Rare Disease Day

Today is Rare Disease Day.  So many of us go through life not knowing how "un-rare" this is.  (Okay, that's not really a word, but you know what I mean.)

According to the Global Genes Project, 80% of rare diseases are caused by variations in genes.  Here are some interesting statistics:

• There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day
• 30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population
• Similar to the United States, Europe has approximately 30 million people living with rare diseases. It is estimated that 350 million people worldwide suffer from rare diseases
• If all of the people with rare diseases lived in one country,  it would be the world’s 3rd most populous country
• In the United States, a condition is considered “rare” it affects fewer than 200,000 persons combined in a particular rare disease group. International definitions on rare diseases vary. For example in the UK, a disease is considered rare if it affects fewer than 50,000 citizens per disease
• 80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear
• Approximately 50% of the people affected by rare diseases are children
• 30% of children with rare disease will not live to see their 5th birthday
• Rare diseases are responsible for 35% of deaths in the first year of life
• The prevalence distribution of rare diseases is skewed – 80% of all rare disease patients are affected by approximately 350 rare diseases
• According to the Kakkis EveryLife Foundation, 95% of rare diseases have not one single FDA approved drug treatment
• During the first 25 years of the Orphan Drug Act (passed in 1983), only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined
• According to the National Institutes of Health Office of Rare Disease Research, approximately 6% of the inquiries made to the Genetic and Rare Disease Information Center (GARD) are in reference to an undiagnosed disease
• Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease.

Some of ones that reach out and grab me are: 

30% of children with rare diseases will not live to see their 5th birthday.

and Approximateely 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease.

Now, I'm not trying to take away from all the wonderful kids cancer and diabetes groups.  They're awesome!  They really are.  And thanks to a former presidential candidate, Trisomy 18 is certainly better known than many.  But the fact still remains that there are a LOT of kids and families out there that need support, more support than they're getting.  

So, just for today, think about those who don't have a great support system, the kids and their siblings that don't have lots of money being donated for research and camps and conferences.  And if you've got a couple more minutes, look into some of them and educate yourself.  Three years ago, I had only heard of Trisomy 13 in passing and Trisomy 18 not at all.  It's a completely different world, a wonderful world, but also a scary one.  

Chances are really good that you know people (yeah, more than one person) who are affected this way.  Reach out and put your arm around them.  Let you know you care.  Let them feel your love.

“Alone we are rare … together we are strong”

Lung Bone Connected to Your Ear Bone...

Okay, forgive the mutation of the song, but I think I may have figured things out!  Guess what, our body systems are all connected.

If you've followed the last couple of weeks, you know I've been more than a little on edge.  Aaron's pulmonary pressures, his pulmonary hypertension, have been acting up. 

For those who don't know anything about pulmonary hypertension, there is only one cure.  That's a lung transplant.  Yeah, not in the cards for our little man.   But as long as it can be controlled, it's okay.  It's when it's not controlled that problems happen.  And if there's a reason for it not to be happy, well, okay.  We'll work with it.  But when there's nothing we can point to, this mama ain't real happy.

Test-wise, everything has been looking okay.  Clinically, not so much.  Higher oxygen needs, inability to lie flat.  But guess what else will cause an inability to lie flat?  Something that I hadn't thought of, and is really hard to check with Aaron.  Something that MANY babies and toddlers get.  Something that hurts like the Dickens!!  Ear infections.

Okay, so this is his right ear.  It was easier to get a picture of.

Yesterday, I found blood in his left ear.  Ear infection.   On top of everything else, he has an ear infection.  But this morning I thought, what if it's not "on top of everything else?"  What if that's what is driving everything else?

For those who are fortunate enough not to have had them, or at least not remember them, let me tell you, imagine a hot needle poking right through your eardrum.  And yes, it's much worse when you lie down, or when you swallow (but Aaron eats through his tummy not his throat, so a non-issue).  And just putting your head up a little bit relieves a lot of the pain.  I have one daughter who has a tiny bit of scar tissue from ear tubes.  When she gets an ear infection, even now, I'll hear her muttering, "rupture, rupture, rupture," because for her, when it does, it pops through the scar tissue and all the pain goes away.


But with Aaron, you can't see his ear drums unless he's taken to a procedure room.  His ear canals are collapsed and tiny, and it's quite traumatic to try to see them unless he's put under.  And he's a complex kiddo.  With complex kids, when you hear hoof beats, you think zebra, not horse.  It's like being at the Wild Animal Park.  In his case, a zebra is just more likely, and if you guess "horse" and you're wrong, well, let's just say that very bad things can happen. 

So how does this relate to what I've been seeing?  Well, think about the last time you were in a lot of pain.  I'm sure you were feeling great, taking long deep breaths and just enjoying how wonderful you felt.  But most of us, we breathe a bit more shallow, we conserve energy, we just feel awful.  And if you were plugged into a pulse/oxygen monitor like Aaron, you'd see it, just like we do with him.

So here's what I'm hoping, praying for.  I'm hoping that it's just the manifestation of an ear infection.   I'm hoping that now that we have drainage and I'm treating it, he returns to normal.  He has done a little better the last couple days, so here goes.  Wish us luck and keep us in your prayers.  Pray that all those little bones work well together.

“ Manus Manum Lavat 
-- One hand washes the other.”

- Seneca 

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A Different Kind of Good-by

Okay, so it's bedtime.  And all three boys are
putting it off as looong as possible.
These two love hanging out and playing
with Aaron in his bed.

Many thoughts and feelings rolling through my mind.  Yep, it's one of those "therapy moments" again for me.  I've been feeling a bit fragile and a bit emotional lately.  We're back on the roller-coaster (that ride that I truly do HATE at the amusement park) again.

We've been coasting along really nicely for quite a while.  He alarms, I ignore it.  He alarms again, I send someone to check (or ignore it!) on him.  A third time, I might get up and go in.  And he'll be laughing at me, or blowing raspberries, or something else silly.

But not now.  Now he alarms and if I don't go check myself, I at least sit up quickly and listen to whatever is said in his room.  And I ask, "what's he doing?"  "How are his sats?"  "Is it a good wave pattern?"  Yep, we're back on high alert again.  Dang pulmonary hypertension.

And I'm having "those talks" with him again.  The "I'm not done" talk.  The "you get to go to school next year, and it's soooo cool over there, I went and checked it out" talk.  You know, inspiring him to work harder on those lungs, open them up, let the blood flow through kind of thing.

Tomorrow, David leaves the MTC (missionary training center) for the Oregon Portland mission.  In just over six weeks, Mary will leave.  I miss David, a lot, and I'll miss my Mary, too.  But where a lot of moms are really torn up about their kids leaving, it hasn't been that way for me.  I've been trying to figure it out because, yeah, once again, I'm the weird one.  No, no one has told me that, but I know from what others say, my reaction is outside the norm.  I was talking with Deborah about it yesterday and she pointed out that this was a "different kind of good-by."    See, it was just three years ago yesterday that we met Dr. F at Maternal Fetal Medicine (MFM).  She told us she was almost certain that our baby had something called Trisomy 18.  It was a knife right to my heart.  I had researched his anomalies (I don't like the word "defects") and knew that was a possibility.  When she said that, something confirmed to me that she was right.  I knew it then.   And I knew the odds.

So for the past three years, we have been preparing to say good-by to Aaron.  No, not every day, but it's always there in the back of our minds, lurking in the shadows of the corners in his room.  Yeah, these machines and meds and everything are our new normal, but they're still not completely unobtrusive.  And when we do have to say good-by, it won't be for 18 months or two years.  It will be a whole lot longer than that.  And there won't be phone calls on Mother's Day and Christmas.  There will be no emails or packages.   

Oldest sister and 2nd oldest
brother (#1 & #4 in our house).

And I'm thrilled that Mary and David have chosen to take this time to share their lives and love of Jesus with others.  I'm so grateful that they will have a chance to tell people the joy of being part of a family that has been sealed together for all eternity.  Because I know that like saying good-by to David and Mary will not last forever, neither will saying good-by to Aaron. 

YES, I am putting it off as long as possible.  YES, it will hurt like nothing I can even imagine.  But I do know I will get to hold him and love him again.  And he will have a perfect body.  He will not depend on machines and medicine and technology to keep his body functioning.  

Hanging with two of his "big kids"
 at the ballroom comp yesterday

And in the meantime, we'll go on building as many memories as we can.  We will continue trying to cram 70+ years of love and family into whatever time we are given.  

Saturday, he went to cheer on Deborah and Jonathan at a ballroom competition.  You should have seen this kid rocking out to the swing music.  Then he really got into it when our kids took the floor.  Yeah, he popped open his vent circuit.  Fortunately, I found the opening pretty quick and got back to video taping.  He loved getting out.  We loved having him there.  And we'll keep on keeping on.  For as long as we possibly can. 

Memory is a way of holding onto the things you love, the things you are, the things you never want to lose.  ~ The Wonder Years 

Cardiology Appointment

All tied up for my EKG on Friday.
LOTS of wires to play with!!

Aaron met with cardiology on Friday.  The good news is his echo, EKG, and labs show no change from before.  The bad news is, clinically he's showing significant signs that his pulmonary pressures are not currently under control.

Now this happens when he gets sick.  None of our bodies function optimally when we're sick.  Other things like bad air quality can also play in to it.  Unfortunately, we can't blame it on any of these things.  Air has been pretty good here lately, much better than in December/January.  And he's not sick, not at all.

So we've upped his medication and are waiting for it to kick in.  I'm told it can take about two weeks for it to be fully effective.  So for now, we're just hanging tight, a little tighter than normal because of those tight lungs!!

He's happy, really happy.  He's just needing more oxygen and to be upright.  And I'm not venturing very far away from him.  Yesterday was a ballroom competition down in Orem.  Deborah and Jonathan were dancing.  He went with us.  Even if I'd had a nurse, I don't want to be that far away from him right now.  And he had a blast!  Did wonderfully!  Of course, he was pretty much upright the whole time.  Funny how that helps with his breathing.

Hanging out at the ballroom comp.

I am watching carefully.  If he does struggle beyond what I'm comfortable (okay, not comfortable, "willing to tolerate" might be better) there are things they can do to help him.  But those things will necessitate a trip north, and probably a stay in the PICU.  So for now, we keep hoping and praying.  And just keep trying to build those memories and experiences to last a lifetime and beyond.

God gave burdens, also shoulders. 

 ~Yiddish Proverb

Home again, Home again, Jiggity-jig

Hanging out in the Emergency
Room with his IV, snoozing away.

 

Welllll, that e-mail I mentioned in the last post generated some calls.  The concern was that it might be his heart instead of his lungs.  I kind of wondered, too.  So I put in a call to cardiology. 

Now, I haven't always had the best of luck in getting return calls from them.   But in their defense, most of my calls have been about meds that needed to be refilled, etc, and it's usually taken care of, but it takes a day or two.  Um, not this time.

I put in the call mid-afternoon.  Within about an hour, I had a nurse wanting to make sure she had everything straight before talking to the cardiologist.  And shortly after that, she was calling back and saying we needed to make a trip up north, to the Emergency Room for evaluation.  Yep, fun times. 

But really, when I sat down and looked at everything, I wasn't surprised.  I was more surprised that I hadn't acted sooner.  Here's what I found:

• I can't tell if his feet are puffy, they always are.  I think they still look the same.  His hands and face are not puffy.  (Puffiness is a sign of fluid retention, and that the heart/lungs may be getting overloaded).
• His lungs sound pretty normal, for him.  I did give albuterol in the morning for the first time in a few months, just to see if it would help.  It didn't change anything.
• No fevers, no secretions.  Actually acting pretty good.  He's vocalizing a LOT around his trach even with the cuff inflated.
• About 2 liters higher overall on his O2 requirements.
• Higher needs and more unstable when he's really tired or working, like in his stander.
• Better when he's sleeping.
• Has more work of breathing overall.
• Needs his head elevated, but not much.  If I put him down, he drops to 88-90 sats, but still acts fine.  Raising his head again brings him back up.  This actually was the biggie.
• Off his vent trials.  We were doing 3x a day 3 hours through Dec, dropped to twice a day in January, and now have had to discontinue them all together.
• Except for the decline in vent trials, everything else has come on over the last 7-10 days.

So what does this all mean?  Good question.  It could mean his pulmonary hypertension is worsening, thus the request that we come up for evaluation.  It could mean he's getting sick.  It could mean he's just being a monkey and messing with mama!  We're all hoping for the last one.  Wouldn't be the first, or the last time, a child led me on a wild goose chase.

So, given that he was stable, we had dinner, Family Home Evening (subject was prayer), and loaded him up.  On our way before 7:30 p.m.

Up at the hospital they were wonderful, but it was a very long wait.  A scalp IV, labs, x-rays done, and things were looking pretty good.  There was a challenge getting an echo done, but a kind cardiologist fellow got out of her nice warm bed and came to do that for us, too.  And everything panned out pretty good.  Good enough that we didn't stay.

Did you get that?  WE DIDN'T STAY!  It is the first time we have gone to the ER for something besides needing a stitch or two to stop a bleeder, or replace a feeding tube (yeah, only 2 weeks with a n-j tube prior to surgery, and he still had to rip it out.  That can only be placed by a radiologist) where we weren't admitted. 

We do have to go up early Friday morning for a follow-up with cardiology.  And we'll also be getting a blood gas drawn to measure his oxygen and carbon dioxide levels in his blood.  I can't believe I forgot to ask for that.  It's kinda my standard measuring stick for him, and it's so simple.  But yeah, it didn't cross my mind until we were on the way home.  And we were NOT going back for that.  No way. 

So we pulled in about 2:30 a.m.  Can I tell you, the streets of Salt Lake are EMPTY at that hour of the night.  At one point, I was a little disoriented and not sure where I was.  Then I realized that about the only time I'm ever on Foothill Boulevard, it's very heavy traffic.  I'm not sure I saw five cars on it the whole way. 

We got everything tucked in and taken care of here.  Bless our nurse, it was also her last night as she's leaving for a job in the NICU at the University of Utah, she also came in at 2:30.  We are really going to miss her.  So I did manage to get a little nap before all the alarms started going off at 5:45, but oh, was morning painful. 

Today has kind of passed in a bit of a blur.  Aaron seems to be doing okay.  He's still higher on his oxygen, but not quite as much.  He still won't lie flat.  And tonight I started sucking out some pretty thick, sticky boogers from his nose (too much info?).  So it may be that the "sick" is what it's all about.  But we'll just keep on keeping on.  'Cause life goes on, and we're so glad that it does.

“And now we step to the rhythm of miracles."

― Aberjhani

Ramblings...

This is liable to be more of a ramble, and possibly not make a lot of sense, so you've been warned.  But then, I'm not sure if anyone besides other special needs moms really read it, so it may make perfect sense to them.  

It's an interesting dichotomy I find myself in.  Aaron has had three Christmases, three New Years, two birthdays.  By all signs, he's doing so very well.  We've had all sorts of yuck running through the house including two different cases of influenza.  Aaron?  He just keeps on keeping on.  Not even a cough or sniffle in sight.  (I hope I haven't just jinxed myself.)

His hair?  Yeah, that's been kind of out of control lately.  Part of me says, so what?  But then the part that's trying to fasten his trach ties behind his neck, and keeps getting them tangled in that mop, says, time to cut that stuff.  So today we did.

And like most of my other boys, he wasn't real impressed.  Unlike the others, who just grump a little and go along with it, he told me in no uncertain terms that it was not his cup of tea. 

Then, because he had hair all over, he got a bath.  Yeah, talk about adding insult to injury.  Poor baby.  I think he may think he's Goldilocks at the Three Bears cottage.  Last bath was too hot, this one, too cold.  Hopefully next time mama will get it right. 

Maybe if I hold real still, and

don't make any noise...

 

She'll leave me alone and not
do anything else???

Here's where it gets kinda strange, or whatever.  As I was shaking out the towel that had been around him during his haircut (and there was a lot of hair!) I wondered, what if this is the last time I get to cut his hair?  I don't know where that came from.  Or actually, maybe I do. 


See, there's this big goal, this hope, this dream, for babies like Aaron to make it to their 1st Birthday.  And yes, it's Birthday, with a big ol' capitol B.  Because so few make it that far, it's a HUGE milestone.  For me, it was all the emotion and adrenaline of giving birth.  So after that, everything should be great, right? 


Um, no, not really.  See, just two weeks ago tonight, a sweet five year old girl started coming down with a cold.  Her mom hoped it wouldn't be too tough to fight off.  Just over 48 hours later, Olivia earned her angel wings.  Oh, I ache for Tara and her family.  And I'm scared for me.  I admit it.  It's selfish. 

It doesn't help that Aaron's been a bit wonky himself lately.  They're not big things, and if they weren't new, it wouldn't even be a blip on my radar.  But for the past week, if he lies down flat, he drops his sats.  Again, not a lot, but enough that I'm trying to figure out what's going on.  I've put in an email to his trach/vent coordinator at the hospital.  And yes, it's an email, because I'm pretty sure it's not a big deal, at least not yet.  I've also put out a shout-out to other moms in similar situations.  There's been some good feedback, some reassuring, some reinforcing concerns. 

It could just be gas.  We all know how good that feels, but if it is, why is he all of a sudden struggling with it?  It could be his heart, his lungs.  It could be as simple as he's outgrown his trach size.  Whatever it is, it's got me on edge.  Not quite the edge of the cliff, but I can see it, and feel it.  And I've never liked heights. 

Sleeping peacefully, on just a little bit of an incline.

He's also starting the transition process from Early Intervention (those that have been providing all his therapies so far) to the public school system.  Yeah, my baby goes to school next year, crazy.  It's a brand-new world for us, and while it's going to be a really good experience, it's also different.  Another post, another time.  

So there you have it, if you're still reading this.  So much going through the brain.  Plus, it doesn't help that we didn't get a letter from David this week.  I know he's fine.  If he wasn't, someone would be in touch, but still, it would be nice to hear from him.  Please keep us in
your prayers.  I know we're watched over. 

Every possession and every happiness is 

but lent by chance for an uncertain time, 

and may therefore be demanded back the next hour.  

~Arthur Schopenhauer 

Family Pictures!

Somehow, I was under the impression that when David left for his mission, things would settle down.  Um, not really.  Just different craziness.  I'll try to get all that caught up soon.  Just know that Aaron continues to love and live and thrive.  He makes us smile and is always learning new things!



A week before David left, we had family pictures done.  And it was actually a lot of fun!  We got them back the day before David left and I think they turned out really well.  Here are some of my favorites.  I hope you enjoy them.

 

Such a wonderful gift that the Gubler's gave us in doing this.  And they were lots of fun to work with, too!  If you're looking for a fun, laid-back approach to pictures, I highly recommend them.

'Ohana means family-

no one gets left behind, and no one is ever forgotten.

– Lilo & Stitch

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