Rare Disease Day

Tomorrow, February 28, is Rare Disease Day.

I first became aware that Rare Disease Day even existed a couple of years ago when a friend posted something about her son's rare genetic disorder in honor of RDD on facebook.

A disease (or disorder) is defined as rare in the US when it affects fewer than 200,000 Americans at any given time.

Rare disorders have affected two members of our family.

At one time, we thought our daughter, Melissa (pictured above), had a combination of Fetal Alcohol Syndrome and a rare genetic disorder known as Cornelia de Lange Syndrome.  The second of those two diagnoses has come into question, mostly because she's doing EXTREMELY well - better than most children with CdLS.  Missy's geneticist really isn't certain what her actual diagnosis is.  She has some characteristics of Fetal Alcohol, and some characteristics that don't quite fit with just that diagnosis. So... she's sort of a mystery.

Elliana's diagnosis was certain.  Tetrasomy 9p.

So how rare is 'rare'?

• There are about 400,000 Americans currently living with Downs Syndrome.  (www.ndss.org)
• The exact incidence is unknown, but between 10,000 and 30,000 people currently have CdLS (en.wikipedia.org).
• The number of known cases of Tetrasomy 9p:  about 50.  Ever.  (www.rarechromo.org)  I don't think any of those 50 are currently living.  That's 50 reported cases in all of Tetrasomy 9p's medical history.
• Tetrasomy 9p is rare enough that my spellcheck doesn't even recognize the word 'tetrasomy'.

The main purpose of Rare Disease Day is to raise awareness about rare diseases/disorders.

Where Missy is concerned, I'm not real sure exactly what we'd be raising awareness about because her diagnosis isn't certain.  I guess we could try to raise awareness about the need for more genetic testing, so that we can have a diagnosis.  But to be honest, it really doesn't matter what her diagnosis is.  Missy is happy, healthy, growing (however slowly it might be), and she raises awareness about herself every single day.  :-)

And I don't know that I care all that much about raising awareness about Tetrasomy 9p.  I think I care more about wanting people to know about Elliana.  I wish I could articulate why I want people to know about her.  I wish I knew what the purpose of her life was.  Is.  But I don't.  I know that her life does have a purpose.  God created her with a purpose.  And that purpose is being fulfilled right now.  

There are big events being held all over the country tomorrow.  Small events, too.  I'd like for Jason, the kids, and me to do something tomorrow to sort of honor the rare disorders represented in our family. But I have no idea what to do.  

Actually, I do have an idea.  But I'll have to write about that later...

'Those' Days

It's strange how a building can hold so much significance.  Memories.  Emotions.  Maybe it's not that way for everyone.  Maybe I'm among the minority of people who have strong emotional ties to a giant piece of concrete.  :-)

The church we attend is in the process of moving to a different location.  We've been in our current location for over 6 years (I think??), and I have so many memories there.

Memories with our good friends, Jeremy and Gina, who are now in Japan.  Jeremy was the pastor for... well, I don't remember how long - longer than 6 years.  He baptized Levi, Missy, and Seth in that building.  Long chats with Gina in that building.  Piano lessons with their son, Josiah, there.

I have memories with the band and all of its former and current members.  Cutting up with them, bossing them all around, pointing out who was out of tune.  Memories of our babies sitting in my lap while I was behind the piano during band practice.

I have memories of worshipping there.  Worshipping well, and struggling to worship.

The last Sunday that I can remember in any detail in that building is September 30, 2012.  The day I was admitted to the hospital.  I remember what time we arrived at church, where we sat, who we sat with (Jeremy and Gina - it was their last Sunday at our church before leaving for Japan), a couple of the songs we sang, the luncheon after church.  And I remember how easily I cried throughout the service - because I strongly suspected my water had started leaking, and I was so afraid of what that meant for Elliana.

Our church is moving, and it's been really hard.  It's another goodbye.  Even though it's just a building.    We have to be completely moved out by the end of this month - next week.  So this morning, I went over to our church to go through all of the 'music stuff'.  What started out as one task turned into something much bigger - much more packing up and tearing down than I originally intended, and more than a few tears.  (Which is sort of embarrassing to admit - I cried over a building.  Sometimes, I exhaust myself.)

My poor sister bore the brunt of my meltdown on my way home this afternoon.  She called just to say 'hi', and I tried my best to sound 'normal', but that lasted all of like, 5 seconds.  Then I was a bucket of tears, trying to explain why I was crying - that I had to go pack up all of our music, and it was just hard.

I feel like this makes no sense.  But it makes sense to me.  That building is where so many significant things happened.  It's the last place I have memories with Jeremy and Gina before Elliana's birth, death, funeral, and their move to Japan.  It's the last place my Elliana was alive and kicking before our week in the hospital together.  It's the last place that life resembled something somewhat close to normal (even though nothing was normal during those last 3 months I carried Elliana) before my daughter died.

I've had to say 'goodbye' to Elliana.  I've had to say 'goodbye' to Jeremy and Gina when they left for Japan.  Leaving this building feels like another big 'goodbye'.

This day has turned into one of 'those' days.  The ones where motivation is gone, tears come easily, my house gets neglected, and I snap at the kids too quickly.  And even Chris Tomlin's music falls on deaf ears.

I Know Who Goes Before Me

The other day, I told a Christian musician, Mandisa... to shut up.  (And I feel really bad about that, by the way.  I'm sure Mandisa is a really sweet lady.)  Well, I didn't tell her to shut up.  Just the words to one of her songs coming through my van speakers.  She was singing something (Actually, what I'd really like to say is 'She was singing some crap about...', but I know it's not crap.  AND, I'd feel really bad about writing that if Mandisa ever actually read this.  Which is about as likely as Chris Tomlin ever reading that letter I wrote him.)...

Where was I?

Oh, right.  She was singing something about holding on just a little bit longer because He (God) knows this (a trial) is gonna make you stronger, and the pain ain't gonna last forever, and things can only get better.

Mandisa must be a silver-lining kind of person.  Which is fine.  Even good.  The world needs silver-lining people.  God made silver-lining people.

Ok.  I know the whole 'this is gonna make you stronger' thing isn't crap.  But it doesn't help me AT ALL.  I don't care about being stronger.  Is that really why all of this happened?  To make me stronger?

THAT just makes me want to throw something.

So a few days ago, I was being really rude to Mandisa (and I'm really sorry about that, Mandisa), and today I'm listening to my good friend, Chris Tomlin, with a slightly softer heart.  Even thinking about new songs the band could learn.

Sometimes, I really think I might be going insane.

One of Tomlin's new songs is getting a lot of air time on the radio - 'Whom Shall I Fear?'  To be honest, the first time or two I heard it, I wasn't all that excited about it.  (Don't tell Chris I said that.)  But... it grew on me.  A lot.  One phrase that I've been pondering:  I know Who goes before me.

He goes before me.

I'm probably not going to articulate this well because it's been so long since I've tried to actually think about things like this.

In fact, I sorta want to just quit before I even try to write.  It's taking an awful lot of energy to even form the next sentence.

He goes before me.

Well, rather than try to put into words everything that comes to mind when I think about what that phrase means, I'll simplify.  It boils down to this:  He goes before me - moment by moment. Today.  And He holds the future.  He knows where I'm headed, and He's got me.  I'm safe.  My salvation is secure.  I can't ruin it with my lack of faith (or even with my 'shut up, Mandisa' or throwing-shoes-at-people moments).

And... (big sigh)... a year ago, He had already gone before me.  A year ago, before Elliana was even conceived, He held my future.  He held her future.  And it's more than that.  He walked this road before I did.  He knows losing a child.  He knows seeing the lifeless body of a child - His child - His own Son.  

He walked this road before I did.  And He's walking it with me now, even if I'm ignoring Him the whole time.  And even though I know that's not ok - I shouldn't be ignoring Him - it is ok.  He's not going anywhere.  He's gone before me, and He's got me.

Monday's Appointment

On Monday morning, I took Missy to her appointment with the plastic surgeon.  I wrote about how hard it was to think about going, and blogging helped me figure out why I was dreading the appointment so much.  This is an update - my account of how Monday actually went.

I guess every story needs a little bit of comic relief.  Most of my posts don't have ANY comic relief, but this one will.  Any story with 3 preschoolers is bound to have its funny moments.

Comic Relief Moment #1:  So I drove into the hospital parking garage, parked, and proceeded to unload the van.  I pulled my double umbrella stroller out of the back, put Seth in one seat, Missy in the other, and then had Levi climb onto the back.  Then I high-tailed it through the parking garage, pushing a good 90 pounds worth of kids.  We're quite a spectacle.  :-)  Some people look at me like I'm nuts.  Some people smile politely.  Some people comment on how cute the kids are.  Some people say things like, 'Ya know, whatcha need is another kid on there.'

We made our way up to the plastics office, and as soon as we walked into the waiting room, a couple who had already seen their doctor was making their way out of the office - carrying a dark gray infant seat with bright pink trim.

*I'm* supposed to be carrying a baby girl's car seat into this office.

The two receptionists were both helping other patients.  Seth and Missy had climbed up into chairs at the window overlooking the top level of the parking garage and were playing 'I Spy'.  I waited a minute.  Two minutes.  Five minutes.  Good grief.  The wait to check in better not be an indication of how long we may be here today.

Then Levi:  'Mom, I need to go potty.'

*BIG. SIGH.*

Comic Relief Moment #2:  I took all 3 kids to the potty.  I took full advantage of the trip and made them all 'try' in hopes that I wouldn't have to make any more potty trips (because taking 3 small children to the bathroom is no walk in the park).   That must have been the busiest bathroom at Baptist; I think we were able to provide a good laugh for several women that morning.  Seth went first, standing on top of my shoes so that he was tall enough to pee into the potty.  And then:  'Look, Mom!  I did it!'  Missy next, telling me in her best whiny voice, 'But Mom, I don't need to go potty.  I already went.'  (tinkle, tinkle)  Then Levi:  'I don't need to wash my hands.  I didn't touch anything.'  And to top it all off, Seth:  'Mommy, do you need to go pee-pee?'

Yes, we are quite a spectacle.

We went back into the waiting room where another couple carrying another girlie infant car seat was checking out and scheduling their return appointment.

Felt like a knife in my heart.

We didn't have to wait too terribly long (because the potty trip took a good 10 minutes), and we were called back to an exam room.  And we waited some more.

Comic Relief Moment #3:  After waiting about 20 minutes or so, the kids started asking when the doctor was going to come in.  I told them I didn't know, but I hoped it would be really soon.  So Seth (trying to help), in his loudest growly voice, looks at the door and says, 'Doctor, come in here NOW.'  I couldn't help but laugh, which made him think that he should continue.  'Where ARE you, Doctor?!?!'

It didn't work.  The doctor didn't come.

When he finally did come in, it seemed that he had reviewed his notes from Missy's last visit.  But apparently, he doesn't make very good notes.  He said, 'I know that the last time you were here, you were still recovering and we decided to postpone Missy's fistula repair.  Are you in a better place now to go ahead and schedule surgery?'

Umm... what?

If there hadn't been small children present, and if I hadn't been fearful of being slapped with a lawsuit, I might have removed my shoe and thrown it at him.  I was prepared for either complete ignorance, or compassion.  But I was not prepared for that.  Trivializing it.  In fairness to him, I don't think he remembered the circumstances.  Or... maybe he never actually knew the circumstances.  I don't know.  I'm trying to give him the benefit of the doubt.

I fumbled my way through the rest of the conversation.  We decided to schedule surgery for spring break.  The kids and I had to wait some more for the surgery scheduling lady to come in and talk to me.  They were getting restless.

Comic Relief Moment #4:  When the surgery scheduling lady came in for the second time, Seth had reached his limit.  She was giving me dates and details, I was writing things in my calendar, and Seth was talking the entire time.  'Mommy, I'm ready to go now.  Mommy, can you get up?  Mommy, will you pick me up?'  Finally, he climbed up into my lap (well, he squirmed his way through the hole between my arm and the calendar on my lap where I was writing - and I was trying to finish the conversation with the surgery scheduling lady), put his hands on my cheeks, turned my face to look at him, and said, 'Mommy, it's time to go now.'

The surgery scheduling lady got Seth's subtle 'hint'.  We packed up our stuff and started to head back out to the waiting room.  Several nurses and a couple of the office staff ladies were all sort of parked at the office exit.  And when we walked by, they were saying, 'Oh, look at her.  She is so cute!  She's just adorable! I love her little outfit.  You are just the cutest little thing!'  They were talking about Missy.  And she is cute.  REALLY cute.

But tears stung my eyes.  I was thinking about my other little girl, and how the nurses and office ladies might have been exclaiming over her.

And one more knife - another baby girl headed into the plastics office as we were leaving.

Is someone *trying* to torture me????

I should say - I saw no other children in the office that day.  No 2-year-olds, 4-year-olds, 10-year-olds.  Just babies.  Four babies.  Three of them tiny baby girls.  Sometimes, this really does feel like a cruel joke.  I'm pretty sure this isn't a cruel joke.  I'm pretty sure that God doesn't do that.  But I really don't understand His sovereignty right now.

I wish I had a comic relief moment #5.  I could have used one more.

So that was our trip to the plastic surgeon's office.  It was hard.  One of those mornings that I felt like I could burst into tears at any given moment.  I think if I'd only had Missy with me that day, and not all three of them, it would have been much harder.  Wait - something about that sentence doesn't sound right.  Maybe I should say - having all three of them there prevented me from sitting down in front of the elevators and sobbing.  Not only did they keep me busy, they also distracted me, and even made me laugh a couple times.  :-)

The Orange Flag

I went to the cemetery today.  And as I drove up, I noticed the time.  It was right about the time Jason was putting Elliana into a basket that Funeral Home Man brought to the hospital, on this date, four months ago.

Four months.  She would have been four months old yesterday.  Cooing and smiling and developing a little personality.

I remember the morning we went to the cemetery to see Elliana's plot and (attempt to) pick out a headstone.  The day after I went home from the hospital.  Four days after my c-section.  You don't do things like that after major abdominal surgery.  You don't go places and pick out cemetery plots and headstones.  It felt so very wrong.  Cemetery Lady was very kind.  Very compassionate.  We sat around a conference table looking at a map of the cemetery and a piece of paper with headstone options.

So very wrong.

And then Cemetery Lady took us to what she affectionately called 'Baby Land' - the small piece of land in the cemetery just for babies.  I wish I felt affectionate towards that name, but I don't.  It sort of makes me want to throw up.  No, it does make me want to throw up.

I remember driving up, getting out of the van, and following Cemetery Lady to the edge of 'Baby Land' where a little orange flag marked the spot that Elliana's body would be buried the next day.

I don't remember if I said anything.  I think I cried.  What do you say at a moment like that?  'Yes, I like this spot.'  'This place is perfect.'  'I think Elliana will like it here.'

(Throwing shoes, wine glasses, fine china, vases and smashing laptops to pieces *here*.)

Fast-forward 3 days - October 12, I think.  We visited the cemetery.  The dirt was still freshly shoveled. There was hay on top of the dirt.  Pretty pink roses.

And that little orange flag was was sticking up out of the ground right next to Elliana's spot.

Confession:  my first thoughts were so incredibly self-centered.  Surely, that flag doesn't stay there all the time, just marking where the next plot is.  It's not very pretty.  If it has to be there, it should at least be pink.

My next thought:  What if another baby has died?

A couple days later, I had my answer.  Another mound of freshly shoveled dirt.  More hay.  Blue flowers.  A baby boy, one week old, had died.  Another mom had buried her baby.

It sounds weird, I know, but I think of them as neighbors.  I've never met those parents.  But when I go to visit Elliana and brush all of the dirt off of her stone with the little pink scrub brush I keep in the van, I clean Baby Boy's stone, too.

And yes, I really do keep a little pink scrub brush in the van to clean her stone.  It might be weird, but it's the only thing I can do to 'take care of her'.  I have no baby to feed, no diapers to change, no spit-up-covered clothes to wash.  I have a stone.  And a metal vase.  So I clean the stone, and I put pretty flowers in the vase.

Her flowers are still the pretty purple and yellow ones.  And there's a sparkly yellow butterfly in there, too.  But today, I don't care about the stupid sparkly butterfly.  Or fake purple flowers.  I just want her back.

My heart aches tonight.  Remembering the hours after Funeral Home Man took her away.  How I wanted to hold her just one more time.

Today when I went to the cemetery, the little orange flag was there.  Next to Baby Boy's stone.  Another mom will be burying her baby this week.

My mind feels like a jumbled mess this morning.  I'm hoping that writing will help to make some sense of it, but it might just be... a jumbled mess.

Today is February 4.  My other daughter, Missy, has an appointment this morning with a plastic surgeon.  When we got Missy as a foster baby, she had a cleft palate, among other 'malformations'.  (I hate that word.)  So when she was 10 months old, she had surgery to repair her palate.  We've been seeing a plastic surgeon about once per year to follow her progress and make sure there aren't any fistulas (holes) in her palate.

Missy had one of her follow-ups with the plastic surgeon on October 1 last year.  The day after I was admitted to the hospital.  My saintly parents took her over to the great big scary maze at Baptist hospital and spent almost the entire day doing Missy's speech test and waiting to see the plastic surgeon.  That night, my mom and Jason brought the kids to the hospital to see me, and I vaguely remember my mom telling me something about the surgeon finding a fistula and wanting to do another surgery sometime in the future.

I guess the future has arrived.  Baptist's automated appointment reminder lady called me last week to remind me of an appointment with the plastic surgeon February 4 at 10am.  I'm sure my mom told me about this appointment, but I didn't put it in my calendar.  It's not been on my radar at all.  And (everything else aside), it's not a big deal.  It's an appointment.  We're going to talk to the plastic surgeon about scheduling surgery (I think).

But it is a big deal.  It's like the week of October 1st all over again.  The week we fought hard and purposefully for Elliana's life.  The week she was born too soon.  And the week she died.

Surgeons are busy people.  I'm sure that Missy is just 'another patient', and that Dr. T. probably won't remember anything about her last visit.  But... what if he remembers?  That my parents brought her?  Will he ask questions?  (Probably not.)

We saw Missy's ENT doctor at the beginning of November - I think he did remember that when Missy had her ear tube surgery in September, I was pregnant.  And he asked some 'indirect' questions.

I'm not scared of the questions.  I don't mind questions.  I think I'm scared of whatever emotion may choose to display itself when I try to answer the question.  It's the emotions and the tears (and the occasional shoe-throwing fantasy) that aren't predictable.

And... I can't help but think that by now, Elliana would have seen a plastic surgeon.  Probably Missy's plastic surgeon.  Elliana had a cleft lip.  And a cleft palate.  Had she lived, I would have been taking her to the great big scary maze at Baptist.  I would have been carrying my infant girl into that office.  The surgeon would have been making a plan to repair her lip, and then her palate.  She may have even had her first surgery by now.  

If Elliana had lived, going to Baptist wouldn't be just about Missy anymore.  Elliana would have been making her mark there, too.  And she would have been getting lots of ooh's and aah's over all of her blond hair.

My heart hurts more this morning.  I miss her.

The Un-Pessimistic Post

I feel like I've spent the last week or two with my hands over my ears, eyes squinted shut, yelling as loudly as I can.  If you're into the whole 'phases of grief' thing (and I'm not), maybe I've slipped back into denial.

In some ways, I think it helped.  In other ways, it didn't help at all, and reality is still reality.  Elliana is still gone.

But... I'm taking a short vacation from my normal pessimistic, life-sucks, screw-the-silver-lining outlook on life and devoting a couple paragraphs to what my days in denial DID for me.  Not sure I can go so far as to say that I'm feeling 'optimistic', but maybe un-pessimistic.

Here's to looking on the bright side.

'Denial' (or whatever you wanna call it) gave my brain a break from the big black hole of grief.  For a little over a week, my thoughts have not been consumed with my daughter's death.  They have been consumed with cleaning, organizing, cooking, baking, and planning.  And baking some more.  And just a little bit of shopping.

I've tried several new crock pot recipes (only a couple got big thumbs-up from the kids) and baked cinnamon bread/rolls twice.

That's a LOT of cinnamon rolls, by the way.

I've gotten caught up on laundry several times.  Because in my house, I don't get caught up and stay caught up.  I get behind again in like, an hour.

I took all 4 kids to the dentist at one time and played the part of the extremely enthusiastic mom who will try just about anything to get the little ones to open their mouths for the dentist.  Did I mention that I was extremely enthusiastic?

I've made significant progress on a chair I'm recovering.  Trying to piece together the cushion covers with piping and zippers has scared me.  But I finally just bit the bullet and started.  I (well, Jason) put the partially finished chair up in my living room (right in the middle of where life happens at our house) where I can't ignore it.  Now one cushion cover is finished (with the crappiest zipper job I've ever seen), and I can see the light at the end of the tunnel for the other one.  Maybe zipper attempt #2 will be more successful (see?? un-pessimistic??).  I'm sort of hoping 'denial' lasts until the chair is complete. :-)

I've finished (and Jason has hung) the wall of pictures in my living room.  I wasn't happy with the way one of the pictures looked, and it about made my me cry thinking about trying to find a replacement photo.  It took me hours to figure out which ones I wanted in the first place.  But... my brain must have needed another project.  I decided I wanted a picture of Elliana's flowers to go in that 8x10 spot.  The flowers I put at the cemetery at the beginning of January are especially pretty, I think.  Levi picked out the colors - purple and yellow.  (The last time he went to the 'garden' with me, he asked if Elliana liked his flowers.  :-)  I told him that yes, she most certainly did LOVE them - because her big brother picked them out.)  So I went to the cemetery one morning and took a few pictures of the flowers.  Felt a little bit weird.  To take pictures of the flowers at a cemetery.  But I did.  And... I'm no photographer.  I knew I wanted a picture of JUST her flowers (because who wants to walk into my living room and see a cemetery landscape on my wall??), and I wanted it to be good enough quality to be blown up to an 8x10.  So my friend, Dubbie, who is an aspiring photographer, came and did a little editing magic.  I've ordered one, and... we'll see.  This taking-a-break-from-pessimism is sort of helping me anticipate that it's going to look just as good on my wall as it does in my head.

Think I'll stop while I'm ahead.  I'm afraid if I keep writing, the silver lining will disappear.  I'll let this post just be... un-pessimistic.

:-)  Look.  It's even smiling.