Albinism: March 2012

Tuesday, March 20, 2012

WHAT IS ALBINISM?

MY VIDEO: (Click link below)
http://www.youtube.com/watch?v=_Ey-hNH4zEg&list=LL0F8Fq8lkeVGk_FgA-2Q7BA&feature=mh_lolz

Albinism is genetic condition most often characterized by a lack of pigment in a person’s eyes, hair, and skin. It is caused by inheriting a recessive gene from each parents, and occurs in approximately one in every 17,000 persons in the United States. While the condition is quite rare, one in seventy persons actually carries a recessive gene for a type of albinism. Two people who both have the recessive gene have a one in four chance that their child will have albinism. There are several different types of albinism, each with different characteristics.

Oculocutaneous Albinism (OCA)

Oculocutaneous albinism is the most common form of albinism and exists in many different forms OCA’s caused by a genetic mutation involving the enzyme tyrosinase which converts tyrosine into melanin. The first is referred to as OCA1a, and is sometimes called “complete albinism.” It is characterized by the body’s inability to change the amino acid tyrosine into melanin. People with OCA1a have no pigment, and have white hair, white skin and light blue, gray or violet eyes.

Oculocutaneous Albinism (OCA1b)

The second variation of OCA1b, in which people develop some level of tyrosinase activity and detectable amounts of pigment, and can even tan slightly. The amount of pigment varies in different people, but most doctors agree that people with OCA1b have some observable pigment by the age of 2. If your child shows no signs of any freckling or darkening of his hair or eyelashes by the age of 2, he most likely has OCA1a.

Oculocutaneous Albinism (OCA2)

This is the most common form of albinism, and results from a mutation of a completely different gene that governs another enzyme for melanin production. People with OCA2 generally have slightly more pigment, and may have better vision than people with OCA1. There is no definitive way to tell whether your child has OCA1b or OCA2 without a genetic test, but the more pigment your child has the better her vision, the more likely it is she has OCA2.

Ocular Albinism (OA)

The term “ocular albinism” describes an inherited condition that differs from OCA in that the eyes lack melanin pigment, but the skin and hair show normal or near-normal coloration. With ocular albinism, the color of the iris of the eye may vary from blue to green or even to brown, and sometimes darkens with age. However, the light shines back through the eye upon examination, since very little pigment is present in the retina. The lack of pigment in the eye causes the same kinds of vision problems associated with other forms of albinism. In most cases, ocular albinism is X-linked, meaning that the gene that causes it lies on the X chromosome. X-linked ocular albinism occurs almost exclusively in makes. It is passed from mothers who carry the gene to their sons.

GENETICS

A good way to learn about the genetics of albinism is to consult with a genetics counselor. Short of that, you need to think back to high school genetics to understand what happened to cause a child to be born with albinism. Keep in mind that, with the exception of ocular albinism, albinism occurs only when both parents carry an albinism gene and both parents pass it to their child.

This helps us understand that when two parents carry the same albinism gene and they have a baby, there is a 1/4 chance that the child will have albinism. They will have a 1/2 chance that the child will not have albinism but be a carrier and a 1/4 chance that the child will not have albinism and not be a carrier.

MYTHS AND STEREOTYPES

Now that you have a better understanding of what albinism is, we can dispel some of the myths associated with the condition. The most common one is that people with albinism have red eyes. They DO NOT! At times, their eyes will have a reddish tint to them if the light hits them in a certain way, but most people with albinism have light blue or gray eyes. Some have hazel or brown eyes, and a few have violet eyes. “Red eyes” myth is particularly disturbing because it is so pervasive. People have been known to say, “She can't have albinism because she doesn’t have red eyes.”

Another common misperception about albinism is that it always results in complete lack of pigment. There are many different types of albinism. Many people with albinism have some form of melanin and may tan slightly. People with albinism can have blonde hair, red hair or even light brown hair.

Other myths include that the belief that a child with albinism will be blind. Albinism causes “low vision”, or reduced vision acuity, but not blindness. Some people with albinism have vision that can be corrected to 20/200. People in this situation are called “legally blind” – an official designation that qualifies them for a variety of assistive services, but does not mean that are totally blind.

Less common, but equally untrue, are the myths that people with albinism are mentally impaired or have “special powers.” Some people with albinism have been asked if they glow in the dark, or can see in the dark. They entertainment industry have perpetuated these myths by portraying people with albinism in stereotypical roles. We hope that time and increased advocacy will courter this negative portrayal.

Personal experience:
I can not count how many times I have been told, "its impossible you can't have albinism because you do not have red eyes." Over the years I have had many people tell me some interesting things and I'm sure that they don't even know what they are even talking about.

IMPACT ON VISION

There is a wide range of visual acuity in people with albinism, and new parents often wonder where their child will end up on the vision spectrum. It is not possible to accurately predict during infancy what your child's vision will eventually be because vision development depends on many factors. In addition, there are a verity of adaptive devices that can help improve vision- and more are being developed all the time. The most important question will not be how much vision your child has, but how he uses the vision he does have.

People with albinism generally have what is called “low vision” which bilateral vision impairment that cannot be corrected by medical or therapeutic intervention, or by the use of specialized eye wear. Nonetheless, low vision can certainly be treated.

The most common problems associated with albinism are:

-Reduced Visual Acuity

-Light Sensitivity

-Nystagmus

Close Look at involuntary eye movement:
http://www.youtube.com/watch?v=oWTgu1paGDs

ALBINISM ACROSS THE GLOBE

UNDER THE SAME SUN:

People with albinism in Africa killed for body parts..

WARNING some graphic material

http://www.youtube.com/watch?v=9F6UpuJIFaY

Under the Same Sun (UTSS) Fund is a Canadian, Christian charity founded in 2008 by the current CEO, Peter Ash. UTSS is investing significantly within Tanzania to improve the lives of persons with albinism (PWA) by establishing a well staffed office and resource center there. "Our primary focus is on advocacy and education as well as assisting PWA to access external information, education bursaries, health care and other community supports available to assist with their genetic condition."

EDUCATION AND TESTING

Certain factors must be considered when testing a child with a visual impairment. Professionals who examine your child may not have experience with visual impairment and may not be familiar with low vision accommodations. It is important to provide the specialist with background information on albinism, and for you to advocate for appropriate accommodations for your child so the evaluation can be as valid as possible. Remember to consider the following environmental factors:

Is the material presented in a way that your child can access it? Can she get close enough to the image to see it?
Is the test room “albinism-friendly”? Is there glare coming in from outside windows? Are there harsh fluorescent lights and blinding white walls?
Does the testing surface promote good contrast? IF your baby will be tested on the floor, can a dark, solid color blanket be used to eliminate glare and help with contrast?

ADAPTIVE TECHNOLOGY

New technology has changed the way that people who are visually impaired access information and use their vision. Children with albinism now have access to a variety of adaptive devices and technologies that can enhance their vision and help them accomplish everyday tasks. Many low tech adaptations also offer inexpensive solutions that can make a major difference in your child’s life.

Your state office for the visually impaired may have a lending library where you can borrow different equipment to try out. If your state does not provide the technology you believe your child needs, contact NOAH or your local Lion’s Club for more information and assistance.

CLOSED CIRCUIT TELEVISION:

What is adaptive technology? It is any kind of device or aid that can accommodate, enhance or improve your child’s vision. Teaching your child to use adaptive technology can increase his independence and self-esteem by improving his access to information. Simply put, adaptive technology helps to level the playing field for your child. Examples include hand-held magnifiers, glare screens for computer monitors, closed-circuit television, and computer software that enlarges images on the screen or converts text into an audio format. Technology improves on a daily basis, so you and your child should be prepared to do further research on the latest innovations. A simple internet search of the term low vision assistive devices should provide you with the latest technological advances. Your vision teacher will also be able to help you learn more about what is available when your child is ready.

Personal experience: When I was in kindergarten I had a wonderful teacher who incorporated my adaptive technology with the whole class. EVERYONE used the C.C.-T.V. that was designated for my use. She made this piece of equipment part of the everyday classroom and helped me to not to be ashamed to use it.

SOCIALIZATION

All parents want their children to grow up feeling secure and having a healthy sense of self-esteem. Albinism will have an impact on your child’s social development in several key ways. Looking different often affects a child’s social acceptance by her peers and her own development of self-esteem. IN addition, low vision often contributes to difficulties in developing appropriate social behavior. These factors can make it more challenging to find friends and to develop a healthy attitude about oneself.

Children with visual impairments often need some extra help in developing certain social skills. At the same time, you may be wondering about how best to discuss albinism with your child and how to manage family dynamics. Helping your child learn how to develop friendships at an early age is very important. The social stigma associated with albinism is an unfortunate part of adolescence for some children, but if they have strong social skills, healthy self-esteem and an ability to make friends, they will overcome this hurdle.

“Children with positive self-esteem have an easier time handling conflicts and are generally optimistic. Children with low self-esteem have a more difficult time meeting challenges and finding solutions to problems”.

Personal experience:
I was raised with the same expectations as my siblings who do not have albinism. I was taught to be very independent and to do things for myself. I was given many opportunities and was included in many different peer groups. From these experiences I grew up having high self esteem that did not hinder my social experience because I knew who I was, and knew what kind of person I wanted to become.

USING THE "A" WORD

It is unlikely that a person will approach you in the grocery store and ask, “Does your child have albinism?” Most often, parents are asked if their child is an albino. For many people, the word “albino is considered a slur, and evokes feelings of anger and prejudice. However, while some people do use this term as an insult, most are just unfamiliar with the more acceptable phrase “person with albinism.”

Use of this term have been widely discussed in the NOAH community for years, and opinions vary about which is preferable. The term “person with albinism” emerged after the Americans with Disabilities Act (ADA) passed in 1990 and the country began to move toward person-centered terms. “People with disabilities” replaced disabled. The rationale behind this person-centered language is to put the individual ahead of the condition.

While most people prefer the term “person with albinism,” your child will certainly be called an albino – mostly out of benign ignorance, but occasionally as an insult. As parents, we must frame the issue so our children feel no shame when they hear the word albino. Most people who use the word albino are not trying to be rude or disrespectful, they simply don’t realize that the word can be hurtful to people with albinism. Pay particular attention to the situation in which the word is used. The context, setting, demeanor, and intonation of the people who use the term to label or describe your child will tell a lot about their motives and whether they are misinformed or rude.

As in many other situations related to albinism, the way you react to someone calling your child albino sets the tone for your child’s reaction too. Very young children are not going to understand what the word albino means, or that it can carry negative connotations. Your child will take her cues from you on how to respond when she hears the word.

Sometimes you may choose to ignore the term albino, or may even use it yourself when explaining albinism to others. If your child hears you use the term casually, she will attach no stigma to it, and will view its use by others as simple ignorance that can be ignored or corrected, as she sees fit. Your reaction will help your child shape hers.

A MOTHER'S JOURNEY

What is it like to be the mother of a child with albinism? Whitney was the third child born into a family with a mom, a dad, and 3 siblings. All this happened within a span of three years. Almost four years later, another sister would be added to the family. On the day that Whitney was born I was concerned that her brother and sister wouldn’t be accepting of their new little sister. consequently, I arranged for Whitney to give them each a present from her, a mickey mouse for brother and a minnie mouse for sister. They were thrilled and loved their new sister even though they were still babies themselves.

I chose the name Whitney because it means born of white waters. She was so fair with lots of hair that stood straight out. We had no idea that there would be any concerns about her development. The doctors sent us home without a word or diagnosis of the pending challenges that lie ahead. We just knew she had inherited her fairness from her Swedish ancestry. I was told at her first check up with the pediatrician that he suspected that she was blind and had albinism. He said I want my partner to come in and look at her too. I said albinism, "Isn't that those people that are really, really white and have red eyes?" He said, Mrs. Yorgason we need to send you for genetic testing to confirm and verify our diagnosis.

We were asked a million questions about who has sun tans in our family. My husband and I gave them hair samples. After a long wait for the results, the report stated that my hair follicles appeared normal and it was difficult to tell from my husband's since he was losing his hair. After that, we visited eye doctor after eye doctor with no one being able to offer any help except for a pair of glasses that might help her. Whitney would wear them to preschool and take them off as soon as she got home.

Being a school teacher, I knew that there was academic help available for children with special needs, and I sought after that help. As Whitney's mother and father, we were active participants in the classroom at school and the teacher's knew us by our first names and by our willingness to help them.

I was in denial for many years about Whitney's situation until we met up with the Jr. Blind Foundation in Los Angeles where for the first time I saw other children with albinism and had camping experiences with other families who had a blind child or one or two with albinism. This experience would always bring me to tears where I realized Whitney did indeed have albinism.

For several years, the family and siblings participated in the activities they provided until Whitney's father retired from the LAFD and we all moved to Idaho. The support that we had from the school district and the community was not as helpful as it had been in the Los Angeles area. The church was very accepting however of our family when we moved to Idaho, and we found a lot to do in primary, young women, Jr. High and High School. Whitney excelled in music and found lots of joy in that regard. Whitney always had good friends, and she was not excluded from having a fun and normal life. She has always loved life and all it has to offer. She gets excited easily and loves to smile and laugh and converse. She has brought great joy to her family and friends and especially to her her passion, teaching little children.

Her long awaited goal of graduating from college next month is within our sight, and all the hard work she has accomplished is because of Whitney's innate ability to accomplish anything she wants to do through perseverance and never giving up. If at graduation you hear a mother crying uncontrollably, I apologize in advance, "Ah, the pure joy of being Whitney's mother.!!!!!"

MOTHERS WITH CHILDREN WITH ALBINISM