NOAH AOC

Mike:

Welcome to NOAH!  My son Zachary is 4 1/2 and was diagnosed with OCA at about 8 weeks old.  He has nystagmus that has changed since it first appeared at about 6 weeks of age.  Instead of being a back and forth sweeping-type motion, it is more jerky now when he focuses on things.  It actually will seem to disappear sometimes when he first wakes up or completely zones out.  It will go crazy when he is very tired, upset or sick.  Zach also has a null point, and he tilts his head down and to the left to see things at his point of best vision.  It is not too pronounced, but is definitely noticeable.  It has actually become more noticeable lately, but is less pronounced when he has his glasses on.  Did the PO mention whether or not your son has any refractive error like nearsightedness, farsightedness or astigmatism?  Zach is farsighted with astigmatism and wears glasses to correct the refractive errors and help him obtain his best possible vision.  I'm not sure where you are located, but perhaps you could get another opinion about glasses?  Different PO's have different ideas about when glasses should first be prescribed.

I am glad that you have found some comfort in this site because I know I have! 

Hi Mike, welcome to NOAH!!!

My son Andy will be 2 in December. He has OCA1b. We were first told he old had OA, but we did the genetic testing, and he does not have OA. We will test for OCA1b just to see what his diagnosis is. We are just curious. Just to let you know, when most kids are diag with albinism Most docs say OA. Especially if the child has blond hair and not the white hair. Andy has yellow hair and deep blue eyes. No one has a clue he has albinism. I am not sure what your son looks like, but just keep that in mind. Also, OCA2 can have dark hair as well.

As for his nystagmus, when he was 3 months old, his eyes used to just sway back and forth constantly. Once he turned one, that stop and they did this counterclockwise jiggle. Now, it is hardly noticble, except if he is staring at something, or out in the sun. When he is tired or not feeling well it gets a lil worse too. As they get older and learn how to focus and deal with their nystagumus, this null point develops. Andy does not have a head tilt.  There is a surgery that can fix the head tilt and slow the nystagmus. If his is slow, i guess they just just fix the head tilt. There is a wonderful doc at Pitts children's hospital in PA, I also hear there is a good one in North Carolina.

Andy is on tract with everything. He runs and walks fine. He "seems" not to have a depth perception problem. If he is outside and he goes from the deck  the grass, he bends down and feels the area. He only receives Vision services. Next Thursday he has an Orientation and Mobility teacher coming to evaluate him to see if he needs precane services and whatever else O and M does.

Roxanne is one to talk to on here, her daughter had a head tilt and had the surgery. She is doing so much better!!

I hope I helped some

Hi Mike,

Glad you found NOAH.  I am pretty new to this too and have found so much comfort out here...the people are so nice and very helpful.  My son is only 3 1/2 months old and was diagnosed with some type of albinism one month and one day ago...but who's counting - right?

There is an easy way to test to see if it is OA or OCA...OA is carried and transmitted from the mother ONLY.  The pigment in her eyes will appear mottled.  The PO (pediatric ophthalmologist) can easily check Mommy out next time you go in.  Really, it makes no difference though, because the symptoms and treatment for OA and OCA1B are pretty much the same. 

From my understanding, corrective lenses will not do anything as far as the albinism is concerned.  Vision problems that can be helped by corrective lenses are associated with the shape of the eye...glasses or contacts bend the light to compensate for this.  (Is this right ladies?)  Albinism, however, cannot be corrected by this...think of your son's vision issues more like pixels in a camera.  He's got less "pixels" than you do, so he doesn't see the fine detail.  People with albinism are often nearsighted/farsighted AS WELL...so your son may end up needing glasses for that...but if the Doc thinks he's OK without them now, it might be that his prescription is just fine for his age.  You might want to call back and just ask why she did not recommend them at this point - that might make you feel better.  Glasses will not fix the null point - if it bothers you/him, he will need surgery to fix it.  You can look this up on the forum...there are TONS of posts about the surgery and it seems to be very helpful for many families.

Definitely email NOAH to get more information.  I waited a while and regret it...it was VERY helpful.  info@albinism.org

Hope you are doing OK.  It sounds like your little guy is doing just fine!  Good luck!!!

Courtney

Hi, Mike!

First of all: WELCOME to NOAH!  The folks on here have become like an extended family to me.  They are amazing and our children are even more amazing. 

Albinism does not get worse with age, so relax about that!  However, if your son does have a vision impairment that can be corrected with glasses / corrective lenses the earlier the better during these first few years when we develop most of our vision.  My son just got his first pair of glasses and he is 3 1/2 months old.  It depends on the doc and if your son does have an impairment that can be improved with lenses.

If you search some of the old post about nystagmus surgery, you will find a wealth of information about null point surgeries.  As Jill suggested, you should read Roxanne's old posts.  She is at Disney World this week ;O) with her children, but I am sure that if you have any questions, she would answer them when she gets back.  She is a super nice person!

I wish you the best of luck with everything!

Vickie

Hello everyone! 

 Thank you very much for all the feedback, and warm welcome.  I told my wife about NOAH, and she's eager to get online, but it's not so easy with a 4 month old, a 2 year old, and a 12 year old (I know big age gap!).

 Mom is a strawberry blonde with brown eyes.  My son's hair is exactly like hers, and so is his temper ;-)  Unfortunately, I wasn't able to make it to the Doc's appt, but my wife did say that the doc may elect to do a skin biopsy.  You all have posed many good questions, which I myself was wondering, like is he fairsighted/nearsighted?  Does mom have it?  I plan on emailing her the questions you guys brought up (thank you by the way!), and whether she's certain he just has OA, and doesn't have a form of OCA; whether we should be considering surgery; whether we should start the ball rolling on EI services.  His skin is fair but so is mom's, and he's got a pretty good farmer's tan going on, but I'd still like to know if he has OCA.  I don't know why the PO elected to not have the biopsy taken at this time (to me it would seem to make logical sense, unless she concluded with certainty that he only has OA).  His head tilt does really bother me, I'm just worried that his sight may be getting worse, and that as parents we should do something about it.  The nystagmus is better, but he definetely does it more when he's tried or kinda is in la la land.  But, he SEEMS to be able to identify objects both up-close and at a distance.  I really haven't noticed him having any transitional problems, going from a soft service (grass) to hard (pavement).  But, I will keep a really close eye on him and she if I can pick anything up.  Being able to indentify the finer detail of objects, I'm not certain about yet.  We have these little Cars utensils and on them are imprinted tiny little images of Lightning Mcqueen (sp?) and Mater, and he can identify them.  They may or may not mean anything, so I really need to have a chat with the PO.

 I'll see if I can dig up Roxanne's posts to get more insight.  We're right outside of Philly so it's nice to know that there's somewhere we can go in the state if we elect to have the surgery.  I will post back what my PO says.  Thanks again for the great feedback, and I look forward to speaking with you folks again.

- Mike 

I do not know about that skin biopsy. They do genetic testing through blood work. You are the 2nd person I had heard about skin biopsy. I think that is the old way of testing. We did the bloodwork through children's hospital of Philadelphia, they sent to the to a lab I think in Colorado and I think Minnieapolis does the genetic testing as well. Our insurance covers it. Basically it was to see if he had it in his skin. If it was just OA, there are no worries about the skin. If it is a form of OCA then you have to be careful of suntimes.  Andy goes outside before 11am and after 6pm. Depending on the time of year. OCA1b can tan as well also. I do not think OCA2 can tan though.

Andy's sight is getting better as he gets older. But we know this through all his testing at the eye doc's. For example; in Jan Andy's eye sight wa 20/380. In August it was 20/180 in one eye and 20/260 on another. if you know what his vision is now, go back in 4 months and see what they say. It should get better, maybe as he gets older he is using his vison differently. Andy uses one eye more than the other. People with albinism tend not to use their eyes together.

Sounds like you guys are doing all the right things!!! I know what u mean about getting online. I have a 20 month old and a 3 year old going on 30 lol!

Mike:

I'm also not sure about the skin biopsy.  I know they used to test for albinism using hair bulb testing, but have never really heard about doing it by a skin biopsy.  Type-testing is usually done via bloodwork sent to one of the places Jill mentioned.  We did not do it for Zachary since his characteristics point very strongly to OCA1B (he has a farmer's tan too!), and did not feel it necessary since it would not change his treatment.  Anyway, Zach also surprises me with the detail he can see.  He can see much better detail when something is very close to him, though.  You are luck to be in PA close to Dr. Hertle if you choose to go see him for an evaluation.  Hang in there! 

P.S. It's nice to see a dad on here.  Usually it is just us moms! 

Thanks Jill/Brittany!

 I'm getting this info second hand from my wife, so maybe my wife misinterpretted what the Dr was saying.  It was a very quick diagnosis from what my wife said, so maybe this skin biopsy was an off the topic comment?  I will let you guys know when I get a response from the Dr.  My son has fair skin, and the strawberry blonde hair, with blue eyes, but as many people have said on this site, your child can have darker hair and have some tolerance to sun, but still have a form of OCA.  That's what I'm worried about - not that he may have OCA, but that it hasn't been diagnosed.  He's already 2, so if there's help that I can give him that will somehow improve his vision, or improve his quality of life somewhere down the line (however minimal) than I want to know what I can do.  The Dr said not to sweat anything, but how can you not right?

I'm replying from work, so it's a lot easier for me to do than for my wife.  She would probably not enjoy the red-headed tempter comment!

Hello everybody,

 I talked to my PO today and she explained to me further her diagnoses of my son.  She conducted a refractory test on him, and his fovea looked very dull, thus her diagnoses of OA.  She said he is slighly fairsighted, but said most kids his age are due to the lack of development in being able to process images.  She said it was difficult to actually gauge the level of visual acquity at his age, and that those sorts of visual tests were mostly conducted at children's hosipitals (where they use white cards with black lines, with varying degrees of diameter).  She said she doesn't know whether he has any other mutation of albanism, and that the skin biopsy was something she would potentially do somewhere down the line before he starts school, to gauge the level of melanomanol (sp?) cells.  She basically said that he may develop more pigment as time goes by, and that in 6 months she will be able to see if that's the case (if she's sees more refraction).  The Doc said shes seen over 25 kids that have Nystagmus, and in only 2 cases surgical intervention was involved.

So basically she's saying that if in 6 months he's got more pigment in his fovea, and if he seems to not have any visual impairment, then why put him through a blood test or skin biopsy.  She didn't answer the question about why mom wasn't checked.  She would still like to do a visual acquity test, but not right now.  Of course there were follow-up questions I didn't think of while I was on the phone with her, like how did you determine he was fairsighted?  Why doesn't he need glasses?  What wasn't mom checked? 

Does anybody see any concern with the Doc's diagnosis, and long-term treatment plan?

Thanks for your input,

Mike

Hi Mike...

well, sounds like  the PO is ok. At least she said 6 months that is great!. Please look up old NOAH post about the skin biopsy. That is the old way of doing things. my huband read your post and sent me old post saying that is very painful for the child. The blood test is simple (Andy did not eve cry), and is more accurate (with most) about which type the child has.

\Other people do not care about genetic testing. I do just because I think it is wild that Andy has this. We did need to know if it was OA or OCA for reasons I said before. Now, we want to know is he has OCA1b or OCA2. Since Andy's hair  is so yellow, we are "ASSUMING" he has the yellow albinism or OCA1b. His hair is so yellow and he has such deep deep blue eyes. We will get the test done again just for us to know what we have in our genetic history. Also, if this mutation started in him, or is it in the family. In other words does Katie (his sister)  carry this gene. Like I said many people are very offended by the genetic testing. ususally the parens with the children with white hair or have obvious OCA1 no pigment at all. If Andy had the white hair and lite blue eyes I also think it would defeat the purpose

Off subjest as usual, lol. It sounds like your PO wants to really help you. what you can do is give her the info out find about the biopsy and ask about genetic testing. I am sure she rather be updated. You might want to call around to different PO's and ask the if they have any people with albinism. I called a few and one actually said it ewas against HIPPA to tell me. I said, I was not asking for a name, just exeprience the doc has. Also, If the blood work comes back inconclusive, have him tested fot HPS. This is a blood clot disorder that cause people to have albinism. It is rare. but one to be check out.

I hope I can help ya.....

Jill

Hi Mike,

I have never heard of testing the skin...interesting.  For me, I don't see the point of testing for the melanomanol cells...you can tell by looking at a child if he has pigment or not.  Of course, there is so much about this that I don't know, so I'm sure there is a good reason for it.  If she is thinking that you could use the biopsy to test for OCA v. OA, like I said, there is a way to look at Mom's eyes to check for that and it's obviously MUCH less invasive.  Our PO described albinism like a spectrum, a person could have no pigment at all or varying amounts up to the point where you couldn't tell the person had it.  For us pale people, that makes it tough to guess at the type.  Our PO looked at both my husband's eyes and mine and could see some transillumination in both of us, so it's likely our son has some type of OCA.

It seems like you are a lot like me and want to feel like you are doing SOMETHING at this point.  I would definitely recommend contacting Early Intervention (you can find them by calling the school district or local center for the blind).  This is a government program that works with kids from birth-3 to make sure they are not delayed when compared to their peers.  I just met with them this week and they had an Occupational Therapist test Cameron's function vision (which tells us how he is using his vision).  He is doing good and was only slightly delayed in things like focussing on faces and tracking items.  He didn't qualify for services (which is good), but they did give us some ideas on ways to play with him to make sure he continues to progress.  Getting his functional vision was more helpful to me than meeting with the PO, because at this age it's hard to test their acuity anyway and it also gave me some "homework".

I don't think there is anything wrong with your doctor's opinion or treatment plan, but it sounds to me like you would like a second opinion.  I think that is a good idea.  My husband and I met with two POs before chosing the one we were most comfortable with.  I think you are in the Philly area, right?  Perhaps you could go and meet with Dr. Hertle just to see what he thinks...besides being the most popular surgeon I have heard mentioned on this board, he also is a regular PO and he obviously has a TON of experience with albinism.

It does sound like your family has a lot to be encouraged about.  I'm sure your son will be just fine whatever you decide to do.

 Courtney 

Thanks Courtney/Jill.

 I talked to my wife about getting a second opinion, and although she is open to that, she does not want him to go through a skin biopsy (apparently it's painful) or Nystagmus surgery if he is likely to improve.  In regards to EI services, how does your child become eligible?  Will they test him as well, or do you need to provide some medical evidence?

It might be a good idea to get the blood test as you suggested Jill.  It's a lot less invasive and painful than the skin biopsy. 

 We've started to analyze, or maybe even over analyze, my son's behavior.  He ran into the door jam the other day, and also feel when he was running from the grass into the sidewalk and scraped his knees.  Can those events be attributed to his condition, or is it something a normal 2-year old does?  Who knows.  We're taking precautions just in case - applying sunscreen on him, and making him wear sungalsses and a hat.  The genetic testing we're going to holf off on, because it doesn't change a lot whole lot like you've both mentioned.  We ultimately want to know, not just for our sake, but so that my son knows when he wants to have kids.  Right now, I'm going to take comfort in the fact that I have a beautiful red-haired little boy, who may happen to have bad eyesight.  Things could be a whole lot worse.

Regarding the EI: In my state, I went to the local Center for Blind and Visually Impaired Children and they had an Occupational Therapist test his functional vision (which is different then testing actual acuity...it's how he's using whatever vision he has).  In our case, Cam's vision was too good to qualify him for services, but she did find him to be a little delayed in some areas.  The test was kind of like playing...she showed him toys and watched his responses to them.  It took about thirty minutes.  She also asked us questions about things we witnessed at home.  I would guess they could do a much better assessment on your son, seeing as he is older.   She gave us some suggestions for things to work on with him at home and he is going to be rechecked in two months. I actually found this more useful/practical than the meeting with the PO.

Most Moms out here have described their children as pretty normal as far as getting around, tripping, etc - even those who have legally blind children.  He sounds like a normal, clumsy 2 year old to me.  :) I would not worry about it too much just yet.  The EI testing will help you find out where he is at compared to his peers - that is what EI is for...to make sure  he's not delayed when he gets to school. 

I agree with you on the blood test vs. skin biopsy.  When we do the testing for Cam (probably next year), we will definitely do the blood test.  I had to have Cam's blood taken last week for HPS testing and he did SO WELL for only being 3 1/2 months old.  I was so proud.

You are very right that things could be so much worse.  Sometimes, I get a little down...but then I come out here and things seem ok again.  There is no reason to think our little boys will be limited in any way at this point.  I try to focus on him and not his albinism and find a lot of comfort in that. 

Courtney

We called the commission for the blind, and they came to see him. i had a letter from the PO stating he has OA (at the time). It is a given they know they have a vision problem. Also, she told me to call special services in the county. So, he actually has 2 vision teachers.

As for running into things. Andy walked into a gllass door at the mall a few weeks ago. But then again, we all have done that.  I think it is a combination of albinism and age for triping and falling. My daughter always runs and falls, and I swear her vision is 10/10 instead of 20/20, lol!

Sounds like you guys are doing everthing you can! Please keep bringing the questions, we all learn new things on here about our kids! My son is a lil younger than yours, so even though it is wrong, lol. i love to compare. This is new to most of us, i like to know a lil what to expect!!! Andy is the first on either family to have albinism! Please join NOAH, it is well worth it! Also, there will be a NOAH Conference in July 2010 in DC. Thank God, we live in Jersey on a 4 hour ride for us!!!

Good luck!

Jill