Annabel Leigh

On November 21, 2016 we welcomed our second baby girl Annabel Leigh, nine days early 7.4lbs 20 inches long, into our family. She is an absolute dream of a newborn who nurses, sleeps, and is so patient, as we care for her older sister Scotlyn. There were many times during my pregnancy when I wondered if Annabel, like Scotlyn, would have Albinism. I tried to tell myself that I didn't care and it didn't matter. Well, it doesn't matter, but there were a few moments during my caesarean when my husband could see our sweet girl, and I still could not, that I anxiously needed to know what she looked like, did she have that tell tale snow white hair. At first, covered in birth, my husband thought her hair had a darker sandy appearance and there was a moment of what felt like relief. It would mean no eye surgeries, no dashing to the car to get out of the sun, worrying the bright lights were hurting her eyes, or diligently applying SPF 100 multiple times a day throughout the year. It would mean no questions about nystagmus, no strabismus, or other vision concerns, no social implications. Then there was the moment and any parent knows the one I mean. The first time you lay your eyes on the baby you grew for 9 months and it is the true definition of love at first sight. Her hair wasn't just white it quite literally looked like it had sparkles. Her eyes, a dark blue, were kept mostly closed sleeping like she just floated down from heaven into my arms. I knew then that she did have Albinism and it wasn't just okay; it was perfect. She was exactly the baby that we were meant to have brought into our lives so beautiful and sound that it created a fear in my heart that she was too perfect for this world.

After losing my older sister in 2008, I dreamed of the day I would have two little girls, close in age as we were, to watch grow together. Scotlyn adores Annabel and even when she refuses to give Kyle, or I kisses she always has a kiss for Anna. She insists on kissing her every night before bed and at times kisses her so feverishly I wonder if our little Bell can even breathe. I always catch myself saying, "I can't wait until.." they can play, and run, and laugh, but I am making a conscious effort to try and slow down and take in these precious newborn moments with our girls before we have any of the real stresses to deal with that I am sure all parents cope with, not just parents of kids with "disabilities". I already know Scotlyn will succeed at whatever she sets her mind to. At not even two, I know her low vision will not stop her and she amazes us with her intelligence every day. My hope now is that Annabel will also amaze me with the things she learns and sees and I am sure she will.

Annabel is now just over two months old she's already rolling from back to tummy and weighs 12.7lbs and is 22.5 inches long. She's growing so fast & continues to amaze us with her sweet gentle spirit.

Expectations

I try to not have too many expectations. With no expectations my mind and heart can't fail me, or let me down.

When Scottie's long awaited ophthalmologist appointment was approaching, the one we waited six months for, I let my guard down. I made a mental list of my hopes and hopes-nots. I told myself she could see well, she probably didn't need glasses yet, and maybe we would have to patch her eyes to help the alignment, but not surgery. I said it to my husband, to my friends, to myself. I didn't want her to have surgery so young. I set myself up.

It's a good thing we trust her Doctor because he said everything my heart feared. Scotlyn, at nine months old, is very, very near sighted. "Very bad, for a baby one even one", the doctor said. She got a prescription for glasses that very day, about -6 in each eye one a little different than the other, but almost the same and surgery "right away, in the next six months" for alignment. The good thing is that her eyes are almost the same strength, so when one focuses the other turns in, but they both do it, which I guess is good.

Glasses. "Finding frames would be the hard part", the doctor said and they were. We wanted Miraflex frames because they bend and are lightweight with no screws, or anything to minimize breakage. I called around until I found a place that carried them and went in very prepared knowing the exact which two frames were for her age group for her to try on and simply put, it was a nightmare.

The first person we dealt with was a ding bat, not listening to our needs, and trying to get my screaming terrified baby to try on every  damn frame they had. Eventually another woman took over who ended up being amazing and brought in two frames in the color we picked and it was very obvious which frame suited Scottie the best. Then, they tried to take measurements and couldn't because she would not stay still and because of her nystagmus.

The glasses took about two weeks to come in and we got the videotape ready only to have Scotlyn pull them off and cry. Then after her nap we tried again and it has been really quite amazing ever since. She will pull them off when she gets tired, but most of the time she leaves them on and she even tries to put them on herself. I think that the glasses do help slow her nystagmus and we have noticed small changes in her vision like not bending down as close to her tray to find her food. We also got grey transition lenses put in and that by far is the best feature. My little moon baby who used to bury her face in me every time we went outside now laughs outdoors and loves walks and playing in the yard. It. is. AMAZING.

We go back in three weeks to report on the glasses and schedule the surgery. I am sure it will be harder on us than her and I sure hope so.

Awareness

For the nine months I was pregnant I went to every doctors appointment and ultrasound anxiously awaiting to hear those three precious words, "everything looks fine."

I ate right, avoided anything that might not be good for the growing baby, and felt guilty when I wasn't exercising.

We sat in the ultrasound room at 20 weeks waiting to find out the gender of our baby, but more importantly that each organ, her precious beating heart, her growing brain were all working good and they were. We no longer had to fear heart troubles, or other fatal conditions. We were all set.

So when we learned about Scotlyn's diagnosis of Albinism at around three months old we were dumbfounded. How did this happen? What did this mean? Neither of us, or any of our family members had ever known someone with Albinism. 

We grow up hearing about autism, ADHD, we might know someone who knows someone who is deaf, or whose parent has a mental illness, but Albinism? Not in our family and not in the schools we went to, or the towns we grew up in. So, I get it. I didn't know either, but now I do and I want you to know too.

I recently received this message from a lady that stirred up a lot of thought conflict in my head:

"So many people have never seen an Albino up close and personal. It is human nature to stare or even be a bit rude. Not that it was necessarily intentional. I've known casually a few "mostly" albino people. Beautiful people. And I asked my questions as a teen. Asking helped me understand and I totally get it now. Beautiful photo, too! I'd love to see how beautiful she is now. Oh! there's an old movie titled "Powder" that involves an albino boy. It's a sci-fi leaning movie but many of the reactions to the boy are true to life."

Although the message was intended to be kind it showed how much is unknown about this condition. You wouldn't call someone with  cystic fibrosis, "The Cystic" or someone with downs syndrome "The Downs", so why would you call a person with Albinism "an Albino". Sure, you might refer to someone with diabetes as a diabetic, but that condition doesn't ostracize people. It doesn't cause endless comments on appearance and it doesn't carry with it an entourage of subhuman or supernatural beliefs. Furthermore, Albinism is a genetic condition, you either have it, or you don't. There is no such thing as "mostly" albino people. 

One of the problems with movies like Powder, or the Da Vinci Code is that they portray people with albinism as villains, or with super powers which only ostracizes them further. The belief that people with Albinism have superpowers fuels problems, in places like Africa, where people are being murdered for body parts because of a belief that people with Albinism hold some sort of magic.These are people. People that could be your neighbor, your friend, or your child who are being slaughtered with machetes over a belief that a genetic condition can cure ailments or disease. People with Albinism are just like you and I, except with less coloring and maybe worse vision. Awareness has to be the goal in order to debunk these portrayals in Hollywood movies and around the world so these people can grow up to feel beautiful and normal and not fear social stigmas and stereotypes or worse, fear for their lives.

So, I ask you. Be aware of your language, of your intentions, and of the global bigger picture because the only magic she has is the ability to light up a room.

Handpicked

Albinism, in Canada, affects about 1 in every 20,000-40,000 people.

The news of this statistic has impacted me in a lot of ways. It means that Scotlyn will most likely be the only person she knows in her schools growing up with this condition. It is what will make her not only visibly different, but her low vision will mean she will be unable to read social cues, witness stares, and possibly be subject to social exclusion, in the form of turned backs, which I have learned is a form of new bullying.

When we learned that with each pregnancy there is a 1 in 4 chance of each child having the same condition the first thing I planned to do was find out what we could do to avoid this. We learned that there are two options, amniocentesis after conception with a plan to terminate the pregnancy if the baby was affected and a costly 20,000 dollar option, in which they remove and test the eggs before implanting them IVF style, to ensure the baby doesn't have or carry the condition. Albinism is a recessive condition meaning each parent must carry the gene and the child gets one gene from each parent to be affected. Immediately, we dismissed the idea of terminating a pregnancy, as they call it. We told our family that we would, of course, be blessed to have another baby as sweet as Scotlyn. IVF, if affordable, seemed a promising and interesting thought. And then I had another thought, and if I'm being honest, it was more of an after thought after speaking to and reading about other families with children with Albinism and it was this:

By choosing to not have another baby like Scotlyn, what message does that send to her? Sure, the next baby, if they have Albinism, will too live a life a little harder than some, but what if the next baby also has Albinism and Scotlyn has a sibling to share her experiences with, so that she's not the only child in her school with glistening white hair and a seeing cane. Not to mention, Albinism is a visible condition and with that there are social implications, but what the child on the play ground who might tease or taunt Scotlyn won't realize is that they too someday might be met with a hidden genetic condition just as life altering like heart disease, or diabetes. That they, like Scotlyn, or any of us, aren't the perfection of health and will too be faced with difficulties in their own journey through this life.

Scotlyn might be the only kid in school with porcelain skin and hair the color of a honey snowcone, or she might not, and I think we will leave that up to DNA & a high power to decide because who I am to handpick a baby when Scotlyn was so perfectly handpicked just for us.

HPS & Self Advocacy

When we first learned that our baby girl had Albinism, Google, of course, was the first place I turned for answers, support, or anything else to normalize and navigate what otherwise felt like very uncharted territory. So, when one of the things that popped up was HPS: Hermansky Pudlak Syndrome my heart and my mind started racing.

Hermansky Pudlak Syndrome is a disorder characterized by Oculoctaneous Albinism and can cause problems with blood clotting which leads to easy bruising, as well as prolonged bleeding and can cause people to develop lung disease which causes scar tissue to form in the lungs and once this happens it can be fatal.

You know where I am going with this.

I needed to know that Scotlyn did not, unknowingly, have this and those answers would lie in genetic testing. A referral to genetics was put in, I did a phone interview outlining our family histories, and was told the wait would be over six months. So, imagine my surprise when less than two months later they called saying they had a cancellation and that we could come in the next day.

We were there.

After the usual reflex tests, eye exam, and explanation of the genetic process of how this condition came to be and what it means for our next pregnancies we were told that they were not going to do genetic testing on Scotlyn because based on the diagnosis from what doctors could see that there wasn't a need to confirm it with "expensive" testing.

I brought up HPS, which they were familiar with, and we were told that symptoms of this present early, that she appears healthy, and not to be concerned. I left feeling disheartened, but like most people decided I had to trust the doctors.

After coming forward with my initial post I was contacted by other parents, some within Canada, who said she should absolutely be tested and there is no way to know if she has HPS just by looking at her, so I did some research and they were right.

This is when I learned my first true hard lesson on Self Advocacy. I called the genetics nurse, who has been our liaison, who proceeded to tell me that HPS and Oculoctaneous Albinism are not related and there was no reason to test. I tried to correct her and explain that they are indeed connected and explain the importance of testing, but she wouldn't budge. I could hear it in her tone, I was that over bearing parent. After we hung up with a promise she would email the doctor and see what she says, but that they probably wouldn't get funding for the tests because they weren't necessary, I sent her a strongly worded email with resources proving my claim. Within minutes, I had an email back saying that she was wrong and that she was sorry and had emailed the doctor. This felt like a small victory. Someone heard me. 

We are now waiting to hear back from the genetics doctor in Red Deer, Alberta to see what she is willing to do for us, but in the mean time I have connected with a member of NOAH (National Organization for Albinism and Hypopigmentation) who has told me that is possible for testing by doing a simple blood test and she will help me get it done. We have also been invited to a BBQ for the families in Alberta living with Albinism which I am so excited to connect with everyone and learn from them!

The stars are all aligning.