Sawyer and I had an adventure starting out with a plane ride from Burlington to Atlanta, GA.  Sawyer loved the plane ride.  (Sawyer said the planes were one of his favorite things.)  When we landed in Newark, NJ, I had asked the flight attendant if Sawyer could see the cockpit.  The pilot let him sit down and press many test buttons and push up and down on the "steering wheel" lever.  He loved it.

From the airport in Atlanta, Sawyer and I rode on the "Marta", the public train service.  I had actually noticed a young woman and man, who had albinism getting their tokens.  The young woman, Brandi was very stressed out and didn't know how many tokens she needed, etc.  I let her know she only needed one token now and asked if she and her friend wanted to tag along with Sawyer and me to the hotel.  I think they were both relieved to be traveling with someone who wasn’t vision impaired.  It was on the train ride I realized that African American persons with albinism have vision problems and nystagmus just like Sawyer.  (I had always thought they had better vision, because they had more pigment.)  Sawyer and I chatted with Philip and Brandi.  They are very bright kids in college; in fact Philip has even put together a camp for the visually impaired.

We made it to our stop and the hotel's bus picked us up.  Sawyer and I were standing up hanging on, which gave him a great view of all the riders.  The bus was full of parents, children, and people with albinism.  Sawyer said, "Mom look", and wanted me to see the two cute little boys with white hair.  After Sawyer said that, he took off his hat...he wanted to show everyone he had albinism as well.  This made it all worth it!!  We arrived at the Crowne Plaza Hotel and noticed the lobby was crawling with people with albinism.  We made it to the registration line and Sawyer once again took off his hat.  He wanted everyone to see that he was part of this group and I'm sure he felt accepted!  It sent me into tears.  Once we got to our room, I asked Sawyer if he took his hat off so that people could see he had albinism as well.  Very shyly and smiling, he said "No."  I told him, "It was a wonderful thing that you took your hat off, to show everyone.  You should be proud!"  He just smiled.  I wasn’t sure what we would get out of this conference, but I think Sawyer got a lot just from the first two hours by feeling accepted and finally, most importantly, not different! 

We were able to meet a lot of new people, many that I have already sent pictures to.  Sawyer was very happy he met several new friends with albinism.  There were approximately 55 five-to-eight-year-olds at the kid's konference.  Sawyer saw more of Atlanta than I did, as he went on two field trips.  They visited The Imagine It Children's Museum (where he went through a maze, he loves mazes!) and The Center for Puppetry Arts, where the children saw a play.

Friday morning was the official start of the conference. Sawyer went off to his kid's konference and I went off to mine.  The group first heard from Richard King, a Doctor that specializes in albinism.  Here are some facts I jotted down:

• Albinism is autosomal recessive, and both parents are carriers of the gene.  It can happen to boy or girl with a one in four chance.
• It affects the Tyrosinase gene and the Tyrosinase enzyme (melanocyte, that makes melanine).
• 1/40,000 people in America have albinism, but 1/100 people are carriers of the gene.
• There are 150 different mutations of the gene that have been found.
• There are many different types of albinism.  OCA1A have no functioning enzymes (that's what Sawyer has, I'm sure).  OCA1B has some function and can develop some pigment (so they can have white hair but brown eyelashes or brown beard).   There is a huge range for OCA1B, so that some people look of normal color. 
• Dr. King has only identified 85% of mutations that cause OCA1.  Not all can be identified with current lab methods.
• There shouldn't be any neurological problems with people with albinism.
• Hearing isn't normally affected by albinism.
• Only one known child that has autism in addition to albinism.
• Cataracts possibly develop earlier in people with albinism.

Another Doctor spoke, Murray Brilliant, mhb@peds.arizona.edu.  He spoke of the eye with albinism and how much it differs from a pigmented person.  They are conducting testing on mice called, "Induction of DNA Repair" that will restore pigment in the eyes.  This could take up to five years to test before it is marketable.  The group is also testing on melanocyte protein, and why albinism occurs and what therapy they could give. 

Dr. Brilliant spoke of HPS, Hermansky-Pudlak Syndrome.  This is a condition along with albinism where the people have absent platelet dense bodies and have massive bleeding, bruising and usually die of lung disease later in life.  (I'm happy Sawyer doesn't have that!)  This is a very rare condition where there are only around 500 known cases with the disease.  450 of them live in Puerto Rico, 45 others are found in the United States and other places.

Dr. Richard Lewis spoke of Ocular Albinism, which is a lack of pigment in the eyes. They still have pigment everywhere else.  This is passed from mothers to sons.

Continuing on Saturday, we learned more about the eye.  The reason why persons with albinism can't see well is due to the foveal pit is not formed properly.  Normal-seeing people usually have trouble seeing in the front of the eye, (the lens, etc.) where people with albinism have difficulty with the back of the eye.   Matthew, a young man with albinism gave a wonderful slide presentation of what a person sees with 20/20 vision compared to a person seeing at 20/100.   There is a lack of clarity not blurriness.  This funny, young fella Matthew also called us "normal pigmented people" as "pigmentos"!!  He had the whole auditorium hysterical over that one!  Some other things he mentioned was how persons with albinism see were:

• They don't have stereoptis.  One way to see that for a "pigmento" is to cover one eye and walk around or look around and see how difficult it is. 
• They can't see the detail in letters:     E, F, O, C, G. i , l
  
• They can't see people in a distance, going into a crowded room and finding someone would be very difficult.  (I know this of Sawyer.)
• Reading a chalkboard, even sitting in the front row can be very difficult.
• Catching a baseball with the lack of steroptis is very difficult.  (Most people stick to individualized sports, like track, etc.)

• Most Fathers in South Africa abandon the family if there is a baby born with albinism, or the parents might kill the baby.  Many think that the baby is a curse. 
• <hey have to teach the children to be very assertive otherwise they will never get jobs.
• The rate of albinism in South Africa is closer to 1/4000 or even 1/2000 in some tribes (compared to our 1/40,000) due to cousins marrying cousins.
• Skin cancer is very high in South Africa for persons with albinism.  Most die from skin cancer.
• One mother adopted children from China.  She found that the babies with albinism were malnourished and not cared for. 

Positive Exposure is something else that I found so interesting.  The following was taken from the web site: positiveexposure.org.  (Please visit this site, it is wonderful!)  Driven by former fashion photographer Rick Guidotti and Diane McLean, MD, PhD, MPH, POSITIVE EXPOSURE is a not-for-profit, 501(c)(3) organization whose innovative programs challenge the stigma associated with difference and celebrates the richness of genetic variation with positive images and powerful life stories.
Utilizing photography and video interviews, POSITIVE EXPOSURE investigates the social and psychological experiences of people living with genetic, physical and mental health conditions of all ages and ethnocultural heritages.
I was able to meet Rick, the photographer, view the video, and see a lot of the photographs he had taken around the world.  His video was very moving as he showed kids from other countries that there are other people like them and that they are beautiful.  It is fabulous how he is educating them, bringing hats, sunscreen and long sleeved clothing, not to mention spreading the word about albinism.
I was able to share our experiences with other parents and hear other tremendous stories of other kids and their accomplishments.  I found out that most doctors in the United States still have little knowledge about albinism and almost all parents are told that their children will be blind and retarded.  Parents need to be strong advocates for their kids and to try to educate as many people as possible. 

This was the 10th National Conference and the largest!  There were close to 700 people in attendance.  I am very glad Sawyer and I were able to attend.  NOAH holds these conferences every two years.  We will have to make sure to go to the next one!  Please visit albinism.org to find out more about albinism.  The amazing thing is NOAH is run by volunteers.

I would like to thank Parent to Parent and the Vermont Developmental Disabilities Council for their generous support. Without you this trip wouldn’t have happened! 
Thanks again!
Hilary Ostrout
Hilary, Richard and Sawyer Ostrout live in Barre.

To apply or make a gift to Parent to Parent of Vermont's Conference Fund, please contact our office! 

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