NOAH AOC

Hi, My name is Courtney and my husband, Jon and I just found out over the weekend that our 11 wk old son, Cameron, has some type of albinism.  Our pediatrician recommended we see an opthamologist "just as a precaution", told me it wasn't a rush, and didn't give us any hint of what we might be facing.  She didn't even tell me the name of the symptom (nystagmus)...I found out by calling a couple days later and the nurse mentioned it.  When I googled it and saw how bad things might be, I called one of the docs my pediatrician suggested and begged they get us in, so they squeezed us in at the start of the day Saturday.  When the opthamologist told us, there was very little compassion.  He dilated my son's eyes and asked us to wait in the waiting room...so I was stuck crying in their waiting room in front of a bunch of other people.  It was terrible.  Later, he gave us MINIMAL information about albinism, told us it was hereditary, and I swear he was telling us not to have any more children.  I felt like he was diseased...it was terrible.  Maybe it was the shock/disappointment of hearing something was really wrong, but I really didn't leave there feeling there was any hope.

This is so hard...I have so many questions.  Who will be able to tell us what type he has?  When will they be able to tell us?  How do they tell which type it is?  He is pretty pale, but so am I and Daddy is too.  He has rosy cheeks and light blond hair on the top of his head, but it is reddish in the back...does that mean it's just the occular type?  When will we find out how good/bad his vision is?  His nystagmus is intermittent and there are times he really looks like he is focussing...is this good?  Will it get worse/better?  He smiled at six weeks.  Should I be encouraged by that, does it mean his vision might be on the stronger side?  Will he play and develop like other babies?  What are the next steps?  Is there anything that I can do to help him?  What is the BEST I can hope for and the WORST I can prepare for?  How long will it take me to be OK with this???

This website has brought a lot of comfort...just knowing there are other people in the same situation...any information any of you can offer would be SO MUCH appreciated.  I feel like I am in limbo.

I am fairly new to this, but I will tell you what I know about things.  First of all, I have learned that even those that have horrilbe vision, still function almost like a "norma" person, so I hope that that helps you to relax just a little bit.  Your son is going to be ok.  He is going to have vision issues and need sun-block and hats.  But otherwise he is going to lead a normal life.  I saw so many amazing people with Albinism at the conference and it helped me to realize that Jathan is just as normal as his non-albinism sister (just in a different way).  I mean what is normal anyway?

OCA can be tested via blood work (just a small sample) but is very expensive (so check with your insurance) and is usually done by a genetists.  OA can be verified by checking the mom's eyes by a opthamologist to see if there is any moteling in them (OA is x linked and is passed by only the mom and it is almost 100% of the time only found in boys).  OCA is a recessive gene and almost 100% of the time is passed from a recessive gene of both mom and dad.

At any rate, the decision to have other children is yours and not your opthamologist's.  I had the same experience and it took me until now to be just ok with things.  Some doctors have horrible bed-side manor and no compassion.  For the life of me, I don't know how the stay in practice.

 Anyway, there are many far more experienced people on here that I am sure will give you better answers, soon.  Take care and take a deep breath b/c things will get better, I promise.  My son is 13 weeks old and he was diagnosed at birth.

From the NOAH home page, there is a 1-800  number listed on there and if you call it, Lori will put you in contact with a rapid responder that will help you and answer your questions.  You won't regret making the call.

Welcome to NOAH.  The people on here are so amazing..

Oh, by the way: I forgot to mention that most states have early intervention.  I don't know what it is in WI.  I called my local school system and they put me in contact with the right people.  Your son should receive at a minimum vision services and possible OT.  A lot of children receive Speech therapy when they get a little older, but some never need it.

Hi and Welcome to NOAH!!!!!

My name is Jill and we were in your same situation about 17 months ago. At 2 months my son still had not looked at me. I knew something was up. We took him to a friend of ours who is an eye doc and told us he thinks he might have ocular albinism. We just looked at each other. We had never heard of this. We went home and looked it up and saw many worse case scenrios. It was dreadful. My son was born with blond hair and blue eyes. My husband has black hair and deep brown eyes and I have brown hair with green eyes. Needless to say he was a surprise when he was born. My husband actually whispered to me "albino?" The nurses said no way he has blond hair. So needless to say at 2 months we were told to go to a ped opthma. She would not see him until 4 months (because pigmentation can keep developing after birth). Then we were worried sick out of our minds scared to death and did I mention worried. Well, at 3 months Andrew's nystagmus developed. We knew then he has OA (ocular albinism). We went to the PO (Ped. Opthm) ans she said within 20 seconds of lookiing in to his eyes he has albinism. Eye doctors usually say OA, they rarely say OCA. Then I asked the PO if this was considered a disability and she said to me "It depends on how blind he is"  I was numb for the rest of the 2 hour appointment.

The next week we took him to children Hosp in Phila. We saw a retina specialist. He confimed the OA and said he thought it was OCA1b or OCA2. because his hair was becoming yellow and deep blue eyes. We did the genetic testing for the X-linked whick is the OA and it came back normal. So, he has either OCA1b or OCA2. We think he has the OCA1b because his hair is sooooo yellow.

At 4 months when we had a diagnosis I called he Commisssion for the Blind. They sent someone out and also told me to call the county for Early intervention. He has 2 vision teachers. One from the commission who comes out once every 4-6 weeks. And the county vision teacher comes every Thursday. It has done wonders for my son. My son did not look at us until he was about 4 1/2 months. It was the best feeling in the world when we had eye contact. The nystagmus was a constant eye movement left to right. Once he turned a year, it slowed down. You will hear that from many parents. That it slows down as they get older. Also, every appointment we went to his vision gets better.  He goes back to the PO on August 21st. As of January his vision was 20/380.

Since his best corrected vision is worse than 20/200 he is elig for SSI. We make to much money for it, but it is something to consider. With all the appointments it helps with the co-pays. Since he qualifies for SSI but we make to much money, he is elig for disability medicaid. We have regular insurance through my hubby's job and then the medicaid. So, we do not have to pay co-pays. I know this is overwheming. But, you should know about these resources. Many of us parents found out about this stuff when our kids were a lil older. For example , Andy just got the medicaid in June. He is now 19 months.

Now that I said he is 19 months, I wanted to let you know he is doing great. You would never know he has a vision problem. I do not treat him any different then my daughter who is 3. He plays fine in the TV room and learned to walk around the toys on the floor. Andy rolled at 7 months, crawled at 10 months and walked at 12 months. I am so happy with how he has progressed. He is so amazing. Many parents with older children will tell you their kids are doing great. They play sports, go to college and most people with albinism have wonderful careers!.Your son is going to be fine.

Sorry so long, but we know what you  are going through. I have to tell you. I did not sleep for the 5 months after we found out about Andy having albinism. There are times now when I see him squint at something I go in to the bathroom and breakdown.

NOAH is a wonderful thing. They have helped me so much. We just went to the conference in Vegas. It is like one big family. You will develop long lasting friendships here and your son will know there are othe kids like him. Oh yea and that eye doc is an idiot. You can have as many kids as you want. Depending on what type of albinism, each pregnancy has a 25% chance of having albinism. (Thanks brit)

 Check out this website....

http://www.parentofachildwithalbinism.com/    This is a great website!!!

Hi Courtney,

Wow, I remember being in your place right now and know what you are going thru.  Ryker, my son who will be 2 next month, was diagnosed at 10 weeks.  Ryker is doing great, as Jill said about Andy, you would never know he is visually impaired the way he gets around.  Yes, he does get right up to books and the TV ( annoying to his bros!) and may need accommodations as he gets into school, but overall he will be fine and so will your son.  You have come to the right place, there is so much support here, more than I get from my own family cuz the people here know what I'm talking about and how I am feeling.

You will need to get a blood test to find out what type, but I'd rule out OA by having your eyes examined first.  No matter what type of albinism he has, there really is anything different as far as treatment.  I would get him into early intervention so they can make sure he is on track. Ryker had OT once a week for a month or so and is now down to 1 time every other month to make sure he is still on track.  We also have a vision consultant to help us with any questions we may have.  It will be awhile before they can get a good reading on your son's vision.  Even at Ryker's age, it's just an estimate til he can actually name objects/ letter. His vision is 20/260.  Nystagmus does get better with age, Ryker's is still present but not near as bad as it used to be.

Yes, it will be awhile to accept the fact that your child has albinism, there are still times I feel sad.  But our children will be okay and grow up to be wonderful people.  He will do everything he sets his mind to, it may be done differently than someone else but it will be done.

Please, feel comfortable asking anything.  We are all here to help and support each other.  Congratulation on your beautiful baby boy and don't forget to enjoy him as he is, he will soon be running all over and having no time to cuddle with mom!

Take care, Kelli

Wow I defianatly remember how you are feeling.Michael was diagnosed litteraly at birth ( which I have found is not always to common ) and I was 15 years old and had never heard the words albinism and albino before then. They had given me fairly good info but also very wrong info. Finding out about my sons condition was almost impossible back then. One paragraph in an encyclopedia and NOAH's former webboards ( which had the best info for the time but nothing like now ). I have eventually learned the same thing you will in time. It isn't as bad as it seems. My son Michael is now 13 years old and does JV sports such as wrestling, track, and snow skiing ( in which he won 3 gold medals ). There are plenty of vision services available for the blind. In MO we have First Steps which is an early intervention program that sends therapists to your home. When he hits school age you will find he might need more services but it is the schools job to provide them. He should play and develop like other children but certain things might happen slower as vision is integral to development. Such as Michael's speech was delayed but he has been out of speech classes for a few years now. Almost all toys now a days make noise and light up which is one thing I recall first steps recommending for him. Like I said, early intervention is best as it will help you reconize earlier rather than too late if he needs more services. Michael had nystagmus surgery at 8 months old. Some people have found this to be a very helpful surgery. We had pretty good estimates of his visual accuity and a really young age. See about taking him to a low vision specialists maybe if your pediatric opthamologists doesn't seem to suit you.

If you don't mind me asking.... Do you live in a small town? I live in a city now but have lived in small towns and have found the doctors bed side manners to be ;ess than desirable and often ignorent ( at least in may neck of the woods but it is usually due to lack of expierience in these things. I only ask because if you do and it is't to difficult to get to a bigger city you might find better help as far as doctors go.

I dunno if I helped at all but if you would like to ask me more direct questions feel free to contact me at any time!

Nikki

Mother of Michael 13 ( who has OCA1a )

and

 Christian 10  ( who is just spoiled for no apparent reason ;) )

nikkib0414@yahoo.com

www.myspace.com/darlingnikki0414

First of all congratulations on your beautiful son.  He will have a wonderful life, much like the one you dreamed of for him.  My 8 yr old daughter, Kay, has OCA.  She just finished her second season of swim team.  She plays soccer and basketball.  She loves riding her bike and scooter.  She loves going to the beach.  She has lots of friends.  She is great at ice skating.  Kay has yellow/blond hair. 

 She does need sunglasses and often a hat outside, but that is easy.  I do reapply her sunscreen more often than my other two kids.  Again, not a big deal.  Kay is going into third grade at our local Catholic school and doing great.  She needs to always sit in the front and have some papers enlarged. 

Assuming that your son has OCA, the chance of having another child with OCA is 1 in 4. 

It will take you some time to get used to the diagnosis of albinism, but when you keep reading this boards you will see how wonderful all of our children are.  Your son is too.  In a little while, you will be the one welcoming new parents here.  You will be letting them know all of Cameron's accomplishments.  Just give it a little time. 

Hi Courtney... (((HUGS))).

Trust me, every single one of us on this board has been in your shoes. Give yourself some time to grieve a bit, and then try and realize that this TRULY is not the end of the world. The hardest part is now b/c so much of your future is unknown. I have 3 children, my first child (now 6 years old) has OCA1 and my younger two do not have albinism. I came on this board almost 6 years ago in the same state (just click on the posts under my name and you'll see) - now I'm faced with a completely normally functioning child who is doing wonderfully in a normal private school and will be starting 1st grade in a few weeks. She has come soooooooo much farther than we ever dreamed possible. She has full-blown albinism (proven by bloodwork at a geneticist), and yet she has some pigment... lots of dark blond streaks in her hair, has freckles and even tans a tad bit. She still has to wear sunglasses outside (she wears transitional lenses) and sunscreen on extra sunny days when she's going to be outside alot, but honestly, these are the only major setbacks. We recently found out that my middle child has autism. I can honestly say, without a moment's hesitation, if I had to chose albinism or autism for my son, I'd choose albinism in a heartbeat. That said, this is the worst you are going through right now, this is your first child (and SHOULD NOT be the last if that is what you choose... we went on to have 2 more children against everyone else's wishes, including my mother's - it's nobody's decision but your own), so grieve. You're allowed.

Also, although we now live in Raleigh NC, we used to live in Milwaukee (just moved from there 11 months ago). We had a wonderful PO there, Craig A. McKeown (pronounced McCue-en), with Bascom Palmer (one of the best eye institutes in the country). He was the one who originally diagnosed Jordan and cared for her for the 4 years we were there... my main recommendation is to switch POs and find one who is compassionate and who knows something about albinism, one who specializes in opthalmic genetics. I highly recommend McKeown if you don't mind driving to Milwaukee. Here's his bio:

http://www.bpei.med.miami.edu/site/find/find_results_doc.asp?doc_id=24&old=1

Please feel free to e-mail me or call me at anytime to chat... I'll give you my phone number as well. coloughlin@nc.rr.com. We've been through this and went on to have 2 other children and are a complete, happy family of 5. And don't feel guilty that you aren't at the point of feeling ok about this yet... it took me quite awhile to get there, and honestly the only reason I got there was because I started seeing how much my daughter truly CAN do... for now, your future is still unclear, but I promise you - your son will be able to do sooooo much more than you realize. That's a promise.

Sincerely,

Erin

Jordan Grace (6), Marcus Patrick (3), Brendan Thomas (21 months)

OMG, I am so incredibly stupid. I just gave you the referral of our awesome PO in Miami (where we were before Wisconsin). Wow, my brain is really not working right now - I've had two sleepless nights and am functioning on coffee right now b/c Jordan just underwent nystagmus surgery yesterday. Yikes, I am so sorry, I can't believe I did that. In Milwaukee, we started out with a horrible PO at Milwaukee College Wisconsin - for the life of me I can't remember her name right now, b/c we only went twice before leaving. She was horrendous. We wound up with a private practice with a woman named Maria Patterson. She was wonderful and caring and knew her stuff. http://www.kisdseyecare.yourmd.com/

She studied (many years ago) under our current PO at Duke Eye Center, the reason why we are now going to him here in NC.

Once again, my apologies. But McKeown is really awesome if you feel like flying to Miami, LOL!

Erin

Cam's Mommy,

First, take a deep breath and know that Cameron will be just fine.  He is gorgeous and will amaze you as he grows.  You have already gotten very good advice from other moms, so I just wanted to reiterate that Cameron will do all the things in life that he wants to do.  My son Zachary is 4 1/2 and was diagnosed when he was about 8 weeks old.  Looking back on it, I'm shocked that not a single person in the hospital said anything about albinism when he was born.  I am white and his dad is black, so when he came out with very pink skin and platinum blond hair, well, everyone just thought we had dug really far down in the gene pool!  We think Zach has OCA1B because he has darker blond hair and eye lashes that have darkened with age and he can actually "tan" a bit and has some freckles.  We have not had the genetic blood test done since it doesn't change treatment, at least not now.

I'm sorry that you had a bad experience with the PO.  I agree, go to a larger city if you need to to have Cameron followed by a GOOD PO who knows their stuff.  Please don't believe what you read on the internet or what you may hear from docs about no driving, no sports, etc.  That really is baloney.  Zach plays soccer every week at school and does just fine.  He might get closer to books, the tv, etc., to see them better, but that's not such a big deal.  He runs around and rides his bike and plays like any other child.  He has worn a hat and sunglasses when outside since he was a baby to shield his light-sensitive eyes from the sun, but it's just part of his normal routine and he doesn't think anything of it.

Go ahead and find out what agency coordinates Early Intervention in WI and get him on their radar so that they can track his progress.  If he falls behind in any developmental area, PT, OT, speech, etc. are all available to him through this government program.

I can't tell you how long it will take to "get used" to his diagnosis.  It's so different for everyone.  But, rest assured that we have been there and you and your family are not alone.  You can read back through all of us moms' early posts and know that we have all been there.  All of us work through the diagnosis and come to terms with it at some point.  Just love him and watch him grow and surprise you all the time with what he can do!

I really wish I could answer all of your questions, but I'm at work and have to run!  One last thing, you can e-mail info@albinism.org and Lori Aubrey can put you in touch with a Rapid Responder in your area - usually another parent - who you can contact for support, advice, comfort, etc.  I did this when Zach was diagnosed and it was invaluable.  Hang in there!

One thing to add for those who have mentioned this... Jordan's genetic test came back 100% positive for OCA1... and YET she has quite a bit of pigment. She has dark streaks in her hair, some freckles, tans a bit, has shocking ice blue eyes, and has dark eyelashes. So, some pigment does not necessarily mean OCA1b or a. It's just a mind-boggling condition and there's still so much I still don't understand after 6 years.

Erin

Hello Camsmommy,

First I want to say welcome to  NOAH!! This is the best place for you to find any info you will need and want. My name is Dorothea my youngest daughter Bethany has OCA1b or OCA2. not sure which one. We will be getting her test here soon. That is something you and your husband would have to choice to do or not. If you don't do  it is okay. Because even if you do test the biggest thing you will be doing for your baby is sunglasses and sunblock. It doesn't matter weather he has OCA1 Or OCA2 They way you take care of him is going to be the same. My husband and I want to do it so we know other then that there is no other reason.

When I found out about Bethany I felt the same way you did. I am sure all of us here have. But it is okay. Cam will be ok. Bethany just turned one on the July 30th. I had her at her doc for her year old checkup and she is metting every milestone she is suppose to be. These kids are just as normal as every other child out there. they only diff is they get to wear cute sunglasses all the time!!   I know you have alot of question we all did and some of us still do (like Me) I have alot to still learn but all in time. you can't over do it.

If Camron has OA he got it from you. It is a mother to son gene. Which is ok. If he has OCA1b or OCA2 he would have got it from mommy and daddy. Both of you are carriers. Again which is okay. Bethany got it from me and Ben (my husband). Also you can have more children. we also have a 5 year who does not have albinism. If Camron has OCA1b or OCA2, I will try to explain as well as I can. You have a 1 in 4 chance of haveing a baby with albinism. in other words 25% chance for a child to have it (camron) 50% chance that 2 would be carriers, 25% that one would not be effected at all. I really hope this make sense. If not you can get hold of LORI send her an email at webmaster@albinism.org and she will get hold of you. She is great she helped me and my husband thorugh alot of the question we had. Pluse all the parnets here have been through it and can give you some great info and ways to help your child.

I really hope I helped you. But if the only thing I can give you is that Camron is going to be fine. He will be a normal boy!!

Dorothea

Courtney--

Please contact me via email at jonella59@hotmail.com.  I would be more than happy to talk to you by phone or meet up with you somewhere in person---we are practically neighbors--I live in Cudahy!!

I'm 48 years old, have OCA1, probably OCA1a, am married with three daughters, two grandsons, I have a bachelor's degree in biology, swam competitively through college, hwve worked a variety of jobs and have done many wonderful and exciting things.  I'm not bragging, I'm just trying to show you that everything will be OK. 

I was diagnosed at birth by the family Dr. in 1959--born aty what is now St. Lukes South Shore!  He gave my mom the best advice.  He said I would have poor vision, but it was too soon to tell exactly what it would be, but I could see, and to protect my skin from the sun--not easy before sunblock!  Other than that to treat me like any other baby. 

At about six months, I was referred to a specialist to confirm things, etc.  He told my mom to put me in an institution because I would be totally blind, never walk, talk, etc.  NOw, how could he say that when it was obvious by then I could see, and I was already saying mama and dada and creeping aroudn, hitting all milestones on time or sooner?  Luckily my parents never took me back to that kook!  I think he was wrong!!

Like I said, email me, I'd be more than happy to talk to you or meet.  I know it is hard now, but trust me, it will get better!

Joni

Hello All...I'm sorry for the delay in responding to all your wonderful posts, but things have been a bit hectic.  First though, I just want to thank you all so much.  Although it took me a while to write back, I have been reading all of the messages and found so much comfort in hearing from other parents in the same situation. 

Some personal messages:

Vickie:  It sounds like our little guys are just about the same age.  Too bad you live so far away, or we could have a play date!

Jill:  I have a feeling our incomes will be too high to qualify for SSI, but how do I find out about the Medicaid?  Should I just call the regular Medicaid number and ask?

Nikki:  We live in a suburb of Milwaukee, WI.  The 1^st doc we saw was the head of ophthalmology at our state's Children's Hospital and graduated from Harvard Med...apparently a good education doesn't guarantee a good bedside manner.  Part of me thinks I was just in shock and may have been a bit hard on him.

Joni:  We are practically neighbors!  I will definitely send you an email when I have my hands a bit more wrapped around this craziness and we can get together for a coffee or something. J

To Everyone I Missed:  All of your comments were SO helpful and made a big difference in getting me through this first week.  I honestly don't know what I would have done without you guys!

AFM (As For Me...well Us, I guess):  We went to another PO on Tuesday, who confirmed some type of albinism.  She was much friendlier and better with Cam than the first gentleman and has even written a chapter on ocular albinism for an ophthalmology book.  She examined both my eyes and my husband's and is guessing we are both carriers because she could see transillumination in both of our eyes.  She didn't mention mottling, so I'm guessing he has some version of OCA.  He does have pigment, his hair is actually strawberry blond in the back, so I'm guessing OCA1b or OCA2?  The tough part is his Daddy and I are both so fair...he really does look just like us.  If it weren't for the nystagmus and the super red eyes in pictures, you'd never think anything was out of the ordinary.  If we do the genetic testing, we will wait until next year when we can get better insurance with a smaller deductible.  If it's not covered, well...I have a feeling that Cam would like a Rainbow Play System much more than a number defining his condition...so, we probably won't do it.

I have already contacted the Center for Blind and Visually Impaired Children in Milwaukee and they are going to send someone out to assess Cam's visual abilities.  I am excited for that and can't wait to get going.  My mother in law also bought him some different toys with lights and mirrors, which he really seems to like.  We are also going to get him some high contract toys/cards.  Finally, I work for a small company with about 30 employees total and I sent out an email letting everyone know what was going on...to my surprise, FOUR PEOPLE responded that they know someone with this condition and in all cases they were doing well.  It was very encouraging.

It's funny, sometimes I am really OK with this, sometimes I feel like it's not really happening, and sometimes (although a lot less frequently than the first couple days) I really feel bummed.  I am feeling much more positive about this now, though.  I just can't wait to find out what his vision is, though...I want to know if it's going to be near normal, terrible, or in between.  I HATE NOT KNOWING!!!

Questions for Anyone:

• At what age can we get an estimate of his visual acuity?
• What have you heard about the surgery for nystagmus? I know it is early to be thinking about this, but I just want to prepare myself for everything. Is this something that insurance might cover? How much does it cost?

Courtney:

You have made terrific progress and are doing all the right things.  Glad to hear we were able to ease your mind a bit.  We are just now getting a good idea of Zach's acuity and he is almost 5.  We will get an even better idea when he can read the regular Snellen chart with letters instead of doing the picture chart he does now.  Close up, he can read the 20/30 line, but at a distance his vision is more like 20/200.  Unfortunately, when they are babies, it's only an educated guess as far as acuities go.  Your doc may do (ours didn't) the Teller cards to see what his acuity is early on.  Not knowing is definitely difficult - boy, do I remember that.

I can't answer your question about nystagmus surgery yet.  I have done a lot of research and am just now considering taking Zach to see Dr. Hertle.  But, there are parents on here that have had it done for their children, and I'm sure they will respond.