NOAH AOC

 Hello everyone.....I have a baby girl she is 18 months Laura Isabelle(Bella)  and she has OA......and now they are telling me I should get her tested for this HPS...... just to rule it out......I do not know what this is.....I live in MASS......where do we go for the testing???plz help me.....thanks so much!

Oh your little girl is such a cutie!

First of all let me just say that who ever is telling you to get screened for HPS is really on the ball. Too often it seems our families have to beg the doctors to get this test done.

HPS is a very rare type of albinism that also causes a bleeding disorder. The bleeding disorder can vary widely from very mild, to more severe. Some types of HPS also may involve other health-related issues later in life.

I think it's a good idea to get the testing done because although HPS is very rare, if your daughter does have it it's better to know. The bleeding issues are treatable, but they don't show up on the standard blood work for surgery or in the ER. If heaven forbid, she were to be in an accident etc. it's not the time to be finding out about a bleeding disorder.

The test is a blood test. The blood will be sent to the University of Minnesota to be reviewed under a very powerful microscope. People with HPS lack dense bodies on their blood platelets. Think of them like chocolate chips in a chocolate chip cookie. When we're injured, these little chips, which are actually little sacs of chemicals, spill open. The chemicals inside help the blood to clot. People with HPS don't have these chips. Our platelets look like "butter cookies."

If you call the HPS Network, Donna Appell can help you organize getting the test done. The contact info is:

Contact Information

ADDRESS	Hermansky-Pudlak Syndrome Network Inc. One South Road Oyster Bay, New York 11771-1905
PHONE	(516) 922-3440
TOLL FREE	1(800) 789-9HPS
FAX	(516) 922-4022
E-MAIL	hpsnet@worldnet.att.net

 

 

 

Wow thanks for all the info....I will look into it asap....I have never heard of this....well till my baby had OA I did not know much about albinisum....and I have read alot and still learning about it.....Yes Laura works w/ Perkins school for the blind and they told me about it.....cuz Laura has brusing on her legs....she falls ALOT!!! So I will look in to this testing and call her doc.....we have a app next month.....but I will call him and see about this test....so is it a blood test?? And we send it there the info you gave me??? I will look into it  thanks SO much for all the info.....I will keep you posted....Krissy

Yes, it's a blood test, but i'd fall over from shock if your doctor's office will have heard of it. We've got a packet of info about how to do the test we can send you. If you call the Network they'll send it to you. But, if you have a hard time finding anyone home (the HPS Network is run out of Donna Appell's house) then e-mail me privately and I'll e-mail you back the packet. (hkdawn@yahoo.com.) I'm the Vice President and Director of Outreach for the HPS Network.

The "look" of people with the HPS type of albinism varies greatly. Some people look like they've got OA, and others have very blonde hair and light features. The reason is that biochemical chain of events that causes the albinism in HPS is a little different than other types of albinism. We actually have plenty of "pigment cells" - instead the problem is the cells aren't "activated" so they don't know what to do. Different people with HPS have this problem to different degrees. I have blonde, almost reddish hair, while my brother, who also has HPS, has very, very, very light hair. It's just different from person to person.

It is wonderful for you that you have a dr. that is so on top of this.  My family is greatly affected by HPS and OCA, and most Dr's don't even know what the conditions are.  I am one of the lucky ones in my family as I am not affected by the OCA and don't have the nystigmus, but likely have HPS.  The university of Minnesota did a study on my family when I was very young but only did the light testing in my eyes and found that I was likely a carrier, but not conclusive.  I am very fair skinned, and have a reddish blond hair color.  As I am thinking about starting a family this is a concern of mine, as far as finding a knowledgeable Dr or one that is willing to learn.

should EVERY baby w/ Albinism be tested?  We are in Southeast Texas..... I wouldnt even know where to begin.

Is there any indications that one might have HPS? I had my sons tested a week ago only to find out that the baby who is the only one with OA, blood work came back abnormal. The doctor kinda of hesitated on it but since my oldest son was having bruising and nose bleeds, my baby had bruises on his legs so I told her that with OA there could be another condition called the HPS. So she ordered the test. Needless to say my baby is being sent to a hematologist for more testing... We have also been referred to a genetics counsler so if someone who has gone through this could please fill me in on what to expect I would greatly appreciate it.

 

Thanks

Christine

Do regular ped. do any of this blood work or you have to go to a geneticist? Why can't the peds do the blood work for HPS?

His ped ordered bloodwork to check his PTT/PT. I think they can't b/c its genetics involved. Just another way of spending more money on more test and expensive doctors  lol not really sure..

would there be any symptoms before going through this testing? And would the baby also have OCA or OA? Like how many people with OCA have HPS? MInnosota is the only place they can get tested?

I'm surprised no one else has responded before now, but from what I understand, the only way to test for HPS is to send a blood sample to Dr. White as Heather described above.  It cannot be diagnosed with regular blood tests done by your regular MD.  Dr. White will look at the blood under an electron microscope and see if your child has it or not.  When Zachary had hernia surgery at 3 months old, I had the nurse draw an extra vial of blood and followed the instructions Donna Appell of the HPS Network sent me and sent the blood to Dr. White for viewing.  He contacted me shortly thereafter and let me know that Zach does not have the HPS type of albinism.  HPS is just one of many types of albinism, including OCA1A, OCA1B, OCA2, OCA3, etc.

Update for my son: I had my son tested wednesday and got the results 5 minutes after they recieved them that he does not have HPS....I am so so happy and relieved to find this out.....Just some great news to hear after hearing that my child has OA

Oh thank goodness!!!

Hey There,  I know this may sound like a stupid question, but what types of tests were performed to arrive at this conclusion?  The reason I am asking is that you cannot tell by doing the normal PT or PTT tests as they almost always come back normal.  Mine came back normal, to the poinjt I was misdiagnosed for 38 years, and that is why I am being extra nosy.  I would hate for your child to endure some of the things that I had to go through, especially since most of them can be avoided now with the knowledge we have today.

The only way to get a truly accurate diagnosis is to send the blood off to the University of Minnesota.  They look at the blood under a special microscope called and electron microscope.  With this microscope they can look at a person's platelets.  Platelets are important in the diagnosis of HPS as there are these little dense bodies found on a normal platelet sort of looks like a chocolate chip cookie, and these dense bodies help with the clotting process.  People with HPS have no dense bodies on their platelets thus their platelet looks much like a butter cookie, which helps to explain the bleeding and bruising issues.  The good thing is that the testing is FREE!!!  If you still have questions please contact the HPS Network at 1 800 789 9477, someone would be glad to talk to you if you haven't already.  If you cannot reach anyone in NY, you can also reach Heather Dawn, who is Vice President of the Network at hkdawn@yahoo.com

Take care, Karen Tillman, Regional Coordinator, Mid Atlantic USA Hermansky Pudlak Syndrome Network Inc. NY Home Office 1 800 789 9477, my email till3604@bellsouth.net My blog www.myspace.com/karenshpskorner My YouTube www.YouTube.com/tommytillman

Bryson06:

Update for my son: I had my son tested wednesday and got the results 5 minutes after they recieved them that he does not have HPS....I am so so happy and relieved to find this out.....Just some great news to hear after hearing that my child has OA

 

Great news, my kids just got the all clear too, as everyone keeps saying, Dr White is the only one who does the test, even for us in the UK. My daughter is bleeding and bruising and my son has lung and bowel symptoms -I am SO relieved they came back as not having HPS,  my daughter does have an extremely high platelet count though we do not know why yet.