NOAH AOC

hi my name is sarah i have two beautiful sons with oa from what we were told i passed it on to my two boys as i carry the gene and i aso have it i just found out 3 months ago my daughter is clear of it the question that i have is what comes with it over here its not common doctors havent a clue what it is and know very little about it our middle son dylan has high frequency hearing loss seemingly this is part of the oa and also they have to be tested for  hermanski pudlak syndrome this we do not know anything about i honestly dont knw if we are coming or going at the moment to think i gave this to them and neither my mother or my father has it or my husbands parents can someone help us to understand more about it please thank you to all who read this from the bottom of my heart god bless you

Hello! I first want to say welcome to NOAH!!

My name is Dorothea and I have a 11month old duaghter who has OA. From what I understand  is the both me and my husband are carriers and that is how she got her OA.

I also understand it that the boys get OA from thier mother and The girls get OA from both mom and dad. So with your boys they got it from you. the Reason the your little girl does hav it is because your husband does carry the gene.  Do you have OA? If you do you got it from your mom and dad. if you don't you may be just a carrier.

I am a carrier. I don't have OA nor does my husband but we are both carriers. I hope this has helped you out. Good luck with all, and take care.

Dorothea

Hi Dorothea

thank you so much for your reply my daughter  is clear of oa she was given the all clear on it last month i my self have if but my mom is not a carrier of it neither is my dad when we found out about the boys we asked all the family to be checked for it do you know anything about hermanski pudlak syndrome both my boys joseph and dylan are being tested for it next month we have never heard of this and our doctor just hasnt a clue about it people look at you funy when you tell them your children have OA even in the school the teachers looked confused our middle son dylan developed high frequency hearing loss from it and now has hearing aids our other son has his hearing tested every 3 months just to keep a watch on it its nice to talk to another mom someone who finally understands what im talking about.

                                                                            thank you Dorothea

                                                                                      sarah

Welcome Sarah,

Some doctors can be frustrating I understand.  If your sons have x linked OA then you would be the carrier, typically if you carry this type of albinism your eye dr. can look in your eye and see mottled pigment.  Other types of albinism are autosomal recessive(coming from both parents carring the same form of albinism)  Did they test positive for x linked OA?

Here is a link to the university of minnesota-which explains many forms of albinism and there are some forms of albinism that can cause problems with hearing.

http://web.ahc.umn.edu/

Thank you so much for your reply i myself have OA the the doctor told me as he was examinig my eyes so at least its one thing i under stand i gave it to them going to check out that web site you sent me thank you again

                                                                             sarah

Hi Sarah

The Albinism Fellowship www.albinism.org.uk also covers Eire and has a forum too, Treasa O'Callaghan's number is on the AF website but you have just missed the BBQ in Dublin

Have you been in contact with the National Council for the Blind (NCBI) They will be able to provide information on visiting teachers from the department of education, who should be able to visit them regularly and get supports/technology/low vision aids that they might need.

Also Féach, which is an organisation that offers support and information for parents of blind and visually impaired childrenwww.feach.net

 My cousins are supported quite well in Connaught

My kids have been tested for HPS recently so I have all the necessary info for sending bloods over to the US

OK, I am now a little confused, just read this on your other post, have the boys been tested already???

Hello Sarah,

I just posted to you over on the HPS forum, but thought I'd post here too - not sure which you'll see first. My name is Heather Kirkwood and I'm the Vice President and Director of Outreach for the HPS Network. I can hopefully help you out with any questions regarding HPS. Please e-mail me at: hkdawn@yahoo.com.

I don't know for sure, but doesn't HPS only come with OCA and not OA? If that is the case, I would think the chances of Mom having OA and her kids having OCA are astronomical since they are two separate genes.

Maybe someone familiar with HPS can help clarify?

 Hi Sarah

It sounds like the same form that I carry and that I passed on to my son, who is now 14yrs old. He doesn't have any hearing loss though just the low vision. Go to a university hospital. We lived in Germany when we found out that my son had vision problems, and the eye doctor said he is blind go home. Then we ask if we could get a second opinion and he pointed us toward the university of Heidelberg. The doctors there knew a lot more. Like, he wasn't completely blind, and that he had occular albinism. At the time they told me that the form he had didn't have any other medical issues aside from the vision. They also set us up with the local vision therapist and other services that were available. The doctors can also see that I have the gene by looking into my eyes. I just wanted you to know that there is a lot of other people with the same thing. 

Hi Una

Thank you for pointing that out to me i didnt realize i didnt write it properly i shud have put in it they have to be tested for it sorry we got their appointment the other day august 14th  and thank you so much for the information you gave me you have been a great help hope to talk to you soon and once again i am sorry for the confusion

sarah

You're welcome

I would advise you to contact Heather for advise on HPS before your appointment, that way you will have a headstart to make sure you know what to ask and to make sure the doctor is doing the right test etc.  The HPS network talked us through the procedure, they were really helpful. Is the hospital sending the bloods to the USA?

Are you NI or ROI?

Hi Una

Im just after sending her an email thank you again for all i dont know if they are sending them to the usa im in the republic of ireland i got treasa number  im gona give her a ring tomorrow thanks a million Una i do appricate it

sarah