Rare Disease Day

According to Mr. Webster, a “disease is a condition that prevents the body or mind from working normally". 

Rare Disease Day was yesterday, February 28.   I didn’t create a photo of Abby in the “I Love Someone Who is Rare” template that some of the other members and friends of our Unique Chromosome network did of their little unique ones.  I didn’t post about Abby’s rare disorder to bring awareness of Rare Disease Day to my friends on facebook.  I didn’t call my closer friends and family and say “do you know what today is?” followed with deep conversation of how proud I am of our daughter, how difficult some days are, how blessed I feel that God chose us as her parents, how much she’s changed our lives, adding a level of love, understanding and respect of differences that I would have never known without her sweet body in our world.

I didn’t purposefully shy away from this important day of sharing, but I wouldn’t say I embraced it either.  Right or wrong, the word disease has somewhat of a negative connotation to me, suggesting something contagious, an illness, a sickness.  And without consciously working through that reasoning, I suppose I didn’t want to label my daughter with these suggestive adjectives.  But the actual meaning of disease is spot on.  Abby’s 20p13 chromosome deletion does, in fact, prevent her body and mind from working like most other two and a half year olds.   That itty bitty piece of her chromosome 20 that is missing has caused significant developmental delays and epilepsy.  And with only 17 other known cases in the country, the rarity of her disorder leaves no roadmap of what her future will look like.   But what I think a child with special needs and an unknown future does is make the true more obvious.  We don't know what any child's future will look like.  Where they will excel and where they will be challenged.  Abby's is just more magnified. 

I’ve been blessed with a child who I’ve loved since the second I found out she was growing inside me.  I’ve been blessed with an unconditional love for different.  There was no choice of acceptance.  When I started noticing that things seemed different with Abby than with Lucy, when she was so obviously “floppy” and slow to move as an infant and I just had this gut feeling that something wasn’t right, I didn’t accidentally or purposefully judge her because she wasn’t “normal”.  I simply got to love her unconditionally, sitting in awe just watching her sleep.  Days are harder with a child with special needs.  Her not walking or eating makes things harder than if she were.  Letting my mind wander to her unknown future and what kids may say to her on the playground makes it harder.  But the hard has nothing on the amount of joy she brings to my life on a daily basis.  The hard has opened up my heart to other people.  Has reminded me of how small and out of control we are.  And also what an important responsibility we have to spread acceptance and God’s love and glory in the short time we’re here.

It’s most definitely worth stopping and celebrating her uniqueness.  Any excuse to stop and celebrate your child is a gift, special needs or not.  So I’m extending Rare Disease Day by 24 hours so I can lift Abby up and shout praises of her resiliency and hard work and pure desire to be a curious, valued, bright light in her world that moves a little faster and differently than she does.

Our Dog-Lover's #1 favorite hairy beast.

Grace

Sick sister cuddle session

Today I'm swimming in a pool of appreciation and thanks.  Feeling so grateful that Abby was sick last week and had no seizures.  Is there a word that's even bigger than grateful?  Maybe all caps and an annoying overuse of exclamation points?  GRATEFUL!!!!!  It's been a rough couple months in the health department and our house has been hit with croup, the stomach bug, ear infections, good ole fashioned random viruses and then Hand Foot Mouth disease.  Seriously, could we please find a more disgusting name for a virus?   But I guess it's fitting.  

Abby was 6 days short of being seizure-free for one year when she caught some sort of virus from Lucy's croup, ran a 100 degree fever and later that day had 19 seizures within an hour.  The day before, I was quietly planning a small celebration. We had just had her 2nd birthday party, so nothing too big but still something special to mark a wonderfully, fabulous seizure-free year for our little angel.  I didn't realize how tightly I was hanging on to that milestone until it slipped from my hands.  Like making it through an entire year would mean locking her door against all things harmful, protecting her healing brain forever. It blindsided me seeing her go from just feeling a little down and out to being completely lethargic, eyes rolled back followed by her tiny body involuntarily jerking.  It just wasn't on my radar anymore as naive as that sounds.  And my heart broke to pieces.  I was furious.  I was terrified. It all came rushing back like a mad flood, carrying me back to the days of 50 seizures a day, where I was certain we were to stay.  But that night her fever went away and took her seizures with it. 

Then three weeks later she had an ear infection, 102 degree fever and 8 seizures.  She was in La Jolla with Jarvie seeing Dr. Centers, and I almost dropped the phone when he told me.  Funny how quickly shock can sneak back into your space. 

Feeling down and cute

Two separate bouts of seizures triggered by fever and sleep deprivation.  So this past week when she had yet another ear infection and two-day fever my edgy, stressy self was not so much anticipating a seizure or spending the day staring at her with anxiety.  But I was tip toeing around the probability of it happening, not wanting to really think about it in case the law of attraction really exists.  But here we are, Abby covered in red pimply sores (because when it rains, it pours and what better way to celebrate an ear infection than to pile on hand foot mouth), feeling back to her happy, curious self.  Trucking through those feverish days with no seizures.  Thank you, God.

And in my same prayer of incredible thanks for this, I'm asking for forgiveness.  Forgive me for accidentally feeling entitled.  For forgetting what an enormous blessing every day is that Abby does not have a seizure, every day that she makes progress, every day that we have breath moving in and out of our bodies. Of course I noticed that she didn't have a seizure during this sickness.  Of course I was happy about it and thanked God for it.  It was acknowledged, smiled upon and then I went on about my day.  But with the busy-ness of life and the comfort and complacency we find in the good and "normal", it's all too easy to brush through some amazing blessings.  So I'm on my knees now screaming THANK YOU!!!

How Is Abby Doing?

“How is Abby?”  If I had a nickel for all the times I hear this question.  Well, I’d have a whole lot of nickels.  And it makes my heart smile a big-toothed grin every time.  I've realized that it's been 6 months since I've properly updated the incredible people in our lives who think of and pray for our girl.  Time flies :).

My short answer…Abby is doing great!  She is amazing.

My not-so-short answer…Abby is doing great!  She is amazing.  And if I were one of those people who could see a person’s aura, I would be blinded by her halo on a daily basis.  Her joy is busting at the seams.  And so is her will to move.  She has made such strides, learned so many things in the past 6 months, working so hard with such a sweet determination and motivation.  And when she masters something new, the celebration is oh so big.  Like, move mountains big.   

Abby sat up from lying down all on her own for the first time in May.  It was by far one of the most exciting moments of my life.  I had seen her get so close and want it so badly for so many months, yet it still felt like it came out of nowhere.  As soon as she was up, our eyes were locked and she was laughing, clapping, full of celebration.  Like "did you just see that, mom?  I did it! I DID IT!"  That look of accomplishment and pride on her face was breathtaking.  Happy tears are streaming down my face just remembering it.  She was gleaming.  It was beautiful.

I'd be a liar if I said I didn't wish things could come a little easier for her.  That she didn't have to have PT, OT and speech therapy every week to try to help replace limitations with freedom.  That it's not stressful that she's 21 months old and still only eating purees.  But...and this is an enormous, all caps, 100 underlines 'but'...the challenges make the good things, the learning to sit up on her own moments, so exciting and INCREDIBLY AWE-INSPIRING.  The smile she flashes when she learns something new or when what she asks for with a sign is understood and answered...it melts your heart into the biggest puddle.  And it's such an amazing gift to live beside her and partake in her parade of celebrations.  But I digress...I could write about that roller coaster ride for a while.

Abby is a bottom scooting machine and there are times when one of her favorite songs comes on or when I just walk into the room (she is in a fierce mama phase), and she starts bouncing with such energy that I swear she may catapult herself from sitting in frog position straight through the ceiling.

She started bearing weight on her legs in February (woohoooo!).  And now has enough strength and balance to stand at a table (with someone close or diving distance away).  And just these past few days she's been moving her feet more.  We'll be holding her up and there goes a foot flopping in front of the other one.

She says mama and hi and signs baby, eat, more, all done, drink, open, please, thank you, up, dance, slide and airplane.  And she understands it all. Ask her to honk the horn in her push car and she slams that horn.  Leave a brush on the floor and she’ll pick it up and pretend she’s taming her do.  Ask her to pet Hank more gently, and the slapping turns to soft strokes.  She gets it.  She absorbs it all.  She even got mad at Lucy the other day for not sharing her baby, and then handed everyone in the room a wooden piece of cake.  Everyone but Lucy.  Don't cross this lady.  

She still isn't eating any finger foods so Bottle and Purees continue to fuel her fire.  She has started putting the spoon to her own mouth, has a spoon trick that makes Lucy laugh without fail, and even plays a little spoon-in-the-bib hide ‘n seek for a praiseful laugh from us.
  

And she hasn’t had a seizure for over 9 months!  Can I get an Amen?!  Thank you, God.  Her last EEG a few weeks ago came back abnormal.  Cutting through all the medical terminology, she has an ongoing high risk of seizure activity.  So they won’t consider weaning her off of her meds for another year.  The news knocked the breath out of me for a couple days. After an uncommon (according to her neurologist) 'normal' result from her December EEG, I was banking on another 'normal' and didn’t leave much room in my mind or heart for anything else.

Sweet smiles after some not-so-sweet fits

This shouldn't have been a huge shocker.  I mean, our sweet girl has epilepsy and significant developmental delays due to a genetic disorder, right?  So, it's pretty unlikely for normal EEG's to come her way.  And it's not like we received new, unsettling or sad news.  And even though abnormal EEG's don't guarantee that your child will have seizures and even though it has nothing to do with illustrating cognitive delays or intelligence, it was enough to spur the fear, doubt, anger and heartbreak that I haven't felt in a while.  So, I let myself be sad.  I let my mind go to all the worry places about her future that are usually trumped by my pure love of everything she is and isn't, and the beautiful gifts that God has already poured onto us through her.  And after two days I felt a slap out of nowhere.  Hey!  She still isn’t having seizures, which is beyond amazing!  She is learning some big stuff and getting stronger every day. She and Lucy laugh together and have a strong sister love and they always will.  God has her in the palm of His hands. She is upbeat and irresistable.  She is healthy and happy.  And I'm ever so grateful for those blessings.

And how is Lucy?

Lucy is a little girl of extremes.  Extremely sassy and challenging, extremely hilarious and extremely tender and warm.  She loves Abby like mad.  She also has creative placement of her baby doll when she's teaching her to fly...into Abby's face.  I asked her yesterday what her favorite part of being a big sister was, and she said "Abby".  Profoundly simple.

She starts preschool at the end of the month, and she's pretty proud of the fact that she's big enough for school.  She went to the school's summer camp for a few weeks to get her feet wet and she was in hog heaven.  Seriously, how does it go by so fast?

Party Time

Our reason to celebrate today?  100 days of zero seizures!  

Milestones

So, the combined message from Abby's therapists and doctors is that she is at a 6-7 month old level developmentally.   It stung the first time I heard such a direct comparison.  It was hard to switch gears from the vague “she’s behind in x, y and z” to such a black and white statement.  But I understand…you need a baseline to track progress and change.  And, hey, the truth is that she is doing things that most 6-7 month olds are doing.  But she’s doing them.  And she is doing more this month that last month.  Thank you, Jesus.   And that’s the focus!  Abby has a special and different pace and she may never do things that Lucy or other kids can do, or she may do some things differently, or better!  It’s an up and down wave of finding peace in that unknown.  Finding patience.  Fully trusting God and being grateful that He has Abby firmly in His hands.  Finding a way to accept and be okay that things are different, that even if progress is slow or someday stops or never starts in some areas...that it's all okay. I'm there most of the time.  I would love 100%.

Soooo big!

We have a scooter bug on the loose.  Abby continues to be more engaged and active and now scoots on her little bottom to get across the room.  I’ve even gotten a couple visits in the kitchen from all the way in the playroom!  This is good and bad.  Seeing something across the room, having the motivation to go get it and having the desire to explore is good…it’s fantastic!  Her physical therapist, although excited that she’s moving, is less than thrilled by her technique.  Crawling has a huge cognitive benefit, so we’re supposed to discourage her when she gets her excited scoot on by flipping her on her hands and knees to drive home the whole crawling thing.  But getting in the way of that enthusiasm doesn't happen as much as I guess it should...not a fair homework assignment! 

Abby has added some other games to her bag of tricks…”how big is Abby…soooo big”, giving hugs on demand (a household favorite), waving “hi” and “bye”, shaking her head when we say “no”.  She has started rolling a ball back and forth with us...a great step toward understanding turn-taking and game-playing.  It’s pretty amazing.  I took all of these small performances for granted when Lucy was flying through them.  Everything came so easy to her and then she was on to the next trick, the next milestone.  Seeing Abby develop at such a slower pace has had its challenges, but also gives me the opportunity to soak it up, respect and acknowledge just how much these little humans do in such a compressed amount of time.   

I go through phases where it gets frustrating. Just about every mealtime is a struggle.  She eats 1-2 meals of pureed food a day, with the bottle being her main source of nutrition.  I so want her to be eating table foods like other 15 month olds, or at least eat pureed food with excitement and consistency.  I think it's a mom thing...it's one of the top 5 duties (okay, #1, really)...feed your baby!  She'll put a dirty shoe or a spikey sensory ball in her mouth with no hesitation, but baked sweet potato? avocado? banana? cheerios? puffs? even cool whip?  No ma'am.  Won't get it near her sweet little mouth.  But they say it's a great thing that she's mouthing other objects even if food isn't on her list.  A good sign that she will someday be into it.  It will come.  Be patient.

I remember the first couple months of double bath time with both girls in the tub.  Abby was 10 months old and sitting in the bath seat because she wasn’t strong enough to sit on her own yet.  Her head would hit the bar from a seizure, she’d slide around…I felt like I needed 4 more arms.  And I remember one time mid-bath I just started crying.  Baths are supposed to be fun!  It wasn’t how it was “supposed to be”.  And Jarvie calmly told me that it’ll come.  It will come.  He is my constant positive force.  I couldn't see past that day, that hour.  And it seemed like things would always be that way.  But now they splash and laugh and instead of crying about it not being “fun”, I'm scolding them to keep the water in the tub J.   I think back on that time when I get discouraged as I'm dumping yet another bowl of uneaten food in the sink, 11 months after first introducing solids.  It will come.

Lately, I've caught myself staring at her nonstop, just in awe of her bright energy, patience, love, creativity and adaptability.  It's impossible to be in a bad mood around her (well, accept maybe at 3:00 am when you'd rather be sleeping).  Yes, her path  will be different but she'll figure it out.  She enjoys life too much to sit by and watch it pass...she'll find her own ways of doing things.  Scooting to get a toy if she can't crawl, and proudly beaming about her achievement.  What a gift.  

Merry Christmas Eve!

And back to our regularly scheduled programming.  It's been over a month since my last update.  Sorry...I blame the holidays.  A joyful tumbleweed of craziness.  Merry Christmas Eve!  Abby is doing great and is still seizure free...day 68!

She had a routine follow-up neurology appointment and EEG last week.  A standard part of the EEG is having her look at a white flashing light that starts slowly and then quickens steadily until you're sure someone slipped you something funny in the lobby.  This time the tech stopped the light test short and when I asked "don't you normally do more light?" she said that she just wasn't comfortable doing more and didn't want to push her.  So that told me that something wasn't right.  We were there because even though Abby's seizures have stopped, there can still be seizure activity in the brain, chaotic background reads, etc.  But I was praying for normal, a healed brain.  And that's actually all I had left room for in my expectation file.  So when she backed off like that, I was more than disappointed...bummed...whatever word you use for bummed when you're over 30.  But the tech isn't really allowed to tell you anything (just enough to drive you crazy), so we had to wait for Abby's neurologist to call with the results.

She was out that day and it usually takes a few days to get any info so I was in wait mode, but my super hero husband called and tracked down a nurse who had her doctor's attending read it and deliver the amazing, miraculous news that it was NORMAL.  Absolutely no abnormal seizure activity.  Hallelujah!  She is the head of the division and one of the top epileptologists in the country, so I took that as true and cried some happy, happy tears.  But I still had some questions and was anxious to talk to Abby's doctor.   When I finally got her on the phone a couple days later, I asked "normal like somebody in off the street normal or normal for a child with epilepsy normal?".  And sweet music to my ears...normal like anyone in off the street kind of normal.  She said that this was not common.  That she had seen cases where a "normal child with no other issues" has had an abrupt onset of seizures with a sudden stop, but "that's not Abby and it is rare for a child like her with the issues that she has to have such an abrupt change".  She still wants her to stay on the Keppra until we see her again in 4 months and said that if things are still the same and she has another clean EEG that she'll start talking about weaning her from the medication.  Talking about weaning...a nice bend in the conservative two-years-with-no-seizures guideline that most neurologists follow.   So, we'll see!  A very Merry Christmas, indeed.

Home Sweet Home

We said goodbye to La Jolla yesterday and hello to 35 degrees and some snow remnants from a few days ago.  Love it!

Eating snow in our yard Sunday

Looking up from the playground Saturday

The girls have become seasoned airplane passengers and did great on the way home.  We dodged the "buy everyone a drink on the flight because my kids are screaming" flight once again.  But I know it's coming some day!  Sooner now that I have completely jinxed us.

Some air love

Before: fresh and excited to wear her "pack-pack"

After: mid-trantrum rolling on the clean airport floor

Our tired traveller crashed on the car ride home

It was hard leaving.  The past two months flew by, and I'm beyond grateful for how comfortable and easy my in-laws made life away from home and all the time I got to spend with them.  I can't stand the word in-laws...my family.  And seeing the girls be loved on by family that we don't get to see often enough.  Priceless.  But bigger than all the typical sadness that comes with goodbyes, lies this quiet but deep anxiety.  We'll be back for treatments in December and every month or two for a while from what I understand...it's all a bit play-it-by-ear depending on how her body continues to react, change, absorb Dr. Frymann's osteopathic wonderment. But being so far away and moving into this "maintenance" stage is scary.  I've seen Abby change into a new baby.  Yes, she's two months older which is a lot in baby years.  But she's different.  She's more alive, more curious, more connected.  And the amazing fact that her seizures have stopped.  24 days!  So, it's a bit unsettling to leave it behind.  What an incredible blessing that God led us to this woman.  And I know that His hands will still be holding her whatever state we're in.