Today we had our second appointment at Emory Eye Center, this time with a pediatric ophthalmologist. If you remember two weeks ago a retina specialist at Emory said that she did not feel confident giving Ruth a diagnosis of albinism. Today we were told not to rule it out and that it is entirely possible that Ruth has a version of albinism. Ruth has nystagmus, the jumping of the eyes, that makes her tilt her head to the side (most often she turns her head to the right and her eyes to the left) to find the null point the stop the nystagmus. (Look at her pictures on the blog). This concerns the doctor the most and she recommended a surgery when Ruth is about 5 or 6 to correct this issue. However, since Ruth turns her head to both sides instead of just one side, this may make the surgery harder.
The doctor today said that albinism can be hard to find in infants if you do not know what to look for and the retina specialist deals with adults and usually not infants. She did say that Ruth seems to see well, although we still do not know how well until she is older and distance acuity still seems to be the issue. Today's doctor also told us that ocular albinism does not happen in girls because it is x-linked unless the parents have it. We knew this from our research and tried to ask the original doctor if Ruth could have OCA (albinism of the skin and eyes) but that doctor just dismissed us. Hence, our search for answers that has lead us to today.
The next steps for us are to have Ruth monitored and checked every six months and wait for the surgery when she is older. So does our daughter have albinism? I don't know. We suspect yes. I can tell you that Ruth is brillant and beautiful. She is eating very well now and enjoys feeding herself. She is crawling and pulling up and today tried to walk holding on to the couch. She crashed and got right back up and tried it again. She talks nonstop and has the best giggle.
I can hear her crying now and should go help Brian with the bath.
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8 comments:
It must be really hard for you and Brian to keep hearing the indecisiveness of the doctors. That would make me crazy, but also maybe give a little hope that it's not the scenario that we most fear. Like you said, Ruth is growing well, eating well and developing well. She looks and seems to be a perfectly normal child to me. But as a mom, you want to be able to fix it and fix it now. I continue to pray that she will have perfect vision.
Hey Nat....gosh, she is just beautiful! And those pics....who is taking those. I should hire you guys when I have kids. Just wanted to tell you I pray for your family daily. Thanks for posting the blogs. God Bless you and I look forward to the updates of Ruth.
"When life gets too hard to stand, Kneel" one of my favs.
I just wanted you to know I am thinking of you and your family. I know how hard this road can be, I have two daughters with albinism
Hi my name is Jill and I have a son with OCA1b. He has the blond hair blue eye form of albinism. The only way of to verfy albinism is genetic testing. An eye doc will always say ocular albinism because they only deal with the eyes. The doc said the same thing about my Andy. But, we did the genetic testing. Does the child have pigmentation in the eye? My son was 9 weeks old when his nystagmus started. That is when we knew he has albinism. Have you checked out NOAH.org. and NOAH AOC? This is the online chat for people to talk about albinism I am on there as Andrew's Mommy. We have all been in your shoes. Andy will be 2 next week and he is doing great!!!
Jill
Mommy of Katie 4 and
Andy almost 2 (OCA1b)
Hi Natalie! Another NOAH mom sent me to your blog. My name is Brittany and my son Zachary is 5 and has OCA. We think he has
OCA1B because he has gained some pigment since he was born. I was reading through your blog and it reminded me of Zach's unexpected diagnosis and all the feelings that went along with that. Your daughter is beautiful and you are so blessed to have her which you already know! I know not having a firm diagnosis must be difficult. The only way to confirm whether she has X-linked OA, OCA, etc., is to have her tested via a blood test through the geneticist. I see you also mentioned null point surgery and I wanted to let you know that my son had the surgery on Nov. 4 with Dr. Richard Hertle in Pittsburgh, PA. If you would like more details, I have posted a lot on the NOAH web board. Or feel free to e-mail me at brittany7799@yahoo.com. He is the expert in nystagmus and has treated many, many patients with nystagmus and albinism. It looks like you are in the Atlanta area? We are in the Charlotte, NC area, but my dad lives in Roswell, GA and we were just there visiting over Thanksgiving. Well, I just wanted to introduce myself and offer support. Take care!
Hey there! My name is Monica Corinne and we live in TX and have a 5 month old with Albinism. I can relate your frusteration about all the indecisive diagnosis. We dealt with a little of that but more with wrong inforamtion once we got the actual diagnosis, so if you need to talk or have questions I am totally here. corinne_bitner@yahoo.com or www.blancasfamily.blogspot.com. Your daughter is absolutley beautiful! Wishing you Happy Holidays, Merry CHristmas and Happy New Year.
I'm sorry, I forgot to leave my e-mail address. JillFass@gmail.com. I forgot to say I love your baby's Christmas pic, she is sooo cute!!! There is also a mom's albinism group that talks by an e-mail loop. We are from all over the place. Let me know if you would like to join it. It is much more personal we love to answer questions!
Merry Christmas!
Jill
Mom of Andy OCA1b and Katie
Hi, My name is Paula. I have a 17 month old son who was finally diagnosised with OCA 1 by a pediatric geneticsis. The Pediatric opthalmologist would only diagnosis ocular albinism.
Just to let you know, you are not alone in your search for your daughters diagnosis. She is adorable.
I wish you a Merry Christmas and Happy New Year and continued strength to advocate for your daughter.
-paula (another NOAH mom)
www.albinism.com
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