Category: Albinism


Mim started taking Karate in the spring.  A few weeks ago, he participated in his first tournament. He earned a competitors trophy (which is a nice way of saying he came in fourth out of four), but more importantly, he had fun and can’t WAIT to try it again next year.






Snow on the ski trails at the top of the mountain.

Mother Nature is having a rough time.  Two weeks ago it was Snowtober. This week it has been sunny and sixty degrees.  Still, ski season isn’t far off.

SEE!?  There’s snow on them thar hills ;). Ok so maybe we aren’t ready to hit the slopes quite yet, but one sure sign that ski season approachith is the annual Ski Gear Sale at Gunstock.  My neighbor Becky turned me on to this little gem of an event.  Perhaps little isn’t quite the right word.  It is HUGE and there as skis of all makes and models from down hill racing to cross country.

Skis, Skis and More Skis, Welcome to Gunstock, and Boots, Boots and Boots

We didn’t make it with the kids until lunchtime and still we found bargins. I found gently used boots for each kid for $30 a piece.  Skis for my kids (1 Intermediate skier and 1 beginner) were between $75 and $90 including bindings.  Ideally we’ll get at least two years on the skis for each child. That might be optimistic for Fish, but at least I can hand her gear down to Mim.  Even if we get one year, the total cost is less than what I usually pay to rent gear for the season.  Now, the difference is that the rentals are brand new, but experts confirmed that the equipment we bought was all in great shape and could probably be resold when the kids outgrow them.

Now if mother nature could get her act together! DO NOT PANIC my snow hating friends.  I’m not asking for a blizzard (yet), just temperatures cold enough to sustain snow making.  That will tide me over for now 🙂

Special thanks to Becky! I definitely needed skis this year and we weren’t sure we were going to make it to the sale because Mim had a Karate tournament.  She agreed to be my personal shopper and snagged me a great pair with bindings for just $99! Let’s hear it for awesome neighbors!!



Fish waiting to see the contact lens specialistFish is 10. Oops, she’s 11 and she’s really starting to express her individuality more consistently. She likes shrimp, will eat a sloppy joe if it is put in front of her and her lunches are eclectic selections from the food pyramid. I no longer purchase clothes without her present. Typically if I like it, she does not. She’s been asking for contacts for a while. I’ve been stalling.

Oh, I have my reasons and they are good ones. She looks so cute in her glasses, the glasses were working, she has bifocals with transition lenses, so it is really 3 pairs in one. Distance vision, reading glasses and sun glasses. Still, getting contacts that fit correctly and corrected my vision, changed my life in my mid 20’s. How could I deny her? Why should she have to wait?

My biggest concern was responsibility. Contact lenses require care and attention or there is risk of serious infection even permanent damage to her eyes. Then there is the issue of tearing. She has astigmatism like me, so contacts weren’t going to be cheap. I didn’t want to have to deal with replacing lenses multiple times per year. Still, she has demonstrated responsibility time and time again, so we asked her pediatric ophthalmologist if she thought Fish was ready for contacts. Dr. M. whole-heartedly gave her approval.

With contacts, the correction is closer to the eye, for with someone with nystagmus (an uncontrolled motion of the eyes) the weight of the lens slows the nystagmus, thus making it easier for the brain to process images and lessoning eye fatigue. When you wear contacts, you also regain your peripheral vision and that in itself is reason to wear contacts for a child who is learning to skateboard and INSISTS on hurling herself down the mountain on skis at top speeds. Her dad was on board, so th appointment was made.

3 images 1) doctor holding lens in her palm it is a little smaller than a dime 2) doctor putting lens in Fish's eye 3)20+ years ago when I was fitted for contacts, it was at a teaching hospital in Boston and it seemed to take forever. There was the appointment to measure my eyes, then the lenses had to be ordered and that took 2-3 weeks because they had to be made. Then there was the return visit for the initial fitting. Then the trial period while my eyes got used to them. I had spend two weeks adding a little more time each day until I could wear them for 8 hours.

8 photos of varying sizes of Fish learning and succeeding at putting her contacts in

Yeah, things have changed. The appointment to fit her was 15 minutes max and I didn’t even feel rushed, it just was that easy. She was fitted for 30 day lenses. That means she opens a new pair every 30 days, thus addressing my concerns about ripping. She was advised to wear hers 2 hours longer each successive day and could be wearing them up to 12 hours in as little as six days.

After the fitting, Fish met with a contact lens technician for training on caring for the lenses and she learned how to put them in and take them out of herself.

The contacts solved the distance vision issue, now we had to replace the other two pairs of glasses. Off to Target, for sunglasses and reading glasses.

3 images - 3 different pairs of sunglasses.  She ultimately picked the pair on the far right.

If I’m being honest, the reason I dragged my feet was that to me, she needed to be able to put the lenses in by herself and that was a giant step forward in responsibility and that meant she was growing up and . . . Oh! I’m not ready for that.

Still, I have to be. Contacts will help her see better and how can I stand in the way of that? The verdict so far? She loves them and she’s doing a wonderful job taking care of them. This morning, she even put both of them in all by herself on the first try.

My Daughter in the backseat with her new sunglasses and a hot chocolate from Starbucks.
Oh, my who is this young woman I see?

FYI – Hermansky-Pudlak Syndrome

Hermansky-Pudlak Syndrome (HPS) is a rare genetic disorder that affects people from all races and nationalities. The HPS Network is a volunteer, non-profit organization that provides information and support to people with HPS and the medical professionals who treat them. The purpose of this post to help The HPS Network spread the word. Make sure you read all the way to the bottom for a little giveaway.

Imagine you have a beautiful baby. You are starting to suspect that she doesn’t see quite as well as she should. Like most babies learning to move through the world, she’s uncoordinated, but she also appears to have difficulty focusing on people or objects at distance. Her depth perception is off and she frequently bumps into things, perhaps more than the “average” child and she bruises easily.

When you take her for a check up, the doctor notices a bruise on her arm that looks like the imprint of your fingers. You explain she was about to go headlong down a set of stairs and you grabbed her arm to catch her. The next thing you know, Child Protective Services is at your door accusing you of abusing your daughter.

Sounds like an episode of Law and Order no? Sadly, it can be a reality for families of children with Hermansky Pudlak Syndrome (HPS). According to the HPS Network website, HPS is “is a genetic metabolic disorder which causes albinism, visual impairment, and a platelet dysfunction with prolonged bleeding.” People with certain types of HPS, also accumulate a waxy substance in their bowels, and/or their lungs or kidneys. The manifestation of HPS can be mild to debilitating.

Despite my work with albinism advocacy, I had never heard of HPS until my late teens when I met Donna Appell and her beautiful daughter Ashley. Donna is a force to be reckoned with. She founded the HPS Network in 1992 to educate those affected with the condition and the medical community as well as promoting research to improve treatments. She’ll kill me for even mentioning her here because she doesn’t want recognition, she’s too busy spreading the word about HPS, but the advances that have been made in identifying HPS patients, and improving treatments are due in no small part to Donna’s efforts. These days, she has a board of directors and a small but merry band of volunteers to support the efforts of the HPS Network. One of those volunteers is Heather Kirkwood.  Aside from being skilled in all things communication and outreach, Heather is also a talented artist and sells some of her works to support the efforts of the HPS Network.

People with HPS albinism all suffer from problems with their blood clotting. It can be minor as in they just bleed a little longer than most, or it can be life altering as in minor dental work can require a hospital stay. I think it is important to note that despite these challenges, people with HPS can lead “normal” lives with simple precautions and connections to medical professionals who understand their special needs.

We take our good health for granted. The minor scrapes and cuts are easily forgotten, but for people with HPS, they can be life threatening. When I was twelve years old, I was out riding my bike with friends when another “friend” jumped in front me. I swerved to avoid her, but lost control of the bike and ended up slamming my head on the bumper of a car parked on the side of the road (these were the days pre-helemet). I don’t have HPS, so it only took five stitches to get me on the mend and back on my bike. How about you? What was your worst or most memorable childhood injury?

Spring Scene by Heather Kirkwood to benefit the HPS Network

The HPS Network has produced as set of notecards featuring one of Heather’s paintings. I have a set of 10 notecards and envelopes to give away. To enter, just leave a comment telling me about your most memorable childhood accident. I will pick a random winner on Friday (12/10).

This card benefits the HPS Network

For more information about HPS, or the HPS Network, visit their web site. Want your own notecards? Visit the store at the HPS Network website and order yours today!

School Picture Day

Today is school picture day.  When I was a kid my mother took great pains to insure I was well dressed.  Even more so on school picture day.

Pictures of me pre school through first grade
Preschool through second grade

There are rare occasions when having a mother who saves EVERYTHING.  This is not one of them. I distinctly remember the kindergarten picture (second from left).  She was mad that I put my lips over my teeth, but years later she’d tell it as a funny story.

Pictures of me third through sixth grade
Third through sixth grade

Who let me leave my glasses on? Gotta love aviator frames! I remember being very proud of myself in fourth grade (second from the left).  I brought lip gloss and right before the picture, I decided to feather my bangs to the left.  I remember telling my mother of my success with a big grin.  She was not happy, but when the pictures came back, she acknowledged, I had done well. Fifth grade (second from right) needed a do over because when we got the photos back, it looked like I was winking (damn light sensitivity). Gotta love the puca shells in sixth grade (far right).

Photos of me in grades seven eight and nine.
Grades seven, eight and nine.

I HATED middle school and these first two photos show why.  I was a complete and total dork.  I still am, the difference is that now, I flaunt my dorkiness, then I denied it. By the time high school rolled around, I was starting to gain some footing.

My tenth grade photoNext to fourth grade, this is probably my favorite school picture.  By tenth grade, I had a circle of friends and felt like I belonged somewhere.  I don’t know why, but I wasn’t able to find a photo from my junior year.  I don’t even remember a photo being taken, yet, there must be one.  That’s ok, the drama just sets the stage for *drum roll* SENIOR PORTRAITS.

Dun dun dun!

Cap and Gown, holding a Rose and black drape
Senior Portraits

It would be ten years before I found out that neutral brown tones did more to accent my eyes than blue tones.

Let me be clear that I am poking fun at myself more than the photographers.  I don’t envy them their job. Also, people with albinism are hard to photograph between the nystagmus (wiggly eyes) and photophobia (sensitivity to bright light and glare).