Saturday, November 25, 2017

What is Oculocutaneous Albinism? (taking it to the next level)

(yeah, I know, it's been about 5 years... stuff has happened, I'll get to it)

About 5 years ago, when I was in process to adopt my now 6 year old daughter Fiona, I wrote a brief piece about albinism, which is Fiona's main "special need".  

She still doesn't look at the camera. Probably plotting something amazing.
I've learned a lot about albinism since then.  Fiona is in 1st grade at school and thriving like nobody's business.  Her spunk carries her where her vision does not.  She is extremely adept at using the technologies provided for her in her IEP (Individual Education Plan), such as her CCTV, slant board and dome magnifier. (some examples linked - not the actual models she uses)

Crazy hair day.  The pink actually made her blend in *better* at school. 
Important note: colored hair spray comes out.  Colored mousse does NOT.  
 She doesn't suffer socially either.  We can't go anywhere in the school, and hardly get through an errand of any kind without someone yelling "HI FIONA!!!"  Everyone loves her (with the possible exception of the mother of the toddler she keeps trying to pick up and walk off with... what the heck, child?)

We couldn't resist.  She LOVES Elsa.
So we have it all in hand?  Functionally, yes.  Fiona is legally considered "disabled", but she is far from handicapped.  She has all the tools she needs to get anywhere in life that she wants to.  And she wants to!  Especially if there's food involved.  The child is a bottomless pit.  

BUT - I love to learn.  I love to deepen and broaden my understanding of things, so settling for "she doesn't make melanin, something about an amino acid" wasn't cutting it for me.  

Shortly after Fiona arrived home, she saw a geneticist at Denver Children's Hospital International Adoption Clinic.  He confirmed that Fiona has Oculocutaneous Albinism (affecting eyes, skin and hair), probably type 1, probably subtype 1A. (the most "completely depigmented" variety)  The test to confirm this conclusively cost thousands, was not covered by insurance, and would basically give us "gee-whiz" information unless Fiona became adamant that she wanted to have (or avoid having) children with the same condition.  

(Interesting fact: both parents need to not only carry and pass on the gene for albinism in order for the child to get it, but it has to be the same type of albinism. An OCA1 parent and an OCA2 parent would have children who have normal pigmentation for their ethnicity, but would carry genes for both types.)

I'm now back in college, taking pre-nursing courses in preparation for starting at Beth-El College of Nursing (within UCCS) next year.  As part of an assignment for Anatomy and Physiology, I read an article (abstract here) published by a Japanese team back in 1989, in which they isolated the root cause of Oculocutaneous albinism.  In it, I was able to learn the actual molecular level mechanisms of OCA.  Frikkin exciting for me!  (That's not sarcastic, I really dig this stuff.)

  • Enzymes are proteins that do stuff (make stuff, break stuff down, change stuff into other stuff) in the body.
  • Proteins are made of amino acids
  • Instructions for making proteins are in your DNA
  • When you need to make a protein, your DNA "unzips" in the section with those instructions, they are transcribed, copied, and used as a recipe to gather the amino acids that make up the protein.
  • DNA nucleotides (the "rungs" on the double-helix "ladder") are represented by letters.  
  • Every 3 letters makes up a "codon", which is the call-sign for a particular amino acid.
  • Protein "recipes" start with a "start" codon, and end with a "stop" codon.  
So here's the short of what happens with OCA

In order to make melanin (the brown stuff that gives our hair, skin and eyes color), the amino acid Tyrosine is supposed to go through 3 conversions.  The enzyme TYR (tyrosinase) is responsible for two of those. 

The code for this enzyme TYR in people with OCA has a problem, though.  There is one extra letter - C - stuck in about 2/3 of the way through the instructions.  That not only shifts the whole thing down by one letter, but it also messes up the recipe.  Remember that every 3 letters makes up a codon, which is a "code" for start, stop, or an amino acid.  Well, in this case, the codons are scrambled because they got shifted down one space.  Wrong signals are given this way - and in this case the "stop" signal is given (accidentally) very shortly after this extra C.  Oops.  So the resulting TYR enzyme is short.  Not only that, but the instructions for TYR are supposed to build two copper-binding sites.  The shortened TYR has only one, as the other got cut off.  Oops again.  

(Dangit, Jim, I'm a doctor, not a geneticist! Speak English!)

Okay, okay... Imagine with me that you're building an airplane left to right.  I know it wouldn't happen that way, but stay with me.  
You start building:  left wing - check, cabin - check...  and the instructions end there.  You need TWO WINGS for this thing to fly, right?  Well, sorry, the instructions ended and you only get one.  HAVE FUN!  

It's kind of like that.  

Without BOTH copper sites, TYR doesn't work as an enzyme.  It's useless.  So tyrosine cannot become melanin, and my little girl cannot freckle or tan, and she glows in the dark. (Almost - it's not something you want to wake up to in the middle of the night.  She's the cutest thing in the world, but she scared the crap out of me standing silently next to the bed.) 

So there's a thing you know now.  Isn't biology amazing???  

Saturday, November 10, 2012

Welcome Home, Fiona

I'm feeling incredibly sentimental (and very weepy) tonight.  I'm sure being awake for 28 hours straight hasn't helped the weepy factor, but of course I have other reasons.

My little Fiona has left her homeland (I cried when we crossed the China border), gained her US citizenship (cried again), and now she's home, sleeping in her room with her big sister.  She even got to meet two of her brothers today, and will meet the other two tomorrow. 
Passed out on the airplane - we got her the pacifier to help with takeoff/landings

Brian, Fiona - Fiona, Brian.  You're siblings.  Get acquainted.

Tonight as we were finishing dinner and getting ready for bed, I was thinking about the significance of "home" and what this would mean to her if she understood it.  I remembered the poem that is in my baby book.  I want to share it.

Tonight as you lie sleeping
for the first time in your bed
I feel there's something lasting
and profound that should be said.
But nothing I can think of
seems quite fitting, so instead,
Welcome home, my child
at long last, welcome home.

Tomorrow when you wake up

a brand new life will start....
A life in which you'll always be
A very special part.
So dream sweet dreams and once more
from the bottom of my heart
Welcome home my child
Welcome home.

Well, welcome home, my sweet Fiona.  

Wednesday, October 31, 2012

Finalization Day (Tuesday)

Hello from the Middle Kingdom and this parallel universe I call "having a baby again".  Fiona is a very good girl.  She's a very active, very noisy, very persistent, very adorable girl.  If anything I have written on this trip doesn't make sense, it's because of my indescribable fatigue.  Half of what I say doesn't make sense, but my traveling companions are tired too, so they don't notice. 

Tuesday morning started out interesting.  I was getting ready in the hotel bathroom and heard a bird chirping.  It sounded like it was inside.  Turns out, it was.  We think the bird came in through an upstairs window and came down the glass (which is connected between floors) into our room and promptly freaked out.  Poor little finch was not having a good morning.  Lashi opened a window and it flew straight out, no problem.  Mission accomplished. 

So, the major event of Tuesday was the finalization of Fiona's adoption.  We drove back to the registration office where we received the children on Monday, stood in a semicircle and were handed certificates.  DONE! 

After that, we went to the notary office to fill out more paperwork.  We had to climb 6 flights of sharp-edged stone tile stairs to get to the notary office.  That in itself isn't too hard, even carrying a sleeping baby, but then I fell.  I managed to catch myself somewhat and roll onto my back.  Fiona slept through the whole thing, but I have a vibrant bruise on my thigh, another on my ankle, and I was reminded of it every time I sat, stood, or pretty much did anything for the rest of the day. 

After our second day of Noodle bowl for lunch and no dinner, I was ready for change.  We went to Pizza Hut.  Now, you may be picturing "Pizza Hut", but you're wrong.  Think 5-star restaurant that happens to serve pizzas that vaguely resemble Pizza Hut pizzas alongside their menu of steaks, Chinese foods, and pasta.  Then you're closer.  The menu was entirely in Chinese and none of the staff spoke more English than "Hello" "Thank you" and "See you again".  We took a picture of the menu outside. 

Fiona didn't like her pizza much.  Then again, it was WAY past bedtime. 

Wednesday is our excursion to Fiona's home town, Nanyang City! 

Monday, October 29, 2012


She's here!!!   We went to the registration office this morning.  4 or 6 kids were already there when we arrived.  One mother burst into tears and could hardly walk into the building seeing her daughter up there on the porch.  (We needed more time to adjust)

I went around playing photographer for the other families since they told us Fiona wouldn't be showing up for about another half hour or so. 

Lashi saw her first.  I handed off the cameras and went to the nanny who was holding her.  She was perfectly calm.  We almost thought she was half-asleep.  I talked to her for just a little bit, then picked her up with no problem.  She settled right in and let me hold her close and cuddle and kiss her.  Then she "woke up" a bit more and wanted to touch everything!  Her doll, everyone's hands and face, our name cards, everything.  She did awesome. 

She is very assertive, loves to explore and touch everything, though she doesn't crawl or walk, so she wants to hold our fingers and "be walked" everywhere.  She loves mirrors, she loves banging on things, and she loves food. 

We gave her snacks at the hotel, then we went to lunch and she was not shy about telling BaBa when he was not feeding her noodles fast enough.  She had her bottle and fell asleep while MaMa was upstairs doing paperwork for the finalization tomorrow.



Sunday, October 28, 2012

(out of order) Gotcha Day morning

Rather than keep posting what I wrote this weekend, I'm going to be in the moment right now. 

Today is Gotcha Day.  It's 6:45am local time.

That means that in a little less than 3 hours, we are meeting our travel group in the lobby and driving to the Zhengzhou registration office, where our children will come to meet us. 

That is a completely overwhelming thought.  I have already shed a few tears thinking about what this morning will mean for each member of our family - especially Fiona.  I can only imagine what she is experiencing. 

She is being driven from Nanyang City four hours north to Zhengzhou by an orphanage officer.  These are not her foster parents.  I don't know how well she knows these people.  When she gets here, the other members of our group will serve as photographer/videographers while we meet her.  I have no idea how that meeting will go. 

Some kids shut down when they meet their parents, some scream and cry, some just move smoothly.  None of these is an indicator of how their attachment will go.  For instance, our friend said that her daughter (who is now 3 and very attached and happy) screamed, cried and mourned intensely for the first 3 days, then, her mother says, "It was like a light went on and she was a new child."  All of these scenarios (and more) are possible. 

I had a discussion with another very seasoned mother about tears - ours and the children's - and the many things that these tears mean.  

So when I cry today, it is out of joy for our family, the addition of another beautiful soul to the most important group of people in the world to me.  It is sorrow for her losses, her pain through these transitions.  It is my pregnancy-like emotions, fatigue, overwhelmedness.  It is love for this little stranger.  It is trepidation about the responsibility of helping her through her grief and helping her to realize that we are her family forever, that we love her, that we will protect her and provide for her and that she will never again have to face loss like what she is facing today.  It is worry about all the unknowns, variables and the learning curve ahead of us all. 

All of these feelings can be summarized as love, however.  We will face it together, we will weather it together and through better and worse, we are a family from this morning through eternity. 

Beijing Touring, dreams come true

Awesome Beijing drivers.  Everyone in this picture is moving.  Scary
Typical Beijing sidewalk.  I love this!  Look at how solid and used those bikes are!

Pretty girl, pretty water, pretty pagoda
This one is just for you, Katie Hass!  A genuine Chinese Kung-Fu Panda!

Ooh, wanna get me some of THESE in Colorado Springs.  Love the bike culture in Beijing.

Little Happy Anime-style police warning

Another awesome Beijing vehicle

I just loved the look of this pagoda
(Internet back - posting what I wrote over the weekend)

Friday, October 26, 2012

I thought I would sleep like a rock all night, given how exhausted we were from traveling 28 hours, but as usual, the hotel air did its obnoxious trick and I woke before 2am with congestion and a raging headache.  A few essential oils, a couple ibuprofen and an hour later, I finally fell asleep for a good 4-hour block. 

At 7am we got up and ready, and ate breakfast in the hotel.  Breakfast was a buffet of a few familiar things like bacon, Rice Crispies and toast, and a lot of less-familiar things like spicy sautéed bok choy, congee, salt vegetables and hawthorne juice.  It was awesome.  There were things I skipped that I look forward to trying tomorrow.  We met up with the rest of our group at 8:30a and headed out to the HuTong.

On the way, our guide George gave us some of his awesome advice and perspective.  We love George.  I’m going to put all of his “talks” together in another post.  

We went to the HuTong district, which is a preserved historical area of the elite “Old Beijing”.  They are small, now run-down neighborhoods with narrow alleys.  The HuTongs go back 800 years to the Mongolian Dynasty.  The Mongols saw the Han people’s tribal homes that the rich and court officials lived in – walled-in tic-tac-toe blocks of eight houses with a well in the center and called them a hurt (rhymes with yert), meaning “water”.  The Han people (native Chinese) changed this to HuTong. 
There are lots of the feudal symbols left there, such as the number of wooden beams above the door, the number of stairs in front, and the door stones, which tell the occupation, rank, and social status of the occupants.  

HuTong district

HuTong Pizza - classic feudal-era Chinese food

George "Sticky Chopsticks" leading us through the HuTongs
Neighborhood produce market

History lesson from George "Sticky Chopsticks"

The door stones showed occupation and status.  This one shows that the occupant was a military official (round shape like a war drum), member of the royal family (lion on the top)... and I can't remember the rest.

Door beams showed status and were always in even numbers.

Door steps also showed status and were in odd numbers corresponding to the door posts (this one was redone - it originally had 3)

A design under the eaves like this showed wealth
 We rode in bike rickshaws through the district.  That was a neat experience.  

Lashi and Antigone's rickshaw
I shared the rickshaw ride with another gal in our group.  (I need to work on names)
 We got to tour parts of one of the HuTongs, the home of Mr. Yu and his family.  His house was 200 or 300 years old depending on who you listened to. 
Mr Yu and Little Yu telling us about his HuTong four directions house
After the HuTongs, we went to lunch at a really yummy restaurant and had “real Chinese food”.  Other than having less salt than I’m used to in US Chinese food, it really wasn’t terribly different.  There were more gristly pieces in the meat, and there were some less-used vegetables, like lotus root and LOTS more bok choy. 

After lunch, we went to the government-run silk factory and silk mall.  WOW.  We saw the whole silk-making process from egg to quilt.  It was pretty amazing.  The sales people were well-trained to follow us everywhere and try to slide us into buying anything we even gazed at.  They were ready to just wrap it and get the bill ready.  We declined (me with more struggle than Lashi) and wandered into the back part of the silk mall.  I got a red Chinese dress for Fiona, Antigone and myself.  Antigone got a little fan, Lashi got a couple pieces of art (one embroidered and two on silk).  The prices were very reasonable and the quality far above what we’d find on the street.  (One benefit of super-regulated government)  

Yuan Hou Silk factory and mall - Government-run silk market
Silk worm specimens.  Each set is only 5 days older than the last.  Dang, they grow fast!
From the front: double-cocoon raw silk, single-cocoon raw silk, and double, then single cocoons
This machine unwinds the soaked single cocoons
Next, we went to Tiananmen Square and the Forbidden City.  It was YEARS of dreaming come true!  I got my degree in Asian History, and spent two years of that studying China almost exclusively.  My senior paper was on “Women in the Chinese Cultural Revolution”.  To be there in person – I never thought I would.  I have to admit tearing up several times.  It was overwhelming to me. 

Tiananmen means “Gate of Heavenly Peace”.  It was the area in front of the emperor’s palace complex, now known as “The Forbidden City”, although the name (given to the area by the poor class) really originally applied to the entire first couple rings of the city, not just the palace.  The HuTongs, the Square, etc., all were part of the Forbidden City because the poor were forbidden to go there.   

Tiananmen Square is the largest city square in the world at 70 hectares (173 acres).  It’s incredible.
One flippin'-big flower pot

In front of Tiananmen Tower
The Chairman and Me
While we were there, something happened that I had been told about, but had never witnessed.  People stopped members of our group (including my family) and asked to take pictures with them.   Over and over and over…  Antigone handled it very well.  A crowd of curious people even gathered around George to hear his lecture on the history of the Square and the Forbidden City. 

A crowd of Chinese gathered to listen to George discoursing on Tiananmen Square and the buildings surrounding it

Can't tell you how many times I tripped on these uneven stones.  Gotta watch your step on 600+yr old surfaces
Random people who wanted to take pictures with my daughter
More random people who wanted to take pictures of my daughter. 
We crossed under the street between the open square and Tiananmen tower (the one with Mao’s picture) and entered the palace complex proper.  I had no idea how big it was.  I knew the Son of Heaven, undisputed ruler of the Middle Kingdom was an audacious position, but his palace is a couple miles long.  We went through gate and courtyard after gate and courtyard.  The history is fascinating and I’ll regale anyone who really wants to know, but I want to move along here.  

Finally touching the Gate of Heavenly Peace
Inside one of the outer courtyards (we've already gone through 3-4 layers)
Beautiful Forbidden City
This place just keeps going!!!
Really big lion :)
Antigone and Lashi racing across the courtyard
Add caption
I don't know what this is, but I've started calling it "Santa's team"
One of a series of thrones in this place.  Unbelievable stuff
These very big pots were filled with water as part of the fire-protection system
The phoenix image appears over and over and represents the Empress
Dragon image also appears frequently and represents the Emperor
Pretty canal through city
Our time there ended WAY too soon.  I wish we could have gone all the way to the end of it, but even after 1 ½ hours of walking, the final pagoda was still small and hazy in the distance.  We had to turn back.  On the way back to the bus, a teenaged boy in our group got backed into by one of Beijing’s fine drivers and Antigone made a new best friend. 
Antigone and her new best friend Jaden
When we got back to the hotel, we were all wiped, but I was hungry.  I asked Lashi what the plan was.  This was his response:
Nice, guys.  I guess I'll just... eat trail mix for dinner.
Oh well.  G’night!  Great Wall tomorrow.