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.)

HIGH SCHOOL BIOLOGY REVIEW

• 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

IF YOU LEARNED THIS IN HS, GOOD FOR YOU, BUT I DIDN'T

• 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???  

Snow has a new name!

So far, she's been known as:

• Dang Xue
• Xue
• Mei-Mei
• Snow
• The Little One
• ...and on, and on

 But now, we are pleased to announce that we have actually decided on a name for this child!

Her name will be:

FIONA XUELAN DODGE

So, yay!  We actually managed to name another child without resorting to pistols at dawn.  

As always, we picked a name with a great deal of significance for us.  

Fiona is an Irish name that means "fair" or "white".  You just don't get whiter than this little girl, so it's very appropriate.  

Now, before I go any further, let me get one thing out of the way:

Think more of this...

Less of this...

  The name Fiona also fits in well in a couple other ways.  We have an alphabet thing going on with the kids' names (and by "we", I mean Lashi).  We are on "F" now.  More importantly though (in my opinion) is that all of the adopted children in my family get Irish names, regardless of our ethnic background.  Hence, I am a French Erin Colleen (my name literally means "Irish Girl").  

XueLan (pronounced "Shway-lahn") was a fun one to come up with.  Her given name (given by the orphanage) is Dang Xue.  Dang is, as we understand it, the surname given to all of the children in that orphanage.  Xue means "snow" and is a very popular name for children with albinism.  The other popular name for Chinese kids with albinism is Bai ("white").  We wanted Xue to be part of her name - both because it's so apt and because we want her to keep part of her old life in her new life.  

We used Lashi's Chinese dictionary app and looked up meanings of words that we thought might go nicely with "Snow".  Blossom, flower, jade, pearl, etc.  We were looking for a name whose meaning suggested her beauty and worth.  She's our little white flower, and more precious than jade.  Some words in Chinese had a good meaning but just didn't sound good with Xue or sounded too close to English words that had a less-than-elegant meaning. (think "doo" or "fang" and so on)

So, we picked our favorite, the one that sounded the best to our American ears and had a meaning that we like.  XueLan - Snow Orchid.  

Beautiful, Snow-white Orchids

Interestingly enough, I was looking at my wedding album, and it turns out I carried white orchids in my bouquet. 

See ^^ White roses, WHITE ORCHIDS, and... those other little white flowers.  Dunno, kissing Lashi - can't talk flowers.

So, there you have it.  Fiona XueLan Dodge. 

Also, we looked up the characters for Xue and Lan and confirmed them with a sweet gal at CCAI, just to be sure.  She sent us a copy of them in 3 "fonts". 

So this says (reading each line left to right): Snow Orchid, Snow Orchid, Snow Orchid :)

Now all we have to do is get her home and teach her her new name.  :)  Oh adventures!

Updated pictures of Xue!

This morning, we got two new pictures of our little princess.

Oh my goodness, she has hair!!!  It's so bright the poor little one can't open her eyes at all.

Looking down probably helps with the brightness.  Look at her little nose! Her chin!  Her chunky cheeks!!! 

I can't wait to meet this little girl.  That's my baby!!!

I have no idea, but would venture a guess that the woman behind her is her foster mother and that this is her home. 

We sent off the dossier paperwork to CCAI today, so things will continue moving along.

UPDATE: APRIL 25 - They also sent us an actual update from the orphanage that oversees her foster home.  They said she sits alone and stands with support, but does not crawl or stand alone.   So, even though she's getting so big, she will still be a baby in many ways.  That's okay.  She's my baby and we'll get her caught up.  :) 

The Adoption Process so far

Few people are familiar with the process of adopting a child through any means, and the process for those who have done so domestically, or internationally (even from China) through a traditional program is still different from the China Waiting Child program through which we are adopting Xue.

Here's what's happened so far:

Over the summer of 2011, I did lots of research and we made the decision to adopt from China through the waiting child program at CCAI.

Medical Conditions Checklist
In August, we submitted our "Medical Conditions Checklist".  Basically, this is a form with a long list of medical conditions commonly (or relatively commonly) seen in children in China's waiting child program.  You go through the list, learn about conditions that you are unfamiliar with, and check "yes" "no" or "maybe" for each.  Some examples are: cleft lip and palate, club foot (one or both), scars/burns, hepatitis B, hearing loss, albinism and low vision, missing/extra fingers/toes, spina bifida, various heart conditions, paralysis, hernia, gastroschisis, genital malformations, etc.  If you want to see the list or look into adopting a waiting child, HERE it is.
Because of my studies in preparation to become a midwife, I was already familiar with most of these conditions, but we did some extra study and discussed them together.  One of our parent training teachers said at CCAI is that almost always one parent is more gung-ho than the other, or as Lashi and I say it, "He is the anchor, I am the motor."  You really need both to get somewhere safely.

Because we try to be very deliberate and careful with our finances and planning, we made a spreadsheet listing out costs and the timeline in which we could actually pay for the adoption.  We knew that there are financial helps available, but wanted to be able to pay the whole of it if we are not able to qualify for any of those.  My grandparents very generously gave us a loan to cover the homestudy and get us started.

In late December 2011, we submitted our formal application to CCAI and attended an orientation class at their headquarters in South Denver (on S. Holly Circle). 

THE HOMESTUDY
In January and February 2012, we completed our homestudy with our social worker, Lisa Staab.  We filled out extensive questionnaires that covered everything from our relationship with our mother to discipline to our sex life and more.  I would not have been surprised to have needed to record the color of my poo for a month, but that was not one of the questions.  At least we know they are thorough.  When we had completed those, Lisa came to our home and toured it, making sure that it was safe and of adequate size to support another child.  She interviewed Lashi and I together and separately, as well as talking to each of the children.  It's one of those moments that makes a parent hold their breath with nervousness, but the children were themselves and they did fine.  Liam told her about sea urchins and said that he's fine having another sister, except that she'll be "another human to deal with".  Antigone explained our chore chart, Brian said he gets in trouble because he gets "sucked into the TV", Dmitri roared at her and told her about Spinosaurus, and Erik refused to look at her.  Yup, those are my kids!  :)
The home study also includes the clearances from our child abuse records search, letters of reference from friends, letters of recommendation from the children's teachers, financial records, and medical exam reports from our doctors. 

In February we also began collecting and producing the various documents that are needed in our dossier to send to China.

THE MATCH!
Here's where our process differs from so many other processes.  On February 16, I got a call from CCAI asking if we wanted to review Xue's file.  She was designated as a "Special Focus" waiting child and her file was sent to CCAI (as opposed to the shared list, which is viewed by several agencies at once).  We had said "maybe" for albinism on our Medical Conditions Checklist, not really giving the condition a whole lot of thought.  We reviewed her file, looked at her pictures, did internet searches about albinism and talked to a couple doctors, then decided that this would be a good match.  We sent a Letter of Intent (LOI) to China, and were sent a pre-acceptance letter back.  Her file was pulled from the available waiting child pool and is being "reserved" for us until we officially get our Letter of Acceptance (LOA) from China after our dossier is done.

THE DOSSIER
The dossier is the packet of authenticated paperwork that represents us to the Chinese Government. 
It includes formal documents such as our birth certificates, and homemade documents such as our pictures, financial statement, and petition to adopt. There's a lot more, but that's a sample.
EVERYTHING in the dossier has to be notarized, then sent to the Secretary of State of the state in which it was produced, then sent to the Chinese Consulate that oversees that state.  So, because I was born in Oregon and Lashi in Washington, our birth certificates are now in San Francisco getting "sealed" by the Chinese Consulate, while our marriage certificate and all other documents (produced in Colorado) are in Chicago at that consulate.  When those come back, our dossier will be almost done, except for...

POLICE CLEARANCES AND IMMIGRATION
Oh boy, this is an adventure unto itself.  First, we went and got fingerprinted at our local police station.  I will post separately about THAT experience.  Those prints are run through the CBI (Colorado Bureau of Investigation).  When they came back clear (finally), the prints were sent on to the FBI to be checked at the federal level.  That took another month.
Once our police clearances came back, we filled out and sent in our I-800A form (to determine our suitability to adopt from a Hague convention country) to USCIS (immigration services).  They first go over our info, then they will send us instructions (in a few weeks here, we hope) to get a second set of fingerprints done at the state fingerprinting office in Aurora (near Denver).  Hopefully that will be less "exciting" than the first fingerprinting trip.  Those prints then go BACK to the FBI for their own round of checks.  Because... the first ones didn't count?  or maybe our fingers have changed?  perhaps we're in the midst of a crime spree?  Whatever.  Let's just get this thing done. 

WHERE WE ARE RIGHT NOW
Our I-800A is being processed at USCIS.  We have not yet gotten the fingerprint appointment or cards.
Our dossier is almost done.  Our documents are being sealed at the consulates.  I need to fax over additional paperwork today to the San Francisco consulate. 

WHAT'S NEXT?
When our I-797C comes back (the approval of our I-800A), that gets sealed at the consulate, then the whole dossier goes to CCAI.  They will go over it several times, making sure everything is in order.  When it gets the "all clear", it will be compiled and bound in a red folder (one BIG folder...) and mailed off to China.  THEN, it will take a couple months to translate the whole thing into Mandarin.
Then we should get our approval letter (LOA).  After that, visa and travel arrangements.
Currently, the estimate is that we will be traveling to bring our little girl home between October and December 2012.

Albinism 101

Okay, to begin with, I feel that I still know VERY little about albinism.  However, seeing as we are going to have a little princess with albinism very soon, I'm doing my best to learn as much as I can and help my friends and family understand a little about it as well.

WHAT IS ALBINISM?
Many people think they don't know what albinism is because it's usually referred to as "being albino".  I however, feel that albinism is a condition, not an identity.  As much as I love blonde jokes, having blonde hair is a characteristic, not a defining attribute.  Same with many other characteristics or attributes or conditions we may have.
Albinism is a recessive genetic condition that affects vision and often gives the person little or no pigment in their eyes, skin and hair.  Some people with albinism, however, have very normal pigmentation for their ethnicity.
Xue appears to have oculocutaneous albinism, which is the more common type.  (The other is ocular, and affects almost exclusively males, and primarily impacts vision and eye pigmentation, not skin and hair pigmentation.)  Within oculocutaneous albinism (or OCA), there are several subtypes, which are linked to which gene and melanin-related enzyme is affected.  The stereotypical "albino" look, with completely white hair, pink-white skin, and depigmented eyes is usually indicative of OCA1A or "complete" albinism.  This is what Xue appears to have.  (In short, she will make her Viking siblings look downright swarthy.)

HOW COMMON IS ALBINISM?  

In the U.S., the rate of occurrence is about  1 in 17,000 people.  Albinism occurs worldwide, and the rate of occurrence in parts of Africa are somewhat higher.  If the rate in China is comparable to the U.S., then it stands to reason that there are a WHOLE LOT of people with albinism there.  There is a stigma associated with albinism in China, and some even consider it a curse or unlucky.  It generally makes life difficult for people with albinism. 
WILL SHE HAVE PINK EYES?
Nope!  Surprised?  Yeah, I thought that too.  I thought white skin and pink eyes were the definition of albinism!  Turns out no one has pink eyes.  People with albinism have blue, gray or violet-looking eyes, or if they have more pigment, they may have hazel or even brown!  "Depigmented irises" are actually blue!  Beautiful, gorgeous, crystal blue in fact.  :)  That's what my baby has.

So why does everyone say that people with albinism have pink (or red) eyes? 
Have you ever had "red eye" in photos?  That is caused by the light (usually from the flash) reflecting off of the blood in the choroid behind your retina.  Something similar happens in people with albinism.  The sclera ("whites") of the eyes have no pigment, nor does their iris, and when light hits their eyes at certain angles, a similar pink or red-effect occurs.  In normal light, you get to enjoy their beautiful baby blues (or whatever they are).

WILL SHE EVER BE ABLE TO GO OUTSIDE?
Absolutely.  Because of the lack of pigment in her skin, she is unable to tan and will burn quite easily and be at higher risk for skin cancer.  The solution?  Long clothing, hats, and LOTS of sunblock.  I think I'm going to have to find a brand of sunblock that we like and buy it by the gallon.  
Also, because her irises and sclera have no pigment, they let a LOT more light in than your eyes or mine do.  The result is that feeling you get when you turn the bathroom light on first thing in the morning.  TOO MUCH LIGHT!  In a great primer book on albinism put out by NOAH (more on NOAH later) called "Raising a Child With Albinism", they describe it this way: 

"Imagine the brightness of a floodlight that's always on, or the sensation of coming out of a dark movie theater on a sunny day - that is what it's like for someone with albinism."

So, sunglasses.  LOTS of sunglasses.  A family with several children with albinism suggested just having a drawer full of sunglasses.  Inevitably, the little one is going to lose this pair, sit on that pair, get in a fight with a brother and break the other pair, and still will need some to go outside.  She will probably end up with prescription sunglasses when she is older, but we'll take that as it comes. 

One "bright spot" here (oh, punny...) - our living room is always dark.  Even when the sun is shining, it just doesn't have the kind of light that we'd like.  When we were anticipating being matched with a child with hearing loss, we thought that would be a project: getting better lighting in the front room.  Turns out it's just perfect!  I love good news.

WHAT KIND OF TREATMENT(S) WILL SHE NEED?

Because albinism is a visual condition, she will need to see eye doctors more frequently than the average bear.  She will need sun protection.  Other than that, time will tell.  Many people with albinism use special adaptive technologies to help their functional vision.  Many children with albinism use occupational therapy.  Some need braille or use it in conjunction with print.  

In short: We'll see.

SO, OTHERWISE SHE'S HEALTHY, RIGHT?

We believe so.  There is a rare condition called Hermansky-Pudlak Syndrome that causes lung, bowel and other problems.  According to her medical records, she does not have a history of bruising or bleeding, which are common first symptoms of HPS.  

If anyone has other questions, I may have just not thought of them yet.  Please ask and I'll try to find out the answers.  I would like to be as prepared as I can before my little Snow Angel gets here.

In closing, the best resource I have found for information about albinism is the NOAH website.  (National Organization for Albinism and Hypopigmentation).  They have forums, resource lists, and pages for people with albinism and people who just need to write a paper about albinism.  I found that amusing and helpful.

Meet our little princess, Snow!

Now that we have received our pre-approval to adopt our little one from China, we are now allowed to talk about her online.  


No longer do we need to speak vaguely about our beautiful princess, using code names like "Snow White".  We can now use her real name!  So without further ado, meet... Snow!!!  Her name, Xue, literally means Snow.  Why?  Because she is the "fairest of them all".  

Snow in December 2011 - 11 months old.   Check out the booties that are bigger than her head!

Snow is albino.  She is the whitest Chinese girl you'll ever see.  Rosy pink-white skin, platinum white hair that sticks straight out from her beautiful little head.  She's a little porcelain angel!  She also has low vision, which we will be checking out with a pediatric eye specialist as soon as she gets home and somewhat settled.

As soon as we heard that CCAI had an albino baby's profile for us, we did what anyone would do: we Googled "Chinese albino girl".  We were pleasantly surprised to find a wealth of examples, mostly due to the successful modeling career of Connie Chiu.  

Hong Kong born fashion model Connie Chiu

Snow just turned one year old in February.  We are hoping to get her home by this fall.  Ideally, if our clearances would come through faster, we COULD (with lots of logistical and financial miracles) travel to get her in August.  I'm not holding my breath, but I AM praying.  I would like to enlist the prayers of all of you praying people to help us get our baby home soon. 

Now, for a little FAQ, punctuated by pictures of my beautiful little daughter:

Where is she?
She is living with a foster family in Nanying, Henan province, China.  Where is that?  If you draw a line between Shanghai (on the coast) and the ancient capital of Xian, Nanying is about 3/4 of the way to Xian.

Are her eyes pink?
Well, we have no idea.  She is very sensitive to light, so she doesn't open her eyes far.

Pretty Snow at 6 months old

Turns out, most albinos actually have blue eyes, not pink.  We'll just have to wait until we meet her to find out.

No, she's not bald.  That fuzzy halo IS her hair.

There is more, but I have to run now.  If you have questions, leave them in comments below.

*happy mommy dance*