Tuesday, September 29, 2015

Albinism: Our Journey Begins

Many of our friends and family do not know that our daughter Scotlyn has a rare genetic condition called Albinism. Most people will be more familiar with the term Albino and no, her eyes are not red.

When Scotlyn was born everyone remarked on her white hair, but with my husband and I both being so fair we didn't expect to have a brunette baby and didn't think much of it. What did concern me was her eyes because she kept them closed much of the time. No one, including the doctors, were concerned, so I let it go and we went home.

As weeks went by and Scotlyn got a bit older I noticed more concerns with her eyes including something called nystagmus where her eyes shift in a pendulum motion. The first google search told me what this was, but I dismissed it thinking it couldn't be this "nystagmus" and convinced myself she was still developing.

As weeks passed my suspicions that something still wasn't quite right grew and even though our family doctor didn't have any concerns, I booked an eye appointment for her and everything I had feared was confirmed. Scotlyn was unofficially diagnosed with Ocular Albinism causing nystagmus. Other words brought up from that appointment that hurled into my brain faster than I could digest were possible blindness, MRI, brain tumors, null point, never drive a car.

It was devastating. I had to adjust my expectations of the life I had dreamed for our baby girl. Now all I could think of was all the things she might not be able to do. It took a lonely, long, couple of weeks and even months to start to see the good. That she will do other things, things I hadn't imagined, and would begin to teach me more about life & love than I ever imagined.

After the initial eye appointment, we waited six weeks to see a Pediatric Ophthalmologist who brought us a little bit of peace. At first it was hard to not assume the worst, to google way too much information, and to become overwhelmed. We left this appointment with a  new calm. The Ophthalmologist was not going to do an MRI, he was not concerned with tumors, or blindness. He told us she was only three months old, not to worry, and that he suspected that Scotlyn has Oculocutaneous Albinism; a lack of melanin causing little to no pigment in the hair, skin, and eyes. The Ophthalmologist stressed the importance of sunglasses and told us to come back when she was 9 months old which will be this February,

What I did not know that I know now is that all people with Albinism have vision problems. First, the light is very bright for them, so being in normal to bright lights is very uncomfortable. Their eyesight also lacks detail and the movement of the eyes makes it difficult to process visual information.

We saw a Pediatrician who checked her over and put in a referral for genetic testing, so again we waited. The genetic appointment came and went without offering much as far as new information other than the advice to be diligent with hats, sunscreen, and sunglasses. They said they did not see a need to confirm the diagnosis with expensive testing because of the reports from all the other doctors. This left me a little disappointed because there are two forms of Albinism that have more serious implications and can be fatal and I wanted to rule those out 100% and get them out of my mind, but this didn't happen. I have recently contacted the genetics team again and had to strongly advocate for testing, so I will see what happens soon and write more on that topic later.

Scotlyn is now five months old and is the sweetest, silliest little baby. I do have harder days sometimes when the fifth person on the street comments on how fair she is, or how white her hair is. Sometimes I just want her to be seen for the "normal" baby that she is and not be seen as different. I worry about bullying when she gets older. I worry about what having poor eyesight will mean, but more than all of these things I am so grateful for her and to be her mom.

I came across this interview with another Canadian mom about her daughter with Albinism, who just published the book Beyond The Pale, and it brought tears to my eyes because everything she says I have thought or felt, it literally could be me talking in this interview. She articulates everything so well, please have a listen to learn more: http://thumbnails.cbc.ca/maven_legacy/thumbnails/14/737/nlonthego_20130320_18351_uploaded.mp3


  1. She is such a sweet little lady and you are such a strong woman and mother. Scottie will grow up and do such amazing and unimaginable things because she has all the love and support from you, Kyle, and all your friends and family! She will follow in your footsteps and be a strong woman :)

  2. All the best on the journey ahead. Kyle was one of my favourite players -- and favourite persons -- in covering the Varsity Reds hockey team. I know as a couple you have the strength and character to handle this. Prayers to you and little Scottie

  3. I'm so glad that CBC story was helpful for you! Hugs to you, Kyle, & Scottie! Can't wait for our next visit!

  4. She is one lucky little sweetheart to have a mama like you! You got this! 💜

  5. Hugs to you all. Well written and purveys the journey your are on. You and Kyle are strong and can face this with love, hope and happiness too. She is perfect in my eyes.