NOAH AOC

Hello my name is Dorothea my youngest daughter Bethany has nystagsmus ocular albinism. I asked about the Hermansky-Pudlak Syndrome I have read alot of what everyone has wrote, it is very helpful. But as I was reading I seen the letters OCA1A, OCA1B, OCA2, OCA3. Can anyone tell me what these stand for and how I know what type my baby girl is? I feel really stupid for not knowing what this mean! I am trying to learn everything I can so I can help my daughter in every way.

Brittany thank you for sending me to your forums on the testing very helpful. I just have one more question does Bethany  peds dr order the test or her eye dr.?

Thank you everyone one for the help!

Hope to hear from anyone soon.

Dorothea Stein 

Dorothea:

Hello my name is Dorothea my youngest daughter Bethany has nystagsmus ocular albinism. I asked about the Hermansky-Pudlak Syndrome I have read alot of what everyone has wrote, it is very helpful. But as I was reading I seen the letters OCA1A, OCA1B, OCA2, OCA3. Can anyone tell me what these stand for and how I know what type my baby girl is? I feel really stupid for not knowing what this mean! I am trying to learn everything I can so I can help my daughter in every way.

Brittany thank you for sending me to your forums on the testing very helpful. I just have one more question does Bethany  peds dr order the test or her eye dr.?

Thank you everyone one for the help!

Hope to hear from anyone soon.

Dorothea Stein 

Dear Dorothea,  I am the regional coordinator for The Hermansky Pudlak Syndrome Network for the Mid Atlantic part of the USA.  To be honest, I do not understand OCA1 and the other things mentioned, but I am very well versed on HPS 1 HPS 2, HPS 3 and so forth.  I will tell you that your child can have either oculocutaneous as well as ocular albinsim, and it is still possible with either phenotype to have HPS.  As for ordering the test, either doctor can do this for you.  The testing is free for HPS, but you need to contact the home office in NY for all the details.  Donna Appell is our president, and can be reached most days at 1 800 789 9477 or you can contact Heather Kirkwood Vice President via email at hkdawn@yahoo.com.  I would give you Heather's # but I don't have it handy at the moment. If you ever just want someone to talk with, I'll be glad to talk with you my home phone is 336 954 3604 or email at till3604@bellsouth.net .  There are also a couple of people with pretty good blogs.  I have one at www.myspace.com/karenshpskorner  and Heather has one at www.heatherkirkwood.blogspot.com   The likelihood that Bethany would have HPS is fairly slim, but I think early diagnosis is important.  However if you are of Puerto Rican descent the odds seem a little higher.  Hope this helps, and have a great weekend.

I did find this brief description of what you were also asking above: 

DESCRIPTION

Oculocutaneous albinism is a genetically heterogeneous congenital disorder characterized by decreased or absent pigmentation in the hair, skin, and eyes. The term 'albinism' includes specific ocular changes that are the results of reduced amounts of melanin in the developing eye; these abnormalities in the eye and optic system are specific and necessary for the diagnosis. Aside from decreased pigment in the iris and retina, optic changes include decreased visual acuity, misrouting of the optic nerves at the chiasm, and nystagmus (King et al., 2001).

OCA1, caused by mutations in the tyrosinase gene, is divided clinically into 2 types: type IA, characterized by complete lack of tyrosinase activity due to production of an inactive enzyme, and type IB (OCA1B; 606952), characterized by reduced activity of tyrosinase. OCA2 (203200), OCA3 (203290), and OCA4 (606574) are somewhat milder forms of the disorder, caused by mutations in the OCA2 (611409), TYRP1 (115501), and MATP genes (SLC45A2; 606202), respectively. See also ocular albinism (OA1; 300500), which is restricted phenotypically to ocular involvement only.

Although OCA caused by mutations in the TYR gene was classically known as 'tyrosinase-negative' OCA, Tripathi et al. (1992) noted that some patients with 'tyrosinase-positive' OCA may indeed have TYR mutations resulting in residual enzyme activity. These patients can be classified as having OCA1B.   This may be more complicated than you wanted, but the website is very reliable.  My suggestion to learn more is to visit  http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203100    You can also search this website for the other types you mentioned.

Karen Tillman, Regional Coordinator, Mid Atlantic, USA

NY HPS home office 1 800 789 9477

My NC phone 1 336 954 3604

Hello Karen,

Thank you for the information! It is great. I going to call on tues to the
New York and talk to Donna Appell about the testing. It would be great to have it done so I can rest a little about it. I printed out the page so I can read it and get a better understanding of all the types. Thank you again for all the info. Also would my Dr. know what type she has?

Thank you Dorothea

Dorothea:

I apologize for responding a month late, but I just saw your post!   Hopefully by now you have been able to speak with Donna or Heather with regard to HPS testing.  Some good basic info was also provided to you about the different other types of oculocutaneous albinism, including OCA1A, OCA1B, OCA2, OCA3, etc.  These are different types of albinism caused by different gene mutations in the OCA gene.  The mutations cause varying degrees of albinism.  OCA1A is the "typical" albinism - white hair, light blue/violet eyes, white skin.  OCA1B and OCA2 can result in more pigment, because it's more of a "leaky gene" mutation instead of a complete lack of pigment.  The only way to know what type Bethany has is to have genetic testing done, and even then, you're not 100% guranteed an answer.  I know other parents here have had it done for their children, but we have not had Zach tested so I don't know the details.  You would most likely need to see a geneticist who could order the tests and send them to the appropriate lab - I think it's done in Boston maybe and possibly another place?  Sorry, I'm sketchy on those details since I never really looked into it.  We believe Zach has OCA1B because he matches that description - development of pigment over the years, hair went from platinum blonde to golden blonde, he has the ability to develop "tan lines" in the sun and has developed two freckles/moles. 

Dear Brittany,

 You are absolutely right on the genetic testing for OCA1 etc.  However the test for HPS is a simple blood test, where the blood platelets must be looked at under an electron microscope.  A normal platelet has dense bodies on it.  sort of like a chocolate chip cookie.  Those of us who have HPS have no dense bodies, sort of like a butter cookie.  Again the testing for this is free, but you have to contact The HPS Network as explained above.  Just like with albinism HPS also has different mutations, but not enough is known about the disease and genetic testing could be inconclusive.

Take care,

Karen Tillman, Regional Coordinator, USA, Hermansky Pudlak Syndrome Network Inc.  NY HOme office 1 800 789 9477  My NC phone is 336 954 3604..

Karen:

Thanks for explaining the HPS test again.  I had actually already talked with Dorothea about that test in previous posts which is why I didn't go into it again in my last post.  We had Zach tested for HPS when he was 3 months old and Dr. White told us that he does not have that type of albinism.  I see you are a fellow North Carolinian!  I am from Charlotte but live just south in Fort Mill, SC.  Take care!

Good morning Brittany,

I am always happy to hear when tests come back negative for HPS.  I personally do not enjoy all the things I experience with it, and wouldn't wish them on anyone else.  I am however very blessed in the fact that my pulmonary fibrosis has been stable since age 38, and I am now 43 almost 44 years of age, and I have HPS 1.  I am not from Puerto Rico.  The only reason I know my gene type is that I participate in The Natural History Study at National Institutes of Health. 

Btw....we aren't to far away from each other.  I live in Greensboro, NC about 2 hours from Charlotte, depending on traffic and the like.  My family is participating in an event called The Human Race in March to raise awareness and money for The HPS Network.  If you'd like more information I'd be glad to share.

Take care

Hello Brittany,

Thank you for writting back to me. Yes I got hold of Donna and she give me great info. My peds doc is looking over all the  info I give him and is going to call DR.White about the testing and see when we set it up. I am happy and scared all at the same time.

Do you think I should get Bethany test to see what type she has? I just want to put her through all the needles if it is not 100% sure. I really don't know? What do you think?

Let me know and thank you again,

Dorothea

Dear Dorothea, 

 I think it is vital to find out about the HPS thing.  That is just my personal opinion because of all that I went through at a young age, and some things would have been done differently if only they had known.  However, being as most other forms of albinism do not have the same type of complications, I don't think it an absolute must that you find out if it is OCA 1 etc unless you just want to satisfy a curiosity.  Let me commend you however on contacting Donna Appell.  I think you will be glad you did.  If for nothing else but peace of mind.  Please be sure to let me know how all of that goes.

Take care

Karen Tillman, Regional Coordinator, USA, Hermansky Pudlak Syndrome Network Inc.  NY Home office 1 800 789 9477  My NC phone is 336 954 3604..

I have albinism and have never heard of this syndrome or test.  What type of problems and symptoms does it have?  I do have a lot of medical problems and just wondering if it could possibly be related to this?  Some of the things I bruise easily when about to do surgery and for infertility reasons/miscarriages they ran a bunch of tests which included an anti-coagulant test when came back positive and they said I would have to take heperin injections if I did get pregnant to stop clots from forming behind the placenta.  During an oral surgery I started hemeraging to death and they almost lost me during the surgery.  I have high blood pressure, high cholesterol, type 2 diabetes.  I get bronchitis and pneumonia at least once a year.  And since age 4 have gotten periodically kidney and intetinal infections at the same time last time being a year ago.  I am also over weight but don't eat a lot and can not loose weight no matter what I try.  Husband doesn't understand why i am as big as I am I gained most of it within a 1 year period and my doctor couldn't understand why at the time either.  My weight has stabilized but I am afraid it will happen again.  Don't know if any of this could be related or not just wondering since I have never heard of this syndrome till now.

Dear Mrs Wings,

Here is a brief overview of Hermansky Pudlak Syndrome (HPS)  First of all it is characterized by albinism (ocular or oculocuaneous) and a tendency to bleed.  Other symptoms include visual impairment easy bruising, There are more progressive symptoms which include pulmonary fibrosis, which often starts out as some of the issues stated above, and in about 15% of cases develop inflammatory bowel disease similar to Crohn's, Kidney disease, and cardiomyopathy.  Keep in mind that you can have some of these other problems you mentioned, but it could actually be seperate from the syndrome itself.  You can also have HPS and not have all the symptoms of the syndrome as well.  I know that sounds confusing, but I think you understand.  My concern for you would be that you are having the bleeding issues and the frequent episodes of bronchitis and pneumonia.  The test for HPS is free, and it wouldn't hurt to call the HPS Network and talk to Donna Appell as I was 38 years old before I found out, and I was having all kinds of issues too. I also have one other question, but keep in mind this isn't always the case.  Are you of Puerto Rican descent by any chance?  Your odds at the moment are higher if you are, only b/c of what we know right now.  However I am not of Puerto Rican descent, and I have HPS.  You can reach the the network at 1 800 789 9477. Be sure to let Donna know that I referred you to them.  We also have a website www.hpsnetwork.org and if you would like to chat with me some more I am the regional coordinator for the eastern middle states, but I will talk to anyone.  I am from NC, but serve states to the north and south of me, and sometimes in other parts of the country too.  My website is www.myspace.com/karenshpskorner my email is www.till3604@bellsouth.net   be sure to reference HPS in the subject line, as I will always address those emails, and if you would like my # it is 336 954 3604.

For those who have been tested or have had children tested for HPS how long did it take for the test results to come back and do they call you or mail your the results?

For those who have been tested or have had children tested for HPS how long did it take for the test results to come back and do they call you or mail your the results?

Once the blood gets to Dr. White in MN, it's really only a couple of days before you should get the results.  I think Dr. White called us 2-3 days after he received the blood from us.

ahh thanks for letting me know