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Tuesday, June 26, 2012

As Makayla Sees It

I have been neglecting this blog a bit lately. 

I initially thought this blog would a place to share stories about my twins and keep family up to date on our journey to diagnose and treat Makayla's nystagmus, but as the number of visits to this blog increases (which I am so excited about and grateful for) I am connecting with fellow moms (twin moms, new moms, and moms of children with low vision) that are looking for very different information from my blog, and I'm finding that I don't really know who I'm writing to anymore.

So, I have moved all my posts about nystagmus and albinism over to my new blog, As Makayla Sees It, with a focus on Makayla's vision.  I hope that it will be a resource for information for my fellow nystagmus and OA moms as well as a tool to communicate to all the people who love Makayla, the details of her progress and our journey.

This blog will remain a blog for me to share my mommy moments, tears and laughs and a peak at our family life.  Of course, Makayla's vision will always be an important part of our life and I will continue to share important updates here, but maybe in less detail.

Saturday, June 23, 2012

We have a WINNER!

The 4th of July giveaway ended yesterday and we have a winner!

Comment #18 is from Pamela Rote!  Congrats Pamela!  Please email me at acmoshier@gmail.com so I can set you up with your prize!

Please remember that everyone who entered the contest is eligible for 20% off their order with Gussied Up Bows through the 4th of July!  They truly have some unique accessories and she creates custom bows for special occasions!

Monday, June 18, 2012

4th of July Giveaway!

It's summertime and it has certainly been heating up around here!  If you're anything like me, you are looking forward to all the outdoor fun that comes with summertime, especially the 4th of July!

To help us get in the spirit and celebrate, Gussied Up Bows, designed an adorable Bedazzeled 4th of July Firecracker Bow, just for me to give away to one of my wonderful readers!

Gussied Up Bows makes unique and affordable hair bows and accessories for little girls.  Make sure you check out all the other fun accessories they have on their Facebook page, because they are offering a 20% discount on everything through the 4th of July when you enter the giveaway below and use promo code FIREWORKS when placing your order between now and July 4th!

So, make sure you enter this giveaway so you can get your discount and win this fun bow for your little girl to wear, this 4th of July! 

Entering is easy!

Make sure you visit and "like" Gussied Up Bow's facebook page here, and make sure you have "liked" Happiness Is on facebook, here, then leave a comment here on this blog post letting us know that you have done so!

If you would like to earn extra entries, you may do so by doing all or some of these tasks below.  For each task you complete, make sure you leave an additional comment here on this blog letting us know that you have done so:

1)  Share the contest on your facebook page

2) Share the contest on Twitter using hashtag #GussiedUpBows

3) Share the contest on your own blog, and leaving a comment here with a link to your blog post

4) Share the Gussied Up Bows facebook page on your facebook timeline.

5) Subscribe to this blog using the subscribe wigdet on the right column

6) Follog this blog using Google Friend Connect

That's up to seven possible entries!  So, what are you waiting for?  A winner will be drawn using Random.org on Friday, June 22nd!  Good luck!

Thursday, June 14, 2012

Morning Brain Spillage: Albinism

When Makayla was three months old, and her pediatrician diagnosed her with nystagmus, one of the first things they asked me was if it was possible that she was albino.  I laughed and just said that she took after me, thinking to myself, "can they not see how light I am?" 

My own dad (who is very dark in his skin, hair, and eyes) and I joked when I was a kid, that my mom's family was albino and that's why they, and I, were so, so, so pale (I actually REALLY hate the term pale, I prefer fair.  Pale sounds sickly, fair is just really light.).  But it was a joke!  I already knew that nystagmus was common in people with albinism, but obviously the doctors were just jumping to conclusions, because my daughter has all the same coloring as me (my eyes are green now, but were blue through elementary school and started changing in 7th grade), and I could not possibly be albino, since my eyes are green, and I have freckles, and although none of my friends would call it a tan, my skin tone does change some, when I get sun.  Although, my hair was white as a baby, whiter than Makayla's, it's now a very dark blonde, maybe even a light brown.  Obviously, I can't be albino.

But with more and more doctors asking about Makayla being albino, and now with her ocular albinism diagnosis, I'm learning so much more about albinism.  You might think of Powder or Whitey from Me, My Self & Irene when you think of someone with albinism, with the red or blue eyes, and the white hair and the translucent skin.  In fact, there are many different types of albinism and some include having some levels of pigment.  Now knowing this, I've asked doctors, if Makayla is albino, is it possible I am too?  But I'm always shut down, told that since my eyes are fine, I can't be albino, and that if I were the one with albinism that it would have been passed down to Austin, not Makayla (There is a dominant gene carried by mothers and passed down to sons, without the father having to carry a recessive gene, because Makayla is effected, and not Austin, we know this is not the case for us).

The more I read, I'm realizing that just may not be true. It really is frustrating how much information doctors just blurt out without really knowing for sure. 

I was catching up on my friend Amy's blog, Through the Eyes of Liam, and was reading a post she has on Oculocutaneous Albinism.  In the post, she lists characteristics of the most common types of albinism, and I couldn't help but notice that this part, aside from the vision problems, describes me to a T:

OCA1b- A quick rundown:

White or light yellow hair at birth but darkens with age, can change to a golden or light brown
Skin remains white but often has some generalized pigmentation
Tans with sun exposure
Iris color remains blue or change to a hazel/green or brown/tan
Transillumination shows in streaks or clumps of pigment in the iris
Fine granular pigment may develop over time in the retina
Visual acuity is usually between 20/100 and 20/200 but can be as good as 20/60
Nystagmus and Strabismus is possible.
Involves tyrosinase enzyme--which converts tyrosine (an amino acid) into melanin

There are many other types of albinism, so I have to wonder if there is one that would include the first half of this description, but leaves out the part about transillumination, or maybe the transillumination improves with age, because I remember being a lot more sensitive to light as a child than I am now. I remember my eyes aching when I stepped outside some mornings.  I am just so curious...  In a lot of ways it would make so much sense, like how my dad ca be so dark, but I'm so fair, and how I don't exactly tan in the sun, I turn a sort of pink color.  It's not the same as a burn, but it's definitely not a a brown tan color.

I'm not sure what any of this actually means.  It doesn't change my life in anyway, and it doesn't change the way we go about treating Makayla, but it sure is facinating to think that you can go 30 years and not know something to significant about your self.  Regardless if I am albino or not, I probably at least carry the recessive gene, and my husband must also, in order for us to have passed it on to Makayla.

We are still waiting for the referral for genetic testing to come through.  Our pediatrician has sent a request to Stanford, but they are so backed up with referrals we don't expect to hear from them until November and then probably wont have an appointment until early next year.  That is just to see a geneticist and find out if our insurance will cover testing, which we don't think it does.  Besides wanting to know to quiet my own curiosity, finding out will help us to learn how likely we would be to have more children with albinism, and how likely Makayla and Austin are to have children with albinism.

Tuesday, June 12, 2012

VEPs And Stuff

Oh bloggy, blog, blog.  Did you miss me?  It's been too long!  Having this blog has not only helped me to connect with amazing moms of children with nystagmus and ocular albinism, but it helps me feel like I'm partaking in adult conversation when I'm locked in the house with toddlers for 12+ hours a day.  There is only so much, "ew, stinky poopies!" a thoughtful and intelligent person can take!  But...over the past two weeks, our normal routine was shaken up by a new, almost non-existent nap schedule, and I'm having a hard time figuring out where blogging fits back in. 

Today, we spent all of our morning and most of the early afternoon out of the house, so they are pretty happy to be home and chasing after the dog, for now.  And so, I write!

What took all morning was a visit to UC Berkeley.  Almost a year ago, Makayla's vision therapist helped us get into a research study at UC Berkley, in which they are studying how children with visual impairments learn about, and understand, the world around them.  For our participation in the study, the optometrist overseeing the study provides annual eye exams.

Makayla had her first when she was 9 months old, and we learned that she has only a very slight astigmatism, and that at that point glasses would not be beneficial.  The optometrist also preformed a VEP during that visit, which Dr. Hertle was able to use, since Makayla did not cooperate in Ohio.  The optometrist also predicted that, as her nystagmus improves (as it often does up until age 6), her vision may improve to be as good as 20/50 or 20/40.  To give an idea of how good that is, my "bad eye" was 20/40 at my last eye appointment, thanks to astigmatism, but I can still drive without any required correction.

Today, I got to share with the optometrist all about our trip to Ohio, and that we'll be going back soon for surgery.  I also shared with her that Dr. Hertle diagnosed her with a very mild form or ocular albinism.  She was very excited to hear all the news and updates on Makayla but had her doubts about the ocular albinism diagnosis...  She said that Makayla's ability to see contrast has greatly improved and that she is in the normal range for kids her age.  She said that the VEP test showed that Makayla sees quite well, but noted a new nearsightedness.  Part of Dr. Hertle's after surgery plan is to get Makayla in contacts as early as possible to help with light sensitivity and to slow her nystagmus, but since she now has a nearsightedness the optometrist predicts that by the time she is in the contacts, she will likely need a prescription.

We also did a new VEP test today, which Makayla was very cooperative and happy throughout.  The VEP test is a strange looking test where they put several leads on Makayla's head for measuring her brain waves, as she watches a monitor with various moving and flickering lines.  The optometrist explained that they are measuring her brain's response to various details and contrasts in the lines to determine how well she sees. They did the test with both eyes, then just with the left eye (since the left eye is currently dilated in preparation for her upcoming surgery), then they did both eyes at a further distance.  They will be sending the results of the exam and the VEP test to Dr. Hertle before her surgery.

The optometrist says that Makayla sees very well.  She said that her vision is "reduced by 2".  Normal would be 0 and she explained that most the kids she sees with nystagmus and ocular albinism are reduced by 6 to 10.  That being said, her depth perception will likely always remain very poor and she will always be sensitive to light, and obviously both of these things will effect her vision outdoors and in new places.  The surgery that Dr. Hertle will be doing will still help her vision.

Saturday, June 2, 2012

My Week In Instagram

I hope you all had a wonderful week, and are enjoying your weekend.  Our week was busy and eventful, and here are the photos to prove it!

White wine, peach, basil sangria!  Lately, my sister in law and I have been experiementing with sangria concoctions because drinking sangria just feels so summery.  For Memorial Day Weekend, we sent my husband out into the hear to BBQ us some steaks, while we made this delightful beverage...and finished it all between the two of us!

Makayla came down with the stomach flu early in the week.  This is her pouting and snuggling up to me.  Wish I could make her feel better!

Making silly faces with my favorite little boy!

I found our cat sitting in the dryer between the countless loads of laundry I did for Makayla's ruined clothes and sheets.

After about four days of the stomach flu and not keeping anything down, we had a trip to the ER to get some much needed fluids in our dehydrated little girl.  They were able to give us some Zofran to help her keep her liquids down, and she steadily got better after that!

My four point lunch, on weigh in day.  Salad made with a yummy yogurt ranch dressing, and a fruit for dessert.  I lost 3.2lbs this week.  That's 9.2lbs so far!

After spending all afternoon in the backyard playing in the water, this little boy still had enough energy to throw and chase after balls in the house!

Finally feeling better, but worn out from the afternoon in the heat and water, she snuggles up to me.  The very best feeling ever.  This is what I'm a mom for!

18 Months!

Today The Twerpies are 18 months old!  This moment was so hard to imagine when they were sitting in their little tanning beds (photo therapy for jaundice) in the NICU.  In so many ways, that feels like yesterday, but in more ways it feels like that was so, so long ago.  I can hardly remember life without them.

This is, by far, my favorite age.

They are an example of how to live your life:  They learn so much every day.  They are silly.  They are active and ambitious little beings.  They laugh and sing and dance, everyday.  They squeal with delight every time they see someone they love.  They are eager to experience the world around them.  They take time to snuggle.  They make me a better person.