NOAH AOC

My son was born May 2nd 2008 and was dx with Albinism.  I am trying to understand and process everything but it seems so confusing.  I have all ready had him to a pediatric opthamologist who was not so helpful.  He couldn't really tell us much b/c our son is so young.  But he didn't give us very much information to go on either.  He didn't reschedule my son until he's 2 and 1/2 which seems like a long time to me when some of the web sites say that early intervention is a must.

could somebody please tell me if this is reaonble.

also, are they are any miracles out there?  he just put in bluntly and said that our son would never drive that he had never had an albino patient to drive....

 Also, the pediatrician states that albinos are slower at meeting their developmental milestones.  Any experiences with that one?

 I am ashamed to admit that I am a registered nurse and know nothing about Albinism.  Until the birth of my son, I have never met an Albino patient.

Also, the Nystagmus.  Has anybody had the muscle surgery performed on their children?? Any luck??

 Thanks to anybody that takes the time to answer me.

Welcome

I think if you go back to the home page, there you can find all sorts of information - it explains the ranges of vision, etc....

Milestones vary from what I understand....  I have a 10m old little boy who basically has reached his milestones for now.. he started some of the tracking a little later and didn't sit at first but now is crawling at a speed where I have to jog to catch him, pulling himself up at the couch and creeping along.  We did get early intervention involved around 6 months but the physical therapist is now on stand by and the vision therapist has us looking at 1 yr milestones. 

 Driving really will depend on what vision degree, what state you live in will probably be a factor and I figure with technology the way it is going, we'll all have "kit" cars so all you'll have to do is tell the car where you want to go.... :)  -that's my optimistic miracle....

The Pediatric Opthalmologist (PO) we are seeing saw him at 4.5 months, then at around 7 m, and we go back when he is about 11m.  He had really far pendulum nystagmus,the transilumination,  plus he's got "bad" astigmatism (which is not necessarily associated w/albinism), so that could be an additional factor in our case for frequency of visits.  Now at 10 m you can hardly notice the nystagmus unless he's tired... again, from what I've read here, most times if surgery is done it's not until 2.5 yrs or later.

We went for a second opinion - don't be afraid - alot of parents here have seem more that one doctor.

Also, I'm a vet tech and had worked with albino rabbits/rats and didn't know the term albinism till the PO used it at his 1st eye exam at 4.5m.  I've also learned of a colleage of one of the vets I work with who went to vet school with someone who has albinism and he now owns his own practise from what I understand...

Congratulations and Happy Mothers Day,

-paula

First of all Congratulations on your little! I hope you are getting some sleep.

The agency for early intervention are different by state I believe but I would find out who that is and ask them when they should start seeing your son. To make sure he stays on track.  My daughters nystagmus showed up by 6 weeks.  Some people with albinism do drive and others cannot.   I would find a different doctor for another opinion. I would tell them he has been seen once for albinism, his age, and when they would want to see him so you do not get the same run around. My daughter has been seen many times and she is almost 3.  There is a lot of info on here about Dr. Hertle and a tenotomy surgery he does.  He studies nystagmus and is with Children's hospital in Pittsburgh.  Lexie just had her surgery a month ago.  Some people are for surgery and other are not.  Lexie hit all of her milestones so far.  She did have a hard time with walking on the stairs until her surgery.  Her dr. said to help her explore beyond where she can see.  Lexie sees well sometimes and other like with stress, strange enviroment or people, tired, or lots of commotion she has a hard time and I carry her more.  Her null point started at about 18 month(a eye position where the eye movement slows down) You can see it in the picture I have of her.  This is part of the reason why we decided on surgery for her since she could not really see to the right.  This is a link to the International Albinism Center at the University of Minnesota-gives you a more detailed look at albinism which may be a good starting point. 

http://albinism.med.umn.edu/facts.htm

These are 3 recent threads about the surgery 

http://community.albinism.org/forums/p/7036/34991.aspx#34991

http://community.albinism.org/forums/p/6966/33679.aspx#33679

http://community.albinism.org/forums/t/6642.aspx

and since you are a nurse you may enjoy a diagram of the eye.

http://www.visionfortomorrow.org/albinism/diagram.php?img=diagram-opticnerve&txt=Optic%20Nerve%20and%20Chiasm

Everyone on this board is so helpful and wonderful.  Let me know if you have any more questions or need more details.   

Hi and Welcome!!!!!!

Well, I (we all) can say we have been in your shoes. I knew nothing about Albinism until I had my son. All I knew was albinos were white and had pink eyes. Now, I get offended when people say albino. People do not know any better though. I had never heard of albinism, i knew the word albino. 

In my opinion and I have a son who is 16 months old of with OCA1b. That is the blond hair blue eye version of albinism. Change PO's. You want to research them in your area and call them up and ask them if they have any patients with albinism. You just want to know if they have experience Andy saw the PO at 2 months, 4 1/2 months. 7 Months. Basically every 3 months or so. Now that he is a lil older he goes every 6 months. They want to moniitor his vision. Every time it gets better and better (yeaa). Do you have a children's hospital near you, that would be a good start. Also, call Lori at the NOAH Number. She can have someone with albinism  or a parent call you from your area.

Now that you have a diag. Call your county and local school district and find out about Early intervention services. (EI).Also, Commission for the Blind.  Even though the baby is so young, they can do wonders!!!! Andy can see so much now, I swear from his vision teacher. She has done so much with him. Andrew developed his nystagmus at 3 months old.  That is when the eyes jiggle. Andy also has a pend nystagmus. As for the a high astigmatisim, Paula the PO from Penn said it is very common for people with albinism to have high astig. That the glasses usually just help the astig and not the the correction for the eye if that sounds right.

As for milestones...

Andy is 16 months old. He rolled over at 7 months, he crawled at 8 month, he walked at 12 months. Children with vision problems can have some delay, THIS IS NORMAL!!!. Keep in mind, for regular kids learning is 80% vision. With lack of vision, there will be delays. We are all worried here about that, but once our kids got older they caught up. As for school, most kids with albinsim are at the tops of their class. They need help with getting bigger reading material, but they excel!  As for driving, it all depends on their vision. Depending on what type your child has, he might be abled to drive. That is a big concern with me too, but I just keep thinking, it is 16 years from now, who cares. But I still worry. To find out what type your child has you can kinda go by the hair and color of the eyes, or go for genetic testing. Since my son has blond hair blues eyes, we did the x-linked albinism genetic test. It came back normal. This summer we will have him tested for OCA1b. We are assuming he has that.The reason why we are doing the test is just curiorsity. It is covered by the health insurance for us, so it is worth it for us.  Right now his vision is 20/380 give or take. He is considered legally blind. (it hurts so much saying those words). Oh, also, depending on your income and family size he could be elig for SSI.

Please read like Paula said the NOAH info, it is wonderful. There are also so many knowledgeable people on these boards. Everyone here helped me when I was first learning about my son. Most of us, had the sleepless, crying nights worring about our kids.

 And this is great you are so proactive, you are a great mommy!!!! Happy Mother's Day and congrats on your newborn!!

Check out parentofachildwithalbinsim.com. It is great!!! 

Jill ( sorry about spelling, I am sleepy)

Paula the PO from Penn said it is very common for people with albinism to have high astig. That the glasses usually just help the astig and not the the correction for the eye if that sounds right.

Thanks Jill for the info. 

Are we all not sleeping tonight? :)

all of us east coast people are up, lol

Must be insomnia in the air.  I called about the sparcs program and they gave my lots of great info Jill, thanks

Hi There !  Congratulations on your new baby !

I have just joined this forum too, my son was diagnosed with Albinism the other day (see my post about it), and he also has Nystagmus.  He's been wearing glasses since he was 6mths old.  He probably would have been in glasses earlier, but I put it off, foolishly thinking his 'eyes were still developing'. 

I'm learning all about it too, so don't want to try to give you advice, but I really did want to tell you, that he hasn't missed ONE milestone yet.  He was walking a week before he was 11 months.  He seems very clever (if I say so myself, haha), and really does catch on fast !  So please don't worry about all of that stuff just yet (I know that's hard to hear - I'm struggling a little with it myself).

 I'm a little surprised about his next appointment being scheduled so far from now.  I find that odd.

The only piece of advice I CAN give, which I'm sure of, is to keep him out of the sun / protected IN the sun.  Sorry I can't help more.

Congratulations and enjoy your new baby xxx 

That is great Roxanne. Dr. Appell is wonderful, we are sticking with her!!! It is a lil of a drive, but worth it!!!!

Congrats on your new baby!  You sound as though you are already on the ball and are asking all the right questions, he's not even a month old!  Ryker has been seeing his PO every 3 mos. and now has moved to 6 mos.  I would suggest finding another PO who is willing to work with and help you.  Everyone has already suggested the things I would,  you will find lots of good support here.

Welcome,

Kelli

To those parents with newly diagnosed children:

 If you call Lori at the 1-800#, she can put in touch with a Rapid Responder.  This is an experienced parent who can help with your questions and provide some guidance.  They are wonderful people who have been through it and have much wisdom.  They can also put you in touch with people in your area who have children with albinism.  Give Lori a call--you won't regret it!

Jo

Thanks for the reply.  At what age did she develop the nystagmus?

By 6 weeks for Lexie!  At that age it showed up when she started to get tired and looked like REM when you are sleeping but with her eyes open.

For Rus we noticed it around 4 months but he didn't "focus" - that's what we kept saying and it may have started closer to 2 months.

Yes, call Lori and if you are able or want to, become a member.

-paula

Hello congrats on your little man! Welcome to NOAH!

My name is Dorothea my daughter Bethany has OA. We found out when she was three months old. Bethany is now nine months old. I know when we found out it was so hard to understand everything that is going on and why and how you can help your baby and what can you do. You feel so helpless. But don't there is so much here that will help you and help with your son. The family's on this site are awesomr they have helped me understand so many things and helped me when I had questions. One way other someone here has been through it and can help. NOAH is great. P;ease don't feel bad about being a nursing and not knowing about albinism. All the nursing in my doc office have never heard of albinism before. My daughter eye doc nursing never have niether. Anyhow about the driving thing everyone eyesight is differnet. You don't know what your little man's eyesight will be. Don't jump the gun right now. Bethany wears glasses to improve her eye sight but it will never be perfect. My doc believes that she may be able to drive in the day light but not at night so I guess time will tell.  About the development again every baby is differnet. He may or may not have learning promblems. Bethany is nine months old and meting every miles stone and then some. She is right on "Q". Please don't worry. He will be fine. My eye doc said he could have eye surgery for Bethany to help will the nystagmus but the % was not high enough for me. I think it was 20% that it might work that is just not high enough for me. But that would be something you would have to think over. My doc give me some exercise to do with Bethany you work with her eyes and the nystagmus. It really seems to be helping her out. With her glasses is see's alot better so really doesn't have to fouces so hard. I notice that is when it really startes to "jump" alot. I really hope this helps you out.

Dorothea