special-needs-child' manual. We simply live it and write a new chapter each day.


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Developmental Milestones: Who Needs 'Em?

For a parent of a child with special medical needs every trip to the Pediatrician for a "well visit" can be a lesson in frustration. After all let's be honest I hardly considered my infant well.

According to Merriam-Webster, well (adj): means "free or recovered from infirmity; completely cured or healed."

So yeah, we aren't quite there yet.

To me well means he is not breathing through a tracheostomy tube his neck  or eating through a gastrostomy tube in his stomach. Well means his ears are developed so that the Nurse doesn't need to embarrass us both by attempting to stick the in-the-ear thermometer where there is no ear, which then leads to a note being taped to the front of his chart. But I digress.

So needless to say, no matter how much I personally LOVE our Pediatrician every "milestone" appointment I hold my breath, roll my eyes and force a smile.

It usually begins with a pamphlet titled "Your Baby at 9 months", or maybe some innocent enough questions:

Does he hold his head up? No.
Does he smile when you make eye contact? No.
Does he turn his head to your voice? Umm, that would also be No.

I'm smiling.

But in my head I am screaming "Isn't it obvious he is not on that paper?"

And that was just the 4 month appointment. This went on for months, years even.


*****


What are developmental milestones?

Developmental milestones are a set of skills or age-specific tasks that most children can do at a certain age {range}.

These skills are those things you read in your What to Expect the First Year book. You know, the one you finished reading before your child was even born. You probably expected a healthy, typically developing infant. If you are like me you were surprised in the delivery room or soon thereafter and painstaking changed your reading list to include travel guides on Holland.

Pediatricians use milestone charts to assess how your infant/child is developing in relation to his/her peers. Reaching a certain age and not achieving a certain or number of skills can often lead to a referral for Early Intervention services for your child. No problem. There is no shame in EI services. I love our therapists, even if they do give me homework.

It can be frustrating listening to a set of skills and realizing, very painfully, that your child has not (or may not depending on their diagnosis) achieved "normal".

That's why in our house, we also celebrate inchstones with as much enthusiasm {if not more} than the accepted milestones.

Inchstones are all the little things that your child has achieved DESPITE a diagnosis that states otherwise. They comprise all the little things that might escape the notice of your Pediatrician or your neighbor with a typically developing child, but you cherish and document.





He took his first steps with a walker at 18 months, Call the newspapers!
She pulled off her diaper at 21 months, YAY!
He understood his first signed word at 8 months, WOOHOO!
She put a spoon in her mouth at 19 months, Hurray!
He learned how to blow bubbles at age 2, Congratulations!


Every moment deserves to be celebrated and every inchstone deserves recognition. What have you celebrated with your child today?


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Duct Tape Has Many Uses

Do you see what I see?








Lest you should think *I* taped his feet to his tricycle pedals, it wasn't me! His physical therapist carries duct tape in her bag for just such occasions. Is it bad that I asked her to leave it here?


You know, just in case he decided to ride his bike tomorrow.


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Valentine's Day

Valentine's Day is yet another Anniversary for Austin. I know, I know enough with the anniversaries already, but when you have lots of "Firsts" you MUST celebrate them, right?


Two years ago today Austin came home the hospital a new child, literally. In January 2008 he entered the hospital as a two month old with a pacifier and a diaper bag.



February 14, 2008


Three weeks later he left with a Tracheostomy, a feeding tube and more hospital equipment than one should need for a three month old baby. But we quickly settled into our new life and learned a lot along the way!

One year later he was crawling, signing and growing {look at those curls!}



February 14, 2009


Today, Austin's story continues to inspire people, literally across the world. He is growing into an amazing child, full of charm, charisma and spirit.  I am very lucky to be able to spend every day watching in awe and learning from him.


February 14, 2010




Happy Homecoming Baby!!

Happy Hearts Day!!



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Snow In The Backyard

We often joke about having the beach in our front yard and the mountains in our backyard, that's the beauty of living in the San Gabriel Valley. For a mere 30 minute drive in either direction and we can enjoy both in the same day, not that *I* would try it these days.

Yesterday we were invited by Auntie Joy & Uncle Marvin to go play in the backyard. A few feet of fresh snow, some sleds, and a few crazy kids (& adults) makes for an interesting afternoon. We drove 30 minutes to Mount Baldy found a GREAT little area right off the road and had a blast.

It didn't take Austin long to realize that he could not walk in the snow, but boy did he try! The highlight of his day was sledding with Uncle Marvin and Daniel. Only one minor spill - never let an 8yo hold a 2 yo and try to steer, but all was well in the end.

Note: I must buy this boy some REAL snow boots!














Today looks like a beautiful day to head to the beach!


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Let Him Eat Cake!

You may recall that Austin has some eating issues . {cough!} But this weekend he decided to celebrate the New Orlean's Saints Super Bowl win in true French fashion, eating!!





Okay, so he was really just licking it, still Marie Antoinette would be so proud!





Cupcakes for the Super Bowl? We also celebrated several birthdays for my brothers and my nephew. So Yes, cupcakes for the Super Bowl!



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Feeding Therapy - It's Paying Off, Baby!

Yesterday was Austin's 2 Year Tubiversary!!! Excited? I know, me too. The way I see it is we can be unhappy about it or we can embrace it. So we are embracing feeding therapy and Austin has made some significant gains since we started using his Passy-Muir valve during sessions. {happy dance!}

He has been doing really well with food or drink offered to him and continues to favor things like shredded cheese and chips. He is a little salt lick , just like his mom. {I'm so proud!} You'll see in tomorrow's post just how far he has come with food.

Now mind you I said he is doing well, translation: he is not pitching food or beverages across the room {often.}

Lately we have been focusing on drinking. Just like every parent who has a child with dysphagia, we have an array of once used sippy cups. We have an arrangement, Austin & I. I scout out sippy cups and purchase them; Austin tries them once and then they go to the used sippy cup lot. The lot is FULL! We have tried them all, straw, no straw, valve, no valve...open, shut and upside down cups. So you get the idea. We had a similar arrangement with bottles, back before his tube feeding days.

Currently we are focusing on using a Nosey cup. This cup is a special plastic cup used often in feeding therapy. It is measured appropriately {one ounce of liquid} and has a cut out for the child's nose area. The special cut out is essential because otherwise a regular cup might cause Austin to tilt his head back too far and attribute to aspiration.





During a recent therapy session I was able to capture some video of him drinking from a Nosey cup.  WOOT!





All of this preparation will come in handy for his next swallow study, which has yet to be scheduled.


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Photo courtesy of Talking Child

Tracheostomy - Should I Stay or Should I Go?

The Next Step:

Austin has a sleep study tonight, Monday, February 8th {On...believe it or not his 2nd Tubiversary!!}

Based on the DLB surgery, Austin's ENT has determined that prior to his sleep study Austin's tracheostomy tube will be downsized to 3.0mm (from 3.5mm) and once he is asleep it will be capped.

What happens after that is up Austin.

With any luck he will breathe thru his mouth and nose. If all the angels in heaven unite he will also no longer need Oxygen. You get the idea.

A typical sleep study begins at 9PM and ends at 5:30AM. Austin will strapped to a number of machines and monitored, once he awakens in the morning my job is to change his trach back to its regular size. Then we wait for the results.

The offical report takes 6-8 weeks to get back to the ENT -- Can you believe the wait? So we will return to see the ENT in April to find out exactly he well {or badly} he did. Now unofficially I can tell during the study how he is doing, since I am not going to be sleeping much. For instance if he is reacting badly to the capping or needs more O2 a technichian will come into the room to remove the cap or place him on back on oxygen. So I will have some idea how it is going.

I know all this sounds like blah, blah, blah and you just want to know one thing...when does his Trach get removed?

Unfortunately, it is just not that simple. We will wait until April for the ENT's recommendation. Then in late May we will meet with the Craniofacial Team and our Pulmonologist to get their recommendations. {Can you believe it has almost been a year already?} There are several ways this could go, so I don't want anyone to get their hopes up yet. But so far things are progressing nicely towards an eventual decannulation (removal of tracheostomy tube).

Let's hope next year we have no Trachiversary to celebrate.

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Tracheostomy - The DL&B Update

As you know Austin had outpatient surgery on his second Trachiversary. Sorry for the delayed update, but I needed to get a few things clarified before I shared them.

Essentially this surgery was done for one reason: to assess the stability of Austin's airway without his Trach. So that means they took a camera and peeked from his mouth down to his lungs to make sure that "if" his tracheostomy tube were removed (decannulated) there would NOT be any obstruction in his airway.

The medical term for the procedure is direct laryngoscopy and bronchoscopy (or DL&B). Although the surgery itself is only about 15 minutes in length, Austin was sedated; so it calls for an OR, an IV and recovery, the whole nine yards. He had an entire team that consisted of his ENT, the resident ENT, Anesthesiologist, OR Nurse, Recovery Nurse and his very own room on the surgical floor before & after surgery. I guess that's what a Trach gets you these days.





We arrived at 8AM and left the hospital at 3:15PM. We hung out in surgical admitting for longer than I cared for. Austin killed some time climbing up and down the fire truck bed and watching dvds.  After a few hours Austin took his nap, which was a blessing. The nurse and I swapped places so we could both grab a bite to eat.

Then at 12:30PM we went up to Pre-Op on the 2nd floor and watched some I Love Lucy before the procedure, it reminded me of our hospital stay back in Texas. Really laughter is the BEST medicine...well, at least it helped me!

Here is what they found:

{Warning: Graphic Pictures, may not be suitable for children}









What you are looking at is Austin's Trach Tube (right, white) and some fibrous tissue/granuloma (left). That granuloma tissue was removed which resulted in slight bleeding, but was not in anyway painful to Austin. According to his ENT the granuloma nwas caused by a reaction to the trach tube (plastic) rubbing in his airway for 2 years, he does not believe it will grow back.




The second picture is the entry to his lungs...ALL CLEAR on both sides!


Read more: Tracheostomy - Should I Stay or Should I Go? to find out what Austin's ENT did with this information.


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Rocky Balboa 1, Austin 0

Austin was enjoying a fairly quick recovery from his surgery yesterday. Then, KABOOM!! woozy from the anesthesia he trips, falls down and gashes his eye. Nice work, Son! Anyone know a decent cut man?






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Happy Trachiversary?

Today, February 1, 2010, marks the Two year anniversary of Austin's airway surgery. Without a doubt it saved his life. A quick recap for the new followers, Austin participated in a sleep deprivation study on January 25, 2008 that determined his small airway was basically slowly suffocating him. Exactly one week later on February 1, 2008 he had surgery, a tracheotomy, to create an alternate airway. The crazy thing is up until that very week I had no idea how sick he really was. From the moment Doctor ENT told me he needed a tracheotomy, our lives were irrevocably changed.  For better or for worse, today is Austin's 2nd Trachiversary.





Now exactly how does One celebrate a Trachiversary? Do you...celebrate?

I suppose it depends on how you look at it. 

I could chose to celebrate the fact that two years later Austin is still very much alive and doing kid stuff. Or I could chose to bemoan the fact that our lives are filled with lots of chaos and disruption due to one little piece of plastic that I live in constant fear of losing every minute of every, single day. Tomorrow I reserve the right to complain, but not today. Today I chose to be thankful.

I am thankful that a little over two years ago I took an off-hand suggestion from one doctor and relayed it to another. I am thankful that his ENT was quick to take action to save Austin's life. I am thankful that I did not fear the Trach more than I feared losing my 3 month old son. I am thankful that I made the right decision for us, in my mind it was the ONLY choice. I would do it over again in a heartbeat.

Today I am also feeling hopeful, as Austin is once again in surgery this morning. His new ENT is going to remove his tracheostomy tube and determine if Austin's airway is stable. He will place a camera down his airway right up to his lungs. Although only about 20 minutes in length, this procedure could bring Austin one very BIG step closer to having his Trach capped and then, removed.

Today I hope that if there are any tears at all they are of joy and not sadness. But I don't want to get ahead of myself. Next Monday he has a sleep study to help further determine his airway progress. Could we really be one week away from changing our lives again? Now, that is reason to celebrate.


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