Child Awareness

Apr 24 2013 Leave a Comment

Will park

I have recently been thinking about Will’s awareness of his eye condition, Ocular Albinism. Since he was born with it, it is his normal and he probably isn’t aware that his eyes see differently than other people.

There was a discussion about child awareness in a Facebook Group for parents of OA/OCA children about when you “tell” your children about their condition. The responses got me thinking about what we are doing for Will. Some parents believe in telling their child at a young age that they are different and how. Others believe that you should wait until they have the maturity to handle some of the stigma that may come.

Jim and I have worked very hard to help our boys feel as typical as possible; for Jack with his tube and Will with his eyes. We try to treat them similarly to any other child, just being aware when they might need extra help. Jack’s tube went away when he was three, so he doesn’t remember it other than pictures. Up to this point we haven’t directly told Will that he sees differently, because I don’t think he can understand what it means.

The important thing for Will to understand is to tell adults and teachers when he can’t see something or needs help, basically advocating for himself. His personality is such that he is pretty vocal with his needs, so I am confident he will naturally ask for help. I want to make sure he has a balance with his understanding of being different, but knowing that he is still very typical in most other ways.

Over the next year as he gets ready for Kindergarten we will definitely make sure he understands his condition and when he should ask for help. He will need to know the name and how to explain it to people, but for now he is just too young to understand.

When do you think is the right time to make your children aware of conditions they may have?

Filed Under: Vision Tagged With:

Eye 2 Eye

Aug 06 2012 3 Comments

Two weeks ago the boys had their annual eye exam with Dr. Weiss at Seattle Children’s Hospital. We go each year to see Dr. Weiss as he is one of the nation’s leading authorities on nystagmus and Ocular Albinism (OA). During our visits we make sure no other issues are cropping up and track the kids’ progress. This visit was the first time Will’s vision was actually measured using the big boy eye chart.

childrensEyeChart_POPFor Will they used the beginning eye chart of black and white pictures. The tech showed him a sheet before it started and asked him to name each one to determine a base line of what he knew or what he called each one. He measure 20/70 with both eyes together. As a wiggly three year old he started to get antsy at the end and may have done better, but it is a good baseline to start with. Dr. Weiss said that typically the first time kids are measured on the big eye chart their vision measurement is usually lower than normal. Will is measuring right in the typical range for kids with OA. His visual acuity can continue to get better, so our fingers are crossed that he will.

Will continues to have his left head turn of 15-20 degrees from his nystagmus. He also has an astigmatism, which contributes to blurred vision, but can usually be corrected with glasses or contacts (I actually have an astigmatism). Right now his astigmatism blur is less than the visual blur from his OA, so we don’t need to do anything to correct it. Eventually he might use glasses in the future to help with this if his vision continues to improve and the astigmatism starts to contribute to his lower visual acuity.

Jack continues to be a very mild case of OA. So much so that Dr. Weiss has only seen a few other kids like him. He is 1% of the OA patients that has almost normal vision and good stereoscopic vision (depth perception). However his left eye does continue to have worse vision than his right. This visit he measured 20/20 in his right eye and 20/30 in his left; better than last year. Since we tried patching before and it didn’t help, Dr. Weiss wants him to do a 3-6 month trial in a pair of glasses to try to get his left eye to improve. Vision is set around the age of eight, so we have 6-9 months to make one last big try. We haven’t gotten his glasses yet, with all of our travels, but I will post a photo of him once we do. Jack doesn’t have an astigmatism, so theoretically he will not need to wear glasses in the future.

The bottom line is the boys are doing great. Will’s eyes need to continue to mature and hopefully his vision improve in the next few years. It will be interesting to see if Jack’s left eye will improve more with the glasses. And All of Us Will See.

Filed Under: Jackson, Vision, William Tagged With: , , ,

Genetics of Ocular Albinism

Apr 04 2012 Leave a Comment

My boys have both been diagnosed with the genetic condition, Ocular Albinism — Will in August of 2009 and Jack in November 2010. Ocular Albinism is a condition in which the eyes lack melanin pigment in the fovea of the retina causing decreased visual acuity. I have received many questions about the genetics of Ocular Albinism given the complexity of the eye and this rare disease, so let me try to provide some clarity, no pun intended.

The most common form of Ocular Albinism is X-linked where the affected gene is on the X chromosome. Due to the fact that boys have only one X chromosome inherited from their mother, they are most affected by Ocular Albinism. Each time a mother carrying the mutated X chromosome has a baby boy there is a one in two chance that the boy will have Ocular Albinism. Unless the father has Ocular Albinism, girls will either just be carriers or not affected by this type. Based on the diagnosis at Seattle Children’s Hospital, we believe the boys have X-linked Ocular Albinism.

x-linked

A more rare form of Ocular Albinism is autosomal recessive. In this form both parents carry the recessive gene. In this case, the baby would have to receive an affected gene from each parent to have Ocular Albinism. There is a one in four chance that any children would have Ocular Albinism. Both boys and girls have an equal chance of inheriting the affected genes. Oculocutaneous Albinism (the most severe type of albinism that affects the pigmentation of the skin, hair and eyes) is most commonly autosomal recessive.

autosomal recessive

The only way to truly identify the type of Ocular Albinism is to conduct a genetics test, however, examination of the mother can help narrow the possibilities. The gene for X-linked Ocular Albinism has been identified at GPR143. We have opted not to do the genetic testing at this time, due to the cost of the procedure and the fact that it doesn’t alter our treatment plan for the boys. We will eventually do the testing so the boys know what odds they are dealing with when it is time for them to start a family. While that choice is ultimately personal, Will has proven that children with this disease can be fully-functioning human beings. And hysterical, larger than life, crazy and the love of our lives.

Filed Under: health, Vision Tagged With: , , ,

All done patch

Jun 01 2011 Leave a Comment

As Will would say, “Jack all done patch.” Jack had a follow-up with Dr. Weiss at Seattle Children’s to determine if the patching was helping his weak eye.

To recap, in November at his appointment they discovered that Jack’s left eye was weaker than his right eye. That started 6 weeks of patching everyday for 4-6 hours. He was a very good sport about it. After a follow-up vision check, they determined that there hadn’t been a significant change, but wanted us to keep at it. So for 4 more months he patched for 4 hours every other day, or when I remembered to do it.

At the appointment they tested his vision again and determined that it wasn’t helping. His vision tested the same as it had in November. They think that his difference in vision between the eyes is due to asymmetric macular hypoplasia as part of his Ocular Albinism. This means his macula is under developed, at least one is.

He did do better on his stereopsis test. They said he has high grade stereopsis, which could mean that he doesn’t have the typical inter-hemispheric crossing of the fibers between the brain and eyes. In typical OA cases more fibers than normal cross to the other side, but Jack’s fibers may be like a normal sighted person. This is great. I may mean that his depth perception will be better than we had originally thought. We go back next March to have everything tested again.

Jack was very happy he doesn’t have to wear the patch anymore. And I can stop feeling guilty about the days I forget to have him wear it.

Filed Under: Jackson, Vision Tagged With: , , ,

Guest Post

Feb 18 2011 2 Comments

Today I have a guest post on Rage Against the Minivan, a great blog about a mom trying to avoid owning a minivan, despite the fact that she has 4 kids within 5 years. She has been running a series called What I Want You To Know. I wrote about Ocular Albinism.

Thanks Kristen for featuring our story!

Filed Under: guest posts, Jackson, Vision, William Tagged With:

Patching progress

Jan 26 2011 Leave a Comment

Really this post should be named lack of patching progress. Last week was our 6 week check in to see if the patching was working. To catch up those who don’t remember, Jack’s right eye is strong than his left, so we have been patching his right eye 4-6 hours a day to try to make the left one stronger. You can read more about it here.

Well, the patch really hasn’t forced the left eye to get stronger at all. Even so, we are continuing to patch for the next 3.5 months, but now it is only 4 hours every other day. They just want to make sure that there isn’t any progress before we give up all together. So he has to wear it a few mornings, but not to school. Actually he never wore it to school, by design.

I think the reality of his eyes is most likely due to the Ocular Albinism and will not be able to be strengthened. The tech who administered the exam was trying to cheer me up a bit by saying, well he should be able to pass a drivers test even with his bad eye. You know in case something happens to his good eye.

You mean something could happen to his good eye???? Well of course, but that is the last thing I want to think about at that moment. Now I have one more thing to think about in the middle of the night when I can’t sleep.

So on we go with the patch until sometime in May. Jack is being a good sport about it and usually doesn’t complain about wearing it. Some days we even almost forget to take it off as he is heading out the door to school.

Filed Under: Jackson, Vision Tagged With: ,

Arg! Jack the pirate

Dec 08 2010 2 Comments

Last week the boys had their follow-up eye appointment at Seattle Children’s with Dr. Weiss. This appointment was to assess how William’s development was going and figure out if Jackson also has Ocular Albinism.

Using an OCT, Optical Coherence Tomography, machine they were able to map Jack’s retina. OCT is essentially an optical ultrasound. They were using it to assess his macula (oval spot in the center of the retina responsible for the highest acuity vision) and fovea (small pit in the center of the macula responsible for our central, sharpest vision.) Jack has both (which is good, because many people with OA they don’t have a fovea), but they are abnormal. The most interesting part of the test was that they found he had very, very mild nystagmus. It is so mild that it was only detectable by the machine and can’t be see by the naked eye. So it is confirmed he has a very mild form of OA.

They also tested Jack’s vision. This time he tested better than before 20:25 in his right eye, but 20:40 in his left. Together he tested 20:25. That is a significant enough difference for Dr. Weiss to want Jack to wear a patch on his right eye for the next 6 weeks to see if his left eye will strengthen. We call it his pirate patch, since luckily he is into pirates right now. He only has to wear the patch 4-6 hours a day, so we are able to avoid having him wear it to school.

patch.jpgHe is being very strong about having to do this and explaining to everyone that he has to wear it to make his eye stronger. He is coloring the patches to make it more fun. This is the patch he did for the Husky game over the weekend. He even wrote Locker on it.

Will had his visual acuity tested and it is still in the normal range and a little better than last time, which is good. They dilated his eyes and because he sits so well we tried to get an OCT on him as well (they usually aren’t able to do them on kids under 3.) We were able to get a good enough picture to at least give the doctors a better idea of his macula and fovea. It turns out that his macula and fovea are at least as good as Jack’s, maybe better.

That gives us hope that his vision could be better than we originally hoped. Dr. Weiss is not willing to put a number to it, but there is hope. The only difference between them is Will’s nystagmus is more pronounced, but still considered very mild. We feel that his nystagmus is actually getting better. He is able to control it at times and it is only really dominate when he is trying to look far away.

The good with the bad. Overall it was a good appointment, the boys are progressing, Will’s vision continues to develop within the normal range. We have a diagnosis for Jack, if it wasn’t for Will we probably never would have known that he had it. We probably would have thought that he just didn’t have perfect eyes (who does, I certainly don’t.) The hardest part is the patching.

After dealing with Jack’s NG tube and all the looks that we got during that time I was having a hard time with the idea of a patch on his beautiful face. Even though Will has eye issues they aren’t completely obvious to every person at the grocery store. The patch was going to be. I put on a brave face for Jack and it is going well so far. We are able to avoid having him wear it to school, but that means he has to wear it to Kids Club at the gym. The first morning he got a lot of questions, but now everyone knows and it isn’t a big deal.

So I am trying to smile as I put it on and take it off everyday, remembering that if we have to do this for 6 weeks to help him have better vision for the rest of his life it is worth it.

Filed Under: Jackson, Vision, William Tagged With: , , , ,

One year later

Aug 05 2010 1 Comment

Well it has been a year, a year of blogging, a year of putting my thoughts and our life out there. I started this out of desperation in the midst of a feeding crisis with Will as a way to relieve stress and hopefully help others. At the time I had no way of knowing that a couple weeks later we would receive a more devastating diagnosis about Will’s eyes.

One year later Will is a thriving, running toddler who desperately wants to keep up with his brother. His eating resolved itself as soon as we starting thickening his bottle. We are now in the process of getting rid of the bottle. He is clinging to the one bottle before bed with all his might.

As for his eyes, the Nystagmus is still present, however not nearly as prominent. He is learning to hold his head to help minimize the effects and help his eyes focus. Since one of the problems with Ocular Albinism is a lack of depth perception we help him with steps, especially ones that are the same color, like grey concrete. We don’t need any more crash landings than he already does. He sees what he will see and as of now we just have to wait and hope that his eyes will continue to develop normally.

Jack is getting ready to start Kindergarten in a few weeks and is a great big brother. He actually stopped Will from running down the street the other day. His potential diagnosis of OA (to be reassessed in September) was interesting and may or may not impact him at all. He is completely behind his feeding issues. The only way you would ever know he was tube fed and not a typical baby is the small scar on his tummy from his feeding tube.

Overall we are in a better space a year later. Thank you for following our story and I hope you will continue to in the months and years to come.

Filed Under: Blogging, Jackson, Vision, William Tagged With: ,

The eyes have it

Mar 17 2010 2 Comments

Yesterday we had out 6 month check in with Dr. Weiss (William’s pediatric Ophthalmologist). He tested William’s visual acuity and did a complete examination on Jackson.

Will’s visual acuity is doing well. He is still following the standard curve of normal eye development.  His acuity measured better than 6 months ago and we have also noticed that his is seeing better. He will spot an object across the room and go for it. He still has his nystagmus, but he is able to control it with the right head position.

Dr. Weiss said that worst case William would be 20:80, but more likely better than that. We are really hopeful that he could end up better than we had hoped for. Only time will tell and we just have to let him continue to develop. There isn’t anything we can do for him at this point, except keep him playing and interacting like any other child.

This is such good news! Lets keep our fingers crossed for 6 more months of good development.

Jack got his visual acuity, stereoscopic vision and his eyes dilated to check his retina. Dr. Weiss wanted to look at Jack’s retina to help determine how the Ocular Albinism has been passed down (if it is X-linked or autosomal recessive) more on that in another post.

At his 5 year old eye test Jack had a few problems, but I wasn’t sure if that was the situation (in the middle of a busy hallway and he was still learning his letters). Yesterday he tested 20:40 in one eye and 20:50 in the other. Not that good. When he was tested binocularly (both eyes together) he was 20:25. We think some of that is because he doesn’t want get a wrong answer and the other could be that he couldn’t quite see that clearly.

His stereoscopic vision or depth perception was below normal as well. This test is done by simulating 3-D images and having the child pick them out. We aren’t sure if anything outside of the test was contributing to his results on this one or not.

Jack also has iris transillumination (I do as well), but that is common for anyone with blue eyes. When Dr. Weiss looked at his retina he noticed that Jack’s macula and fovea were not normal in appearance. They aren’t as abnormal as William’s, but somewhere in the middle.

This has puzzled Dr. Weiss, the less than 20:20 acuity test, below normal stereoscopic vision, iris transillumination and an abnormal macula and fovea. He is wondering if Jack might have a very mild form of Ocular Albinism. At this point he doesn’t want to say he does have it or that he doesn’t. We are going to retest his vision in 6 months and hopefully perform an OCT or optical coherence tomography. This maps and measures the thickness of the retina. They are hoping to get a OCT machine at Children’s by then. The OCT will tell us for sure or not if he has it.

There is no question that Jack can see, so we aren’t concerned in the short term about him. As he starts Kindergarten in the fall we are just going to watch him and make sure nothing shows up. If it hadn’t been for William’s problems we probably wouldn’t even know about Jack potentially having it too. It will be interesting to see how it turns out.

Filed Under: Jackson, Vision, William Tagged With: , , , , ,

Will’s Eye Doctor Appointment

Sep 24 2009 Leave a Comment

Yesterday was the day we had been waiting for since we made the appointment a month ago. It was Will’s eye doctor appointment with Dr. Avery Weiss at Seattle Children’s. This was the day that we would confirm Will’s Ocular Albinism and try to get as much information as we could from Dr. Weiss, who came very highly recommended. Needless to say I didn’t sleep that well the night before. Overall the appointment was good. I think we got most of our questions answered.

Dr. Weiss confirmed the diagnosis of Ocular Albinism (OA) as we expected. All the other tests helped us establish a vision baseline and give us an idea of where he might end up (we will have a much better idea in 6 months).

The first thing they did was test his visual acuity again. This was the same test that Dr. Barrall performed when we saw her. This time he tested in the normal range (before he was below normal). This is his acuity, not his vision. They also tested his vision (to determine if he needed glasses) and he doesn’t need glasses at this time. With OA his vision will continue to get better up to a point (unlike a typical child’s vision), then it will level off and not improve while normal eyes would continue to improve. The eye continue to develop until the age of 3-4.

They looked at his nystagmus and determined that it is slow low amplitude nystagmus, which is conjugate, horizontal and pendular at a rate of 3-5 degrees and 1-2 hertz. This means his nystagmus is not that bad and he should learn how to compensate for it as he grows up. It appears that he is adopting a chin down posture to minimize his nystagmus. Jim and I have already started to notice this and think it is getting a bit better, his eyes not moving as much as they once did.

His eyes were then dilated to look at the back of his retina. He has macular hypoplasia and no melanin pigment in his retina, consistent with his previous diagnosis of OA. Based on this, Dr. Weiss surmised that his vision would probably fall into the 20-60 to 20-80 range. Someone with 20-60 vision is only able to see from 20 feet away what a person with 20-20 vision could see from 60 feet away. Unfortunately defects in the retina cannot be corrected with glasses. Only optics defects (in the lens) can be corrected by glasses.

He will also have binocularity deficiencies. Binocular vision incorporates images from two eyes simultaneously. The slight differences between the two images seen from slightly different positions make it possible to perceive distances between objects, or depth perception. With OA, the connections between the eyes are not wired correctly, so it makes it harder for them to make the complete image. What role this will play ultimately we will have to wait to see.

One of the interesting things that came out of the appointment was the Jack and I also have iris transillumination and both cases may actually be worse than Will’s. He dilated one of my eyes (which is a very strange sensation and I looked really weird too) to look at my retina. I have a normal retina and after Lasik surgery have normal vision. Jack has not showed any signs to date of any vision issues and appears to see and read fine (he sees better than Mom and Dad). The Doctor will do a complete exam on Jack at our next visit.

In the end, we came out with a confirmation of the diagnosis, a better idea of where his vision will fall and a better understanding of OA. We liked Dr. Weiss and were very comfortable with him. He wants to see Will in 6 months and did not feel there was a need to do further genetics testing to either confirm his condition or rule out other related conditions.

In our next exam, he will be able to plot on the curve where Will’s vision will likely end up. It was a long appointment (4 hours), but a good one. We are cautiously optimistic, but know that Will’s vision will be impaired for the rest of his life and never be normal. However, it was good to confirm what we are dealing with, establish a benchmark for his visual development and add a critical member to his healthcare treatment team. As a reminder, the Vision section on this blog has a lot of questions and answers regarding his condition and what we can expect.

Filed Under: Vision, William Tagged With: , , , , ,
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