We’ve had a few busy weeks of appointments. I figured I’d save up all the news for one comprehensive update that gives you all the latest info in one read. You may want to grab a glass of water for this one. It’s long and you’ll want to stay hydrated.
Genetic Update: The PAX6 Screening
As we shared a couple months ago, Ruby’s first genetic test confirmed she does NOT have the WT1 mutation that causes WAGR syndrome, of which Aniridia is one associated condition.
We moved onto a second set of genetic testing, this time looking for the PAX6 mutation more commonly associated with Aniridia. The reason we started with the WAGR test instead is because she also has one kidney, and there was a possibility that both the Aniridia and kidney finding could be linked as part of the broader WAGR syndrome. Now we know it’s not.
The good news is that she DOES have the PAX6 mutation. Why is that good? Because it gives us an answer and a sense of what to expect over the years. The only thing worse than a diagnosis is not having one. The unknown is a lot harder to navigate.
This tells us that her Aniridia and single kidney aren’t linked. Aniridia is genetic, meaning it existed in either the sperm or the egg, while the kidney anomaly likely occurred during development. Her Aniridia is sporadic, meaning neither Ryan or I carry the gene. It was totally random. This is the case in 1/3 Aniridia diagnoses.
So, we have two very rare findings (1/100,000 and 1/1,000) in one baby that aren’t linked — that’s our rarest Ruby for you.
Eye Clinic Update: Hello Cataract
Our next visit was a check-in with Dr. T at the Sick Kids Eye Clinic. The good news here is that her eye pressure continues to be within the healthy range. The less pleasant news is that the cataract in the eye she had surgery on has started to grow. (UGH…)
There’s no immediate action besides monitoring it more closely over the coming months. It’s not as simple as typical cataract surgery where they remove the lens and replace with a synthetic lens. In Ruby’s case, she doesn’t have an iris or a strong enough cornea to hold a synthetic lens in place. If we go this route, it will mean either a permanent contact lens in that eye, or thicker glasses.
There’s a fine balancing act here. Aniridic eyes are so complex that there are no clear answers. The risk of Ruby’s goniotomy surgery to relieve her glaucoma was that her cataract could act up. The risk of cataract surgery is that her glaucoma could act up. We’ll consider surgery if the vision loss caused by the cataract becomes worse than the potential for glaucoma.
Getting this news wasn’t fun. I had started to forget the possibility that her eyesight could get worse. When you’re treating something, you just kind of expect it to get better. But, such is the unpredictability of Aniridia. Or any health concern, really. When you’re so used to being (relatively) in control, having no control feels unnatural. But it’s part of the process, and it’s a reality check.
The shock of this news has passed. I know it’s always going to be alright. As I said earlier, this is all progress, good news or bad, because it’s progress in developing the person our little girl is becoming. Her bright personality shines more every day, and we love every piece.
Vision Coach Update: Ruby’s Awesome
This is the news we especially love hearing: Ruby is doing great! She’s on track developmentally with a few minor exceptions that you can’t totally pin on visual impairment.
For example, she’s still scootin’ backwards instead of a forward crawl, but at 8.5 months, it’s hard to say if she’d be doing that even if she had perfect vision. It’s cute to see her scoot backwards across the living room then turn herself around to check something out. She gets where she needs to go in her own way, just like any baby.
I’ve unsubscribed from a few baby e-newsletters I was getting because I was tired of seeing the monthly updates about what my baby “should be doing”. Every baby is different, and comparing causes more grief than relief.
We’re using a development chart for babies with visual impairments which makes way more sense for us. Even still, we take it with a grain of salt, because there’s always going to be wiggle room here and there. It’s good to have a general idea — it did help me identify the diagnosis when she wasn’t tracking and following objects — but to obsess over every little step along the way is just too much. She’s behind on a couple, and ahead on a couple. Every kid is different.
Family Update: 5 Kidneys
This just in: our family of three officially has five kidneys. Wait, what?
Today Ryan and I had abdomen ultrasounds done. Our doctor suggested it to determine if either of us had a single kidney that we passed on to Ruby. Turns out Daddy has two, Momma has two, and Baby has one. Five. 😉
This was more of a curiosity screening than a medical necessity. It’s just another way to look for a possible explanation. We don’t really have one for the kidney. It looks like it’s totally random, as it is in 1/1000 of the population, many of whom will be unaware their entire life.
This wasn’t my first ultrasound. During my pregnancy, I had a dozen or more monitoring our unique little one. It was a first for Ryan. Now he kind of has a sense of what it’s like to be pregnant. Just kidding. He still has NO IDEA. haha.
So there’s the Ruby update for this month.
You’ll notice the blog looks a little different today. We’ve added category headers so you can easily browse through posts by topic. Ruby Updates are anything that’s new with the Roo, Parents’ POV are lessons Ryan and I are learning along the way, and Resources are exactly that — resources that have helped Ryan and I learn more about visual impairments and Aniridia, which may be helpful to parents going through a similar experience.
For today, as Ryan likes to say — that’s all, folks.
Thanks for checking in on our special gal.