Playing with paper

Nothing really new here.  Niko and I just returned from an 11 day trip to LA.  I was there for work and everything went swimmingly well.  I can't complain about that.

We have been having a few in-home therapy appointments this week before the holidays.  Physical therapy to get her more limber.  Occupational therapy for her future occupation.  And speech therapy for her debating skills.

Here is a sweet moment with a piece of paper.

The stuff that Mila says...

This is completely random.

Tonight while she was sitting on the potty she suddenly said, "Obama poo-poos in the potty.  And so does Romney.  Imagine Romney in a pull-up!"  And she threw her head back in laughter.

She's so entertaining.

Rolling over!

She did it! Niko rolled over twice at her physical therapy session yesterday. On both sides! She rolled from her back to her tummy in very slow motion, but she did it like she had the ability to do it all along and was waiting for the perfect opportunity to show off.

I'm so thrilled and proud of her. I hope that this means more independent mobility for her. I'm sure she will enjoy life a lot more if she can move around as she pleases.

... a proud mama.

How old is she in I-Cell years?

I have been thinking about the irony of Niko’s condition.  It makes me think of that song by Alanis Morrisette.  Isn't it ironic?  But the irony to that song is that none of the situations mentioned in her song is ironic.

Traffic jam when you're already late.  Not ironic.  

A no smoking sign on your cigarette break.  Not ironic.

Ten thousand spoons when all you need is a knife.  Not ironic.

Meeting the man of your dreams and meeting his beautiful wife. Not ironic either.  

All of the above is simply bad luck.

I'll tell you what is ironic.  

The cruel irony with Niko’s life is that she is forever young but already old.

I-Cell kids are forever young because they don’t grow beyond the body of a 2 year old.  Their mental capacity seems to reach the ceiling of a 2 year old.  Their speech and motor movements are more like a 9 month old. 

But they are old.  With each month, their bones become more brittle.  Their joints become stiffer.  Their already limited mobility decreases.  Major organs start to fail.  As they age, a simple cold can put them in a hospital bed. 

They are like 80 year olds stuck in a 2 year old body. 

For dogs, the old rule-of-thumb is that one dog year equals seven years of a human life, more or less.  I am applying this theory to I-Cell to determine roughly how old Niko truly is. 

I-Cell children have a life expectancy of 5 – 7 years.  Of course some pass away at age one, while there are cases of I-Cell children living till ten.  With less than 20 living I-Cell children in the U.S. right now, the stats are somewhat unclear. 

I’m taking the generous number of 7 to the average American lifespan of 78.2 years.  (The U.S. ranked number 37 in the global chart of life expectancy.  Pathetic!)

So one I-Cell year equals roughly to 11.2 healthy human year.  Niko is now almost 7 months old, which means that she is actually 6.5 years old. 

Smiling at her favourite seat.

Reading with sister and papa, one of her favourite activities.

Claire's Dream

This video of Claire makes me so happy.  Claire is that 4 year old boisterous girl we met, who also has I-Cell.  In her own cute way, Claire was telling a story that her older sister decided was about her dream.  I love how animated she is here.  At the end of the video, she was signing "hug".  She's a pretty awesome girl.

I-Cell in unexpected places

Last weekend I went to visit my very good friend L.  We parked our car on Clement street.  I looked up from our parking spot and this is what I saw.

I would have never paid any attention to this sign for a cell phone shop before.  But now, a giant i-cell sign hanging above my head looks so shocking and ominous.  

Hospital fun

The hospital has become a familiar place.  Let’s see in October, we went to the Skeletal Dysplasia clinic where we saw ten specialists in one day.  And that was a great thing; otherwise we would have had ten separate appointments.  Last month we also saw her pulmonologist, her neurologist, her pediatrician, her physical therapist, and a nurse who administered the synagis shot for RSV.  We will need to get the synagis shot once a month until March because the RSV virus (which can cause bad colds for healthy children) has claimed the lives of many I-Cell children. 

So with all this time at the hospital, I start to notice the little details that most people pass over without much thought.   

I can tell I've been in the hospital too often and too long when...

When I start to recognize the faces in all the ad posters. And I've fondly given them all names, occupations, extra curricular activities and political affiliations.

When my body jerks involuntarily from the shock of hearing another language other than Tagolog.

When I start comparing the long terms benefits between Danskos, Nurse Mates and Hush Puppies footwear.

When I can tell the difference between interns and residents by their body manner.

When I step into an elevator and can guess, quite accurately, which floor and department each person will go to based on their facial expressions.

When I know where all the bathrooms are and which ones have the best changing stations. 

When I know the locations of all the hand sanitizing stations on the floors.

And how can I miss them when they are proudly accompanied by these 7 ft posters?

These posters make me quite happy. They are life size! How ridiculously superfluous? The antibacterial department had a high budget this year.  Initially I thought these two were models posing as doctors. But upon closer look, I see that the man, Ryan Knueppel, is a doctor of Infectious Diseases.  That explains his propensity for sanitized hands.  But the woman, Renuka Navaneethanathan, is a “Hand Hygiene Champion” who moonlights in Rehabilitation Services.  And you can tell she is the champion by her display of the straight finger rubbing technique.  

Bucket List

It may seem crazy to be thinking of a bucket list for a baby under six months.  But I’ve given it a lot of thought.  We just met with our geneticist last Thursday.  Among other things, we discussed end-of-life care for Niko.  As I was sitting in that office in disbelief that we were talking about end-of-life business while Niko is just at the beginning of life, I realize that it’s our duty as parents to make sure she has some fun in this short life.  Some serious fun!  I’m not talking about a picnic under a tree.  She’s got bigger things in mind.  No, not a trip to Disneyland.  She’s not into the magical kingdom.  She deserves much more, and while she’s young enough to do it. 

That sounds crazy right?  Young enough?  She’s just shy of six months.  But one of the things that hit home during our discussion with the geneticist is that she’s at her strongest now.  She can potentially survive the flu now, but the flu when she’s five years old will most likely kill her.

Hence the bucket list. 

Because she is my daughter, I can really hear the following requests in her bones.  No, they are more like demands.    

So the following is the list in Niko’s own words. 

            I want to eat Pistachio gelato while floating in a gondola in Venice.

I want to eat a hot crepe while watching my sister ride on a pony in the Jardin du Luxemberg in Paris. 

I want to watch a shadow puppet show with my cousins in Linping, China.

I want to float down the Li River in Guilin.

I want to run my toes in the clear blue Mediterranean Sea.

I want to listen to the cowbells of happy cows in the Swiss Alps from the back seat of a bicyle.

I want to taste perfect al dente pasta cooked by the mother of some guy named Giuseppe.

I want to ride in a high-speed train, to any destination.

I want to watch the Nutcracker, Live. 

I want to go to an outdoor concert.

I want to taste something spicy and then regret having asked for it.

I want to watch my sister dance on stage oneday.

Disclaimer:  I reserve the right to add to or edit the bucket list from time to time.  Though I acknowledge that the list in its entirety may not be realized, I fully expect at least three of the bullet points to come to fruition (favouring, in particular, my toes in the Mediterranean sea thing). 

Oxygen

I started Niko on oxygen three nights ago, and it’s going horribly. 

She HATES it.  I swaddle her first so that she does not have free arms to fight me.  But she twists and screams like crazy. 

The first night I attached the nasal cannula, I started sobbing.  I hated seeing her look like a hospital patient in our own home.  Kiril and I have never done this before, and we were clumsily fumbling to get the dressings on her face.  Her cheeks are so small that I had to cut the sticky film to a quarter of its original size.  We went through so many of them because they kept sticking to our fingers and not her face. 

Finally, we managed a haphazard job.  But Niko slept worst than ever all three nights.  I thought that the purpose of using oxygen is to improve her sleep.  The past three nights, she woke up about every 10 – 20 minutes all night long.  She kept trying to shake the cannula off.  I expected her to get used to it, but she obviously hates it.  Now she’s not even doing the solid three hours of sleep at the start of the night (that she used to do without oxygen). 

I’m willing to give this oxygen thing a solid month.  But in the meanwhile, Kiril’s cousin suggested an oxygen tent or oxygen hood.  I’m still not able to find those for sale online but I’ll keep looking.  And ask the pulmonologist to see if that could be an alternative option.  

     

Molecular Testing

We drew more blood from Niko to find the exact two mutations in her DNA that caused I-Cell.  This was done for a couple reasons. 

1)  To confirm that this is Mucolipidosis type II disease (a.k.a. I-Cell), and not type III or type II/III.  (There are actually types I and IV as well, but they are very very different from Niko’s condition.)  The difference between type II and III and II/III is a matter of 10 to even 50 years difference in life expectancy, as well as the severity of destruction to the body.  This also gives us an idea of care/management for her as we move on down the road.  Type II is the most severe.  The test confirmed that Niko has type II.  I’ll explain her specific mutations in detail below.     

2)  To find the exact mutations for reproductive reasons.  This is for future children, future grandchildren, our siblings’ reproductive screening, cousins’, etc.  Now that they know what to look for, they can detect I-Cell with up to 99.9% accuracy by means of CVS, amnio or genetic embryo implantation, the most accurate being the amnio.  Mila can get her blood tested when she’s 18 years old to see if she’s a carrier.    

Niko’s blood sample was sent to Greenwood Genetics Center in South Carolina, where they know a great deal about I-Cell.  We were lucky that they were able to find the two mutations (in some cases, they are unable to do so).  I’ll explain the DNA protein mutations in layman’s terms here.

The first one is what’s called a “frame shift” mutation or “deletion”.   The sequences of your DNA are written in groups of threes.  The DNA strands contain very specific messages to be read and then function according to those instructions.  For example let’s say the message is (THE) (RED) (DOG) (ATE).  In Niko’s case, two of those letters are deleted.  If you remove the H and E from the word THE, you get the following jumbled message that makes no sense, which is a frame shift.  (TRE) (DDO) (GAT) (E..).  So the instructions make no sense.  The proteins are not instructed to move to the proper locations thereby leading to excess storage of proteins in her cells.

This first mutation is the classic I-Cell mutation. 

Her second mutation is a “stop-change” and incorrect lettering mutation.  In even more simple layman’s terms, her strands are misspelling phrases.  I read in the report that the exact letter that was wrong is a “T”.  Instead of the correct letter “R”, she has a “T” in its place.  Added to that, she’s got periods or stops in the instructions.  So instead of a continuous message, there are erroneous stops placed.

This second mutation is an undiscovered mutation.  They have not recorded this specific mutation before.  Which of course launched me into a panic thinking that we are on a new painful journey to discovering her true condition.  But before I was able to get carried away with this new fear the geneticist said, that based on the severity of the second mutation, Niko does have I-Cell.  Furthermore, he says that without even looking at the molecular testing results, he can say with all certainty by looking at Niko that she’s got I-Cell (ML type II). 

This geneticist has seen one other I-Cell patient and maybe five ML type III patients.  In fact, he did see an additional case of I-Cell, but that fetus was so severely affected that it was not compatible with life and died before being born.       

I’ve settled more into this seat now.  It’s not a comfy seat.  The springs are all busted, rusted, the cushion’s deflated and… well… it’s a pain in the ass.  I’m not happy about it; I don’t think I’ll ever be.  But I love this little girl.  And I love my family.  I am making a pledge to myself, and my little clan, that we will live our lives to the fullest, that we cannot deny ourselves (or Nikola) the right to have fun and enjoy this world.          

11 pounds!

Niko is now 11 lbs 5.5 oz to be exact.  She’s come a long way. 

Well I've been cheating a little.  Three times a day, I give her a bottle of my expressed breastmilk with added formula.  I mix one scoop of formula to 80ml of my milk.  Initially I thought that was going overboard.  But the doctors were threatening to tube feed her through her stomach if she didn't gain weight.  And her pediatrician recommended adding formula to my milk.  So I'm giving it a shot.  I started with one bottle a day and slowly increased it.  She's definitely plumped up and she finally has cheeks.  I'm really enjoying her new soft rounder look.  She looks and feels like a solid baby now.  She used to feel so fragile and limp.    

Let’s show off some of the things she can do now.  I know that these milestones are no big deal for “normal” babies.  But for Niko, each movement is huge progress.  I’m so proud of her. 

She can transfer toys from one hand to the other.

She can roll to her right side from her back. 

She no longer looks like a rubber chicken.    

You've come a long way baby!

22nd of October 2012

An important person to us just passed away.  This hurt more than I expected.  He had battled a rare form of cancer for over 7 years.  I won't mention his name or his relation to us because that was one thing he requested.  He didn't want his passing to be announced in any form.  So I'll respect that.

He left me this note about courage.  Of the many kind words I've received about Niko, these words resonated with me.

"Your heart must break many times a day. 

From here on, it's all about courage, for courage will give you strength. No point fretting about miracles, wonder cures, medical breakthroughs.  That will take away your strength.  What's in your hands is loving, and there I feel your total commitment."

Some things make me happy…...

… like this video sent to Kiril from his German client.

 

I know this is rather random, but this made me laugh so hard that my face was covered in tears (the good kind) and my stomach ached like I've completed 50 stomach crunches. And I've not laughed like this for a while.

Physical Therapy

We went in for a couple physical therapy sessions at our hospital.  I really liked our therapist.  She talked with a lovely deep earthy voice and had a firm and secure touch.  She really worked Niko all around.  She stretched her limbs in all directions and placed Niko in many different positions.  

I didn’t realize until now that I hardly move Niko around at all.  Then I started to feel like a bad mother.  In general I don’t push her at all.  She doesn’t ever exert herself physically, and therefore I am not in the habit of exercising her.  When older sister Mila was a baby, she was so extremely active that I found myself chasing after her all the time.  I never had to encourage her to move around.  So now I have to remind myself all the time to help Niko use her various muscle groups to develop strength with the goal that she may enjoy some independence in the future (like sitting up or rolling over).

Because Niko hates tummy time I never place her on her stomach.  The physical therapist showed me other options that would not be so taxing on her spine while engaging the same muscle groups that tummy time would exercise.  

Here are alternative options for tummy time.

I learned a bit about Niko’s current body limitations.  She has stiffness of her arms and can hardly move her arms up to touch her head.  Her knees and ankles are also stiff.  The physical therapist advised me that to help Niko flex her feet.  Because she will not be placing her weight on her feet, they can eventually stay into a pointed position forever.  

So far Niko never uses her hands or arms.  So I've never bothered buying her grabby toys.  And in her first physical therapy session, she was able to transfer the toy from one hand to the other.  Again, I felt like a horrible mother.  The weight of her condition made me forget that I should actually treat her like a regular baby.  So I went out immediately and bought her some toys.   

Physical therapy for a five month old is not very exciting, but here are a couple videos.