NOAH AOC

Hello Everyone,

My name is Liz and my daughter, Anna is 12 weeks old.  Yesterday she was diagnosed with Ocular Albinism.  We took her to a speicalist in Boston MA.   My aunt had this condition and no one else in the family has this.  Im shocked and very diappointed and somewhat ashamed.  I feel that all these emotions are normal right now.  Im so worried about her vision because she has nystagmus and doenst focus on her mommy or daddy's faces (which breaks our hearts).   --does this get better or worse? Will she focus ever??

So now I find myself searching for support and advice on what is to come.  Does my daguhter have to wear "coke bottles" or has medicine come so far and those arent needed anymore?  We are so confused and in the dark about all of this.    Also, is there something we should be doing to help Anna wtht this condition right now???  Any input will help, thank you!

-Liz 

Hi, congrats on the baby girl and welcome to NOAH!!!

I remember when we were first told he had "ocular albinism". We were heart broken and scard. Then we did genetic testing because Andy has Blond hair and blue eyes, not that common in out family. Come to find our he has OCA1b. Andy finally looked at us when he was 4 months old. As for vision every kid is different. One child on here is as good as 20/25, other kids such as mine is 20/400. But, the numbers are not important. Their functional vision is. Andy has great functional vision. No one thinks he has albinism or even has a vision problem. What I did as soon as I found out what Andy had, I got him Early Intervertion (EI). Also, depending on your income she may qualify for SSI. Use all resources!!! There is also specil medicaid the child have as well. Call your Commission for the blind and your county for EI services. Most eye doctors just focus on ocular albinism and not mention cutanious (SP?) What color hair does she have? You are in great hands here!!! Everyone is so nice!! Please get EI ASAP!!!

(sorry about spelling and grammar, kids are acting up, lol)

Hi Liz,

My name is Lee and I have oculocutaneous albinism (skin, hair and eyes).  Your emotions are normal right now.  

Despite the nystagmus, she can  see you and in her own way is focusing.  As she grows, she will learn to control the nystagmus.  It is not something that is taught, it is something that happens naturally.

 It is too early to really tell what her long term visual acuity will be, but I wear contacts and have for almost 20 years.  The good news is that there are many aids that can help your beautiful daughter lead a happy and productive life. My husband (he also has albinism) both own our own successful businesses, we own a home and we both drive.

 As for what you can be doing now, you should look at enrolling Anna in early intervention services.  EI, will provide your family with access to professionals who's job is to montior your daughter's development and offer you suggestions to encourage her growth.  They can also offer you support and information as well.  Ask your pediatrician for a referral to your local EI agency.

I lived in Boston for almost 17 years and moved to central New Hampshire with my family (husband and 2 kids who also have albinism) 5 years ago. Please contact me at laughlin AT fearlessevents.com.  I'd be happy to share some local resources with you.

 One last thing, albinism presents its challenges, you can find your fair share of horror stories discussed on these boards.  However, I have come to know many delightful successful resiliant people with albinism through NOAH.  Your daughter's perception of herself and her abilities start with your perception of her.  By all means grieve this.  It is not what you expected.  Also know, that she is still the beautiful little girl you gave birth to.   There are things she won't be able to do (fly a plane), but there are many more things she can do if you let her find her own limits.

 I look forward to talking with you.

 Best, 

Lee 

Welcome Liz!  We are glad you found NOAH.  Anna will be just fine, so hang in there.  There is absolutely no reason to be ashamed.  You and your husband passed on a gene mutation that you had no physical control over.  It caused a condition that will become easier to deal with as you learn more and time passes.  My son Zachary was diagnosed with albinism when he was about 7-8 weeks old.  He is 4 1/2 now going on 21.  He has oculocutaneous albinism that affects his skin, hair and eyes.  Is the specialist sure Anna only has ocular albinism?  It's actually pretty rare for girls to have just ocular albinism because it's usually passed on from mother to son.

YES, Anna most definitely will learn to focus as she gets older!  Zachary first focused on my face around 3-4 months of age one day when I picked him up from day care, and I almost cried.  The nystagmus will always be present, but may decrease (dampen) over time so that it becomes less noticeable.

NO, she will not have to wear coke bottle glasses (been there, done that when I was a child!).  She may have to wear glasses if she is nearsighted, farsighted or has astigmatism, but could transition to contacts as she gets older if everyone thinks it's a good idea.

Take Jill's advice and contact Early Intervention for your state.  This is a federal program that mandates that states offer services for kids age birth to 3 who may have developmental delays due to whatever condition they have, and the services are free.  Anna may or may not need services like physical therapy, occupational therapy, speech, etc., but Early Intervention will at least monitor her to help you know if she needs these services.  Depending on where you are, there may be a teacher of the visually impaired that can start working with you now. 

Also, contact Lori Aubrey at info@albinism.org.  She can hook you up with "First Responder" families near you for you to contact for questions, reassurance, etc.  I did this when Zach was diagnosed and I can't tell you how much it helped me to talk to another mother on the phone who had been where I was.  Keep your head up and feel free to ask any questions you have!

Liz,

Welcome to NOAH and congrats on your baby.  You've already gotten such wonderful advice from everyone!  I can't think of anything else that needs to be said!  I and everyone else here has been in your place and it only gets better from here!  Ryker, my son with OCA, 21 mos., is doing great.  We were at his brother's T-ball practice earlier today and I was explaining to other moms I knew about albinism and they just couldn't believe he has  a visual impairment cuz of the way he was moving and climbing on everything!  And his last acuity numbers were 20/260!  Don't let anyone tell you that your daughter won't be able to do something cuz she'll probably prove them wrong!

Good luck with everything and don't be a stranger!

Kelli

Oh everyone, you all made me cry after reading all the great things you said and suggested. The answer your questions, Anna has light blond hair and blue eyes.  She is diagnosed with only Ocular Albinsim. My aunt had it as well and I know the odds of having a female with OA is very slim!  I called the Perkins School for the Blind in Watertown MA, and they will be sending out an early intervention teacher to start with Anna in the next 2-3 weeks.  They will follow her until she is 3.  I also am going to call our local intervention office as well in case she will need OT,PT, or ST.  Now, one more question--did your children have a hard time walking at first?  I am worried about that too!

p.s. How do I post a picture on here??

-Liz

Hi Liz, and welcome!!

I am an adult with albinism, mom of three daughters and two grandsons, none of whom have albinism.  I have a younger brother who also has albinism.  We have oculocutaneous albinism, white hair, no pigment in the skin, blue eyes.  We have both done everything we have ever wanted to, except neither of us can drive.  Driving for your daughter is far in the future, and that depends on many things--the laws in your state and her visual acuity.  Also, technology is constantly improving, so I wouldn't even think too much about that yet!

 As for walking.  There are some whose children walked late and some who walked early.  I reached all of my milestones ahead of schedule according to my mom, with no early intervention, etc.  I was diagnosed at birth by our family doctor in 1959.  While low vision can cause some slight delays, it is not a given.  Just don't let the specialists tell you your child is delayed when they don't walk by a year--that is not true as many children with normal vision don't walk until well after a year.  Neither of my grandsons walked until 13 months.  Remember, there is a range for what is considered normal for reaching every milestone, and not every child reaches everyone early, on time, or late.  Trust yourself, you will know if something isn't right.  Moms do!

How you react to your child will have a lasting effect on her.  I'm sure it is a shock for you, and most describe the process of dealing with it as similar to grieving.  But please, do not be ashamed of your beautiful baby!!  You did nothing worng, and are doing everything right!  Get close to her when you talk and sing to her, use brightly colored toys and those with lots of contrast like black, white and red.  They recoimmend these for all babies.  She can see you, just not in the way most people are used to.  Get close to her, it really helps!

I hope you can get a picture posted soon--I need to change mine in my profile, I have a better hairdo now!  I just like my opic because it is a five generation shot from my grandma's 90th birthday1

Joni

Andy walked at 12 months and is on track with everything so far. He is 17 months old.  He was not the first 9 months though. He rolled over at 7 months I think he crawled at 9 months. What really work was a his TVI (teacher of the visually impaired) she comes once a week. She sewed this really nice black and yellow material together. It was half black and half yellow. She put yellow toys on the black side and red toys on the yellow side. Most babies with albinism need contrast. What I was told very early was get  a flashlight and go into a dark room. Have your daughter "track" or follow it.

 It really stinks in the begining when you know nothing about albinism. You read all this bad stuff and think "oh my God, will she drive". I did not sleep for nearly 5 months. I worried so much about Andy, it brought me down. But, the people here brought me back up. All I did was read positive things about the older kids here. Kids in college, playing sports and doing most things. It is hard now and it will be hard the next few months. but, soon you will be calming new parents down when they find out!!

Listen to Britt and call Lori, she is wonderful!!!

Hello

Welcome to NOAH!!! This is the best place to find help and advice. My daughter Bethany has OA. She also has the nystagmus. We found out when she was three months old. now Bethany is 10 1/2 months old. she is doing great. We had all those feelings you are feeling now. It's alright to be upset and scared and not sure what to do, but trust me when I say everything will be fine.

When you had your baby girl she is looking at you. I know it may not seem like she is but she is. They have their own way of looking at us. Bethany nystagmus has slowed down a lot. It really acts up when she is tried or upset. Other then that it isn't bad. Bethany does have glasses and they are not coke bottle glasses they are small thin pink frames. She looks really cute on her. Bethany does really well with them. they have helped her see better.

Please doen't feel ashamed she is your angel. I know how you feel I was ashamed about it too, but now I know and realize that there are worse things out in the world.

I hope everything has helped you and your husband. Oh and congrats on the beautiful little girl.

Dorothea

 Liz-

Congratulations on your baby girl! I was in the same place you are this time last year.  My Cassidy is 15 months old and she has been diagnosed with OA as well.  She has sandy blonde  hair and blue eyes and she is a doll! We went to the St.  Louis zoo yesterday and she walked around and looked at the animals like any other toddler. Her nystagmus has slowed as well but it is still noticeable.  All of your feelings are completely normal.  It is hard to deal with the initial shock but you'll be fine.  Of all the things to have wrong, there are worse! Just love your daughter (I know you do) and enjoy her.  She'll amaze you. Cassidy has us!

Amy C. 

Congratulations on your daughter!  I know all the emotions in the beginning can be mixed.  Both of my kids have albinism my son has 20/25 and my daughters has been said to have 20/375 and 20/275.  My daughter just had surgery with dr. hertle in pittsburgh for her nystagmus and is seeing much better and straight ahead.  She can see us especially when she first wakes up in the morning and we just snuggle and stare at each other.  I love those moments they are so precious.  My kids loved the black, red, and white soft toys at that age.  Highly contrasting colors.    Everyone on this board is great, it has been a blessing to me, from the first hand advice to parent prospectives.  Your daughter can have a beautiful life with albinism. 

Oh, Liz!  What a sweet picture!  I have had baby fever lately for some reason.... who knows, maybe I'll have another one someday!

Anyway, just wanted to say that Zachary walked on his first birthday.  Same day he got tubes in his ears for recurrent ear infections.  My neighbor's baby who is a normal "pigmento" is about 9 months old and HUGE for his age is already pulling up and took a step yesterday, and I was shocked.  Just goes to show that all kids are different. 

Liz,

First of  all it's very extremely rare for a female to have  Ocular Albinism because usually it's x-linked which means that a girl can't have it. I know a little about this because I'm a female and the thought was that I had Ocular Albinism. But, I read some information about the different types of Albinism about a month or so ago and form that I glined that I either have OCA 1B or OCA2. I also just read some more information about Albinism Today from the link of the University of Minnesota that someone gave. And, I know believe more than anything that I have OCA 1B.Keep in mind I was diagnosed in the early to mid 1980's . So a lot was changed since then as far as diagnosis. Yes, your daughter will find what is called her null point sonner or later which will slow down the movement of her Nystagmus. It will all depend on what her vision will be and also you will not know really until she can start telling better what she is seeing. Unfortunately, Albinism is so rare that is really no medicines to correct it. Albinism also has to do with the development of the wiring between the eyes and the brain. The reason for the glasses would be to correct any refective errors that your daughter would have and the refrective errors that commonly occur with Albinism are Near-sightedness Fear-sightedness and Astigmatmus.  The more you learn the more you can educate the eye doctors and trust me the love the oppoortunity to learn about a condition like Albimism that is extremely rare. I feel impoowered more this last time when I went to the Opthalmalogist in April. He very much appreciated be be educated on the topic of Albinism. 

Liz,

 I just want to add to the many positive messages -- everything will turn out great.  My son is 13 and has OCA and had severe nystagmus.  He is a straight-A student, wears contacts, his nystagmus has decreased significantly, and his visual acuity has improved to 20/60 with corrective lenses.  We are starting to deal with some of the social issues as he doesn't tan.  My wife and I went through the same feelings when he was born -- and it took a long time for us to find a PO.  We did the early intervention and adopted an attitude that we would treat him just like any other child.  He plays sports and you would never know he has a visual issue if you saw him interact with other kids. fyi -- our two younger daughters do not have albinism.

 Let me know if I can help with any advice.  I just told Alex last night how much I love him and that, while I know he deals with issues other kids don't have to face, that God gave him the strength and ability to be a better person!

Bill

I just wanted to say welcome.

My daughter has OCA2 Albinisim. HEr issues are alot of non-refractive issues, such as little Depth Perception. This did REALLY affect her walking, running, stair climbing and jumping to the point that they recommended a wheelchair b/c they thought she was so severely delayed.

When the Optho dx'd her with little depth perception (and some other issues, like low visual aquity and form perception) we really worked hard on showing her she could lift her foot off the floor. From then she took off.